ENST00000000233.10 ARF5 ENST00000000233.10 Homo sapiens ADP ribosylation factor 5 (ARF5), mRNA. (from RefSeq NM_001662) ARF5_HUMAN ENST00000000233.1 ENST00000000233.2 ENST00000000233.3 ENST00000000233.4 ENST00000000233.5 ENST00000000233.6 ENST00000000233.7 ENST00000000233.8 ENST00000000233.9 NM_001662 P26437 P84085 uc003vmb.1 uc003vmb.2 uc003vmb.3 uc003vmb.4 This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC033104.1, SRR3476690.883380.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000000233.10/ ENSP00000000233.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. Binds ASAP2. Interacts with NCS1/FREQ at the Golgi complex. Interacts with RAB11FIP3 and RAB11FIP4. Golgi apparatus. Cytoplasm, perinuclear region. Belongs to the small GTPase superfamily. Arf family. nucleotide binding GTPase activity protein binding GTP binding cytoplasm Golgi apparatus plasma membrane intracellular protein transport retrograde vesicle-mediated transport, Golgi to ER protein transport membrane vesicle-mediated transport perinuclear region of cytoplasm extracellular exosome  uc003vmb.1 uc003vmb.2 uc003vmb.3 uc003vmb.4 
ENST00000000412.8 M6PR ENST00000000412.8 Homo sapiens mannose-6-phosphate receptor, cation dependent (M6PR), transcript variant 1, mRNA. (from RefSeq NM_002355) A8K528 D3DUV5 ENST00000000412.1 ENST00000000412.2 ENST00000000412.3 ENST00000000412.4 ENST00000000412.5 ENST00000000412.6 ENST00000000412.7 MPR46 MPRD MPRD_HUMAN NM_002355 P20645 uc001qvf.1 uc001qvf.2 uc001qvf.3 uc001qvf.4 uc001qvf.5 This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]. Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. Homodimer. Binds GGA1, GGA2 and GGA3. Lysosome membrane; Single-pass type I membrane protein. The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the cation-independent mannose 6-phosphate receptor. This receptor has optimal binding in the presence of divalent cations. transmembrane signaling receptor activity protein binding lysosome lysosomal membrane endosome late endosome Golgi apparatus trans-Golgi network plasma membrane integral component of plasma membrane protein targeting to lysosome receptor-mediated endocytosis lysosomal transport endosome to lysosome transport membrane integral component of membrane protein domain specific binding transport vesicle clathrin-coated vesicle membrane trans-Golgi network membrane secretion of lysosomal enzymes perinuclear region of cytoplasm membrane organization retromer complex binding  uc001qvf.1 uc001qvf.2 uc001qvf.3 uc001qvf.4 uc001qvf.5 
ENST00000000442.11 ESRRA ENST00000000442.11 Homo sapiens estrogen related receptor alpha (ESRRA), transcript variant 1, mRNA. (from RefSeq NM_004451) ENST00000000442.1 ENST00000000442.10 ENST00000000442.2 ENST00000000442.3 ENST00000000442.4 ENST00000000442.5 ENST00000000442.6 ENST00000000442.7 ENST00000000442.8 ENST00000000442.9 NM_004451 NR3B1 Q569H8 Q569H8_HUMAN Q6P3W9 hCG_2016877 uc001nzq.1 uc001nzq.2 uc001nzq.3 uc001nzq.4 The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]. Belongs to the nuclear hormone receptor family. Contains 1 nuclear receptor DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity steroid binding nucleus regulation of transcription, DNA-templated zinc ion binding microtubule cytoskeleton regulation of ossification response to estradiol regulation of cell proliferation steroid hormone mediated signaling pathway sequence-specific DNA binding intercellular bridge regulation of osteoblast differentiation regulation of osteoclast differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding cartilage development positive regulation of cellular response to insulin stimulus  uc001nzq.1 uc001nzq.2 uc001nzq.3 uc001nzq.4 
ENST00000001008.6 FKBP4 ENST00000001008.6 Homo sapiens FKBP prolyl isomerase 4 (FKBP4), mRNA. (from RefSeq NM_002014) D3DUQ1 ENST00000001008.1 ENST00000001008.2 ENST00000001008.3 ENST00000001008.4 ENST00000001008.5 FKBP4_HUMAN FKBP52 NM_002014 Q02790 Q9UCP1 Q9UCV7 uc001qkz.1 uc001qkz.2 uc001qkz.3 uc001qkz.4 uc001qkz.5 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.159743.1, SRR1803615.213037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000001008.6/ ENSP00000001008.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Immunophilin protein with PPIase and co-chaperone activities (By similarity). Component of unligated steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments (By similarity). The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. Peptidylproline (omega=180) = peptidylproline (omega=0). Inhibited by FK506. Homodimer. Associates with HSP90 and HSP70 in unactivated steroid hormone receptor complexes. Also interacts with peroxisomal phytanoyl-CoA alpha-hydroxylase (PHYH). Interacts with HSF1 in the HSP90 complex. Associates with tubulin (By similarity). Interacts with MAPT/TAU (By similarity). Interacts with NR3C1 and dynein (By similarity). Interacts (via TPR domain) with S100A1, S100A2 and S100A6; the interaction is Ca(2+) dependent. Interaction with S100A1 and S100A2 (but not with S100A6) leads to inhibition of FKBP4-HSP90 interaction. Cytoplasm, cytosol (By similarity). Nucleus. Cytoplasm, cytoskeleton (By similarity). Widely expressed. The PPIase activity is mainly due to the fisrt PPIase FKBP-type domain (1-138 AA) (By similarity). The C-terminal region (AA 375-458) is required to prevent tubulin polymerization (By similarity). The chaperone activity resides in the C-terminal region, mainly between amino acids 264 and 400 (By similarity). Phosphorylation by CK2 results in loss of HSP90 binding activity (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 2 PPIase FKBP-type domains. Contains 3 TPR repeats. Name=Protein Spotlight; Note=A mind astray - Issue 118 of June 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt118.shtml"; protein peptidyl-prolyl isomerization RNA binding peptidyl-prolyl cis-trans isomerase activity protein binding ATP binding GTP binding FK506 binding nucleus nucleoplasm cytoplasm mitochondrion cytosol cytoskeleton microtubule protein folding steroid hormone receptor complex assembly copper ion transport embryo implantation negative regulation of neuron projection development isomerase activity axon androgen receptor signaling pathway protein binding, bridging prostate gland development heat shock protein binding negative regulation of microtubule polymerization or depolymerization negative regulation of microtubule polymerization protein complex localization copper-dependent protein binding macromolecular complex glucocorticoid receptor binding cell projection neuron projection neuronal cell body axonal growth cone male sex differentiation tau protein binding perinuclear region of cytoplasm reproductive structure development phosphoprotein binding chaperone-mediated protein folding extracellular exosome regulation of cellular response to heat  uc001qkz.1 uc001qkz.2 uc001qkz.3 uc001qkz.4 uc001qkz.5 
ENST00000001146.7 CYP26B1 ENST00000001146.7 Homo sapiens cytochrome P450 family 26 subfamily B member 1 (CYP26B1), transcript variant 1, mRNA. (from RefSeq NM_019885) B2R8M7 B7Z2K6 B7Z2P4 B7Z3B8 CP26B_HUMAN CYP26A2 E4W5W7 ENST00000001146.1 ENST00000001146.2 ENST00000001146.3 ENST00000001146.4 ENST00000001146.5 ENST00000001146.6 NM_019885 P450RAI2 Q32MC0 Q53TW1 Q9NP41 Q9NR63 uc002sih.1 uc002sih.2 uc002sih.3 uc002sih.4 This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH- RA. Esential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Microsome membrane; Peripheral membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR63-1; Sequence=Displayed; Name=2; IsoId=Q9NR63-2; Sequence=VSP_042968; Name=3; IsoId=Q9NR63-3; Sequence=VSP_042967; Note=No experimental confirmation available; Highly expressed in brain, particularly in the cerebellum and pons. By retinoic acid. Defects in CYP26B1 are the cause of radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]. A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. Belongs to the cytochrome P450 family. Sequence=BAH12154.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp26b1/"; C-22 sterol desaturase activity cell fate determination establishment of T cell polarity kidney development retinoic acid binding monooxygenase activity iron ion binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane ergosterol biosynthetic process vitamin metabolic process xenobiotic metabolic process inflammatory response male meiosis spermatogenesis retinoic acid 4-hydroxylase activity proximal/distal pattern formation positive regulation of gene expression membrane sterol metabolic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen heme binding embryonic limb morphogenesis organelle membrane response to retinoic acid response to vitamin A retinoic acid catabolic process intracellular membrane-bounded organelle tongue morphogenesis regulation of T cell differentiation metal ion binding retinoic acid receptor signaling pathway regulation of retinoic acid receptor signaling pathway negative regulation of retinoic acid receptor signaling pathway oxidation-reduction process bone morphogenesis establishment of skin barrier cornification cellular response to retinoic acid positive regulation of tongue muscle cell differentiation  uc002sih.1 uc002sih.2 uc002sih.3 uc002sih.4 
ENST00000002125.9 NDUFAF7 ENST00000002125.9 Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 7 (NDUFAF7), transcript variant 14, non-coding RNA. (from RefSeq NR_146409) C2orf56 ENST00000002125.1 ENST00000002125.2 ENST00000002125.3 ENST00000002125.4 ENST00000002125.5 ENST00000002125.6 ENST00000002125.7 ENST00000002125.8 MIDA_HUMAN NR_146409 PRO1853 Q7L592 Q7Z399 Q9P1G3 uc002rqa.1 uc002rqa.2 uc002rqa.3 uc002rqa.4 uc002rqa.5 uc002rqa.6 uc002rqa.7 This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.138693.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Mitochondrion (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L592-1; Sequence=Displayed; Name=2; IsoId=Q7L592-2; Sequence=VSP_030606, VSP_030607; Note=No experimental confirmation available; Belongs to the midA family. Sequence=AAF71091.1; Type=Erroneous initiation; Sequence=AAH12374.2; Type=Erroneous initiation; protein binding extracellular space mitochondrion mitochondrial matrix methyltransferase activity transferase activity enzyme binding peptidyl-arginine methylation, to symmetrical-dimethyl arginine methylation mitochondrial respiratory chain complex I assembly protein-arginine omega-N symmetric methyltransferase activity  uc002rqa.1 uc002rqa.2 uc002rqa.3 uc002rqa.4 uc002rqa.5 uc002rqa.6 uc002rqa.7 
ENST00000002165.11 FUCA2 ENST00000002165.11 Homo sapiens alpha-L-fucosidase 2 (FUCA2), mRNA. (from RefSeq NM_032020) ENST00000002165.1 ENST00000002165.10 ENST00000002165.2 ENST00000002165.3 ENST00000002165.4 ENST00000002165.5 ENST00000002165.6 ENST00000002165.7 ENST00000002165.8 ENST00000002165.9 FUCO2_HUMAN NM_032020 PSEC0151 Q7Z6Y2 Q8NBK4 Q9BTY2 UNQ227/PRO260 uc003qjm.1 uc003qjm.2 uc003qjm.3 uc003qjm.4 uc003qjm.5 This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.230531.1, SRR1803615.84845.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000002165.11/ ENSP00000002165.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins. An alpha-L-fucoside + H(2)O = L-fucose + an alcohol. Homotetramer (By similarity). Secreted (Probable). Belongs to the glycosyl hydrolase 29 family. alpha-L-fucosidase activity protein binding extracellular region extracellular space lysosome endoplasmic reticulum lumen carbohydrate metabolic process fucose metabolic process metabolic process response to bacterium glycoside catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds azurophil granule lumen neutrophil degranulation post-translational protein modification cellular protein metabolic process extracellular exosome regulation of entry of bacterium into host cell  uc003qjm.1 uc003qjm.2 uc003qjm.3 uc003qjm.4 uc003qjm.5 
ENST00000002501.11 DBNDD1 ENST00000002501.11 Homo sapiens dysbindin domain containing 1 (DBNDD1), transcript variant 1, mRNA. (from RefSeq NM_001042610) B4DQS3 DBND1_HUMAN ENST00000002501.1 ENST00000002501.10 ENST00000002501.2 ENST00000002501.3 ENST00000002501.4 ENST00000002501.5 ENST00000002501.6 ENST00000002501.7 ENST00000002501.8 ENST00000002501.9 NM_001042610 Q69YT2 Q9BW25 Q9H9R9 uc002fqf.1 uc002fqf.2 uc002fqf.3 uc002fqf.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H9R9-1; Sequence=Displayed; Name=2; IsoId=Q9H9R9-2; Sequence=VSP_026214; Name=3; IsoId=Q9H9R9-3; Sequence=VSP_037541; Belongs to the dysbindin family. cytoplasm  uc002fqf.1 uc002fqf.2 uc002fqf.3 uc002fqf.4 
ENST00000002596.6 HS3ST1 ENST00000002596.6 Homo sapiens heparan sulfate-glucosamine 3-sulfotransferase 1 (HS3ST1), mRNA. (from RefSeq NM_005114) 3OST 3OST1 B3KUA6 ENST00000002596.1 ENST00000002596.2 ENST00000002596.3 ENST00000002596.4 ENST00000002596.5 HS3S1_HUMAN NM_005114 O14792 Q6PEY8 uc003gmq.1 uc003gmq.2 uc003gmq.3 uc003gmq.4 uc003gmq.5 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.89832.1, SRR1803615.254596.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000002596.6/ ENSP00000002596.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. 3'-phosphoadenylyl sulfate + [heparan sulfate]-glucosamine = adenosine 3',5'-bisphosphate + [heparan sulfate]-glucosamine 3-sulfate. Golgi apparatus lumen (Probable). Highly expressed in the brain and kidney and weakly expressed in the heart, lung and placenta. Belongs to the sulfotransferase 1 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi apparatus Golgi lumen glycosaminoglycan biosynthetic process sulfotransferase activity [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity transferase activity  uc003gmq.1 uc003gmq.2 uc003gmq.3 uc003gmq.4 uc003gmq.5 
ENST00000002829.8 SEMA3F ENST00000002829.8 Homo sapiens semaphorin 3F (SEMA3F), transcript variant 1, mRNA. (from RefSeq NM_004186) ENST00000002829.1 ENST00000002829.2 ENST00000002829.3 ENST00000002829.4 ENST00000002829.5 ENST00000002829.6 ENST00000002829.7 NM_004186 Q13274 Q13275 Q13372 Q15704 Q6GTR4 SEM3F_HUMAN uc003cyj.1 uc003cyj.2 uc003cyj.3 uc003cyj.4 uc003cyj.5 This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. May play a role in cell motility and cell adhesion. Secreted (By similarity). Expressed abundantly but differentially in a variety of neural and nonneural tissues. There is high expression in mammary gland, kidney, fetal brain, and lung and lower expression in heart and liver. Detected as early as embryonic day 10. Belongs to the semaphorin family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Sema domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SEMA3FID42254ch3p21.html"; neural crest cell migration extracellular region extracellular space integral component of plasma membrane axon guidance facial nerve structural organization trigeminal nerve structural organization nerve development branchiomotor neuron axon guidance semaphorin receptor binding positive regulation of cell migration ventral trunk neural crest cell migration chemorepellent activity negative regulation of axon extension involved in axon guidance axon extension involved in axon guidance negative chemotaxis sympathetic ganglion development semaphorin-plexin signaling pathway sympathetic neuron projection extension sympathetic neuron projection guidance glutamatergic synapse neural crest cell migration involved in autonomic nervous system development semaphorin-plexin signaling pathway involved in neuron projection guidance semaphorin-plexin signaling pathway involved in axon guidance  uc003cyj.1 uc003cyj.2 uc003cyj.3 uc003cyj.4 uc003cyj.5 
ENST00000003084.11 CFTR ENST00000003084.11 Homo sapiens CF transmembrane conductance regulator (CFTR), mRNA. (from RefSeq NM_000492) ABCC7 CFTR_HUMAN ENST00000003084.1 ENST00000003084.10 ENST00000003084.2 ENST00000003084.3 ENST00000003084.4 ENST00000003084.5 ENST00000003084.6 ENST00000003084.7 ENST00000003084.8 ENST00000003084.9 NM_000492 P13569 Q20BG8 Q20BH2 Q2I0A1 Q2I102 uc003vjd.1 uc003vjd.2 uc003vjd.3 uc003vjd.4 uc003vjd.5 This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M28668.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000003084.11/ ENSP00000003084.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. ATP + H(2)O = ADP + phosphate. Interacts with SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. P51572:BCAP31; NbExp=3; IntAct=EBI-349854, EBI-77683; Q9BUN8:DERL1; NbExp=2; IntAct=EBI-349854, EBI-398977; Q9H8Y8:GORASP2; NbExp=3; IntAct=EBI-349854, EBI-739467; Q9HBW0:LPAR2; NbExp=4; IntAct=EBI-349854, EBI-765995; Q5T2W1:PDZK1; NbExp=2; IntAct=EBI-349854, EBI-349819; Q99942:RNF5; NbExp=3; IntAct=EBI-349854, EBI-348482; Q96RN1:SLC26A8; NbExp=2; IntAct=EBI-349854, EBI-1792052; O14745:SLC9A3R1; NbExp=2; IntAct=EBI-349854, EBI-349787; Q15599:SLC9A3R2; NbExp=4; IntAct=EBI-349854, EBI-1149760; Early endosome membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13569-1; Sequence=Displayed; Name=2; IsoId=P13569-2; Sequence=VSP_022123; Note=Exon skipping favored by a high number of TG repeats and a low number of T repeats at the intron-exon boundary. Causes congenital bilateral absence of the vas deferens (CBAVD); Name=3; IsoId=P13569-3; Sequence=VSP_022124, VSP_022125; Note=Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF); Found on the surface of the epithelial cells that line the lungs and other organs. The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex. Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. Phosphorylated by AMPK. Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its endocytic recycling. Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:219700]; also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]. CBAVD is an important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains. Name=CFTR; Note=Cystic fibrosis mutation db; URL="http://www.genet.sickkids.on.ca/cftr/app"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFTR"; Name=Wikipedia; Note=CFTR entry; URL="http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator"; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P13569"; nucleotide binding chloride channel activity channel-conductance-controlling ATPase activity protein binding ATP binding nucleus cytoplasm lysosomal membrane endosome early endosome endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane integral component of plasma membrane cholesterol biosynthetic process ion transport chloride transport vesicle docking involved in exocytosis cell surface endosome membrane bicarbonate transmembrane transporter activity chloride transmembrane transporter activity bicarbonate transport membrane integral component of membrane apical plasma membrane protein deubiquitination isomerase activity ATPase activity chloride channel regulator activity chloride channel inhibitor activity enzyme binding PDZ domain binding cholesterol transport Golgi-associated vesicle membrane clathrin-coated vesicle membrane early endosome membrane macromolecular complex chloride channel complex response to endoplasmic reticulum stress transepithelial water transport positive regulation of insulin secretion involved in cellular response to glucose stimulus ATPase activity, coupled to transmembrane movement of substances positive regulation of exocytosis sperm capacitation multicellular organismal water homeostasis chaperone binding intracellular pH elevation recycling endosome recycling endosome membrane transmembrane transport membrane hyperpolarization membrane organization cellular response to cAMP positive regulation of cyclic nucleotide-gated ion channel activity chloride transmembrane transport positive regulation of voltage-gated chloride channel activity cellular response to forskolin  uc003vjd.1 uc003vjd.2 uc003vjd.3 uc003vjd.4 uc003vjd.5 
ENST00000003100.13 CYP51A1 ENST00000003100.13 Homo sapiens cytochrome P450 family 51 subfamily A member 1 (CYP51A1), transcript variant 1, mRNA. (from RefSeq NM_000786) A4D1F8 B2RAI4 B4DJ55 CP51A_HUMAN CYP51 ENST00000003100.1 ENST00000003100.10 ENST00000003100.11 ENST00000003100.12 ENST00000003100.2 ENST00000003100.3 ENST00000003100.4 ENST00000003100.5 ENST00000003100.6 ENST00000003100.7 ENST00000003100.8 ENST00000003100.9 NM_000786 O00770 O00772 Q16784 Q16850 Q8N1A8 Q99868 uc003ulm.1 uc003ulm.2 uc003ulm.3 uc003ulm.4 uc003ulm.5 uc003ulm.6 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol. Obtusifoliol + 3 O(2) + 3 NADPH = 4-alpha- methyl-5-alpha-ergosta-8,14,24(28)-trien-3-beta-ol + formate + 3 NADP(+) + 4 H(2)O. Heme group (By similarity). Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6. Endoplasmic reticulum membrane (Potential). Microsome membrane (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16850-1; Sequence=Displayed; Name=2; IsoId=Q16850-2; Sequence=VSP_037413; Note=No experimental confirmation available; Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung. Belongs to the cytochrome P450 family. Sequence=AAB39951.1; Type=Erroneous initiation; Sequence=AAB46356.1; Type=Erroneous initiation; Sequence=AAH32322.1; Type=Erroneous initiation; Sequence=BAA09512.1; Type=Erroneous initiation; Sequence=BAG36881.1; Type=Erroneous initiation; Sequence=EAL24154.1; Type=Erroneous initiation; Sequence=EAW76858.1; Type=Erroneous initiation; monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane plasma membrane lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process steroid metabolic process cholesterol metabolic process sterol 14-demethylase activity membrane integral component of membrane sterol metabolic process sterol biosynthetic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding organelle membrane cholesterol biosynthetic process via 24,25-dihydrolanosterol negative regulation of protein catabolic process intracellular membrane-bounded organelle regulation of cholesterol biosynthetic process metal ion binding negative regulation of protein secretion oxidation-reduction process demethylation negative regulation of beta-amyloid clearance  uc003ulm.1 uc003ulm.2 uc003ulm.3 uc003ulm.4 uc003ulm.5 uc003ulm.6 
ENST00000003302.8 USP28 ENST00000003302.8 Homo sapiens ubiquitin specific peptidase 28 (USP28), transcript variant 1, mRNA. (from RefSeq NM_020886) B0YJC0 B0YJC1 ENST00000003302.1 ENST00000003302.2 ENST00000003302.3 ENST00000003302.4 ENST00000003302.5 ENST00000003302.6 ENST00000003302.7 KIAA1515 NM_020886 Q96RU2 Q9P213 UBP28_HUMAN uc001poh.1 uc001poh.2 uc001poh.3 uc001poh.4 The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, Oct 2016]. Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Interacts with isoform 1 of FBXW7; following DNA damage, dissociates from FBXW7 leading to degradation of MYC. Nucleus, nucleoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96RU2-1; Sequence=Displayed; Name=2; IsoId=Q96RU2-2; Sequence=VSP_015580; Down-regulated upon hypoxia. Degradaded upon nickel ion level or hypoxia exposure. Phosphorylated upon DNA damage at Ser-67 and Ser-714, by ATM or ATR. Belongs to the peptidase C19 family. USP28 subfamily. Contains 1 UIM (ubiquitin-interacting motif) repeat. DNA damage checkpoint cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm DNA repair proteolysis ubiquitin-dependent protein catabolic process cellular response to DNA damage stimulus Ras protein signal transduction peptidase activity cysteine-type peptidase activity cell proliferation response to ionizing radiation protein deubiquitination nuclear body hydrolase activity regulation of protein stability macromolecular complex cellular response to UV thiol-dependent ubiquitinyl hydrolase activity intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  uc001poh.1 uc001poh.2 uc001poh.3 uc001poh.4 
ENST00000003583.12 STPG1 ENST00000003583.12 Homo sapiens sperm tail PG-rich repeat containing 1 (STPG1), transcript variant 3, mRNA. (from RefSeq NM_178122) C1orf201 ENST00000003583.1 ENST00000003583.10 ENST00000003583.11 ENST00000003583.2 ENST00000003583.3 ENST00000003583.4 ENST00000003583.5 ENST00000003583.6 ENST00000003583.7 ENST00000003583.8 ENST00000003583.9 NM_178122 Q49AP0 Q5TH74 Q6P3R4 Q86VU9 Q8WVQ3 STPG1_HUMAN uc001bja.1 uc001bja.2 uc001bja.3 uc001bja.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5TH74-1; Sequence=Displayed; Name=2; IsoId=Q5TH74-2; Sequence=VSP_028252; Name=3; IsoId=Q5TH74-3; Sequence=VSP_028253, VSP_028254; Belongs to the STPG1 family. Contains 5 STPGR (Sperm-tail PG-rich) repeats. molecular_function nucleus cytoplasm mitochondrion apoptotic process positive regulation of apoptotic process positive regulation of protein homodimerization activity positive regulation of mitochondrial membrane permeability involved in apoptotic process  uc001bja.1 uc001bja.2 uc001bja.3 uc001bja.4 
ENST00000003912.7 NIPAL3 ENST00000003912.7 Homo sapiens NIPA like domain containing 3 (NIPAL3), transcript variant 11, mRNA. (from RefSeq NM_001322863) A2A298 ENST00000003912.1 ENST00000003912.2 ENST00000003912.3 ENST00000003912.4 ENST00000003912.5 ENST00000003912.6 NM_001322863 NPAL3 NPAL3_HUMAN Q6MZT9 Q6P499 Q9BVE6 uc009vrc.1 uc009vrc.2 uc009vrc.3 uc009vrc.4 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P499-1; Sequence=Displayed; Name=2; IsoId=Q6P499-2; Sequence=VSP_019445; Note=No experimental confirmation available; Name=3; IsoId=Q6P499-3; Sequence=VSP_019446, VSP_019447; Note=No experimental confirmation available; Belongs to the NIPA family. protein binding magnesium ion transmembrane transporter activity magnesium ion transport membrane integral component of membrane magnesium ion transmembrane transport  uc009vrc.1 uc009vrc.2 uc009vrc.3 uc009vrc.4 
ENST00000004103.8 TMEM176A ENST00000004103.8 Homo sapiens transmembrane protein 176A (TMEM176A), mRNA. (from RefSeq NM_018487) D3DX00 ENST00000004103.1 ENST00000004103.2 ENST00000004103.3 ENST00000004103.4 ENST00000004103.5 ENST00000004103.6 ENST00000004103.7 HCA112 NM_018487 Q96HP8 Q9NYC7 T176A_HUMAN uc003whx.1 uc003whx.2 uc003whx.3 Membrane; Multi-pass membrane protein (Potential). Belongs to the TMEM176 family. membrane integral component of membrane negative regulation of dendritic cell differentiation  uc003whx.1 uc003whx.2 uc003whx.3 
ENST00000004531.14 SLC7A2 ENST00000004531.14 Homo sapiens solute carrier family 7 member 2 (SLC7A2), transcript variant 3, mRNA. (from RefSeq NM_001164771) ATRC2 B7ZL54 CAT2 CTR2_HUMAN ENST00000004531.1 ENST00000004531.10 ENST00000004531.11 ENST00000004531.12 ENST00000004531.13 ENST00000004531.2 ENST00000004531.3 ENST00000004531.4 ENST00000004531.5 ENST00000004531.6 ENST00000004531.7 ENST00000004531.8 ENST00000004531.9 NM_001164771 O15291 O15292 P52569 Q14CQ6 Q6NSZ7 Q86TC6 uc011kye.1 uc011kye.2 uc011kye.3 The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069648.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## Low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine). Plays a regulatory role in classical or alternative activation of macrophages (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=CAT-2B; IsoId=P52569-1; Sequence=Displayed; Name=2; Synonyms=CAT-2A; IsoId=P52569-2; Sequence=VSP_037354, VSP_023354; Note=Ref.2 (AAB62810) sequence differs from that shown due to a frameshift in position 29; Name=3; IsoId=P52569-3; Sequence=VSP_037354; Note=No experimental confirmation available; Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. Sequence=AAH69648.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI04906.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI13662.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI43584.1; Type=Erroneous initiation; Note=Translation N-terminally extended; L-ornithine transmembrane transporter activity nitric oxide production involved in inflammatory response plasma membrane integral component of plasma membrane nitric oxide biosynthetic process amino acid transport amino acid transmembrane transporter activity basic amino acid transmembrane transporter activity arginine transmembrane transporter activity L-lysine transmembrane transporter activity arginine transport membrane integral component of membrane transmembrane transporter activity cell junction macrophage activation regulation of macrophage activation regulation of inflammatory response transmembrane transport L-arginine transmembrane transporter activity L-arginine import across plasma membrane L-arginine transport L-ornithine transmembrane transport L-lysine transmembrane transport  uc011kye.1 uc011kye.2 uc011kye.3 
ENST00000004982.6 HSPB6 ENST00000004982.6 Homo sapiens heat shock protein family B (small) member 6 (HSPB6), mRNA. (from RefSeq NM_144617) ENST00000004982.1 ENST00000004982.2 ENST00000004982.3 ENST00000004982.4 ENST00000004982.5 NM_144617 V9HWB6 uc002obn.1 uc002obn.2 uc002obn.3 uc002obn.4 uc002obn.5 This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK056951.1, SRR3476690.1067911.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000004982.6/ ENSP00000004982.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc002obn.1 uc002obn.2 uc002obn.3 uc002obn.4 uc002obn.5 
ENST00000005082.13 ZNF195 ENST00000005082.13 Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 2, mRNA. (from RefSeq NM_001130519) A8K234 B3KTK2 B4DEL0 ENST00000005082.1 ENST00000005082.10 ENST00000005082.11 ENST00000005082.12 ENST00000005082.2 ENST00000005082.3 ENST00000005082.4 ENST00000005082.5 ENST00000005082.6 ENST00000005082.7 ENST00000005082.8 ENST00000005082.9 NM_001130519 O14628 Q0VAJ6 Q658N8 Q6ZNA9 ZN195_HUMAN ZNFP104 uc001lxv.1 uc001lxv.2 uc001lxv.3 uc001lxv.4 This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms' tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=A; IsoId=O14628-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O14628-2; Sequence=Not described; Name=3; Synonyms=C; IsoId=O14628-3; Sequence=Not described; Name=4; IsoId=O14628-4; Sequence=VSP_036880; Name=5; IsoId=O14628-5; Sequence=VSP_036881; Name=6; IsoId=O14628-6; Sequence=VSP_036879, VSP_036881; Name=7; IsoId=O14628-7; Sequence=VSP_036879, VSP_036880; Expressed in adult heart, brain, placenta, skeletal muscle and pancreas, and in fetal lung, kidney and brain. There is little expression in adult lung, liver and kidney. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 10 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAG57121.1; Type=Frameshift; Positions=118; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated zinc ion binding metal ion binding  uc001lxv.1 uc001lxv.2 uc001lxv.3 uc001lxv.4 
ENST00000005178.6 PDK4 ENST00000005178.6 Homo sapiens pyruvate dehydrogenase kinase 4 (PDK4), mRNA. (from RefSeq NM_002612) ENST00000005178.1 ENST00000005178.2 ENST00000005178.3 ENST00000005178.4 ENST00000005178.5 NM_002612 PDHK4 PDK4_HUMAN Q16654 uc003uoa.1 uc003uoa.2 uc003uoa.3 uc003uoa.4 uc003uoa.5 This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.60745.1, SRR1660805.157673.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000005178.6/ ENSP00000005178.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism. ATP + [pyruvate dehydrogenase (acetyl- transferring)] = ADP + [pyruvate dehydrogenase (acetyl- transferring)] phosphate. Mitochondrion matrix. Ubiquitous; highest levels of expression in heart and skeletal muscle. Belongs to the PDK/BCKDK protein kinase family. Contains 1 histidine kinase domain. nucleotide binding protein kinase activity pyruvate dehydrogenase (acetyl-transferring) kinase activity ATP binding mitochondrion mitochondrial matrix carbohydrate metabolic process glucose metabolic process protein phosphorylation regulation of pH insulin receptor signaling pathway cellular response to starvation regulation of acetyl-CoA biosynthetic process from pyruvate regulation of cellular ketone metabolic process regulation of glucose metabolic process kinase activity phosphorylation transferase activity regulation of fatty acid biosynthetic process glucose homeostasis response to starvation regulation of bone resorption regulation of fatty acid oxidation cellular response to fatty acid reactive oxygen species metabolic process negative regulation of anoikis  uc003uoa.1 uc003uoa.2 uc003uoa.3 uc003uoa.4 uc003uoa.5 
ENST00000005180.9 CCL26 ENST00000005180.9 Homo sapiens C-C motif chemokine ligand 26 (CCL26), transcript variant 2, mRNA. (from RefSeq NM_001371938) A0N0Q5 CCL26_HUMAN ENST00000005180.1 ENST00000005180.2 ENST00000005180.3 ENST00000005180.4 ENST00000005180.5 ENST00000005180.6 ENST00000005180.7 ENST00000005180.8 NM_001371938 Q52LV8 Q9Y258 SCYA26 UNQ216/PRO242 uc064emt.1 uc064emt.2 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008]. Chemotactic for eosinophils and basophils. Binds to CCR3. Monomer. Secreted. Ubiquitously expressed at low levels in various tissues including heart and ovary. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL26 entry; URL="http://en.wikipedia.org/wiki/CCL26"; positive regulation of endothelial cell proliferation monocyte chemotaxis cytokine activity protein binding extracellular region extracellular space chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity T cell chemotaxis positive regulation of cell migration neutrophil chemotaxis positive regulation of actin filament polymerization CCR3 chemokine receptor binding positive regulation of GTPase activity receptor agonist activity CCR chemokine receptor binding lymphocyte chemotaxis positive regulation of chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor  uc064emt.1 uc064emt.2 
ENST00000005226.12 USH1C ENST00000005226.12 Homo sapiens USH1 protein network component harmonin (USH1C), transcript variant b3, mRNA. (from RefSeq NM_153676) A8K423 AIE75 ENST00000005226.1 ENST00000005226.10 ENST00000005226.11 ENST00000005226.2 ENST00000005226.3 ENST00000005226.4 ENST00000005226.5 ENST00000005226.6 ENST00000005226.7 ENST00000005226.8 ENST00000005226.9 NM_153676 Q7RTU8 Q96B29 Q9UM04 Q9UM17 Q9UPC3 Q9Y6N9 USH1C_HUMAN uc001mne.1 uc001mne.2 uc001mne.3 uc001mne.4 uc001mne.5 This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity). Interacts with F-actin. Interacts with HARP (By similarity). Interacts with USH1G/SANS, USH2A and SLC4A7. Interacts (via the first PDZ domain) with the C-terminus of USHBP1. Interacts (via N-terminus and second PDZ domain) with CDH23. Part of a complex composed of USH1C, USH1G and MYO7A. Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9Y6N9-1; Sequence=Displayed; Name=2; IsoId=Q9Y6N9-2; Sequence=VSP_003789; Name=3; IsoId=Q9Y6N9-3; Sequence=VSP_003790; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=4; IsoId=Q9Y6N9-4; Sequence=VSP_007422; Note=No experimental confirmation available; Name=5; IsoId=Q9Y6N9-5; Sequence=VSP_043520, VSP_043521; Note=No experimental confirmation available; Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:276904]; also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18) [MIM:602092]. DFNB18 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Contains 3 PDZ (DHR) domains. Sequence=AAC18049.1; Type=Frameshift; Positions=552; Name=Mutations of the USH1C gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/ush1cmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH1C"; G2/M transition of mitotic cell cycle photoreceptor outer segment photoreceptor inner segment stereocilia ankle link stereocilia ankle link complex protein binding cytoplasm cytosol cytoskeleton plasma membrane microvillus brush border sensory perception of sound parallel actin filament bundle assembly cell differentiation spectrin binding stereocilium stereocilium tip regulation of microvillus length cellular macromolecular complex assembly inner ear morphogenesis auditory receptor cell differentiation cell projection apical part of cell synapse photoreceptor cell maintenance retinal cone cell development sensory perception of light stimulus equilibrioception actin filament binding actin filament bundle assembly inner ear receptor stereocilium organization protein localization to microvillus brush border assembly photoreceptor connecting cilium  uc001mne.1 uc001mne.2 uc001mne.3 uc001mne.4 uc001mne.5 
ENST00000005257.7 RALA ENST00000005257.7 Homo sapiens RAS like proto-oncogene A (RALA), mRNA. (from RefSeq NM_005402) A4D1W3 ENST00000005257.1 ENST00000005257.2 ENST00000005257.3 ENST00000005257.4 ENST00000005257.5 ENST00000005257.6 NM_005402 P11233 RAL RALA_HUMAN uc003thd.1 uc003thd.2 uc003thd.3 uc003thd.4 uc003thd.5 The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.815446.1, SRR1803612.213239.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005257.7/ ENSP00000005257.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. Plays a role in the early stages of cytokinesis and is required to tether the exocyst to the cytokinetic furrow. The RALA-exocyst complex regulates integrin- dependent membrane raft exocytosis and growth signaling. Key regulator of LPAR1 signaling and competes with ADRBK1 for binding to LPAR1 thus affecting the signaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells. Alternate between an inactive form bound to GDP and an active form bound to GTP. Activated by a guanine nucleotide-exchange factor (GEF) and inactivated by a GTPase- activating protein (GAP). Interacts with RALBP1 via its effector domain. Interacts with EXOC8 and EXOC2. EXOC2 and EXOC8 have overlapping binding sites and compete for RALA binding. Interacts with Clostridium exoenzyme C3. Interacts with RALGPS1. Interacts with LPAR1 and LPAR2. Interacts with ADRBK1 in response to LPAR1 activation. RALA and ADRBK1 mutually inhibit each other's binding to LPAR1. O54921:Exoc2 (xeno); NbExp=2; IntAct=EBI-1036803, EBI-1036795; P30154:PPP2R1B; NbExp=6; IntAct=EBI-1036803, EBI-357094; Cell surface. Cell membrane; Lipid-anchor; Cytoplasmic side. Cleavage furrow. Midbody. Note=Prior to LPA treatment found predominantly at the cell surface and in the presence of LPA co-localizes with LPAR1 and LPAR2 in the endocytic vesicles. During early cytokinesis localizes at the cleavage furrow membrane. Colocalizes with EXOC2 at the early midbody ring and persists there till maturation of the midbody. Activated in an LPA-dependent manner by LPAR1 and in an LPA-independent manner by LPAR2. Prenylation is essential for membrane localization. The geranylgeranylated form and the farnesylated mutant does not undergo alternative prenylation in response to geranylgeranyltransferase I inhibitors (GGTIs) and farnesyltransferase I inhibitors (FTIs). Belongs to the small GTPase superfamily. Ras family. nucleotide binding neural tube closure GTPase activity protein binding GTP binding plasma membrane focal adhesion exocytosis chemotaxis cell cycle signal transduction Ras protein signal transduction cell surface membrane myosin binding regulation of exocytosis GDP binding cytoplasmic vesicle membrane actin cytoskeleton reorganization ubiquitin protein ligase binding Edg-2 lysophosphatidic acid receptor binding cleavage furrow interleukin-12-mediated signaling pathway ATPase binding cell division positive regulation of filopodium assembly membrane raft localization membrane organization extracellular exosome Flemming body endocytic vesicle  uc003thd.1 uc003thd.2 uc003thd.3 uc003thd.4 uc003thd.5 
ENST00000005259.9 BCAP29 ENST00000005259.9 Homo sapiens B cell receptor associated protein 29 (BCAP29), transcript variant 23, non-coding RNA. (from RefSeq NR_163938) BAP29 BAP29_HUMAN ENST00000005259.1 ENST00000005259.2 ENST00000005259.3 ENST00000005259.4 ENST00000005259.5 ENST00000005259.6 ENST00000005259.7 ENST00000005259.8 NR_163938 O95003 Q9UHQ4 uc003vej.1 uc003vej.2 uc003vej.3 uc003vej.4 May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis (By similarity). Homodimer and heterodimer with BCAP31. Binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 and/or BCL2L1. Interacts with VAMP3, VAMP1 and membrane IgD immunoglobulins. May interact with ACTG1 and non-muscle myosin II (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Belongs to the BCAP29/BCAP31 family. osteoblast differentiation endoplasmic reticulum endoplasmic reticulum membrane integral component of plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport apoptotic process protein transport membrane integral component of membrane vesicle-mediated transport protein localization to endoplasmic reticulum exit site  uc003vej.1 uc003vej.2 uc003vej.3 uc003vej.4 
ENST00000005260.9 BAIAP2L1 ENST00000005260.9 Homo sapiens BAR/IMD domain containing adaptor protein 2 like 1 (BAIAP2L1), mRNA. (from RefSeq NM_018842) A4D268 BI2L1_HUMAN ENST00000005260.1 ENST00000005260.2 ENST00000005260.3 ENST00000005260.4 ENST00000005260.5 ENST00000005260.6 ENST00000005260.7 ENST00000005260.8 IRTKS NM_018842 Q75L21 Q75L22 Q96CV4 Q9H5F5 Q9UHR4 Q9Y2M8 uc003upj.1 uc003upj.2 uc003upj.3 uc003upj.4 uc003upj.5 This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.72776.1, AF119666.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005260.9/ ENSP00000005260.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Interacts with RAC1. Binds to F-actin. Interacts with FASLG. Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Interacts with E.coli intimin receptor Tir. Cytoplasm, cytoskeleton. Note=Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites. The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity). Phosphorylated on tyrosine in response to insulin. Contains 1 IMD (IRSp53/MIM homology) domain. Contains 1 SH3 domain. Sequence=AAD20937.1; Type=Erroneous gene model prediction; Sequence=AAS07549.1; Type=Erroneous initiation; Sequence=BAB15671.1; Type=Erroneous initiation; actin binding protein binding nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane cell-cell adherens junction plasma membrane organization response to bacterium actin cytoskeleton regulation of actin filament polymerization positive regulation of actin filament polymerization regulation of insulin receptor signaling pathway actin filament bundle assembly actin crosslink formation extracellular exosome proline-rich region binding cell-cell adhesion cadherin binding involved in cell-cell adhesion positive regulation of actin cytoskeleton reorganization  uc003upj.1 uc003upj.2 uc003upj.3 uc003upj.4 uc003upj.5 
ENST00000005284.4 CACNG3 ENST00000005284.4 Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 3 (CACNG3), mRNA. (from RefSeq NM_006539) CCG3_HUMAN ENST00000005284.1 ENST00000005284.2 ENST00000005284.3 NM_006539 O60359 uc002dmf.1 uc002dmf.2 uc002dmf.3 uc002dmf.4 uc002dmf.5 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.263009.1, SRR1803613.49646.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005284.4/ ENSP00000005284.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state (By similarity). The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG4, CACNG5, CACNG7 and CACNG8 (By similarity). Membrane; Multi-pass membrane protein. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity plasma membrane voltage-gated calcium channel complex protein targeting ion transport calcium ion transport protein localization membrane integral component of membrane transmission of nerve impulse PDZ domain binding dendrite endocytic vesicle membrane AMPA glutamate receptor complex regulation of ion transmembrane transport ionotropic glutamate receptor binding somatodendritic compartment excitatory synapse cardiac conduction calcium ion transmembrane transport postsynaptic density membrane neurotransmitter receptor transport, postsynaptic endosome to lysosome postsynaptic neurotransmitter receptor diffusion trapping glutamatergic synapse integral component of postsynaptic density membrane neurotransmitter receptor internalization neurotransmitter receptor localization to postsynaptic specialization membrane regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  uc002dmf.1 uc002dmf.2 uc002dmf.3 uc002dmf.4 uc002dmf.5 
ENST00000005286.8 TMEM132A ENST00000005286.8 Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. (from RefSeq NM_017870) ENST00000005286.1 ENST00000005286.2 ENST00000005286.3 ENST00000005286.4 ENST00000005286.5 ENST00000005286.6 ENST00000005286.7 HSPA5BP1 KIAA1583 NM_017870 Q24JP5 Q69YU7 Q86VZ8 Q86W97 Q9H8K3 Q9HCI9 Q9NWY0 T132A_HUMAN uc001nqi.1 uc001nqi.2 uc001nqi.3 uc001nqi.4 This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity). Interacts with HSPA5/GRP78 (By similarity). Golgi apparatus membrane; Single-pass type I membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q24JP5-1; Sequence=Displayed; Name=2; IsoId=Q24JP5-2; Sequence=VSP_025304; Note=No experimental confirmation available; Name=3; IsoId=Q24JP5-3; Sequence=VSP_025302, VSP_025305, VSP_025306; Note=No experimental confirmation available; Name=4; IsoId=Q24JP5-4; Sequence=VSP_025303, VSP_025304; Note=No experimental confirmation available; Belongs to the TMEM132 family. Sequence=BAB13409.1; Type=Erroneous initiation; Sequence=BAB14613.1; Type=Erroneous initiation; Golgi membrane molecular_function endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane Golgi apparatus biological_process membrane integral component of membrane post-translational protein modification cellular protein metabolic process extracellular exosome  uc001nqi.1 uc001nqi.2 uc001nqi.3 uc001nqi.4 
ENST00000005340.10 DVL2 ENST00000005340.10 Homo sapiens dishevelled segment polarity protein 2 (DVL2), mRNA. (from RefSeq NM_004422) D3DTN3 DVL2_HUMAN ENST00000005340.1 ENST00000005340.2 ENST00000005340.3 ENST00000005340.4 ENST00000005340.5 ENST00000005340.6 ENST00000005340.7 ENST00000005340.8 ENST00000005340.9 NM_004422 O14641 Q53XM0 uc002gez.1 uc002gez.2 uc002gez.3 This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014844.1, SRR1660803.149730.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005340.10/ ENSP00000005340.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes (By similarity). Interacts through its PDZ domain with the C-terminal regions of VANGL1 and VANGL2. Interacts with Rac. Interacts with ARRB1; the interaction is enhanced by phosphorylation of DVL1 (By similarity). Can form large oligomers (via DIX domain). Interacts (via DIX domain) with DIXDC1 (via DIX domain). Interacts (via DEP domain) with AP2M1 and the AP-2 complex (By similarity). Interacts with DACT1. Self; NbExp=2; IntAct=EBI-740850, EBI-740850; Q9NYF0:DACT1; NbExp=6; IntAct=EBI-740850, EBI-3951744; Q9Z101:Pard6a (xeno); NbExp=6; IntAct=EBI-740850, EBI-81732; A2A5Z6:Smurf2 (xeno); NbExp=8; IntAct=EBI-740850, EBI-2348309; Q14134:TRIM29; NbExp=5; IntAct=EBI-740850, EBI-702370; P49910:ZNF165; NbExp=2; IntAct=EBI-740850, EBI-741694; Cell membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasm, cytosol (By similarity). Cytoplasmic vesicle (By similarity). Note=Localizes at the cell membrane upon interaction with frizzled family members and promotes their internalization. Localizes to cytoplasmic puncta (By similarity). The DIX domain mediates homooligomerization (By similarity). Phosphorylated by CSNK1D. Belongs to the DSH family. Contains 1 DEP domain. Contains 1 DIX domain. Contains 1 PDZ (DHR) domain. neural tube closure positive regulation of protein phosphorylation heart morphogenesis outflow tract morphogenesis frizzled binding protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane transcription from RNA polymerase II promoter multicellular organism development segment specification heart development membrane Wnt signaling pathway aggresome lateral plasma membrane nuclear body protein kinase binding protein domain specific binding convergent extension involved in neural plate elongation clathrin-coated vesicle protein binding, bridging cytoplasmic vesicle cellular protein localization segmentation hippo signaling intracellular signal transduction non-canonical Wnt signaling pathway identical protein binding positive regulation of JUN kinase activity positive regulation of GTPase activity protein self-association canonical Wnt signaling pathway involved in regulation of cell proliferation apical part of cell clathrin-coated endocytic vesicle positive regulation of transcription, DNA-templated Rac GTPase binding positive regulation of sequence-specific DNA binding transcription factor activity convergent extension involved in organogenesis canonical Wnt signaling pathway Wnt signaling pathway, planar cell polarity pathway membrane organization positive regulation of protein tyrosine kinase activity negative regulation of canonical Wnt signaling pathway cochlea morphogenesis planar cell polarity pathway involved in neural tube closure beta-catenin destruction complex disassembly  uc002gez.1 uc002gez.2 uc002gez.3 
ENST00000005374.10 GGCT ENST00000005374.10 Homo sapiens gamma-glutamylcyclotransferase (GGCT), transcript variant 3, mRNA. (from RefSeq NM_001199816) B2RDN0 C7orf24 CRF21 ENST00000005374.1 ENST00000005374.2 ENST00000005374.3 ENST00000005374.4 ENST00000005374.5 ENST00000005374.6 ENST00000005374.7 ENST00000005374.8 ENST00000005374.9 GGCT_HUMAN NM_001199816 O75223 Q9BS37 uc003tbb.1 uc003tbb.2 uc003tbb.3 uc003tbb.4 The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. Catalyzes the formation of 5-oxoproline from gamma- glutamyl dipeptides and may play a significant role in glutathione homeostasis. Induces release of cytochrome c from mitochondria with resultant induction of apoptosis. (Gamma-L-glutamyl)-L-amino acid = 5-oxoproline + L-amino acid. Kinetic parameters: KM=2.0 mM for gamma-glutamyl-L-alanine; Vmax=50.3 umol/min/mg enzyme; Homodimer (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75223-1; Sequence=Displayed; Name=2; IsoId=O75223-2; Sequence=VSP_035599, VSP_035600; Note=No experimental confirmation available; By geranylgeraniol. Belongs to the gamma-glutamylcyclotransferase family. release of cytochrome c from mitochondria gamma-glutamylcyclotransferase activity cytosol glutathione biosynthetic process lyase activity protein homodimerization activity extracellular exosome  uc003tbb.1 uc003tbb.2 uc003tbb.3 uc003tbb.4 
ENST00000005386.8 RPAP3 ENST00000005386.8 Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA. (from RefSeq NM_024604) ENST00000005386.1 ENST00000005386.2 ENST00000005386.3 ENST00000005386.4 ENST00000005386.5 ENST00000005386.6 ENST00000005386.7 NM_024604 Q6PHR5 Q9H6T3 RPAP3_HUMAN uc001rpr.1 uc001rpr.2 uc001rpr.3 uc001rpr.4 uc001rpr.5 This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Tightly associated with the RNA polymerase II complex. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6T3-1; Sequence=Displayed; Name=2; IsoId=Q9H6T3-2; Sequence=VSP_027957; Note=No experimental confirmation available; Belongs to the RPAP3 family. Contains 7 TPR repeats. protein binding cytosol R2TP complex  uc001rpr.1 uc001rpr.2 uc001rpr.3 uc001rpr.4 uc001rpr.5 
ENST00000005558.8 IFRD1 ENST00000005558.8 Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity). (from UniProt O00458) AK313211 B7Z5G1 ENST00000005558.1 ENST00000005558.2 ENST00000005558.3 ENST00000005558.4 ENST00000005558.5 ENST00000005558.6 ENST00000005558.7 IFRD1_HUMAN O00458 O75234 Q5U013 Q9BVE4 uc003vgh.1 uc003vgh.2 uc003vgh.3 uc003vgh.4 Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity). Interacts with PSIP1/LEDGF. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00458-1; Sequence=Displayed; Name=2; IsoId=O00458-2; Sequence=VSP_044304; Expressed in a variety of tissues. Belongs to the IFRD family. nucleus cytoplasm multicellular organism development myoblast fate determination striated muscle tissue development cell differentiation negative regulation of axon extension muscle cell differentiation skeletal muscle tissue regeneration negative regulation of collateral sprouting  uc003vgh.1 uc003vgh.2 uc003vgh.3 uc003vgh.4 
ENST00000005756.5 UPP2 ENST00000005756.5 Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 1, mRNA. (from RefSeq NM_173355) B3KV87 ENST00000005756.1 ENST00000005756.2 ENST00000005756.3 ENST00000005756.4 NM_173355 O95045 UPP2_HUMAN uc002tzp.1 uc002tzp.2 uc002tzp.3 uc002tzp.4 uc002tzp.5 Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1- phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(')-deoxyuridine as substrates. Uridine + phosphate = uracil + alpha-D-ribose 1-phosphate. A conditional disulfide bridge can form within the protein that dislocates a critical phosphate-coordinating arginine Arg-100 away from the active site, disabling the enzyme. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route): step 1/1. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95045-1; Sequence=Displayed; Name=2; IsoId=O95045-2; Sequence=VSP_043756; Note=No experimental confirmation available; Predominantly expressed in kidney. Belongs to the PNP/UDP phosphorylase family. Sequence=AAH33529.1; Type=Erroneous initiation; Note=Translation N-terminally extended; catalytic activity uridine phosphorylase activity protein binding cytoplasm cytosol nucleoside metabolic process nucleotide catabolic process transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring pentosyl groups identical protein binding pyrimidine nucleoside salvage UMP salvage type III intermediate filament uridine metabolic process pyrimidine nucleoside catabolic process  uc002tzp.1 uc002tzp.2 uc002tzp.3 uc002tzp.4 uc002tzp.5 
ENST00000005995.8 PRSS21 ENST00000005995.8 Homo sapiens serine protease 21 (PRSS21), transcript variant 5, non-coding RNA. (from RefSeq NR_073012) ENST00000005995.1 ENST00000005995.2 ENST00000005995.3 ENST00000005995.4 ENST00000005995.5 ENST00000005995.6 ENST00000005995.7 ESP1 NR_073012 Q9NS34 Q9P2V6 Q9Y6M0 TEST1 TEST_HUMAN UNQ266/PRO303 uc002crt.1 uc002crt.2 uc002crt.3 uc002crt.4 uc002crt.5 uc002crt.6 This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. Could regulate proteolytic events associated with testicular germ cell maturation. Cell membrane; Lipid-anchor, GPI-anchor (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=L; IsoId=Q9Y6M0-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=Q9Y6M0-2; Sequence=VSP_005389; Name=3; IsoId=Q9Y6M0-3; Sequence=VSP_005390; Expressed predominantly in premeiotic testicular germ cells, mostly late pachytene and diplotene spermatocytes. Belongs to the peptidase S1 family. Contains 1 peptidase S1 domain. serine-type endopeptidase activity protein binding extracellular region extracellular space cytoplasm plasma membrane proteolysis spermatogenesis peptidase activity serine-type peptidase activity membrane hydrolase activity anchored component of membrane  uc002crt.1 uc002crt.2 uc002crt.3 uc002crt.4 uc002crt.5 uc002crt.6 
ENST00000006015.4 HOXA11 ENST00000006015.4 Homo sapiens homeobox A11 (HOXA11), mRNA. (from RefSeq NM_005523) A4D190 ENST00000006015.1 ENST00000006015.2 ENST00000006015.3 HOX1I HXA11_HUMAN NM_005523 P31270 uc003syx.1 uc003syx.2 uc003syx.3 uc003syx.4 uc003syx.5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC040948.1, AK313921.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000006015.4/ ENSP00000006015.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Defects in HOXA11 are the cause of radioulnar synostosis with amegakaryocytic thrombocytopenia (RSAT) [MIM:605432]. The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HOXA11ID40847ch7p15.html"; RNA polymerase II transcription factor activity, sequence-specific DNA binding skeletal system development metanephros development branching involved in ureteric bud morphogenesis organ induction DNA binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development spermatogenesis single fertilization mesodermal cell fate specification male gonad development anatomical structure morphogenesis anterior/posterior pattern specification dorsal/ventral pattern formation proximal/distal pattern formation regulation of gene expression positive regulation of cell development embryonic limb morphogenesis regulation of chondrocyte differentiation positive regulation of chondrocyte differentiation macromolecular complex protein-DNA complex embryonic forelimb morphogenesis embryonic digit morphogenesis sequence-specific DNA binding positive regulation of transcription, DNA-templated developmental growth uterus development embryonic skeletal joint morphogenesis bone development cartilage development involved in endochondral bone morphogenesis  uc003syx.1 uc003syx.2 uc003syx.3 uc003syx.4 uc003syx.5 
ENST00000006053.7 CX3CL1 ENST00000006053.7 Homo sapiens C-X3-C motif chemokine ligand 1 (CX3CL1), transcript variant 1, mRNA. (from RefSeq NM_002996) A-152E5.2 ENST00000006053.1 ENST00000006053.2 ENST00000006053.3 ENST00000006053.4 ENST00000006053.5 ENST00000006053.6 FKN NM_002996 NTT O00672 P78423 SCYD1 X3CL1_HUMAN uc002eli.1 uc002eli.2 uc002eli.3 uc002eli.4 uc002eli.5 This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]. The soluble form is chemotactic for T-cells and monocytes, but not for neutrophils. The membrane-bound form promotes adhesion of those leukocytes to endothelial cells. May play a role in regulating leukocyte adhesion and migration processes at the endothelium. Binds to CX3CR1. Monomer. Cell membrane; Single-pass type I membrane protein. Processed fractalkine: Secreted. Small intestine, colon, testis, prostate, heart, brain, lung, skeletal muscle, kidney and pancreas. By TNF and IL1/interleukin-1 in pulmonary endothelial cells and umbilical vein endothelial cells. A soluble short 95 kDa form may be released by proteolytic cleavage from the long membrane-anchored form (By similarity). O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the intercrine delta family. Name=Wikipedia; Note=CX3CL1 entry; URL="http://en.wikipedia.org/wiki/CX3CL1"; microglial cell activation positive regulation of cell-matrix adhesion positive regulation of neuroblast proliferation leukocyte migration involved in inflammatory response monocyte chemotaxis response to ischemia receptor binding cytokine activity integrin binding protein binding extracellular region extracellular space plasma membrane chemotaxis defense response inflammatory response immune response cell adhesion G-protein coupled receptor signaling pathway cell-cell signaling aging chemokine activity positive regulation of cell proliferation cell surface negative regulation of cell-substrate adhesion positive regulation of neuron projection development membrane integral component of membrane neuron remodeling cytokine-mediated signaling pathway negative regulation of cell migration neutrophil chemotaxis leukocyte chemotaxis regulation of lipopolysaccharide-mediated signaling pathway CX3C chemokine receptor binding positive regulation of actin filament bundle assembly negative regulation of interleukin-1 alpha production negative regulation of interleukin-1 beta production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production positive regulation of transforming growth factor beta1 production integrin activation autocrine signaling chemoattractant activity wound healing cell projection neuron projection neuronal cell body negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAPK cascade positive regulation of GTPase activity cell body CXCR1 chemokine receptor binding positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter CCR chemokine receptor binding regulation of synaptic plasticity eosinophil chemotaxis macrophage chemotaxis lymphocyte chemotaxis perinuclear region of cytoplasm positive regulation of smooth muscle cell proliferation positive regulation of inflammatory response regulation of neurogenesis leukocyte adhesive activation positive chemotaxis positive regulation of calcium-independent cell-cell adhesion positive regulation of NF-kappaB transcription factor activity positive regulation of release of sequestered calcium ion into cytosol positive regulation of protein kinase B signaling angiogenesis involved in wound healing cell chemotaxis microglial cell proliferation neuron cellular homeostasis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor cell-cell adhesion synapse disassembly negative regulation of glutamate receptor signaling pathway positive regulation of I-kappaB phosphorylation negative regulation of microglial cell activation negative regulation of tumor necrosis factor secretion negative regulation of neuron migration negative regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  uc002eli.1 uc002eli.2 uc002eli.3 uc002eli.4 uc002eli.5 
ENST00000006251.11 PRR5 ENST00000006251.11 Homo sapiens proline rich 5 (PRR5), transcript variant 2, mRNA. (from RefSeq NM_015366) B1AHG5 ENST00000006251.1 ENST00000006251.10 ENST00000006251.2 ENST00000006251.3 ENST00000006251.4 ENST00000006251.5 ENST00000006251.6 ENST00000006251.7 ENST00000006251.8 ENST00000006251.9 NM_015366 O75983 O95695 P85299 PP610 PROTOR1 PRR5_HUMAN Q5BIW2 Q5EAJ8 Q5EAJ9 Q5XKJ6 Q96RW1 Q96RW2 Q9HA49 Q9HC46 Q9NSG0 Q9NVX8 Q9NXL1 Q9UH20 uc003bey.1 uc003bey.2 This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]. Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient- insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 'Ser-473' phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at 'Ser-422'. mTORC2 also modulates the phosphorylation of PRKCA on 'Ser-657'. PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling. May act as a tumor suppressor in breast cancer. Part of the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Contrary to mTORC1, mTORC2 does not bind to and is not sensitive to FKBP12-rapamycin. Binds directly to MTOR and RICTOR within the TORC2 complex. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=alpha; IsoId=P85299-1, Q9NSG0-5; Sequence=Displayed; Name=2; IsoId=P85299-2, Q9NSG0-8; Sequence=VSP_001646, VSP_001648; Name=3; Synonyms=beta; IsoId=P85299-3; Sequence=VSP_028885; Note=Derived from EST data. No experimental confirmation available; Name=4; Synonyms=gamma; IsoId=P85299-4; Sequence=VSP_028884; Note=Derived from EST data. No experimental confirmation available; Most abundant in kidney and liver. Also highly expressed in brain, spleen, testis and placenta. Overexpressed in several colorectal tumors. Belongs to the PROTOR family. positive regulation of protein phosphorylation protein binding cytosol cell cycle positive regulation of phosphatidylinositol 3-kinase signaling TORC2 complex activation of protein kinase B activity TORC2 signaling  uc003bey.1 uc003bey.2 
ENST00000006275.8 TRAPPC6A ENST00000006275.8 Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), transcript variant 1, mRNA. (from RefSeq NM_024108) ENST00000006275.1 ENST00000006275.2 ENST00000006275.3 ENST00000006275.4 ENST00000006275.5 ENST00000006275.6 ENST00000006275.7 HSPC289 NM_024108 O75865 Q9BQ45 Q9P092 TPC6A_HUMAN uc002pav.1 uc002pav.2 uc002pav.3 uc002pav.4 uc002pav.5 This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]. May play a role in vesicular transport during the biogenesis of melanosomes (By similarity). Part of the multisubunit TRAPP (transport protein particle) complex. Heterodimer with TRAPPC3. The heterodimer TRAPPC3-TRAPPC6A interacts with TRAPPC2L. Interacts with TRAPPC2L. Golgi apparatus, cis-Golgi network (By similarity). Endoplasmic reticulum (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75865-1; Sequence=Displayed; Name=2; IsoId=O75865-2; Sequence=VSP_019585; Belongs to the TRAPP small subunits family. BET3 subfamily. Sequence=AAC62259.1; Type=Erroneous initiation; Sequence=AAF28967.1; Type=Erroneous initiation; Golgi membrane protein binding endoplasmic reticulum Golgi apparatus cis-Golgi network trans-Golgi network cytosol ER to Golgi vesicle-mediated transport vesicle-mediated transport regulation of GTPase activity pigmentation Golgi vesicle transport COPII vesicle coating melanosome assembly  uc002pav.1 uc002pav.2 uc002pav.3 uc002pav.4 uc002pav.5 
ENST00000006658.11 SPATA20 ENST00000006658.11 Homo sapiens spermatogenesis associated 20 (SPATA20), transcript variant 1, mRNA. (from RefSeq NM_022827) ENST00000006658.1 ENST00000006658.10 ENST00000006658.2 ENST00000006658.3 ENST00000006658.4 ENST00000006658.5 ENST00000006658.6 ENST00000006658.7 ENST00000006658.8 ENST00000006658.9 NM_022827 Q2TA99 Q2XUZ6 Q6P0P1 Q8TB22 Q8WVW3 Q9H747 SPT20_HUMAN uc002ird.1 uc002ird.2 uc002ird.3 uc002ird.4 uc002ird.5 May play a role in fertility regulation (By similarity). Secreted (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8TB22-1; Sequence=Displayed; Name=2; IsoId=Q8TB22-2; Sequence=VSP_023290; Note=No experimental confirmation available; Name=3; IsoId=Q8TB22-3; Sequence=VSP_023288; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=4; IsoId=Q8TB22-4; Sequence=VSP_023289, VSP_023291, VSP_023292; Note=No experimental confirmation available; catalytic activity extracellular region multicellular organism development spermatogenesis cell differentiation  uc002ird.1 uc002ird.2 uc002ird.3 uc002ird.4 uc002ird.5 
ENST00000006724.7 CEACAM7 ENST00000006724.7 Cell membrane; Lipid-anchor, GPI-anchor (Potential). (from UniProt Q14002) A8K848 CEAM7_HUMAN CGM2 ENST00000006724.1 ENST00000006724.2 ENST00000006724.3 ENST00000006724.4 ENST00000006724.5 ENST00000006724.6 O15148 O15149 Q0VAC1 Q13983 Q14002 Q9UPJ2 X98311 uc002ori.1 uc002ori.2 Cell membrane; Lipid-anchor, GPI-anchor (Potential). Event=Alternative splicing; Named isoforms=2; Name=2a; IsoId=Q14002-1; Sequence=Displayed; Name=2b; IsoId=Q14002-2; Sequence=VSP_002488; Strongly down-regulated in colonic adenocarcinomas. Belongs to the immunoglobulin superfamily. CEA family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. extracellular region plasma membrane membrane apical plasma membrane anchored component of membrane  uc002ori.1 uc002ori.2 
ENST00000006750.8 CD79B ENST00000006750.8 Homo sapiens CD79b molecule (CD79B), transcript variant 1, mRNA. (from RefSeq NM_000626) B29 CD79B_HUMAN ENST00000006750.1 ENST00000006750.2 ENST00000006750.3 ENST00000006750.4 ENST00000006750.5 ENST00000006750.6 ENST00000006750.7 IGB NM_000626 P40259 Q53FS2 Q9BU06 uc002jdq.1 uc002jdq.2 uc002jdq.3 The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation. Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the alpha/beta chain heterodimer is non-covalently associated with an antigen- specific membrane-bound surface immunoglobulin of two heavy chains and two light chains. Interacts with LYN (By similarity). Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts (By similarity). Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P40259-1; Sequence=Displayed; Name=Short; IsoId=P40259-2; Sequence=VSP_002477; B-cells. Phosphorylated on tyrosine upon B-cell activation by SRC-type Tyr-kinases such as BLK, LYN and SYK. Defects in CD79B are the cause of agammaglobulinemia type 6 (AGM6) [MIM:612692]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Contains 1 ITAM domain. Name=CD79Bbase; Note=CD79B mutation db; URL="http://bioinf.uta.fi/CD79Bbase/"; adaptive immune response immune system process transmembrane signaling receptor activity protein binding nucleoplasm Golgi apparatus cytosol plasma membrane integral component of plasma membrane immune response signal transduction cell surface receptor signaling pathway response to bacterium external side of plasma membrane membrane integral component of membrane B cell receptor complex B cell differentiation identical protein binding protein homodimerization activity B cell receptor signaling pathway protein homooligomerization extracellular exosome  uc002jdq.1 uc002jdq.2 uc002jdq.3 
ENST00000006777.11 RHBDD2 ENST00000006777.11 Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 6, mRNA. (from RefSeq NM_001346189) ENST00000006777.1 ENST00000006777.10 ENST00000006777.2 ENST00000006777.3 ENST00000006777.4 ENST00000006777.5 ENST00000006777.6 ENST00000006777.7 ENST00000006777.8 ENST00000006777.9 NM_001346189 Q6NTF9 Q7L534 Q9H5W6 Q9UDT2 RHBD2_HUMAN RHBDL7 uc003udw.1 uc003udw.2 uc003udw.3 The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]. Membrane; Multi-pass membrane protein (Potential). Belongs to the peptidase S54 family. Although strongly related to the peptidase S54 family, it lacks the conserved active sites, suggesting that it has no peptidase activity. Sequence=BAB15503.1; Type=Erroneous initiation; Golgi membrane Hrd1p ubiquitin ligase ERAD-L complex serine-type endopeptidase activity nucleus nucleoplasm Golgi apparatus membrane integral component of membrane integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response perinuclear region of cytoplasm misfolded protein binding ubiquitin-specific protease binding  uc003udw.1 uc003udw.2 uc003udw.3 
ENST00000007264.7 RPUSD1 ENST00000007264.7 Homo sapiens RNA pseudouridine synthase domain containing 1 (RPUSD1), transcript variant 1, mRNA. (from RefSeq NM_058192) C16orf40 D3DU66 ENST00000007264.1 ENST00000007264.2 ENST00000007264.3 ENST00000007264.4 ENST00000007264.5 ENST00000007264.6 NM_058192 Q9UJJ7 RLUCL RUSD1_HUMAN uc002ckb.1 uc002ckb.2 uc002ckb.3 uc002ckb.4 Belongs to the pseudouridine synthase RluA family. enzyme-directed rRNA pseudouridine synthesis pseudouridine synthesis molecular_function RNA binding cellular_component biological_process RNA modification pseudouridine synthase activity  uc002ckb.1 uc002ckb.2 uc002ckb.3 uc002ckb.4 
ENST00000007390.3 TSR3 ENST00000007390.3 Homo sapiens TSR3 ribosome maturation factor (TSR3), mRNA. (from RefSeq NM_001001410) C16orf42 ENST00000007390.1 ENST00000007390.2 NM_001001410 Q6PJT8 Q9UJK0 TSR3_HUMAN UND313L uc002cll.1 uc002cll.2 uc002cll.3 uc002cll.4 uc002cll.5 Probable pre-rRNA processing protein involved in ribosome biogenesis (By similarity). Belongs to the TSR3 family. rRNA modification cytosol rRNA processing transferase activity maturation of SSU-rRNA ribosome biogenesis  uc002cll.1 uc002cll.2 uc002cll.3 uc002cll.4 uc002cll.5 
ENST00000007414.8 OSBPL7 ENST00000007414.8 Homo sapiens oxysterol binding protein like 7 (OSBPL7), mRNA. (from RefSeq NM_145798) D3DTT6 ENST00000007414.1 ENST00000007414.2 ENST00000007414.3 ENST00000007414.4 ENST00000007414.5 ENST00000007414.6 ENST00000007414.7 NM_145798 ORP7 OSBL7_HUMAN Q9BZF2 uc002ilx.1 uc002ilx.2 uc002ilx.3 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC065482.1, SRR1803617.33078.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007414.8/ ENSP00000007414.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Belongs to the OSBP family. Contains 1 PH domain. protein binding cytoplasm autophagosome endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane bile acid biosynthetic process lipid transport lipid binding regulation of autophagy cholesterol binding membrane sterol binding intracellular membrane-bounded organelle cellular response to cholesterol perinuclear endoplasmic reticulum positive regulation of proteasomal protein catabolic process  uc002ilx.1 uc002ilx.2 uc002ilx.3 
ENST00000007510.9 ARHGAP33 ENST00000007510.9 Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 3, mRNA. (from RefSeq NM_001366178) ENST00000007510.1 ENST00000007510.2 ENST00000007510.3 ENST00000007510.4 ENST00000007510.5 ENST00000007510.6 ENST00000007510.7 ENST00000007510.8 NM_001366178 O14552 O14559 O14560 Q6ZSP6 Q96CP3 Q9NT23 RHG33_HUMAN SNX26 TCGAP uc060xjg.1 uc060xjg.2 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity). Specifically interacts with CDC42 and RHOQ/TC10 through its Rho-GAP domain (By similarity). Interacts with NEK6. P06241:FYN; NbExp=2; IntAct=EBI-1210010, EBI-515315; Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O14559-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=O14559-10; Sequence=VSP_014287, VSP_014292; Note=Ref.2 (BAC86902) sequence differs from that shown due to several frameshifts; Name=3; IsoId=O14559-11; Sequence=VSP_014291; Name=4; IsoId=O14559-12; Sequence=VSP_014288, VSP_014289, VSP_014290; Belongs to the PX domain-containing GAP family. Contains 1 PX (phox homology) domain. Contains 1 Rho-GAP domain. Contains 1 SH3 domain. Sequence=AAB81198.1; Type=Erroneous gene model prediction; GTPase activator activity protein binding cytoplasm cytosol plasma membrane signal transduction small GTPase mediated signal transduction response to toxic substance protein transport protein kinase binding macromolecular complex phosphatidylinositol binding dendritic spine positive regulation of GTPase activity regulation of small GTPase mediated signal transduction regulation of dendritic spine morphogenesis  uc060xjg.1 uc060xjg.2 
ENST00000007516.8 NDUFAB1 ENST00000007516.8 Homo sapiens NADH:ubiquinone oxidoreductase subunit AB1 (NDUFAB1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005003) ACPM_HUMAN B2R4M1 ENST00000007516.1 ENST00000007516.2 ENST00000007516.3 ENST00000007516.4 ENST00000007516.5 ENST00000007516.6 ENST00000007516.7 NM_005003 O14561 Q9UNV1 uc002dlw.1 uc002dlw.2 uc002dlw.3 uc002dlw.4 uc002dlw.5 Carrier of the growing fatty acid chain in fatty acid biosynthesis in mitochondria. Accessory and non-catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (By similarity). Mammalian complex I is composed of 45 different subunits. Mitochondrion. Contains 1 acyl carrier domain. Sequence=AAC05814.1; Type=Erroneous initiation; acyl binding ACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process fatty acid binding calcium ion binding protein binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial matrix mitochondrial electron transport, NADH to ubiquinone lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process NADH dehydrogenase (ubiquinone) activity protein lipoylation mitochondrial membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain mitochondrial large ribosomal subunit  uc002dlw.1 uc002dlw.2 uc002dlw.3 uc002dlw.4 uc002dlw.5 
ENST00000007699.10 YBX2 ENST00000007699.10 Homo sapiens Y-box binding protein 2 (YBX2), mRNA. (from RefSeq NM_015982) CSDA3 D3DTP1 ENST00000007699.1 ENST00000007699.2 ENST00000007699.3 ENST00000007699.4 ENST00000007699.5 ENST00000007699.6 ENST00000007699.7 ENST00000007699.8 ENST00000007699.9 MSY2 NM_015982 Q8N4P0 Q9Y2T7 YBOX2_HUMAN uc002gfq.1 uc002gfq.2 uc002gfq.3 uc002gfq.4 This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF096834.1, BC033800.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007699.10/ ENSP00000007699.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5'-UCCAUCA-3' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasmic storage, thereby linking transcription and mRNA storage/translational delay (By similarity). Found in a mRNP complex with PABPC1 and CSDA (By similarity). Cytoplasm. Nucleus. Expressed in oocytes and testicular germ cells in the stage of spermatogonia to spermatocyte. Also observed placental trophoblasts, as well as in vascular smooth muscle cells in the pulmonary artery, myocardium, and skeletal muscle. Undetectable in epithelial cells in respiratory, gastrointestinal, and urogenital tracts. Up-regulated in various carcinomas and germ cell tumors (at protein level). Phosphorylated during oocyte maturation and dephosphorylated following egg activation. Phosphorylated in vitro by a kinase activity associated with testicular mRNPs. Dephosphorylation leads to a decrease in its affinity to bind RNA in vitro (By similarity). Contains 1 CSD (cold-shock) domain. fibrillar center nucleic acid binding DNA binding RNA binding nucleus cytoplasm transcription from RNA polymerase II promoter spermatogenesis translational attenuation oocyte development  uc002gfq.1 uc002gfq.2 uc002gfq.3 uc002gfq.4 
ENST00000007708.7 PDK2 ENST00000007708.7 Homo sapiens pyruvate dehydrogenase kinase 2 (PDK2), transcript variant 2, mRNA. (from RefSeq NM_001199898) A8K3A7 B3KNW0 ENST00000007708.1 ENST00000007708.2 ENST00000007708.3 ENST00000007708.4 ENST00000007708.5 ENST00000007708.6 NM_001199898 PDHK2 PDK2_HUMAN Q15119 Q6P515 Q9BS05 uc002iqb.1 uc002iqb.2 uc002iqb.3 uc002iqb.4 This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]. Inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism. ATP + [pyruvate dehydrogenase (acetyl- transferring)] = ADP + [pyruvate dehydrogenase (acetyl- transferring)] phosphate. Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15119-1; Sequence=Displayed; Name=2; IsoId=Q15119-2; Sequence=VSP_042549; Note=No experimental confirmation available; Expressed in many tissues, with the highest level in heart and skeletal muscle, intermediate levels in brain, kidney, pancreas and liver, and low levels in placenta and lung. Belongs to the PDK/BCKDK protein kinase family. Contains 1 histidine kinase domain. nucleotide binding protein kinase activity pyruvate dehydrogenase (acetyl-transferring) kinase activity ATP binding nucleoplasm mitochondrion mitochondrial matrix cytosol mitochondrial pyruvate dehydrogenase complex carbohydrate metabolic process glucose metabolic process regulation of gluconeogenesis protein phosphorylation regulation of pH insulin receptor signaling pathway regulation of acetyl-CoA biosynthetic process from pyruvate regulation of cellular ketone metabolic process regulation of glucose metabolic process kinase activity phosphorylation transferase activity cellular response to nutrient cellular response to reactive oxygen species glucose homeostasis protein homodimerization activity regulation of calcium-mediated signaling intrinsic apoptotic signaling pathway by p53 class mediator  uc002iqb.1 uc002iqb.2 uc002iqb.3 uc002iqb.4 
ENST00000007722.11 ITGA3 ENST00000007722.11 Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Alpha- 3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. (from UniProt P26006) A7E246 B7ZM80 B9EGQ1 BC136636 D3DTX4 D3DTX5 ENST00000007722.1 ENST00000007722.10 ENST00000007722.2 ENST00000007722.3 ENST00000007722.4 ENST00000007722.5 ENST00000007722.6 ENST00000007722.7 ENST00000007722.8 ENST00000007722.9 ITA3_HUMAN MSK18 P26006 uc010dbm.1 uc010dbm.2 uc010dbm.3 uc010dbm.4 Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Alpha- 3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of an heavy and a light chain linked by a disulfide bond. Alpha-3 associates with beta-1. Interacts with HPS5. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha-3A; IsoId=P26006-2; Sequence=Displayed; Name=2; Synonyms=Alpha-3B; IsoId=P26006-1; Sequence=VSP_002721; Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cells, isoform 2 is detected only on endothelial vein cells. Isoform 1, but not isoform 2, is phosphorylated on serine residues. Phosphorylation increases after phorbol 12-myristate 13- acetate stimulation. Defects in ITGA3 are the cause of interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748]. A multiorgan disorder characterized by congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease. Belongs to the integrin alpha chain family. Contains 7 FG-GAP repeats. neuron migration fibronectin binding protease binding integrin binding protein binding collagen binding plasma membrane focal adhesion cell adhesion cell-matrix adhesion integrin-mediated signaling pathway heart development memory integrin complex external side of plasma membrane cell surface positive regulation of gene expression positive regulation of epithelial cell migration positive regulation of cell-substrate adhesion positive regulation of neuron projection development membrane integral component of membrane basolateral plasma membrane regulation of transforming growth factor beta receptor signaling pathway protein domain specific binding cell junction regulation of Wnt signaling pathway extracellular matrix organization lung development growth cone regulation of BMP signaling pathway negative regulation of cell projection organization filopodium membrane integrin alpha3-beta1 complex response to gonadotropin negative regulation of Rho protein signal transduction exploration behavior response to drug cell projection receptor complex laminin binding skin development synapse metal ion binding protein heterodimerization activity mesodermal cell differentiation perinuclear region of cytoplasm leukocyte migration excitatory synapse maternal process involved in female pregnancy extracellular exosome invadopodium membrane cell periphery nephron development synaptic membrane dendritic spine maintenance renal filtration positive regulation of protein localization to plasma membrane growth cone filopodium  uc010dbm.1 uc010dbm.2 uc010dbm.3 uc010dbm.4 
ENST00000007735.4 KRT33A ENST00000007735.4 Homo sapiens keratin 33A (KRT33A), mRNA. (from RefSeq NM_004138) B2RA87 ENST00000007735.1 ENST00000007735.2 ENST00000007735.3 HHA3-I HKA3A KRTHA3A KT33A_HUMAN NM_004138 O76009 Q6NTB9 Q6ZZB9 uc002hwk.1 uc002hwk.2 uc002hwk.3 uc002hwk.4 This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]. ##Evidence-Data-START## Transcript exon combination :: AJ633621.2, BC069135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007735.4/ ENSP00000007735.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Expressed in the hair follicles. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity extracellular space cytosol intermediate filament keratinization cornification  uc002hwk.1 uc002hwk.2 uc002hwk.3 uc002hwk.4 
ENST00000007969.12 LRRC23 ENST00000007969.12 Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 1, mRNA. (from RefSeq NM_201650) A8K8C6 D3DUT1 ENST00000007969.1 ENST00000007969.10 ENST00000007969.11 ENST00000007969.2 ENST00000007969.3 ENST00000007969.4 ENST00000007969.5 ENST00000007969.6 ENST00000007969.7 ENST00000007969.8 ENST00000007969.9 LRC23_HUMAN LRPB7 NM_201650 Q53EV4 Q8N6K6 Q92977 Q99620 uc001qrp.1 uc001qrp.2 uc001qrp.3 uc001qrp.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53EV4-1; Sequence=Displayed; Name=2; IsoId=Q53EV4-2; Sequence=VSP_021889; Note=Ref.1 (AAC51638) sequence is in conflict in position: 276:E->G; Contains 8 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. molecular_function cellular_component cytoplasm cytosol biological_process  uc001qrp.1 uc001qrp.2 uc001qrp.3 uc001qrp.4 
ENST00000008180.13 IL32 ENST00000008180.13 Homo sapiens interleukin 32 (IL32), transcript variant 5, mRNA. (from RefSeq NM_001012634) A8MPX0 B4DJM1 D3DUB0 D3DUB2 ENST00000008180.1 ENST00000008180.10 ENST00000008180.11 ENST00000008180.12 ENST00000008180.2 ENST00000008180.3 ENST00000008180.4 ENST00000008180.5 ENST00000008180.6 ENST00000008180.7 ENST00000008180.8 ENST00000008180.9 IL32_HUMAN NK4 NM_001012634 P24001 Q5VFH7 Q5VFH8 Q8WV38 Q96GK9 TAIF uc002ctr.1 uc002ctr.2 uc002ctr.3 uc002ctr.4 This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF- alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK. Secreted. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Gamma; IsoId=P24001-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=P24001-2; Sequence=VSP_022006; Name=3; Synonyms=Delta; IsoId=P24001-3; Sequence=VSP_022005, VSP_022006; Name=4; Synonyms=Alpha; IsoId=P24001-4; Sequence=VSP_022006, VSP_022007; Name=5; IsoId=P24001-5; Sequence=VSP_022006, VSP_043318; Note=No experimental confirmation available; Selectively expressed in lymphocytes. Expression is more prominent in immune cells than in non-immune cells. Expression increased after activation of T-cells by mitogens or activation of NK cells by IL2/interleukin-2. cytokine activity protein binding extracellular region extracellular space cytosol defense response immune response cell adhesion membrane cytokine-mediated signaling pathway  uc002ctr.1 uc002ctr.2 uc002ctr.3 uc002ctr.4 
ENST00000008391.4 TFAP2D ENST00000008391.4 Homo sapiens transcription factor AP-2 delta (TFAP2D), mRNA. (from RefSeq NM_172238) AP2D_HUMAN ENST00000008391.1 ENST00000008391.2 ENST00000008391.3 NM_172238 Q7Z6R9 Q8IWX0 TFAP2BL1 uc003paf.1 uc003paf.2 uc003paf.3 uc003paf.4 uc003paf.5 Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity). Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity). Nucleus (Probable). Highly expressed in brain, placenta, skeletal muscle, thymus, small intestine, and prostate, and expressed at lower levels in leukocyte, spleen, testis, ovary and colon. Barely detectable in heart, kidney, liver, lung or pancreas. Belongs to the AP-2 family. Name=Wikipedia; Note=Activatin protein 2 entry; URL="http://en.wikipedia.org/wiki/Activating_protein_2"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter negative regulation of neuron apoptotic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter inferior colliculus development  uc003paf.1 uc003paf.2 uc003paf.3 uc003paf.4 uc003paf.5 
ENST00000008440.9 SPRTN ENST00000008440.9 Homo sapiens SprT-like N-terminal domain (SPRTN), transcript variant 3, mRNA. (from RefSeq NM_001261462) B5MEF7 C1orf124 ENST00000008440.1 ENST00000008440.2 ENST00000008440.3 ENST00000008440.4 ENST00000008440.5 ENST00000008440.6 ENST00000008440.7 ENST00000008440.8 NM_001261462 Q5TE78 Q6UWW6 Q96BC5 Q9H040 SPRTN_HUMAN UNQ1880/PRO4323 uc001hut.1 uc001hut.2 uc001hut.3 uc001hut.4 uc001hut.5 The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]. Regulator of UV-induced DNA damage response: acts as a 'reader' of ubiquitinated PCNA that enhances RAD18-mediated PCNA ubiquitination and translesion DNA synthesis. Recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA. Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis. Also required for localization of DNA polymerase eta (POLH) to sites of UV damage. Interacts with PCNA (when ubiquitinated). Interacts with RAD18. Nucleus. Note=Localizes to sites of UV damage via the PIP-box. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H040-1; Sequence=Displayed; Name=2; IsoId=Q9H040-2; Sequence=VSP_029891, VSP_029892; Note=No experimental confirmation available; The PIP-box mediates the interaction with PCNA, while the UBZ-type zinc finger mediates binding to 'Lys-48'- and 'Lys-63'- linked polyubiquitin (PubMed:22681887). Belongs to the Spartan family. Contains 1 SprT-like domain. Contains 1 UBZ-type zinc finger. DNA binding protein binding nucleus nucleoplasm chromosome DNA repair cellular response to DNA damage stimulus response to UV nuclear speck translesion synthesis positive regulation of protein ubiquitination ubiquitin binding metal ion binding K63-linked polyubiquitin binding error-free translesion synthesis  uc001hut.1 uc001hut.2 uc001hut.3 uc001hut.4 uc001hut.5 
ENST00000008527.10 CRY1 ENST00000008527.10 Homo sapiens cryptochrome circadian regulator 1 (CRY1), mRNA. (from RefSeq NM_004075) CRY1_HUMAN ENST00000008527.1 ENST00000008527.2 ENST00000008527.3 ENST00000008527.4 ENST00000008527.5 ENST00000008527.6 ENST00000008527.7 ENST00000008527.8 ENST00000008527.9 NM_004075 PHLL1 Q16526 uc001tmi.1 uc001tmi.2 uc001tmi.3 uc001tmi.4 uc001tmi.5 uc001tmi.6 This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D83702.1, SRR3476690.36215.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000008527.10/ ENSP00000008527.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Blue light-dependent regulator of the circadian feedback loop. Inhibits CLOCK|NPAS2-ARNTL E box-mediated transcription. Acts, in conjunction with CRY2, in maintaining period length and circadian rhythmicity. Has no photolyase activity. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. May inhibit CLOCK|NPAS2-ARNTL transcriptional activity through stabilizing the unphosphorylated form of ARNTL (By similarity). Binds 1 FAD per subunit. Binds 1 5,10-methenyltetrahydrofolate non-covalently per subunit. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, ARNTL or ARNTL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts directly with TIMELESS and the PER proteins. Interacts directly with PER1 and PER2 C-terminal domains. Interaction with PER2 inhibits its ubiquitination and vice versa. Binds MAPK. Interacts with FBXL21 (By similarity). Interacts with FBXL3. Cytoplasm. Nucleus. Note=Translocated to the nucleus through interaction with other Clock proteins such as PER2 or ARNTL (By similarity). Expression is regulated by light and circadian rhythms. Peak expression in the suprachiasma nucleus (SCN) and eye at the day/night transition (CT12). Levels decrease with ARNTL-CLOCK inhibition as part of the autoregulatory feedback loop. Phosphorylation on Ser-247 by MAPK is important for the inhibition of CLOCK-ARNTL-mediated transcriptional activity. Phosphorylation by CSNK1E requires interaction with PER1 or PER2. Phosphorylation at Ser-71 and Ser-280 by AMPK destabilizes it (By similarity). Ubiquitinated by the SCF(FBXL3) and SCF(FBXL21) complex leading to degradation. Belongs to the DNA photolyase class-1 family. Contains 1 photolyase/cryptochrome alpha/beta domain. Name=Wikipedia; Note=Cryptochrome entry; URL="http://en.wikipedia.org/wiki/Cryptochrome"; negative regulation of transcription from RNA polymerase II promoter nucleotide binding DNA binding double-stranded DNA binding protein binding nucleus cytoplasm mitochondrion gluconeogenesis DNA damage induced protein phosphorylation circadian rhythm transcription factor binding response to light stimulus blue light signaling pathway photoreceptor activity blue light photoreceptor activity response to activity protein-chromophore linkage kinase binding protein kinase binding phosphatase binding lipid storage negative regulation of protein ubiquitination positive regulation of protein ubiquitination response to insulin circadian regulation of gene expression response to glucagon nuclear hormone receptor binding glucose homeostasis regulation of circadian rhythm negative regulation of circadian rhythm histone deacetylase binding entrainment of circadian clock by photoperiod negative regulation of gluconeogenesis negative regulation of G-protein coupled receptor protein signaling pathway negative regulation of transcription, DNA-templated rhythmic process response to stimulus E-box binding regulation of DNA damage checkpoint negative regulation of glucocorticoid receptor signaling pathway negative regulation of glucocorticoid secretion deoxyribodipyrimidine photo-lyase activity DNA (6-4) photolyase activity  uc001tmi.1 uc001tmi.2 uc001tmi.3 uc001tmi.4 uc001tmi.5 uc001tmi.6 
ENST00000008876.7 MAPK8IP2 ENST00000008876.7 mitogen-activated protein kinase 8 interacting protein 2 (from HGNC MAPK8IP2) BC047527 ENST00000008876.1 ENST00000008876.2 ENST00000008876.3 ENST00000008876.4 ENST00000008876.5 ENST00000008876.6 uc032qrx.1 uc032qrx.2  uc032qrx.1 uc032qrx.2 
ENST00000008938.5 PGLYRP1 ENST00000008938.5 Homo sapiens peptidoglycan recognition protein 1 (PGLYRP1), mRNA. (from RefSeq NM_005091) ENST00000008938.1 ENST00000008938.2 ENST00000008938.3 ENST00000008938.4 NM_005091 O75594 PGLYRP PGRP PGRP1_HUMAN Q4VB36 SBBI68 TNFSF3L UNQ639/PRO1269 uc002pdx.1 uc002pdx.2 uc002pdx.3 uc002pdx.4 uc002pdx.5 Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Binds also to Gram- negative bacteria, and has bacteriostatic activity towards Gram- negative bacteria. Plays a role in innate immunity. Homodimer; disulfide-linked. Secreted. Cytoplasmic granule (By similarity). Highly expressed in bone marrow. Weak expression found in kidney, liver, small intestine, spleen, thymus, peripheral leukocyte, lung, fetal spleen and neutrophils. N-glycosylated. N-glycosylation is required for bactericidal activity. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. pattern recognition receptor signaling pathway immune system process extracellular region extracellular space zinc ion binding N-acetylmuramoyl-L-alanine amidase activity peptidoglycan catabolic process response to bacterium peptidoglycan receptor activity detection of bacterium antimicrobial humoral response killing of cells of other organism negative regulation of interferon-gamma production negative regulation of natural killer cell differentiation involved in immune response specific granule lumen defense response to bacterium peptidoglycan binding neutrophil degranulation growth of symbiont in host innate immune response negative regulation of inflammatory response defense response to Gram-positive bacterium positive regulation of cytolysis in other organism extracellular exosome phagocytic vesicle lumen tertiary granule lumen  uc002pdx.1 uc002pdx.2 uc002pdx.3 uc002pdx.4 uc002pdx.5 
ENST00000009041.12 STARD3NL ENST00000009041.12 Homo sapiens STARD3 N-terminal like (STARD3NL), transcript variant 1, mRNA. (from RefSeq NM_032016) ENST00000009041.1 ENST00000009041.10 ENST00000009041.11 ENST00000009041.2 ENST00000009041.3 ENST00000009041.4 ENST00000009041.5 ENST00000009041.6 ENST00000009041.7 ENST00000009041.8 ENST00000009041.9 MENTHO MENTO_HUMAN NM_032016 O95772 UNQ855/PRO1864 uc003tfr.1 uc003tfr.2 uc003tfr.3 uc003tfr.4 uc003tfr.5 This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.259540.1, SRR1803613.194392.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Can form homodimers. Interacts with STARD3. Late endosome membrane; Multi-pass membrane protein. Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=O95772-1; Sequence=Displayed; Name=2; IsoId=O95772-2; Sequence=VSP_018819; Contains 1 MENTAL domain. protein binding lysosomal membrane endosome cytosol C21-steroid hormone biosynthetic process cholesterol binding membrane integral component of membrane late endosome membrane protein homodimerization activity intracellular membrane-bounded organelle organelle membrane contact site vesicle tethering to endoplasmic reticulum endoplasmic reticulum membrane  uc003tfr.1 uc003tfr.2 uc003tfr.3 uc003tfr.4 uc003tfr.5 
ENST00000009105.5 CAMK1G ENST00000009105.5 Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity). (from UniProt Q96NX5) AK095713 ENST00000009105.1 ENST00000009105.2 ENST00000009105.3 ENST00000009105.4 KCC1G_HUMAN Q86UH5 Q96NX5 Q9Y3J7 VWS1 uc001hhe.1 uc001hhe.2 uc001hhe.3 uc001hhe.4 Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1 (By similarity). ATP + a protein = ADP + a phosphoprotein. Activated by Ca(2+)/calmodulin. Binding of calmodulin is thought to result in a conformational change and leads to activation through phosphorylation by CAMKK1 (By similarity). Cytoplasm (By similarity). Golgi apparatus membrane; Peripheral membrane protein (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96NX5-1; Sequence=Displayed; Name=2; IsoId=Q96NX5-2; Sequence=VSP_012138; Mainly expressed in brain with small amounts in skeletal muscles, kidney, spleen and liver. Strongly expressed in forebrain neocortex, striatum and limbic system. The autoinhibitory domain overlaps with the calmodulin binding region and interacts in the inactive folded state with the catalytic domain as a pseudosubstrate (By similarity). May be prenylated on Cys-473 (By similarity). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. Contains 1 protein kinase domain. Sequence=CAB41259.1; Type=Erroneous initiation; Golgi membrane nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity calmodulin-dependent protein kinase activity calmodulin binding ATP binding cytoplasm Golgi apparatus plasma membrane calcium- and calmodulin-dependent protein kinase complex protein phosphorylation metabolic process endomembrane system membrane kinase activity phosphorylation transferase activity neuron projection  uc001hhe.1 uc001hhe.2 uc001hhe.3 uc001hhe.4 
ENST00000009180.10 CD9 ENST00000009180.10 Homo sapiens CD9 molecule (CD9), transcript variant 1, mRNA. (from RefSeq NM_001769) CD9_HUMAN D3DUQ9 ENST00000009180.1 ENST00000009180.2 ENST00000009180.3 ENST00000009180.4 ENST00000009180.5 ENST00000009180.6 ENST00000009180.7 ENST00000009180.8 ENST00000009180.9 GIG2 MIC3 NM_001769 P21926 Q5J7W6 Q96ES4 TSPAN29 uc285jyt.1 uc285jyt.2 This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]. Involved in platelet activation and aggregation. Regulates paranodal junction formation. Involved in cell adhesion, cell motility and tumor metastasis. Required for sperm-egg fusion. Forms both disulfide-linked homodimers and higher homooligomers as well as heterooligomers with other members of the tetraspanin family. Associates with CR2/CD21 and with PTGFRN/CD9P1. Interacts directly with IGSF8. Membrane; Multi-pass membrane protein. Expressed by a variety of hematopoietic and epithelial cells. Protein exists in three forms with molecular masses between 22 and 27 kDa, and is known to carry covalently linked fatty acids. Belongs to the tetraspanin (TM4SF) family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cd9/"; platelet degranulation integrin binding protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane focal adhesion cell adhesion single fertilization fusion of sperm to egg plasma membrane brain development negative regulation of cell proliferation response to water deprivation external side of plasma membrane cell surface oligodendrocyte development myoblast fusion involved in skeletal muscle regeneration membrane integral component of membrane apical plasma membrane platelet activation endocytic vesicle membrane clathrin-coated endocytic vesicle membrane paranodal junction assembly platelet alpha granule membrane receptor internalization macromolecular complex sperm-egg recognition negative regulation of cellular component movement extracellular exosome cellular response to low-density lipoprotein particle stimulus negative regulation of platelet aggregation extracellular vesicle regulation of macrophage migration  uc285jyt.1 uc285jyt.2 
ENST00000009530.13 CD74 ENST00000009530.13 Homo sapiens CD74 molecule (CD74), transcript variant 1, mRNA. (from RefSeq NM_001025159) A8K7R1 B4DNE8 D3DQG3 D3DQG4 DHLAG ENST00000009530.1 ENST00000009530.10 ENST00000009530.11 ENST00000009530.12 ENST00000009530.2 ENST00000009530.3 ENST00000009530.4 ENST00000009530.5 ENST00000009530.6 ENST00000009530.7 ENST00000009530.8 ENST00000009530.9 HG2A_HUMAN NM_001025159 P04233 Q14597 Q29832 Q5U0J8 Q8SNA0 Q8WLP6 uc003lsc.1 uc003lsc.2 uc003lsc.3 uc003lsc.4 uc003lsc.5 uc003lsc.6 The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF. Homotrimer. In the endoplasmic reticulum (ER) it forms an heterononameric MHC II-Ii complex: 3 MHC class II molecules (heterodimers of an alpha and a beta subunit) bind to the CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system, the CD74 component undergoes sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide) attached to the MHC class II molecule (alpha-beta-CLIP complex). This processed complex interacts with HLA_DM and HLA_DO heterodimers in order to release CLIP and facilitate the binding of antigenic peptides to the MHC class II molecules. Cell membrane; Single-pass type II membrane protein (Potential). Endoplasmic reticulum membrane. Golgi apparatus, trans-Golgi network. Endosome. Lysosome. Note=Transits through a number of intracellular compartments in the endocytic pathway. It can either undergo proteolysis or reach the cell membrane. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Long; IsoId=P04233-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P04233-2; Sequence=VSP_005331; Name=3; IsoId=P04233-3; Sequence=VSP_037869, VSP_037870; N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Note=A chromosomal aberration involving CD74 is found in a non-small cell lung tumor. Results in the formation of a CD74- ROS1 chimeric protein. Contains 1 thyroglobulin type-1 domain. Sequence=AAA36304.1; Type=Erroneous initiation; Golgi membrane activation of MAPK activity prostaglandin biosynthetic process beta-amyloid binding positive regulation of protein phosphorylation positive regulation of cytokine-mediated signaling pathway adaptive immune response immune system process positive regulation of dendritic cell antigen processing and presentation negative regulation of peptide secretion positive regulation of type 2 immune response negative regulation of mature B cell apoptotic process cytokine receptor activity protein binding nucleus cytoplasm lysosome lysosomal membrane endosome late endosome multivesicular body vacuole endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane intracellular protein transport defense response immune response signal transduction cell proliferation external side of plasma membrane cell surface positive regulation of gene expression ER to Golgi transport vesicle membrane membrane integral component of membrane immunoglobulin mediated immune response antigen processing and presentation antigen processing and presentation of endogenous antigen antigen processing and presentation of exogenous peptide antigen via MHC class II cytokine binding MHC class II protein complex binding negative regulation of cell migration transport vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane positive regulation of B cell proliferation positive regulation of prostaglandin biosynthetic process trans-Golgi network membrane macromolecular complex positive regulation of kinase activity macrophage migration inhibitory factor signaling pathway macrophage migration inhibitory factor receptor complex NOS2-CD74 complex macrophage migration inhibitory factor binding MHC class II protein binding CD4 receptor binding MHC class II protein complex MHC class II protein binding, via antigen binding groove identical protein binding regulation of macrophage activation negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling lysosomal lumen positive regulation of MAPK cascade negative regulation of DNA damage response, signal transduction by p53 class mediator protein binding involved in protein folding T cell selection positive thymic T cell selection negative thymic T cell selection positive regulation of chemokine biosynthetic process positive regulation of interleukin-6 biosynthetic process positive regulation of interleukin-8 biosynthetic process negative regulation of T cell differentiation positive regulation of T cell differentiation positive regulation of monocyte differentiation positive regulation of transcription, DNA-templated positive regulation of viral entry into host cell positive regulation of fibroblast proliferation positive regulation of peptidyl-tyrosine phosphorylation leukocyte migration nitric-oxide synthase binding chaperone mediated protein folding requiring cofactor protein heterotetramerization positive regulation of macrophage cytokine production macromolecular complex assembly extracellular exosome protein trimerization positive regulation of ERK1 and ERK2 cascade integral component of lumenal side of endoplasmic reticulum membrane positive regulation of neutrophil chemotaxis negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator positive regulation of chemokine (C-X-C motif) ligand 2 production positive regulation of macrophage migration inhibitory factor signaling pathway  uc003lsc.1 uc003lsc.2 uc003lsc.3 uc003lsc.4 uc003lsc.5 uc003lsc.6 
ENST00000009589.8 RPS20 ENST00000009589.8 Homo sapiens ribosomal protein S20 (RPS20), transcript variant 2, mRNA. (from RefSeq NM_001023) B2R4F4 B4DW28 ENST00000009589.1 ENST00000009589.2 ENST00000009589.3 ENST00000009589.4 ENST00000009589.5 ENST00000009589.6 ENST00000009589.7 NM_001023 P17075 P60866 Q5M8S9 RS20_HUMAN uc003xsn.1 uc003xsn.2 uc003xsn.3 uc003xsn.4 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]. Component of the 40S small ribosomal subunit (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60866-1; Sequence=Displayed; Name=2; IsoId=P60866-2; Sequence=VSP_042724; Note=No experimental confirmation available; Belongs to the ribosomal protein S10P family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding structural constituent of ribosome protein binding nucleoplasm cytoplasm cytosol ribosome translation translational initiation SRP-dependent cotranslational protein targeting to membrane small ribosomal subunit membrane viral transcription cytosolic small ribosomal subunit extracellular exosome  uc003xsn.1 uc003xsn.2 uc003xsn.3 uc003xsn.4 
ENST00000010132.6 DYRK4 ENST00000010132.6 Possible non-essential role in spermiogenesis (By similarity). (from UniProt Q9NR20) DYRK4_HUMAN ENST00000010132.1 ENST00000010132.2 ENST00000010132.3 ENST00000010132.4 ENST00000010132.5 NM_001407019 Q8NEF2 Q92631 Q9NR20 uc058jzo.1 Possible non-essential role in spermiogenesis (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NR20-1; Sequence=Displayed; Note=May be due to a competing acceptor splice site. No experimental confirmation available; Name=2; IsoId=Q9NR20-2; Sequence=VSP_013745; Autophosphorylated on tyrosine residues (By similarity). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. Contains 1 protein kinase domain. Sequence=AAF91393.1; Type=Erroneous initiation; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity protein binding ATP binding nucleus cytoplasm cytoskeleton protein phosphorylation kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-tyrosine phosphorylation intracellular membrane-bounded organelle metal ion binding  uc058jzo.1 
ENST00000010299.10 FAM76A ENST00000010299.10 Homo sapiens family with sequence similarity 76 member A (FAM76A), transcript variant 1, mRNA. (from RefSeq NM_001143912) B4DWT3 ENST00000010299.1 ENST00000010299.2 ENST00000010299.3 ENST00000010299.4 ENST00000010299.5 ENST00000010299.6 ENST00000010299.7 ENST00000010299.8 ENST00000010299.9 FA76A_HUMAN NM_001143912 O95565 O95566 Q8N7J5 Q8TAV0 uc001bor.1 uc001bor.2 uc001bor.3 uc001bor.4 Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8TAV0-1; Sequence=Displayed; Name=2; IsoId=Q8TAV0-2; Sequence=VSP_019772; Note=No experimental confirmation available; Name=3; IsoId=Q8TAV0-3; Sequence=VSP_019771; Note=No experimental confirmation available; Name=4; IsoId=Q8TAV0-4; Sequence=VSP_019771, VSP_019772; Note=No experimental confirmation available; Name=5; IsoId=Q8TAV0-5; Sequence=VSP_043250, VSP_019772; Note=No experimental confirmation available; Belongs to the FAM76 family. nucleoplasm  uc001bor.1 uc001bor.2 uc001bor.3 uc001bor.4 
ENST00000010404.6 MGST1 ENST00000010404.6 Homo sapiens microsomal glutathione S-transferase 1 (MGST1), transcript variant 1, mRNA. (from RefSeq NM_145792) A8K533 ENST00000010404.1 ENST00000010404.2 ENST00000010404.3 ENST00000010404.4 ENST00000010404.5 GST12 MGST MGST1_HUMAN NM_145792 P10620 uc001rdf.1 uc001rdf.2 uc001rdf.3 uc001rdf.4 The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a wide substrate specificity. RX + glutathione = HX + R-S-glutathione. Can be activated by reagents that attack Cys-50 sulfhydryl, such as N-ethylmaleimide. Activation also occurs via nitration of Tyr-93 by peroxynitrite (By similarity). Homotrimer; The trimer binds only one molecule of glutathione (By similarity). Q8WX92:COBRA1; NbExp=2; IntAct=EBI-2691601, EBI-347721; Microsome (By similarity). Mitochondrion outer membrane; Peripheral membrane protein (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Highly expressed in liver. Peroxynitrite induces nitration at Tyr-93 which activates the enzyme (By similarity). Belongs to the MAPEG family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mgst1/"; glutathione transferase activity glutathione peroxidase activity protein binding nucleus mitochondrion mitochondrial outer membrane peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane plasma membrane glutathione metabolic process xenobiotic metabolic process response to organonitrogen compound membrane integral component of membrane transferase activity response to lipopolysaccharide Leydig cell differentiation azurophil granule membrane response to drug identical protein binding protein homodimerization activity intracellular membrane-bounded organelle glutathione binding neutrophil degranulation apical part of cell oxidation-reduction process protein homotrimerization cellular response to lipid hydroperoxide cellular oxidant detoxification glutathione derivative biosynthetic process prostaglandin biosynthetic process prostaglandin-E synthase activity  uc001rdf.1 uc001rdf.2 uc001rdf.3 uc001rdf.4 
ENST00000011292.8 CPA1 ENST00000011292.8 Homo sapiens carboxypeptidase A1 (CPA1), mRNA. (from RefSeq NM_001868) A4D1M1 CBPA1_HUMAN CPA ENST00000011292.1 ENST00000011292.2 ENST00000011292.3 ENST00000011292.4 ENST00000011292.5 ENST00000011292.6 ENST00000011292.7 NM_001868 P15085 Q53XU0 Q9BS67 Q9UCF2 uc003vpx.1 uc003vpx.2 uc003vpx.3 uc003vpx.4 uc003vpx.5 This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291493.1, BT007313.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000011292.8/ ENSP00000011292.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Carboxypeptidase that catalyzes the release of a C- terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro. Release of a C-terminal amino acid, but little or no action with -Asp, -Glu, -Arg, -Lys or -Pro. Binds 1 zinc ion per subunit. Monomer. May form a complex with proelastase 2. Secreted. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity protein binding extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity exopeptidase activity zinc ion binding hydrolase activity metal ion binding  uc003vpx.1 uc003vpx.2 uc003vpx.3 uc003vpx.4 uc003vpx.5 
ENST00000011473.6 SYPL1 ENST00000011473.6 Homo sapiens synaptophysin like 1 (SYPL1), transcript variant 1, mRNA. (from RefSeq NM_006754) ENST00000011473.1 ENST00000011473.2 ENST00000011473.3 ENST00000011473.4 ENST00000011473.5 NM_006754 Q16563 Q96AR8 SYPL SYPL1_HUMAN uc003vdp.1 uc003vdp.2 uc003vdp.3 uc003vdp.4 uc003vdp.5 Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity). Melanosome. Note=Cytoplasmic transport vesicles (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16563-1; Sequence=Displayed; Name=2; IsoId=Q16563-2; Sequence=VSP_008557; Belongs to the synaptophysin/synaptobrevin family. Contains 1 MARVEL domain. integral component of plasma membrane chemical synaptic transmission synaptic vesicle membrane integral component of membrane syntaxin-1 binding secretory granule integral component of synaptic vesicle membrane cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle melanosome extracellular exosome  uc003vdp.1 uc003vdp.2 uc003vdp.3 uc003vdp.4 uc003vdp.5 
ENST00000011619.6 RANBP9 ENST00000011619.6 Homo sapiens RAN binding protein 9 (RANBP9), mRNA. (from RefSeq NM_005493) A0PJA2 ENST00000011619.1 ENST00000011619.2 ENST00000011619.3 ENST00000011619.4 ENST00000011619.5 NM_005493 O94764 Q6P3T7 Q7LBR2 Q7Z7F9 Q96S59 RANB9_HUMAN RANBPM uc003nbb.1 uc003nbb.2 uc003nbb.3 uc003nbb.4 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF306510.1, BC052781.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000011619.6/ ENSP00000011619.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May act as an adapter protein to couple membrane receptors to intracellular signaling pathways. May be involved in signaling of ITGB2/LFA-1 and other integrins. Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation. Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity. Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA (By similarity). Interacts with NGFR and DDX4 (By similarity). Interacts with GTP-bound Ran, AR, CDC2L1/p110C, CALB1, S100A7, USP11, MKLN1, SOS1 or SOS2, GID8, and FMR1. Interacts with the Dyrk kinases HIPK2, DYRK1A, and DYRK1B. Interacts with TP73 isoform Alpha but not with TP53. Interacts with the HGF receptor MET and the integrins ITGB1 and ITGB2, but not with ITGAL. Part of a complex consisting of RANBP9, MKLN1 and GID8. Part of a complex consisting of RANBP9, RAN, DYRK1B and COPS5. Directly interacts with RANBP10. Q9NRI5:DISC1; NbExp=6; IntAct=EBI-636085, EBI-529989; Q9Y463:DYRK1B; NbExp=4; IntAct=EBI-636085, EBI-634187; P36873-2:PPP1CC; NbExp=3; IntAct=EBI-636085, EBI-3964623; P31151:S100A7; NbExp=3; IntAct=EBI-636085, EBI-357520; Cytoplasm, cytosol. Nucleus. Note==Predominantly cytoplasmic. A phosphorylated form is associated with the plasma membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96S59-1; Sequence=Displayed; Name=2; IsoId=Q96S59-2; Sequence=VSP_013175; Ubiquitously expressed, with highest levels in testes, placenta, heart, and muscle, and lowest levels in lung. Within the brain, expressed predominantly by neurons in the gray matter of cortex, the granular layer of cerebellum and the Purkinje cells. The SPRY domain mediates the interaction with MET, AR, and CDC2L1. Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated in response to stress. Can be phosphorylated by the cleaved p110 form of CDC2L1 (p110C). Ubiquitinated. Polyubiquitination targets the protein for rapid degradation via the ubiquitin system. Can be deubiquitinated by USP11. Belongs to the RANBP9/10 family. Contains 1 B30.2/SPRY domain. Contains 1 CTLH domain. Contains 1 LisH domain. According to some authors (PubMed:9817760) RANBP9 would be located in centrosomes and involved in microtubule assembly, but other authors infirmed these results in (PubMed:11470507). Sequence=AAH19886.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH52781.1; Type=Frameshift; Positions=13, 30, 34; Sequence=AAK15469.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA23216.1; Type=Erroneous initiation; Note=Translation N-terminally extended; ubiquitin ligase complex MAPK cascade protein binding nucleus cytoplasm cytosol microtubule associated complex plasma membrane microtubule nucleation axon guidance Ran GTPase binding membrane enzyme binding macromolecular complex assembly negative regulation of ERK1 and ERK2 cascade  uc003nbb.1 uc003nbb.2 uc003nbb.3 uc003nbb.4 
ENST00000011653.9 CD4 ENST00000011653.9 Homo sapiens CD4 molecule (CD4), transcript variant 9, mRNA. (from RefSeq NM_001382714) B2R737 CD4_HUMAN D3DUS5 ENST00000011653.1 ENST00000011653.2 ENST00000011653.3 ENST00000011653.4 ENST00000011653.5 ENST00000011653.6 ENST00000011653.7 ENST00000011653.8 NM_001382714 P01730 Q4ZGK2 Q5U066 Q9UDE5 uc001qqv.1 uc001qqv.2 uc001qqv.3 uc001qqv.4 This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. Accessory protein for MHC class-II antigen/T-cell receptor interaction. May regulate T-cell activation. Induces the aggregation of lipid rafts. Associates with LCK. Binds to HIV-1 gp120 and to P4HB/PDI and upon HIV-1 binding to the cell membrane, is part of P4HB/PDI- CD4-CXCR4-gp120 complex. Interacts with HIV-1 Envelope polyprotein gp160 and protein Vpu. Interacts with Human Herpes virus 7 capsid proteins. Interacts with PTK2/FAK1; this interaction requires the presence of HIV-1 gp120. Cell membrane; Single-pass type I membrane protein. Note=Localizes to lipid rafts. Removed from plasma membrane by HIV-1 Nef protein that increases clathrin-dependent endocytosis of this antigen to target it to lysosomal degradation. Cell surface expression is also down-modulated by HIV-1 Envelope polyprotein gp160 that interacts with, and sequesters CD4 in the endoplasmic reticulum. Palmitoylation and association with LCK contribute to the enrichment of CD4 in lipid rafts. The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T-lymphocytes. OKT4 reacts with T-helper/inducer lymphocytes. The OKT4 epitope of the CD4 cell-surface protein is polymorphic in white, black, and Japanese populations. The variable phenotypic expression is due a CD4 polymorphism. OKT4 positive individuals carry Arg-265 and OKT4 negative individuals carry Trp-265 [MIM:613949]. Primary receptor for HIV-1. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cd4/"; Name=Wikipedia; Note=CD4 entry; URL="http://en.wikipedia.org/wiki/CD4"; virus receptor activity cytokine production positive regulation of protein phosphorylation adaptive immune response immune system process transmembrane signaling receptor activity receptor binding extracellular matrix structural constituent protein binding early endosome endoplasmic reticulum lumen endoplasmic reticulum membrane plasma membrane integral component of plasma membrane induction by virus of host cell-cell fusion immune response cell adhesion signal transduction cell surface receptor signaling pathway enzyme linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway zinc ion binding external side of plasma membrane cell surface positive regulation of calcium ion transport into cytosol coreceptor activity membrane integral component of membrane viral process fusion of virus membrane with host plasma membrane cytokine-mediated signaling pathway immunoglobulin binding enzyme binding protein kinase binding T cell differentiation macrophage differentiation entry into host cell clathrin-coated vesicle membrane response to estradiol maintenance of protein location in cell response to vitamin D positive regulation of kinase activity helper T cell enhancement of adaptive immune response interleukin-15-mediated signaling pathway signaling receptor activity interleukin-16 binding interleukin-16 receptor activity T cell receptor complex positive regulation of T cell proliferation T cell activation MHC class II protein binding identical protein binding protein homodimerization activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAPK cascade T cell selection positive regulation of interleukin-2 biosynthetic process membrane raft positive regulation of monocyte differentiation positive regulation of protein kinase activity positive regulation of transcription, DNA-templated positive regulation of viral entry into host cell regulation of defense response to virus by virus positive regulation of peptidyl-tyrosine phosphorylation defense response to Gram-negative bacterium positive regulation of calcium-mediated signaling T cell receptor signaling pathway regulation of T cell activation positive regulation of T cell activation regulation of calcium ion transport membrane organization positive regulation of ERK1 and ERK2 cascade cellular response to granulocyte macrophage colony-stimulating factor stimulus protein tyrosine kinase binding  uc001qqv.1 uc001qqv.2 uc001qqv.3 uc001qqv.4 
ENST00000011684.11 PLEKHG6 ENST00000011684.11 Homo sapiens pleckstrin homology and RhoGEF domain containing G6 (PLEKHG6), transcript variant 1, mRNA. (from RefSeq NM_018173) ENST00000011684.1 ENST00000011684.10 ENST00000011684.2 ENST00000011684.3 ENST00000011684.4 ENST00000011684.5 ENST00000011684.6 ENST00000011684.7 ENST00000011684.8 ENST00000011684.9 NM_018173 PKHG6_HUMAN Q3KR16 Q3SWR1 Q8N1P1 Q8WYY1 Q9H8F4 Q9NVK9 uc001qnr.1 uc001qnr.2 uc001qnr.3 uc001qnr.4 Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis. Interacts with MYH10. Interacts with ELMO1 and EZR (in an open conformation). Interacts with CSPP1. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Cleavage furrow. Note=During mitosis, localizes to the spindle pole, central spindle and cleavage furrow. In epithelial cells, recruited to the apical membrane by EZR. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3KR16-1; Sequence=Displayed; Name=2; IsoId=Q3KR16-2; Sequence=VSP_028857; Note=No experimental confirmation available; Name=3; IsoId=Q3KR16-3; Sequence=VSP_028856, VSP_028858; Note=No experimental confirmation available; Highest expression in the placenta. Low levels in small intestine, lung, liver, kidney, thymus and heart. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. spindle pole Rho guanyl-nucleotide exchange factor activity GTPase activator activity protein binding cytoplasm centrosome spindle cytoskeleton microvillus cell junction cleavage furrow regulation of Rho protein signal transduction cell projection positive regulation of GTPase activity  uc001qnr.1 uc001qnr.2 uc001qnr.3 uc001qnr.4 
ENST00000011691.6 SS18L2 ENST00000011691.6 Homo sapiens SS18 like 2 (SS18L2), transcript variant 1, mRNA. (from RefSeq NM_001370300) B2R5L1 ENST00000011691.1 ENST00000011691.2 ENST00000011691.3 ENST00000011691.4 ENST00000011691.5 NM_001370300 Q9UHA2 S18L2_HUMAN uc003clk.1 uc003clk.2 uc003clk.3 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.219285.1, SRR1660809.73432.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Belongs to the SS18 family. transcription coactivator activity protein binding nucleus positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of dendrite morphogenesis  uc003clk.1 uc003clk.2 uc003clk.3 
ENST00000011700.10 VPS13D ENST00000011700.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H3BLS7) AB007922 ENST00000011700.1 ENST00000011700.2 ENST00000011700.3 ENST00000011700.4 ENST00000011700.5 ENST00000011700.6 ENST00000011700.7 ENST00000011700.8 ENST00000011700.9 H3BLS7 H3BLS7_HUMAN uc057cjn.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc057cjn.1 
ENST00000011898.10 TSPAN9 ENST00000011898.10 Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA. (from RefSeq NM_006675) D3DUQ7 ENST00000011898.1 ENST00000011898.2 ENST00000011898.3 ENST00000011898.4 ENST00000011898.5 ENST00000011898.6 ENST00000011898.7 ENST00000011898.8 ENST00000011898.9 NET5 NM_006675 O75954 Q53FV2 Q6FGJ8 TSN9_HUMAN uc001qlp.1 uc001qlp.2 uc001qlp.3 uc001qlp.4 uc001qlp.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]. Found in a complex with GP6 (By similarity). Membrane; Multi-pass membrane protein (By similarity). Note=Colocalizes with GP6 in tetraspanin microdomains on the platelet surface (By similarity). Expressed in megakaryocytes and platelets (at protein level). Glycosylated (By similarity). Belongs to the tetraspanin (TM4SF) family. molecular_function plasma membrane integral component of plasma membrane focal adhesion biological_process membrane integral component of membrane tetraspanin-enriched microdomain  uc001qlp.1 uc001qlp.2 uc001qlp.3 uc001qlp.4 uc001qlp.5 
ENST00000011989.11 CYP4F2 ENST00000011989.11 cytochrome P450 family 4 subfamily F member 2 (from HGNC CYP4F2) A0A0A0MQR0 D26480 ENST00000011989.1 ENST00000011989.10 ENST00000011989.2 ENST00000011989.3 ENST00000011989.4 ENST00000011989.5 ENST00000011989.6 ENST00000011989.7 ENST00000011989.8 ENST00000011989.9 uc060uvy.1  uc060uvy.1 
ENST00000012049.10 QPCTL ENST00000012049.10 Homo sapiens glutaminyl-peptide cyclotransferase like (QPCTL), transcript variant 1, mRNA. (from RefSeq NM_017659) ENST00000012049.1 ENST00000012049.2 ENST00000012049.3 ENST00000012049.4 ENST00000012049.5 ENST00000012049.6 ENST00000012049.7 ENST00000012049.8 ENST00000012049.9 NM_017659 Q53HE4 Q96F74 Q9NXS2 QPCTL_HUMAN uc010xxr.1 uc010xxr.2 uc010xxr.3 uc010xxr.4 Responsible for the biosynthesis of pyroglutamyl peptides. L-glutaminyl-peptide = 5-oxoprolyl-peptide + NH(3). Binds 1 zinc ion per subunit. Q9GZS1:POLR1E; NbExp=1; IntAct=EBI-1052839, EBI-359458; Golgi apparatus membrane; Single-pass type I membrane protein. Belongs to the glutaminyl-peptide cyclotransferase family. Golgi membrane Golgi apparatus zinc ion binding membrane integral component of membrane glutaminyl-peptide cyclotransferase activity transferase activity transferase activity, transferring acyl groups peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase metal ion binding  uc010xxr.1 uc010xxr.2 uc010xxr.3 uc010xxr.4 
ENST00000012134.7 HIVEP2 ENST00000012134.7 This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon- beta genes. It may act in T-cell activation. (from UniProt P31629) ENST00000012134.1 ENST00000012134.2 ENST00000012134.3 ENST00000012134.4 ENST00000012134.5 ENST00000012134.6 P31629 Q02646 Q5THT5 Q9NS05 X65644 ZEP2_HUMAN uc063ryk.1 uc063ryk.2 This protein specifically binds to the DNA sequence 5'- GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon- beta genes. It may act in T-cell activation. Interacts with TCF4 (By similarity). Nucleus. Expressed in brain and skeletal muscle. By mitogens and phorbol ester. Contains 4 C2H2-type zinc fingers. Sequence=AAB88218.1; Type=Erroneous initiation; Sequence=CAA46596.1; Type=Erroneous initiation; RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter metal ion binding  uc063ryk.1 uc063ryk.2 
ENST00000012443.9 PPP5C ENST00000012443.9 Homo sapiens protein phosphatase 5 catalytic subunit (PPP5C), transcript variant 1, mRNA. (from RefSeq NM_006247) ENST00000012443.1 ENST00000012443.2 ENST00000012443.3 ENST00000012443.4 ENST00000012443.5 ENST00000012443.6 ENST00000012443.7 ENST00000012443.8 NM_006247 P53041 PPP5 PPP5_HUMAN Q16722 Q53XV2 uc002pem.1 uc002pem.2 uc002pem.3 uc002pem.4 uc002pem.5 This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]. May play a role in the regulation of RNA biogenesis and/or mitosis. In vitro, dephosphorylates serine residues of skeletal muscle phosphorylase and histone H1. A phosphoprotein + H(2)O = a protein + phosphate. Binds 1 iron ion per subunit (By similarity). Binds 1 manganese ion per subunit (By similarity). Interacts with CDC16 and CDC27. Self; NbExp=2; IntAct=EBI-716663, EBI-716663; Q16543:CDC37; NbExp=2; IntAct=EBI-716663, EBI-295634; P03372:ESR1; NbExp=4; IntAct=EBI-716663, EBI-78473; Q92731:ESR2; NbExp=4; IntAct=EBI-716663, EBI-78505; P07900:HSP90AA1; NbExp=8; IntAct=EBI-716663, EBI-296047; Nucleus. Cytoplasm. Note=Predominantly nuclear. But also present in the cytoplasm. Ubiquitous. Belongs to the PPP phosphatase family. PP-5 (PP-T) subfamily. Contains 3 TPR repeats. MAPK cascade mitotic cell cycle negative regulation of protein phosphorylation G-protein alpha-subunit binding RNA binding phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol plasma membrane DNA repair transcription, DNA-templated protein dephosphorylation cellular response to DNA damage stimulus microtubule binding lipid binding response to lead ion membrane histone dephosphorylation hydrolase activity phosphatase activity heat shock protein binding macromolecular complex peptidyl-threonine dephosphorylation identical protein binding neuron projection neuronal cell body positive regulation of I-kappaB kinase/NF-kappaB signaling perikaryon intracellular membrane-bounded organelle response to morphine ADP binding metal ion binding tau protein binding protein oligomerization protein heterooligomerization Hsp90 protein binding negative regulation of cell death peptidyl-serine dephosphorylation cellular response to hydrogen peroxide cellular response to cadmium ion cell periphery negative regulation of neuron death response to arachidonic acid proximal dendrite positive regulation of glucocorticoid receptor signaling pathway  uc002pem.1 uc002pem.2 uc002pem.3 uc002pem.4 uc002pem.5 
ENST00000013034.3 NME1 ENST00000013034.3 Major role in the synthesis of nucleoside triphosphates other than ATP. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein- coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. (from UniProt P15531) AF487339 ENST00000013034.1 ENST00000013034.2 NDKA_HUMAN NDPKA NM23 P15531 Q6FGK3 Q86XQ2 Q9UDJ6 uc060hok.1 Major role in the synthesis of nucleoside triphosphates other than ATP. Possesses nucleoside-diphosphate kinase, serine/threonine-specific protein kinase, geranyl and farnesyl pyrophosphate kinase, histidine protein kinase and 3'-5' exonuclease activities. Involved in cell proliferation, differentiation and development, signal transduction, G protein- coupled receptor endocytosis, and gene expression. Required for neural development including neural patterning and cell fate determination. ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. Magnesium. Autophosphorylation at His-118 increases serine/threonine protein kinase activity of the enzyme. Interaction with the SET complex inhibits exonuclease activity. Hexamer of two different chains: A and B (A6, A5B, A4B2, A3B3, A2B4, AB5, B6). Interacts with SET and PRUNE. Self; NbExp=4; IntAct=EBI-741141, EBI-741141; Q61097:Ksr1 (xeno); NbExp=7; IntAct=EBI-741141, EBI-1536336; P10911:MCF2; NbExp=13; IntAct=EBI-741141, EBI-1914514; P22392:NME2; NbExp=2; IntAct=EBI-741141, EBI-713693; Q86TP1:PRUNE; NbExp=2; IntAct=EBI-741141, EBI-2127112; Q9Y3F4:STRAP; NbExp=9; IntAct=EBI-741141, EBI-727414; Q96HA8:WDYHV1; NbExp=3; IntAct=EBI-741141, EBI-741158; Cytoplasm. Nucleus. Note=Cell-cycle dependent nuclear localization which can be induced by interaction with Epstein-barr viral proteins or by degradation of the SET complex by GzmA. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=NM23-H1A; IsoId=P15531-1; Sequence=Displayed; Name=2; Synonyms=NM23-H1B; IsoId=P15531-2; Sequence=VSP_036707; Name=3; Synonyms=NM23-LV; IsoId=P22392-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an NME1-NME2 fusion protein; Isoform 1 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, pancreas, spleen and thymus. Expressed in lung carcinoma cell lines but not in normal lung tissues. Isoform 2 is ubiquitously expressed and its expression is also related to tumor differentiation. Isoform 3 is ubiquitously expressed. The role of this protein in tumor development and progression is uncertain. This protein is found in reduced amount in some tumor cells of high metastatic potential. However, increased NME1 levels correlate with aggressive tumor features in neuroblastoma. May have distinct if not opposite roles in different tumors. Belongs to the NDK family. Sequence=CAA35621.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding magnesium ion binding RNA polymerase II regulatory region sequence-specific DNA binding negative regulation of myeloid leukocyte differentiation single-stranded DNA binding RNA binding deoxyribonuclease activity nucleoside diphosphate kinase activity protein binding ATP binding GTP binding nucleus cytoplasm mitochondrial outer membrane centrosome cytosol intermediate filament purine nucleotide metabolic process nucleoside diphosphate phosphorylation GTP biosynthetic process pyrimidine nucleotide metabolic process UTP biosynthetic process CTP biosynthetic process DNA metabolic process endocytosis nervous system development lactation negative regulation of cell proliferation nucleotide metabolic process negative regulation of gene expression positive regulation of neuron projection development response to amine nucleobase-containing small molecule interconversion membrane kinase activity phosphorylation transferase activity intermediate filament binding enzyme binding hippocampus development cell differentiation mammary gland development ruffle membrane response to testosterone cellular response to drug response to drug identical protein binding regulation of apoptotic process gamma-tubulin binding ribosomal small subunit binding positive regulation of DNA binding metal ion binding perinuclear region of cytoplasm positive regulation of epithelial cell proliferation response to cAMP extracellular exosome cellular response to glucose stimulus cellular response to fatty acid  uc060hok.1 
ENST00000013070.11 UBR7 ENST00000013070.11 Homo sapiens ubiquitin protein ligase E3 component n-recognin 7 (UBR7), transcript variant 3, non-coding RNA. (from RefSeq NR_038150) C14orf130 ENST00000013070.1 ENST00000013070.10 ENST00000013070.2 ENST00000013070.3 ENST00000013070.4 ENST00000013070.5 ENST00000013070.6 ENST00000013070.7 ENST00000013070.8 ENST00000013070.9 NR_038150 Q86U21 Q86UA9 Q8N806 Q96BY0 Q9NVV6 UBR7_HUMAN uc001ybm.1 uc001ybm.2 uc001ybm.3 uc001ybm.4 uc001ybm.5 This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]. E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Protein modification; protein ubiquitination. Contains 1 PHD-type zinc finger. Contains 1 UBR-type zinc finger. Sequence=AAH15046.1; Type=Erroneous initiation; Sequence=AAH51819.4; Type=Erroneous initiation; Sequence=BAA91639.1; Type=Erroneous initiation; molecular_function cytoplasm biological_process zinc ion binding protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity  uc001ybm.1 uc001ybm.2 uc001ybm.3 uc001ybm.4 uc001ybm.5 
ENST00000013125.9 MAP4K5 ENST00000013125.9 Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 2, mRNA. (from RefSeq NM_198794) ENST00000013125.1 ENST00000013125.2 ENST00000013125.3 ENST00000013125.4 ENST00000013125.5 ENST00000013125.6 ENST00000013125.7 ENST00000013125.8 M4K5_HUMAN NM_198794 Q8IYF6 Q9Y4K4 uc001wyb.1 uc001wyb.2 uc001wyb.3 uc001wyb.4 uc001wyb.5 This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]. May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway. ATP + a protein = ADP + a phosphoprotein. Magnesium. Interacts with both SH3 domains of the adapter proteins CRK and CRKL. P46108:CRK; NbExp=5; IntAct=EBI-1279, EBI-886; P62993:GRB2; NbExp=4; IntAct=EBI-1279, EBI-401755; P16333:NCK1; NbExp=2; IntAct=EBI-1279, EBI-389883; Cytoplasm. Ubiquitously expressed in all tissues examined, with high levels in the ovary, testis and prostate. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Contains 1 CNH domain. Contains 1 protein kinase domain. nucleotide binding activation of MAPKKK activity protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm protein phosphorylation activation of JUN kinase activity MAP kinase kinase kinase kinase activity kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation activation of protein kinase activity intracellular signal transduction  uc001wyb.1 uc001wyb.2 uc001wyb.3 uc001wyb.4 uc001wyb.5 
ENST00000013222.5 INMT ENST00000013222.5 Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. (from RefSeq NM_006774) ENST00000013222.1 ENST00000013222.2 ENST00000013222.3 ENST00000013222.4 INMT_HUMAN NM_006774 O95050 Q3KP49 Q9P1Y2 Q9UBY4 Q9UHQ0 uc003tbs.1 N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019]. Functions as thioether S-methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3-methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2-methylthioethylamine, 2- methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds (By similarity). Catalyzes the N-methylation of tryptamine and structurally related compounds. S-adenosyl-L-methionine + an amine = S- adenosyl-L-homocysteine + a methylated amine. S-adenosyl-L-methionine + dimethyl sulfide = S-adenosyl-L-homocysteine + trimethylsulfonium. Kinetic parameters: KM=2.9 mM for tryptamine; Monomer (By similarity). Cytoplasm (By similarity). Widely expressed. The highest levels were in thyroid, adrenal gland, adult and fetal lung. Intermediate levels in heart, placenta, skeletal muscle, testis, small intestine, pancreas, stomach, spinal cord, lymph node and trachea. Very low levels in adult and fetal kidney and liver, in adult spleen, thymus, ovary, colon and bone marrow. Not expressed in peripheral blood leukocytes and brain. Belongs to the NNMT/PNMT/TEMT family. thioether S-methyltransferase activity protein binding cytoplasm cytosol methyltransferase activity amine metabolic process response to toxic substance transferase activity amine N-methyltransferase activity methylation  uc003tbs.1 
ENST00000013807.9 ERCC1 ENST00000013807.9 Homo sapiens ERCC excision repair 1, endonuclease non-catalytic subunit (ERCC1), transcript variant 1, mRNA. (from RefSeq NM_202001) ENST00000013807.1 ENST00000013807.2 ENST00000013807.3 ENST00000013807.4 ENST00000013807.5 ENST00000013807.6 ENST00000013807.7 ENST00000013807.8 ERCC1_HUMAN NM_202001 P07992 Q7Z7F5 Q96S40 uc002pbv.1 uc002pbv.2 uc002pbv.3 uc002pbv.4 The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]. Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Heterodimer composed of ERCC1 and XPF/ERRC4. Q8IY92:SLX4; NbExp=6; IntAct=EBI-750962, EBI-2370740; Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P07992-1; Sequence=Displayed; Name=2; IsoId=P07992-2; Sequence=VSP_042727; Note=No experimental confirmation available; Name=3; IsoId=P07992-3; Sequence=VSP_043455; Note=No experimental confirmation available; Defects in ERCC1 are the cause of cerebro-oculo-facio- skeletal syndrome type 4 (COFS4) [MIM:610758]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur. Belongs to the ERCC1/RAD10/SWI10 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LYL1ID51ch19p13.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ercc1/"; single-stranded DNA endodeoxyribonuclease activity nucleotide-excision repair complex nucleotide-excision repair factor 1 complex meiotic mismatch repair pyrimidine dimer repair by nucleotide-excision repair nuclear chromosome, telomeric region TFIID-class transcription factor binding replicative cell aging DNA binding damaged DNA binding single-stranded DNA binding nuclease activity endonuclease activity protein binding nucleus nucleoplasm transcription factor TFIID complex cytoplasm cytosol DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion double-strand break repair double-strand break repair via nonhomologous end joining DNA recombination mitotic recombination syncytium formation cellular response to DNA damage stimulus response to oxidative stress germ cell development spermatogenesis response to nutrient protein C-terminus binding cell proliferation male gonad development UV protection response to sucrose response to X-ray multicellular organism aging hydrolase activity protein domain specific binding negative regulation of telomere maintenance nucleotide-excision repair, DNA incision post-embryonic hemopoiesis multicellular organism growth response to immobilization stress interstrand cross-link repair isotype switching response to cadmium ion cell development oogenesis embryonic organ development chromosome organization telomeric DNA-containing double minutes formation ERCC4-ERCC1 complex global genome nucleotide-excision repair UV-damage excision repair t-circle formation positive regulation of t-circle formation negative regulation of protection from non-homologous end joining at telomere 3' overhang single-stranded DNA endodeoxyribonuclease activity  uc002pbv.1 uc002pbv.2 uc002pbv.3 uc002pbv.4 
ENST00000013894.3 ABHD5 ENST00000013894.3 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8W7B5) BC021958 ENST00000013894.1 ENST00000013894.2 F8W7B5 F8W7B5_HUMAN uc285uau.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc285uau.1 
ENST00000014914.6 GPRC5A ENST00000014914.6 Homo sapiens G protein-coupled receptor class C group 5 member A (GPRC5A), mRNA. (from RefSeq NM_003979) B3KV45 ENST00000014914.1 ENST00000014914.2 ENST00000014914.3 ENST00000014914.4 ENST00000014914.5 GPCR5A NM_003979 O95357 Q8NFJ5 RAI3 RAI3_HUMAN RAIG1 uc001rba.1 uc001rba.2 uc001rba.3 uc001rba.4 uc001rba.5 This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2461861.1, SRR7346977.2565752.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000014914.6/ ENSP00000014914.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Unknown. This G-protein coupled receptor could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. The comparable expression level in fetal lung and kidney with adult tissues suggests a possible role in embryonic development and maturation of these organs. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G-protein signaling pathways. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Localized in the plasma membrane and perinuclear vesicles. Expressed at high level in fetal and adult lung tissues. Constitutively expressed in fetal kidney and adult placenta, kidney, prostate, testis, ovary, small intestine, colon, stomach, and spinal chord at low to moderate levels. Not detectable in fetal heart, brain, and liver and adult heart, brain, liver, skeletal muscle, pancreas, spleen, thymus, and peripheral leukocytes. According to PubMed:10783259, expressed at low but detectable level in pancreas and heart. By all-trans retinoic acid (ATRA). Belongs to the G-protein coupled receptor 3 family. G-protein coupled receptor activity protein binding nucleolus plasma membrane integral component of plasma membrane signal transduction negative regulation of epidermal growth factor-activated receptor activity G-protein coupled receptor signaling pathway membrane integral component of membrane protein kinase activator activity cytoplasmic vesicle membrane cytoplasmic vesicle vesicle activation of protein kinase activity intracellular membrane-bounded organelle receptor complex cadherin binding extracellular exosome  uc001rba.1 uc001rba.2 uc001rba.3 uc001rba.4 uc001rba.5 
ENST00000014930.9 HEBP1 ENST00000014930.9 Homo sapiens heme binding protein 1 (HEBP1), mRNA. (from RefSeq NM_015987) A8K1G2 ENST00000014930.1 ENST00000014930.2 ENST00000014930.3 ENST00000014930.4 ENST00000014930.5 ENST00000014930.6 ENST00000014930.7 ENST00000014930.8 HBP HEBP1_HUMAN NM_015987 Q9NRV9 Q9Y5Z5 uc001rbd.1 uc001rbd.2 uc001rbd.3 uc001rbd.4 uc001rbd.5 The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279873.4554.1, SRR3476690.869805.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000014930.9/ ENSP00000014930.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May bind free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N- methylprotoporphyrin with similar affinities. Monomer. Cytoplasm. Forms a distorted beta-barrel structure, with two helices that are packed against the outer surface of the barrel. Porphyrins are expected to bind to a hydrophobic patch on the outer surface of the beta-barrel structure (By similarity). Belongs to the HEBP family. extracellular region cytoplasm G-protein coupled receptor signaling pathway circadian rhythm heme binding extracellular exosome  uc001rbd.1 uc001rbd.2 uc001rbd.3 uc001rbd.4 uc001rbd.5 
ENST00000014935.7 DNASE1L1 ENST00000014935.7 Endoplasmic reticulum. (from UniProt P49184) D3DWW7 DNAS1L1 DNL1L DNSL1_HUMAN ENST00000014935.1 ENST00000014935.2 ENST00000014935.3 ENST00000014935.4 ENST00000014935.5 ENST00000014935.6 P49184 Q5HY41 X90392 uc065cdm.1 Endoplasmic reticulum. Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain. Belongs to the DNase I family. DNA catabolic process, endonucleolytic DNA binding nuclease activity endonuclease activity deoxyribonuclease I activity deoxyribonuclease activity extracellular region nucleus endoplasmic reticulum DNA metabolic process DNA catabolic process hydrolase activity specific granule lumen neutrophil degranulation  uc065cdm.1 
ENST00000016171.6 COX15 ENST00000016171.6 Homo sapiens cytochrome c oxidase assembly homolog COX15 (COX15), transcript variant 11, non-coding RNA. (from RefSeq NR_164009) A8K6I9 COX15_HUMAN ENST00000016171.1 ENST00000016171.2 ENST00000016171.3 ENST00000016171.4 ENST00000016171.5 NR_164009 O60556 O75878 Q5TD00 Q5TD01 Q7KZN9 Q7Z3Q3 Q9NTN0 uc001kqb.1 uc001kqb.2 uc001kqb.3 uc001kqb.4 uc001kqb.5 uc001kqb.6 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2458739.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## May be involved in the biosynthesis of heme A. Porphyrin metabolism; heme A biosynthesis; heme A from heme O: step 1/1. Mitochondrion membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=COX15.1; IsoId=Q7KZN9-1; Sequence=Displayed; Name=2; Synonyms=COX15.2; IsoId=Q7KZN9-2; Sequence=VSP_011281; Note=Ref.1 (AAD08646) sequence is in conflict in position: 374:F->L; Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. Defects in COX15 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. Defects in COX15 are a cause of Leigh syndrome (LS) [MIM:256000]. An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Belongs to the COX15/CtaA family. cytochrome-c oxidase activity protein binding nucleus mitochondrion mitochondrial inner membrane mitochondrial respiratory chain mitochondrial electron transport, cytochrome c to oxygen heme biosynthetic process heme a biosynthetic process respiratory gaseous exchange respiratory chain complex IV assembly membrane integral component of membrane oxidoreductase activity, acting on the CH-CH group of donors oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor heme binding mitochondrial membrane cellular respiration oxidation-reduction process binding, bridging cytochrome complex hydrogen ion transmembrane transport  uc001kqb.1 uc001kqb.2 uc001kqb.3 uc001kqb.4 uc001kqb.5 uc001kqb.6 
ENST00000016913.8 MS4A12 ENST00000016913.8 Homo sapiens membrane spanning 4-domains A12 (MS4A12), transcript variant 1, mRNA. (from RefSeq NM_017716) ENST00000016913.1 ENST00000016913.2 ENST00000016913.3 ENST00000016913.4 ENST00000016913.5 ENST00000016913.6 ENST00000016913.7 M4A12_HUMAN NM_017716 Q8N6L4 Q9NXJ0 uc001npr.1 uc001npr.2 uc001npr.3 uc001npr.4 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. May be involved in signal transduction as a component of a multimeric receptor complex. Membrane; Multi-pass membrane protein. Belongs to the MS4A family. protein binding membrane integral component of membrane  uc001npr.1 uc001npr.2 uc001npr.3 uc001npr.4 
ENST00000016946.8 RGPD5 ENST00000016946.8 Homo sapiens RANBP2 like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. (from RefSeq NM_005054) ENST00000016946.1 ENST00000016946.2 ENST00000016946.3 ENST00000016946.4 ENST00000016946.5 ENST00000016946.6 ENST00000016946.7 NM_005054 V9HWE4 uc061mtq.1 uc061mtq.2 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008].  uc061mtq.1 uc061mtq.2 
ENST00000017003.7 XYLT2 ENST00000017003.7 Homo sapiens xylosyltransferase 2 (XYLT2), transcript variant 1, mRNA. (from RefSeq NM_022167) ENST00000017003.1 ENST00000017003.2 ENST00000017003.3 ENST00000017003.4 ENST00000017003.5 ENST00000017003.6 NM_022167 Q6UY41 Q86V00 Q9H1B5 UNQ3058/PRO9878 XT2 XYLT2_HUMAN uc002iqo.1 uc002iqo.2 uc002iqo.3 uc002iqo.4 uc002iqo.5 uc002iqo.6 The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. Probably catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans in fibroblasts and chondrocytes (By similarity). Its enzyme activity has not been demonstrated. Transfers a beta-D-xylosyl residue from UDP-D- xylose to the serine hydroxy group of an acceptor protein substrate. Divalent cations (By similarity). Glycan metabolism; chondroitin sulfate biosynthesis. Glycan metabolism; heparan sulfate biosynthesis. Monomer (By similarity). Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H1B5-1; Sequence=Displayed; Name=2; IsoId=Q9H1B5-2; Sequence=VSP_013758, VSP_013759; Note=No experimental confirmation available; Widely expressed. Expressed at higher level in kidney and pancreas. Contains disulfide bonds (By similarity). Belongs to the glycosyltransferase 14 family. XylT subfamily. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT2"; Golgi membrane magnesium ion binding extracellular region extracellular space Golgi apparatus glycosaminoglycan biosynthetic process acetylglucosaminyltransferase activity heparan sulfate proteoglycan biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups manganese ion binding protein xylosyltransferase activity proteoglycan biosynthetic process glycosaminoglycan metabolic process chondroitin sulfate biosynthetic process heparin biosynthetic process metal ion binding chondroitin sulfate proteoglycan biosynthetic process  uc002iqo.1 uc002iqo.2 uc002iqo.3 uc002iqo.4 uc002iqo.5 uc002iqo.6 
ENST00000019019.6 FTSJ1 ENST00000019019.6 Homo sapiens FtsJ RNA 2'-O-methyltransferase 1 (FTSJ1), transcript variant 3, mRNA. (from RefSeq NM_177439) B2RCJ0 ENST00000019019.1 ENST00000019019.2 ENST00000019019.3 ENST00000019019.4 ENST00000019019.5 JM23 NM_177439 O75670 Q9UET6 RRMJ1_HUMAN uc004djn.1 uc004djn.2 uc004djn.3 This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. S-adenosyl-L-methionine + rRNA = S-adenosyl-L- homocysteine + rRNA containing 2'-O-methyluridine. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UET6-1; Sequence=Displayed; Name=2; IsoId=Q9UET6-2; Sequence=VSP_041419; Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus. Defects in FTSJ1 are the cause of mental retardation X- linked type 44 (MRX44) [MIM:309549]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Belongs to the methyltransferase superfamily. RlmE family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FTSJ1"; RNA methylation tRNA nucleoside ribose methylation cytoplasmic translation cytoplasm cytosol tRNA modification tRNA processing methyltransferase activity tRNA methyltransferase activity tRNA (guanosine-2'-O-)-methyltransferase activity transferase activity tRNA methylation methylation tRNA (cytosine-2'-O-)-methyltransferase activity  uc004djn.1 uc004djn.2 uc004djn.3 
ENST00000019103.8 SCTR ENST00000019103.8 Homo sapiens secretin receptor (SCTR), mRNA. (from RefSeq NM_002980) ENST00000019103.1 ENST00000019103.2 ENST00000019103.3 ENST00000019103.4 ENST00000019103.5 ENST00000019103.6 ENST00000019103.7 NM_002980 P47872 Q12961 Q13213 Q53T00 SCTR_HUMAN uc002tma.1 uc002tma.2 uc002tma.3 uc002tma.4 uc002tma.5 The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035757.1, U28281.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000019103.8/ ENSP00000019103.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## This is a receptor for secretin. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 2 family. diet induced thermogenesis transmembrane signaling receptor activity G-protein coupled receptor activity cytoplasmic microtubule plasma membrane signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway brain development G-protein coupled peptide receptor activity cellular water homeostasis secretin receptor activity membrane integral component of membrane peptide hormone binding response to nutrient levels regulation of appetite positive regulation of cAMP-mediated signaling regulation of synaptic plasticity  uc002tma.1 uc002tma.2 uc002tma.3 uc002tma.4 uc002tma.5 
ENST00000019317.8 RALBP1 ENST00000019317.8 Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. (from UniProt Q15311) BC013126 D3DUI0 ENST00000019317.1 ENST00000019317.2 ENST00000019317.3 ENST00000019317.4 ENST00000019317.5 ENST00000019317.6 ENST00000019317.7 Q15311 RBP1_HUMAN RLIP1 RLIP76 uc002kob.1 uc002kob.2 uc002kob.3 uc002kob.4 Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin. Interacts with the GTP-bound form of RALA, RALB, CDC42 and RAC1. Interacts with REPS1 and REPS2 and this does not affect the Ral-binding activity. Interacts with DAB2IP. Interacts with catalytically active CCNB1 and CDK1 during mitosis. Interacts with EPN1, NUMB and TFAP2A during interphase and mitosis. Membrane; Peripheral membrane protein. Expressed ubiquitously but at low levels. Shows a strong expression in the erythrocytes. Contains 1 Rho-GAP domain. GTPase activator activity protein binding cytosol endocytosis chemotaxis signal transduction small GTPase mediated signal transduction membrane Ral GTPase binding transmembrane transporter activity ATPase activity, coupled to transmembrane movement of substances xenobiotic transporter activity regulation of GTPase activity positive regulation of GTPase activity Rac GTPase binding regulation of small GTPase mediated signal transduction transmembrane transport doxorubicin transport drug transmembrane export  uc002kob.1 uc002kob.2 uc002kob.3 uc002kob.4 
ENST00000020673.6 PSD ENST00000020673.6 Homo sapiens pleckstrin and Sec7 domain containing (PSD), transcript variant 1, mRNA. (from RefSeq NM_002779) A5PKW4 B1AKX7 D3DR87 EFA6 ENST00000020673.1 ENST00000020673.2 ENST00000020673.3 ENST00000020673.4 ENST00000020673.5 KIAA2011 NM_002779 PSD1 PSD1_HUMAN Q15673 Q8IVG0 TYL uc001kvg.1 uc001kvg.2 uc001kvg.3 uc001kvg.4 This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. Guanine nucleotide exchange factor for ARF6. Induces cytoskeletal remodeling (By similarity). Interacts with ACTN1 (By similarity). Cell membrane (By similarity). Cell projection, ruffle (By similarity). Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms may exist; Name=1; IsoId=A5PKW4-1; Sequence=Displayed; Name=2; IsoId=A5PKW4-2; Sequence=VSP_031186; Isoform 2 is expressed in the brain. Belongs to the PSD family. Contains 1 PH domain. Contains 1 SEC7 domain. Sequence=BAC23107.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity protein binding phospholipid binding plasma membrane signal transduction postsynaptic density membrane neuron projection development regulation of ARF protein signal transduction cleavage furrow ruffle membrane cell projection dendritic spine extrinsic component of postsynaptic endosome membrane postsynaptic density, intracellular component  uc001kvg.1 uc001kvg.2 uc001kvg.3 uc001kvg.4 
ENST00000020926.8 SYT13 ENST00000020926.8 Homo sapiens synaptotagmin 13 (SYT13), transcript variant 1, mRNA. (from RefSeq NM_020826) A8K4P4 D3DQP1 ENST00000020926.1 ENST00000020926.2 ENST00000020926.3 ENST00000020926.4 ENST00000020926.5 ENST00000020926.6 ENST00000020926.7 KIAA1427 NM_020826 Q7L8C5 Q9BQS3 Q9H041 Q9P2C0 SYT13_HUMAN uc001myq.1 uc001myq.2 uc001myq.3 uc001myq.4 This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. May be involved in transport vesicle docking to the plasma membrane (By similarity). Interacts with NRXN1 (By similarity). Membrane; Single-pass membrane protein (By similarity). Expressed in brain, pancreas and kidney. The first C2 domain/C2A does not mediate Ca(2+)-dependent phospholipid binding (By similarity). The second C2 domain/C2B domain binds phospholipids regardless of whether calcium is present (By similarity). Belongs to the synaptotagmin family. Contains 2 C2 domains. Sequence=BAA92665.1; Type=Erroneous initiation; SNARE binding phosphatidylserine binding calcium ion binding calcium-dependent phospholipid binding plasma membrane integral component of plasma membrane regulation of dopamine secretion membrane integral component of membrane vesicle-mediated transport calcium ion regulated exocytosis regulation of calcium ion-dependent exocytosis transport vesicle clathrin binding axon neuron projection intracellular membrane-bounded organelle exocytic vesicle cellular response to calcium ion  uc001myq.1 uc001myq.2 uc001myq.3 uc001myq.4 
ENST00000020945.4 SNAI2 ENST00000020945.4 Homo sapiens snail family transcriptional repressor 2 (SNAI2), mRNA. (from RefSeq NM_003068) B2R6P6 ENST00000020945.1 ENST00000020945.2 ENST00000020945.3 NM_003068 O43623 SLUG SLUGH SNAI2_HUMAN uc286arv.1 uc286arv.2 This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK223368.1, SRR3476690.115526.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000020945.4/ ENSP00000020945.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcriptional repressor. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Interacts (via SNAG domain) with LIMD1 (via LIM domains), WTIP (via LIM domains) and AJUBA (via LIM domains) (By similarity). Nucleus (Probable). Expressed in placenta and adult heart, pancreas, liver, kidney and skeletal muscle. Defects in SNAI2 are the cause of Waardenburg syndrome type 2D (WS2D) [MIM:608890]. WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. Belongs to the snail C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SNAI2ID453.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding osteoblast differentiation epithelial to mesenchymal transition aortic valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation cell migration involved in endocardial cushion formation nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated negative regulation of cell adhesion involved in substrate-bound cell migration Notch signaling pathway multicellular organism development sensory perception of sound response to radiation negative regulation of keratinocyte proliferation negative regulation of vitamin D biosynthetic process neural crest cell development cell migration positive regulation of cell migration negative regulation of chondrocyte differentiation regulation of chemokine production negative regulation of cell adhesion mediated by integrin positive regulation of histone acetylation desmosome disassembly negative regulation of apoptotic process pigmentation negative regulation of DNA damage response, signal transduction by p53 class mediator sequence-specific DNA binding positive regulation of fat cell differentiation regulation of osteoblast differentiation metal ion binding white fat cell differentiation palate development epithelium development cartilage morphogenesis regulation of branching involved in salivary gland morphogenesis Notch signaling involved in heart development negative regulation of vitamin D receptor signaling pathway E-box binding cellular response to epidermal growth factor stimulus cellular response to ionizing radiation negative regulation of canonical Wnt signaling pathway negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of stem cell proliferation regulation of bicellular tight junction assembly negative regulation of anoikis negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  uc286arv.1 uc286arv.2 
ENST00000022615.9 VDAC3 ENST00000022615.9 Homo sapiens voltage dependent anion channel 3 (VDAC3), transcript variant 1, mRNA. (from RefSeq NM_005662) ENST00000022615.1 ENST00000022615.2 ENST00000022615.3 ENST00000022615.4 ENST00000022615.5 ENST00000022615.6 ENST00000022615.7 ENST00000022615.8 NM_005662 Q9UIS0 Q9Y277 VDAC3_HUMAN uc003xpc.1 uc003xpc.2 uc003xpc.3 uc003xpc.4 uc003xpc.5 This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity). Mitochondrion outer membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y277-1; Sequence=Displayed; Name=2; IsoId=Q9Y277-2; Sequence=VSP_005079; Widely expressed. Highest in testis. Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands (By similarity). Belongs to the eukaryotic mitochondrial porin family. nucleotide binding behavioral fear response protein binding nucleus mitochondrion mitochondrial outer membrane ion transport chemical synaptic transmission neuron-neuron synaptic transmission learning voltage-gated anion channel activity porin activity inorganic anion transport adenine transport membrane integral component of membrane pore complex transmembrane transport extracellular exosome anion transmembrane transport regulation of cilium assembly  uc003xpc.1 uc003xpc.2 uc003xpc.3 uc003xpc.4 uc003xpc.5 
ENST00000023064.9 SLC7A9 ENST00000023064.9 Homo sapiens solute carrier family 7 member 9 (SLC7A9), transcript variant 1, mRNA. (from RefSeq NM_014270) B2R9A6 BAT1 BAT1_HUMAN ENST00000023064.1 ENST00000023064.2 ENST00000023064.3 ENST00000023064.4 ENST00000023064.5 ENST00000023064.6 ENST00000023064.7 ENST00000023064.8 NM_014270 P82251 uc002ntu.1 uc002ntu.2 uc002ntu.3 uc002ntu.4 uc002ntu.5 uc002ntu.6 uc002ntu.7 This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]. Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high- affinity reabsorption of cystine in the kidney tubule. Disulfide-linked heterodimer with the amino acid transport protein SLC3A1. Membrane; Multi-pass membrane protein (Probable). Kidney, small intestine, liver and placenta. Defects in SLC7A9 are a cause of non-type I cystinuria (CSNU) [MIM:220100]. CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent); type II (high excretor); type III (moderate excretor). Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non-classic type I cystinuria cases. Belongs to the amino acid-polyamine-organocation (APC) superfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC7A9"; amino acid transmembrane transport protein binding plasma membrane integral component of plasma membrane amino acid transport amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity L-cystine transmembrane transporter activity neutral amino acid transport L-cystine transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity brush border membrane peptide antigen binding leukocyte migration transmembrane transport macromolecular complex assembly L-alpha-amino acid transmembrane transport  uc002ntu.1 uc002ntu.2 uc002ntu.3 uc002ntu.4 uc002ntu.5 uc002ntu.6 uc002ntu.7 
ENST00000023897.10 GABRA1 ENST00000023897.10 Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha1 (GABRA1), transcript variant 1, mRNA. (from RefSeq NM_000806) D3DQK6 ENST00000023897.1 ENST00000023897.2 ENST00000023897.3 ENST00000023897.4 ENST00000023897.5 ENST00000023897.6 ENST00000023897.7 ENST00000023897.8 ENST00000023897.9 GBRA1_HUMAN NM_000806 P14867 Q8N629 uc010jiw.1 uc010jiw.2 uc010jiw.3 uc010jiw.4 This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]. GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. Binds UBQLN1 (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with TRAK1 (By similarity). Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Defects in GABRA1 are the cause of childhood absence epilepsy type 4 (ECA4) [MIM:611136]. A subtype of idiopathic generalized epilepsy characterized by onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures may develop. Absence seizures may either remit or persist into adulthood. Defects in GABRA1 are the cause of juvenile myoclonic epilepsy type 5 (EJM5) [MIM:611136]. A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub-subfamily. Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt056.shtml"; transmembrane signaling receptor activity GABA-A receptor activity ion channel activity extracellular ligand-gated ion channel activity inhibitory extracellular ligand-gated ion channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction gamma-aminobutyric acid signaling pathway chemical synaptic transmission drug binding membrane integral component of membrane GABA receptor activity GABA-gated chloride ion channel activity cell junction cytoplasmic vesicle membrane cytoplasmic vesicle dendrite membrane ion transmembrane transport chloride channel complex regulation of membrane potential neuron projection synapse postsynaptic membrane neurological system process synaptic transmission, GABAergic regulation of postsynaptic membrane potential cellular response to histamine postsynapse GABA-ergic synapse integral component of postsynaptic specialization membrane chloride transmembrane transport GABA receptor complex GABA-A receptor complex transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential inhibitory synapse assembly benzodiazepine receptor activity  uc010jiw.1 uc010jiw.2 uc010jiw.3 uc010jiw.4 
ENST00000023939.8 RTF2 ENST00000023939.8 Homo sapiens replication termination factor 2 (RTF2), transcript variant 1, mRNA. (from RefSeq NM_001283035) A0A0A0MQR2 ENST00000023939.1 ENST00000023939.2 ENST00000023939.3 ENST00000023939.4 ENST00000023939.5 ENST00000023939.6 ENST00000023939.7 NM_001283035 uc010zzf.1 uc010zzf.2  uc010zzf.1 uc010zzf.2 
ENST00000024061.7 SLC45A4 ENST00000024061.7 Homo sapiens solute carrier family 45 member 4 (SLC45A4), transcript variant 2, mRNA. (from RefSeq NM_001080431) ENST00000024061.1 ENST00000024061.2 ENST00000024061.3 ENST00000024061.4 ENST00000024061.5 ENST00000024061.6 KIAA1126 NM_001080431 Q5BKX6 Q6ZRI2 Q9ULU3 S45A4_HUMAN uc003ywd.1 uc003ywd.2 uc003ywd.3 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5BKX6-1; Sequence=Displayed; Name=2; IsoId=Q5BKX6-2; Sequence=VSP_033540, VSP_033541; Name=3; IsoId=Q5BKX6-3; Sequence=VSP_033540, VSP_033541, VSP_033542; Note=No experimental confirmation available. Ref.1 (BAC87328) sequence is in conflict in position: 787:E->K; Belongs to the glycoside-pentoside-hexuronide (GPH) cation symporter transporter (TC 2.A.2) family. Sequence=AAH90891.1; Type=Erroneous initiation; sucrose:proton symporter activity sucrose transport membrane integral component of membrane  uc003ywd.1 uc003ywd.2 uc003ywd.3 
ENST00000025008.10 RB1CC1 ENST00000025008.10 Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. (from RefSeq NM_014781) ENST00000025008.1 ENST00000025008.2 ENST00000025008.3 ENST00000025008.4 ENST00000025008.5 ENST00000025008.6 ENST00000025008.7 ENST00000025008.8 ENST00000025008.9 KIAA0203 NM_014781 Q86YR4 Q8TDY2 Q8WVU9 Q92601 RBCC1_HUMAN RBICC uc003xre.1 uc003xre.2 uc003xre.3 uc003xre.4 uc003xre.5 uc003xre.6 The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]. Implicated in the regulation of RB1 expression. Functions as a DNA-binding transcription factor. Is a potent regulator of the RB1 pathway and a mediator that plays a crucial role in muscular differentiation. Expression is, thus, a prerequisite for myogenic differentiation. Involved in autophagy. Required for autophagosome formation (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 activity and activation of downstream signaling pathways. Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1. This complex associates with ATG101. Interacts with PTK2/FAK1 and PTK2B/PYK2. O75143:ATG13; NbExp=5; IntAct=EBI-1047793, EBI-2798775; A7MCY6:TBKBP1; NbExp=2; IntAct=EBI-1047793, EBI-359969; O75385:ULK1; NbExp=4; IntAct=EBI-1047793, EBI-908831; Nucleus. Cytoplasm, cytosol. Preautophagosomal structure (By similarity). Note=Under starvation conditions, is localized to puncate structures primarily representing the isolation membrane that sequesters a portion of the cytoplasm resulting in the formation of an autophagosome (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDY2-1; Sequence=Displayed; Name=2; IsoId=Q8TDY2-2; Sequence=VSP_040097; Note=No experimental confirmation available; Expression levels correlated closely with those of RB1 in cancer cell lines as well as in various normal human tissues. Abundantly expressed in human musculoskeletal and cultured osteosarcoma cells. Expression was difficult to detect in immature proliferating chondroblasts or myogenic cells in embryos, but became obvious and prominent concomitantly with the maturation of osteocytes, chondrocytes, and skeletal muscle cells. Expression in these musculoskeletal cells increased with RB1 expression, which is linked to the terminal differentiation of many tissues and cells. The introduction of the wild-type protein decreased the formation of macroscopic colonies in a cell growth assay. Probably involved in the tumorigenesis of breast cancer. RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene. Sequence=BAA13194.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; autophagosome assembly pre-autophagosomal structure mitophagy liver development positive regulation of protein phosphorylation protein binding nucleus cytoplasm lysosome endoplasmic reticulum membrane cytosol autophagy cell cycle heart development macroautophagy regulation of macroautophagy extrinsic component of membrane protein kinase binding pexophagy nuclear membrane pre-autophagosomal structure membrane piecemeal microautophagy of nucleus negative regulation of apoptotic process positive regulation of cell size positive regulation of JNK cascade reticulophagy glycophagy ATG1/ULK1 kinase complex negative regulation of extrinsic apoptotic signaling pathway  uc003xre.1 uc003xre.2 uc003xre.3 uc003xre.4 uc003xre.5 uc003xre.6 
ENST00000025301.4 AKAP11 ENST00000025301.4 Homo sapiens A-kinase anchoring protein 11 (AKAP11), mRNA. (from RefSeq NM_016248) AKA11_HUMAN AKAP220 ENST00000025301.1 ENST00000025301.2 ENST00000025301.3 KIAA0629 NM_016248 O75124 Q9NUK7 Q9UKA4 uc001uys.1 uc001uys.2 uc001uys.3 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF176555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000025301.4/ ENSP00000025301.2 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Binds to type II regulatory subunits of protein kinase A and anchors/targets them. Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Note=Cytoplasmic in premeiotic pachytene spermatocytes and in the centrosome of developing postmeiotic germ cells, while a midpiece/centrosome localization was found in elongating spermatocytes and mature sperm. Expressed in heart, brain, lung, liver, kidney, testis and ovary. Weakly expressed in skeletal muscle, pancreas and spleen. RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. Belongs to the AKAP110 family. Sequence=BAA92117.1; Type=Erroneous initiation; protein binding nucleolus cytoplasm peroxisome microtubule organizing center cytosol cytoskeleton plasma membrane protein localization protein phosphatase 1 binding intracellular signal transduction protein kinase A binding  uc001uys.1 uc001uys.2 uc001uys.3 
ENST00000025399.10 STRAP ENST00000025399.10 The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. STRAP may play a role in the cellular distribution of the SMN complex. Negatively regulates TGF-beta signaling but positively regulates the PDPK1 kinase activity by enhancing its autophosphorylation and by significantly reducing the association of PDPK1 with 14-3-3 protein. (from UniProt Q9Y3F4) AK297942 B2R5S5 ENST00000025399.1 ENST00000025399.2 ENST00000025399.3 ENST00000025399.4 ENST00000025399.5 ENST00000025399.6 ENST00000025399.7 ENST00000025399.8 ENST00000025399.9 MAWD Q5TZT4 Q9NTK0 Q9UQC8 Q9Y3F4 STRAP_HUMAN UNRIP uc010shw.1 uc010shw.2 uc010shw.3 The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus. STRAP may play a role in the cellular distribution of the SMN complex. Negatively regulates TGF-beta signaling but positively regulates the PDPK1 kinase activity by enhancing its autophosphorylation and by significantly reducing the association of PDPK1 with 14-3-3 protein. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Binds directly to GEMIN6 and GEMIN7. Associates with the complex in the cytoplasm but not in the nucleus. Also interacts with CSDE1/UNR and MAWBP. Interacts with PDPK1. P15531:NME1; NbExp=9; IntAct=EBI-727414, EBI-741141; Cytoplasm. Nucleus. Note=Localized predominantly in the cytoplasm but also found in the nucleus. Belongs to the WD repeat STRAP family. Contains 7 WD repeats. negative regulation of transcription from RNA polymerase II promoter spliceosomal snRNP assembly RNA binding receptor binding protein binding nucleus nucleoplasm cytoplasm cytosol mRNA processing RNA splicing negative regulation of epithelial cell migration negative regulation of epithelial to mesenchymal transition maintenance of gastrointestinal epithelium negative regulation of transforming growth factor beta receptor signaling pathway SMN complex SMN-Sm protein complex negative regulation of epithelial cell proliferation negative regulation of pathway-restricted SMAD protein phosphorylation  uc010shw.1 uc010shw.2 uc010shw.3 
ENST00000026218.9 PIGQ ENST00000026218.9 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class Q (PIGQ), transcript variant 1, mRNA. (from RefSeq NM_148920) A2IDE1 D3DU52 ENST00000026218.1 ENST00000026218.2 ENST00000026218.3 ENST00000026218.4 ENST00000026218.5 ENST00000026218.6 ENST00000026218.7 ENST00000026218.8 GPI1 NM_148920 O14927 PIGQ_HUMAN Q96G00 Q96S22 Q9BRB3 Q9UJH4 uc002cho.1 uc002cho.2 uc002cho.3 uc002cho.4 This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]. Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. UDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BRB3-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q9BRB3-2; Sequence=VSP_007281, VSP_007282; Name=3; IsoId=Q9BRB3-3; Sequence=VSP_007279, VSP_007280; Note=No experimental confirmation available; Belongs to the PIGQ family. glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex endoplasmic reticulum membrane carbohydrate metabolic process GPI anchor biosynthetic process membrane integral component of membrane preassembly of GPI anchor in ER membrane transferase activity transferase activity, transferring glycosyl groups phosphatidylinositol N-acetylglucosaminyltransferase activity  uc002cho.1 uc002cho.2 uc002cho.3 uc002cho.4 
ENST00000027335.8 CDH17 ENST00000027335.8 Homo sapiens cadherin 17 (CDH17), transcript variant 1, mRNA. (from RefSeq NM_004063) CAD17_HUMAN ENST00000027335.1 ENST00000027335.2 ENST00000027335.3 ENST00000027335.4 ENST00000027335.5 ENST00000027335.6 ENST00000027335.7 NM_004063 Q12864 Q15336 Q2M2E0 uc003ygh.1 uc003ygh.2 uc003ygh.3 uc003ygh.4 This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. Cell membrane; Single-pass type I membrane protein (Potential). Expressed in the gastrointestinal tract and pancreatic duct. Not detected in kidney, lung, liver, brain, adrenal gland and skin. Contains 7 cadherin domains. cell morphogenesis germinal center B cell differentiation marginal zone B cell differentiation integrin binding transporter activity proton-dependent oligopeptide secondary active transmembrane transporter activity calcium ion binding nucleus plasma membrane cell-cell adherens junction oligopeptide transport cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules integrin-mediated signaling pathway cytoskeletal protein binding cell surface membrane integral component of membrane basolateral plasma membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex cell junction B cell differentiation positive regulation of integrin activation by cell surface receptor linked signal transduction adherens junction organization oligopeptide transmembrane transport protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding metal ion binding spleen development cell-cell adhesion  uc003ygh.1 uc003ygh.2 uc003ygh.3 uc003ygh.4 
ENST00000028008.9 RNASET2 ENST00000028008.9 Belongs to the RNase T2 family. (from UniProt J3QQ64) BC036282 ENST00000028008.1 ENST00000028008.2 ENST00000028008.3 ENST00000028008.4 ENST00000028008.5 ENST00000028008.6 ENST00000028008.7 ENST00000028008.8 J3QQ64 J3QQ64_HUMAN uc063svx.1 Belongs to the RNase T2 family. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. RNA binding ribonuclease T2 activity RNA phosphodiester bond hydrolysis, endonucleolytic  uc063svx.1 
ENST00000029410.10 B4GALT7 ENST00000029410.10 Homo sapiens beta-1,4-galactosyltransferase 7 (B4GALT7), mRNA. (from RefSeq NM_007255) B3KN39 B4GT7_HUMAN ENST00000029410.1 ENST00000029410.2 ENST00000029410.3 ENST00000029410.4 ENST00000029410.5 ENST00000029410.6 ENST00000029410.7 ENST00000029410.8 ENST00000029410.9 NM_007255 Q9UBV7 Q9UHN2 UNQ748/PRO1478 XGALT1 uc003mhy.1 uc003mhy.2 uc003mhy.3 uc003mhy.4 uc003mhy.5 This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.310844.1, SRR1163655.38696.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000029410.10/ ENSP00000029410.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. UDP-alpha-D-galactose + O-beta-D-xylosyl- [protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein]. Manganese. Protein modification; protein glycosylation. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Cis cisternae of Golgi stack. High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung. Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]. EDSP is a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits. Belongs to the glycosyltransferase 7 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4-galactosyltransferase 7; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_442"; Golgi membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity protein binding Golgi apparatus carbohydrate metabolic process glycosaminoglycan biosynthetic process proteoglycan metabolic process cellular protein modification process protein glycosylation protein N-linked glycosylation galactosyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups manganese ion binding glycosaminoglycan metabolic process Golgi cisterna membrane xylosylprotein 4-beta-galactosyltransferase activity metal ion binding negative regulation of fibroblast proliferation supramolecular fiber organization  uc003mhy.1 uc003mhy.2 uc003mhy.3 uc003mhy.4 uc003mhy.5 
ENST00000031146.8 SLC39A9 ENST00000031146.8 Homo sapiens solute carrier family 39 member 9 (SLC39A9), transcript variant 6, mRNA. (from RefSeq NM_001330185) ENST00000031146.1 ENST00000031146.2 ENST00000031146.3 ENST00000031146.4 ENST00000031146.5 ENST00000031146.6 ENST00000031146.7 M0QX28 NM_001330185 uc059cvd.1  uc059cvd.1 
ENST00000033079.7 FAM13B ENST00000033079.7 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYF5-1; Sequence=Displayed; Name=2; IsoId=Q9NYF5-2; Sequence=VSP_042048; Note=No experimental confirmation available; (from UniProt Q9NYF5) C5orf5 D3DQB5 ENST00000033079.1 ENST00000033079.2 ENST00000033079.3 ENST00000033079.4 ENST00000033079.5 ENST00000033079.6 FA13B_HUMAN FAM13B1 NR_169826 Q3ZCR0 Q6PGQ2 Q9NYF5 Q9P0I7 uc003lbz.1 uc003lbz.2 uc003lbz.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYF5-1; Sequence=Displayed; Name=2; IsoId=Q9NYF5-2; Sequence=VSP_042048; Note=No experimental confirmation available; Belongs to the FAM13 family. Contains 1 Rho-GAP domain. Sequence=AAF67482.1; Type=Frameshift; Positions=734; Sequence=AAF67482.1; Type=Miscellaneous discrepancy; GTPase activator activity cytosol signal transduction positive regulation of GTPase activity regulation of small GTPase mediated signal transduction  uc003lbz.1 uc003lbz.2 uc003lbz.3 
ENST00000034275.12 RANBP3 ENST00000034275.12 Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-b, mRNA. (from RefSeq NM_007320) B2RAT8 ENST00000034275.1 ENST00000034275.10 ENST00000034275.11 ENST00000034275.2 ENST00000034275.3 ENST00000034275.4 ENST00000034275.5 ENST00000034275.6 ENST00000034275.7 ENST00000034275.8 ENST00000034275.9 NM_007320 O60405 O75759 O75760 Q9BT47 Q9H6Z4 Q9UG74 RANB3_HUMAN uc002mdy.1 uc002mdy.2 uc002mdy.3 uc002mdy.4 This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF- beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export. Interacts with CHC1 in a Ran-stimulated manner. Interacts with XPO1. Interacts (via its C-terminal R domain) with SMAD2 (dephosphorylated form via its MH1 and MH2 domains); the interaction results in the nuclear export of SMAD2 and termination of the TGF-beta signaling. Interacts (via its C-terminal R domain) with SMAD3 (dephosphorylated form via its MH1 domain); the interaction results in the nuclear export of SMAD3 and termination of the TGF-beta signaling. P18754:RCC1; NbExp=2; IntAct=EBI-992681, EBI-992720; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H6Z4-1; Sequence=Displayed; Name=2; Synonyms=Ranbp3-a; IsoId=Q9H6Z4-2; Sequence=VSP_011162; Name=3; Synonyms=Ranbp3-b; IsoId=Q9H6Z4-3; Sequence=VSP_011163; Widely expressed with high levels in testis and heart. Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 1 RanBD1 domain. Sequence=AAH04349.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=CAB43293.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding nucleus nuclear pore nucleoplasm cytoplasm protein export from nucleus Ran GTPase binding protein transport positive regulation of GTPase activity intracellular transport R-SMAD binding GTPase activator activity  uc002mdy.1 uc002mdy.2 uc002mdy.3 uc002mdy.4 
ENST00000035307.7 CHPF2 ENST00000035307.7 Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N- acetylgalactosaminyltransferase activity. (from UniProt Q9P2E5) B2DBD8 CHPF2_HUMAN CHSY3 CSGLCAT ENST00000035307.1 ENST00000035307.2 ENST00000035307.3 ENST00000035307.4 ENST00000035307.5 ENST00000035307.6 KIAA1402 NR_171547 Q6P2I4 Q6UXD2 Q9P2E5 UNQ299/PRO339 uc003wjr.1 uc003wjr.2 uc003wjr.3 uc003wjr.4 Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N- acetylgalactosaminyltransferase activity. UDP-alpha-D-glucuronate + N-acetyl-beta-D- galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2E5-1; Sequence=Displayed; Name=2; IsoId=Q9P2E5-2; Sequence=VSP_012724, VSP_012725; Note=No experimental confirmation available; Ubiquitous. Highly expressed in placenta, small intestine and pancreas. Belongs to the chondroitin N- acetylgalactosaminyltransferase family. Sequence=BAA92640.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane Golgi apparatus acetylgalactosaminyltransferase activity membrane integral component of membrane transferase activity chondroitin sulfate biosynthetic process Golgi cisterna membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity  uc003wjr.1 uc003wjr.2 uc003wjr.3 uc003wjr.4 
ENST00000037243.7 GABARAPL2 ENST00000037243.7 Homo sapiens GABA type A receptor associated protein like 2 (GABARAPL2), mRNA. (from RefSeq NM_007285) ENST00000037243.1 ENST00000037243.2 ENST00000037243.3 ENST00000037243.4 ENST00000037243.5 ENST00000037243.6 FLC3A GBRL2_HUMAN GEF2 NM_007285 O08765 P60520 Q6FG91 Q9DCP8 Q9UQF7 uc002fen.1 uc002fen.2 uc002fen.3 uc002fen.4 Involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Monomer. Interacts with GABRG2, NSF, GOSR1 and beta- tubulin (By similarity). Interacts with ULK1. Interacts with TP53INP1 and TP53INP2. Interacts with TBC1D25. O75143:ATG13; NbExp=2; IntAct=EBI-720116, EBI-2798775; Q2TAZ0:ATG2A; NbExp=2; IntAct=EBI-720116, EBI-2514077; Q9NT62:ATG3; NbExp=4; IntAct=EBI-720116, EBI-988094; Q9Y4P1:ATG4B; NbExp=5; IntAct=EBI-720116, EBI-712014; O95352:ATG7; NbExp=4; IntAct=EBI-720116, EBI-987834; Q8WXU2:DYX1C1; NbExp=2; IntAct=EBI-720116, EBI-2946907; P00533:EGFR; NbExp=2; IntAct=EBI-720116, EBI-297353; Q9BQS8:FYCO1; NbExp=2; IntAct=EBI-720116, EBI-2869338; O75323:GBAS; NbExp=4; IntAct=EBI-720116, EBI-307133; P40939:HADHA; NbExp=3; IntAct=EBI-720116, EBI-356720; O00410:IPO5; NbExp=4; IntAct=EBI-720116, EBI-356424; Q86V97:KBTBD6; NbExp=2; IntAct=EBI-720116, EBI-2514778; Q8WVZ9:KBTBD7; NbExp=2; IntAct=EBI-720116, EBI-473695; Q14596:NBR1; NbExp=10; IntAct=EBI-720116, EBI-742698; P46934:NEDD4; NbExp=3; IntAct=EBI-720116, EBI-726944; Q8TD19:NEK9; NbExp=4; IntAct=EBI-720116, EBI-1044009; Q9NS23:RASSF1; NbExp=2; IntAct=EBI-720116, EBI-367363; Q8WWW0:RASSF5; NbExp=2; IntAct=EBI-720116, EBI-367390; Q13501:SQSTM1; NbExp=8; IntAct=EBI-720116, EBI-307104; O95210:STBD1; NbExp=3; IntAct=EBI-720116, EBI-2947137; Q13188:STK3; NbExp=2; IntAct=EBI-720116, EBI-992580; Q13043:STK4; NbExp=2; IntAct=EBI-720116, EBI-367376; Q8TC07:TBC1D15; NbExp=2; IntAct=EBI-720116, EBI-1048247; Q9UPU7:TBC1D2B; NbExp=2; IntAct=EBI-720116, EBI-2947180; O15040:TECPR2; NbExp=2; IntAct=EBI-720116, EBI-2946991; Q9GZZ9:UBA5; NbExp=6; IntAct=EBI-720116, EBI-747805; O75385:ULK1; NbExp=3; IntAct=EBI-720116, EBI-908831; Golgi apparatus (By similarity). Cytoplasmic vesicle, autophagosome. Ubiquitous. Expressed at high levels in the brain, heart, prostate, ovary, spleen and skeletal muscle. Expressed at very low levels in lung, thymus and small intestine. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the MAP1 LC3 family. autophagosome assembly Golgi membrane SNARE binding autophagosome membrane mitophagy protein binding intracellular cytoplasm autophagosome Golgi apparatus cytosol intra-Golgi vesicle-mediated transport autophagy cellular response to nitrogen starvation microtubule binding protein transport macroautophagy cytoplasmic vesicle ubiquitin protein ligase binding positive regulation of ATPase activity beta-tubulin binding GABA receptor binding ATPase binding autophagosome maturation negative regulation of proteasomal protein catabolic process  uc002fen.1 uc002fen.2 uc002fen.3 uc002fen.4 
ENST00000037502.11 MYOC ENST00000037502.11 Homo sapiens myocilin (MYOC), mRNA. (from RefSeq NM_000261) B2RD84 ENST00000037502.1 ENST00000037502.10 ENST00000037502.2 ENST00000037502.3 ENST00000037502.4 ENST00000037502.5 ENST00000037502.6 ENST00000037502.7 ENST00000037502.8 ENST00000037502.9 GLC1A MYOC_HUMAN NM_000261 O00620 Q7Z6Q9 Q99972 TIGR uc001ghu.1 uc001ghu.2 uc001ghu.3 uc001ghu.4 uc001ghu.5 MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.323867.1, U85257.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153980, SAMEA2154125 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000037502.11/ ENSP00000037502.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May participate in the obstruction of fluid outflow in the trabecular meshwork. Homodimer. Interacts with OLFM3. Rough endoplasmic reticulum. Secreted. Cell projection, cilium. Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum. Also secreted. Expressed in large amounts in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart and other tissues. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and appeared more intensively than in normal eyes, regardless of the type or clinical severity of glaucoma. Different isoforms may arise by post-translational modifications. Glycosylated. Palmitoylated (By similarity). Defects in MYOC are the cause of primary open angle glaucoma type 1A (GLC1A) [MIM:137750]. Primary open angle glaucoma (POAG) is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Defects in MYOC are a cause of primary congenital glaucoma type 3A (GLC3A) [MIM:231300]. An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early choldhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=MYOC variations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease. Contains 1 olfactomedin-like domain. Sequence=BAA24532.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYOC"; osteoblast differentiation regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion fibronectin binding frizzled binding protein binding extracellular region extracellular space mitochondrion mitochondrial outer membrane mitochondrial inner membrane mitochondrial intermembrane space endoplasmic reticulum rough endoplasmic reticulum Golgi apparatus cilium positive regulation of phosphatidylinositol 3-kinase signaling skeletal muscle hypertrophy membrane myelination in peripheral nervous system positive regulation of cell migration receptor tyrosine kinase binding neuron projection development cytoplasmic vesicle myosin light chain binding node of Ranvier negative regulation of Rho protein signal transduction non-canonical Wnt signaling pathway via JNK cascade ERBB2-ERBB3 signaling pathway cell projection regulation of MAPK cascade clustering of voltage-gated sodium channels metal ion binding regulation of stress fiber assembly positive regulation of stress fiber assembly negative regulation of stress fiber assembly positive regulation of focal adhesion assembly positive regulation of protein kinase B signaling positive regulation of mitochondrial depolarization bone development extracellular exosome positive regulation of substrate adhesion-dependent cell spreading  uc001ghu.1 uc001ghu.2 uc001ghu.3 uc001ghu.4 uc001ghu.5 
ENST00000037869.8 FAM136A ENST00000037869.8 Homo sapiens family with sequence similarity 136 member A (FAM136A), transcript variant 1, mRNA. (from RefSeq NM_032822) ENST00000037869.1 ENST00000037869.2 ENST00000037869.3 ENST00000037869.4 ENST00000037869.5 ENST00000037869.6 ENST00000037869.7 F136A_HUMAN NM_032822 Q96C01 Q96SS3 uc002sgq.1 uc002sgq.2 uc002sgq.3 uc002sgq.4 uc002sgq.5 uc002sgq.6 This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial epithelium of the cristaampullaris. A mutation in this gene has been associated with familial Meniere's disease, a chronic disorder of the inner ear. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.300755.1, SRR5189658.219773.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 25305078; reported by MitoCarta ##RefSeq-Attributes-END## O15116:LSM1; NbExp=1; IntAct=EBI-373319, EBI-347619; Mitochondrion (By similarity). Belongs to the FAM136 family. cytoplasm  uc002sgq.1 uc002sgq.2 uc002sgq.3 uc002sgq.4 uc002sgq.5 uc002sgq.6 
ENST00000038176.8 NSMAF ENST00000038176.8 Homo sapiens neutral sphingomyelinase activation associated factor (NSMAF), transcript variant 1, mRNA. (from RefSeq NM_003580) B4DFB0 E9PCH0 ENST00000038176.1 ENST00000038176.2 ENST00000038176.3 ENST00000038176.4 ENST00000038176.5 ENST00000038176.6 ENST00000038176.7 FAN FAN_HUMAN NM_003580 Q8IW26 Q92636 uc003xtt.1 uc003xtt.2 uc003xtt.3 uc003xtt.4 uc003xtt.5 This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]. Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N- smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE. O95166:GABARAP; NbExp=2; IntAct=EBI-2947053, EBI-712001; Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-2947053, EBI-746969; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92636-1; Sequence=Displayed; Name=2; IsoId=Q92636-2; Sequence=VSP_042036; Note=No experimental confirmation available; Ubiquitous. Contains 1 BEACH domain. Contains 1 GRAM domain. Contains 6 WD repeats. protein binding cytoplasm cytosol ceramide metabolic process signal transduction sphingomyelin phosphodiesterase activator activity positive regulation of apoptotic process positive regulation of catalytic activity positive regulation of ceramide biosynthetic process  uc003xtt.1 uc003xtt.2 uc003xtt.3 uc003xtt.4 uc003xtt.5 
ENST00000039007.5 OTC ENST00000039007.5 Homo sapiens ornithine carbamoyltransferase (OTC), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000531) A8K9P2 D3DWB0 ENST00000039007.1 ENST00000039007.2 ENST00000039007.3 ENST00000039007.4 NM_000531 OTC_HUMAN P00480 Q3KNR1 Q6B0I1 Q9NYJ5 uc004def.1 uc004def.2 uc004def.3 uc004def.4 uc004def.5 uc004def.6 This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.144333.1, SRR5189664.63751.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000039007.5/ ENSP00000039007.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline. Negatively regulated by lysine acetylation. Nitrogen metabolism; urea cycle; L-citrulline from L- ornithine and carbamoyl phosphate: step 1/1. Homotrimer. Mitochondrion matrix. Mainly expressed in liver and intestinal mucosa. Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. OTCD is an X- linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. Belongs to the ATCase/OTCase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OTC"; urea cycle liver development ornithine carbamoyltransferase activity phospholipid binding cytoplasm mitochondrion mitochondrial inner membrane mitochondrial matrix cellular amino acid metabolic process arginine biosynthetic process ornithine metabolic process ornithine catabolic process midgut development cellular amino acid biosynthetic process response to zinc ion amino acid binding transferase activity carboxyl- or carbamoyltransferase activity citrulline biosynthetic process response to nutrient levels response to insulin phosphate ion binding arginine biosynthetic process via ornithine response to drug anion homeostasis protein homotrimerization response to biotin ammonia homeostasis  uc004def.1 uc004def.2 uc004def.3 uc004def.4 uc004def.5 uc004def.6 
ENST00000039989.9 TTC17 ENST00000039989.9 Homo sapiens tetratricopeptide repeat domain 17 (TTC17), transcript variant 1, mRNA. (from RefSeq NM_018259) ENST00000039989.1 ENST00000039989.2 ENST00000039989.3 ENST00000039989.4 ENST00000039989.5 ENST00000039989.6 ENST00000039989.7 ENST00000039989.8 NM_018259 Q96AE7 TTC17_HUMAN uc001mxi.1 uc001mxi.2 uc001mxi.3 uc001mxi.4 uc001mxi.5 Contains 6 TPR repeats. protein binding cytoplasm cytosol cytoskeleton plasma membrane actin cytoskeleton membrane cell projection organization actin filament polymerization cilium organization  uc001mxi.1 uc001mxi.2 uc001mxi.3 uc001mxi.4 uc001mxi.5 
ENST00000040584.6 HOXC8 ENST00000040584.6 Homo sapiens homeobox C8 (HOXC8), mRNA. (from RefSeq NM_022658) A8K4J4 ENST00000040584.1 ENST00000040584.2 ENST00000040584.3 ENST00000040584.4 ENST00000040584.5 HOX3A HXC8_HUMAN NM_022658 O15221 O15362 P31273 uc001ser.1 uc001ser.2 uc001ser.3 uc001ser.4 uc001ser.5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053898.1, AK290959.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000040584.6/ ENSP00000040584.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Interacts with SMAD1 and HOMEZ. Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification microtubule cytoskeleton neuron differentiation sequence-specific DNA binding skeletal system morphogenesis  uc001ser.1 uc001ser.2 uc001ser.3 uc001ser.4 uc001ser.5 
ENST00000040663.8 MRI1 ENST00000040663.8 Homo sapiens methylthioribose-1-phosphate isomerase 1 (MRI1), transcript variant 1, mRNA. (from RefSeq NM_001031727) ENST00000040663.1 ENST00000040663.2 ENST00000040663.3 ENST00000040663.4 ENST00000040663.5 ENST00000040663.6 ENST00000040663.7 MRDI MTNA_HUMAN NM_001031727 Q8NDC9 Q9BV20 UNQ6390/PRO21135 uc002mxe.1 uc002mxe.2 uc002mxe.3 uc002mxe.4 uc002mxe.5 This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]. Catalyzes the interconversion of methylthioribose-1- phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1- P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover. S-methyl-5-thio-alpha-D-ribose 1-phosphate = S-methyl-5-thio-D-ribulose 1-phosphate. Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 1/6. Self; NbExp=3; IntAct=EBI-747381, EBI-747381; Nucleus. Cytoplasm. Cell projection. Note=Primarily nuclear, but cytoplasmic in cancer cells, with enrichment at leading edge of the plasma membrane in late stage tumor cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BV20-1; Sequence=Displayed; Name=2; IsoId=Q9BV20-2; Sequence=VSP_030935; By RhoA activation in cancer cells (at protein level). Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily. fibrillar center nucleus nucleoplasm cytoplasm cytosol cellular amino acid biosynthetic process methionine biosynthetic process isomerase activity L-methionine biosynthetic process from S-adenosylmethionine L-methionine biosynthetic process from methylthioadenosine identical protein binding cell projection cellular metabolic process cellular biosynthetic process S-methyl-5-thioribose-1-phosphate isomerase activity  uc002mxe.1 uc002mxe.2 uc002mxe.3 uc002mxe.4 uc002mxe.5 
ENST00000040738.10 BOD1L1 ENST00000040738.10 Homo sapiens biorientation of chromosomes in cell division 1 like 1 (BOD1L1), mRNA. (from RefSeq NM_148894) BD1L1_HUMAN BOD1L ENST00000040738.1 ENST00000040738.2 ENST00000040738.3 ENST00000040738.4 ENST00000040738.5 ENST00000040738.6 ENST00000040738.7 ENST00000040738.8 ENST00000040738.9 FAM44A KIAA1327 NM_148894 Q6P0M8 Q8NFC6 Q96AL1 Q9H6G0 Q9NTD6 Q9P2L9 uc003gmz.1 uc003gmz.2 uc003gmz.3 Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the BOD1 family. Contains 1 A.T hook DNA-binding domain. Sequence=AAH16987.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15299.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=CAB70705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; spindle pole condensed chromosome outer kinetochore protein phosphatase inhibitor activity nucleoplasm chromosome centrosome spindle microtubule DNA repair cellular response to DNA damage stimulus replication fork processing negative regulation of phosphoprotein phosphatase activity protein phosphatase 2A binding  uc003gmz.1 uc003gmz.2 uc003gmz.3 
ENST00000040877.2 TARBP1 ENST00000040877.2 Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. (from RefSeq NM_005646) ENST00000040877.1 NM_005646 Q13395 Q9H581 TARB1_HUMAN TRM3 TRP185 uc001hwd.1 uc001hwd.2 uc001hwd.3 uc001hwd.4 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U38847.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000040877.2/ ENSP00000040877.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs. In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II. Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA. May act by methylating HIV-1 TAR RNA. Monomer and homodimer. Belongs to the RNA methyltransferase TrmH family. RNA binding nucleus regulation of transcription from RNA polymerase II promoter RNA processing methyltransferase activity RNA methyltransferase activity tRNA (guanine) methyltransferase activity transferase activity tRNA methylation methylation  uc001hwd.1 uc001hwd.2 uc001hwd.3 uc001hwd.4 
ENST00000042381.9 RIPOR1 ENST00000042381.9 Homo sapiens RHO family interacting cell polarization regulator 1 (RIPOR1), transcript variant 1, mRNA. (from RefSeq NM_024519) B4DIM2 ENST00000042381.1 ENST00000042381.2 ENST00000042381.3 ENST00000042381.4 ENST00000042381.5 ENST00000042381.6 ENST00000042381.7 ENST00000042381.8 FA65A_HUMAN FAM65A KIAA1930 NM_024519 Q4G0A4 Q6ZS17 Q7Z5R7 Q8NDA4 Q96J39 Q96PV8 Q9H8D9 uc002eth.1 uc002eth.2 uc002eth.3 uc002eth.4 uc002eth.5 Cytoplasm (By similarity). Note=Localizes to the podocyte major processes and cell body (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6ZS17-1; Sequence=Displayed; Name=2; IsoId=Q6ZS17-2; Sequence=VSP_025903; Name=3; IsoId=Q6ZS17-3; Sequence=VSP_043315, VSP_025903; Note=No experimental confirmation available; Belongs to the FAM65 family. Sequence=BAB14678.1; Type=Erroneous termination; Positions=256; Note=Translated as Glu; Sequence=BAB67823.1; Type=Frameshift; Positions=579; protein binding cytoplasm Golgi apparatus Rho protein signal transduction cellular response to starvation response to wounding vesicle membrane membrane positive regulation of cell migration cell leading edge protein localization to Golgi apparatus negative regulation of Rho protein signal transduction establishment of Golgi localization extracellular exosome 14-3-3 protein binding positive regulation of intracellular protein transport cellular response to chemokine negative regulation of Rho guanyl-nucleotide exchange factor activity  uc002eth.1 uc002eth.2 uc002eth.3 uc002eth.4 uc002eth.5 
ENST00000042931.1 BEST2 ENST00000042931.1 Forms calcium-sensitive chloride channels. Permeable to bicarbonate. (from UniProt Q8NFU1) AF440756 BEST2_HUMAN Q53YQ8 Q8NFU1 Q9NXP0 VMD2L1 uc060ucn.1 Forms calcium-sensitive chloride channels. Permeable to bicarbonate. Cell membrane; Multi-pass membrane protein. Mainly confined to the retinal pigment epithelium and colon. Belongs to the bestrophin family. Sequence=BAA90970.1; Type=Erroneous initiation; Note=Translation N-terminally extended; molecular_function chloride channel activity plasma membrane cilium ion transport chloride transport sensory perception of smell biological_process membrane integral component of membrane chloride channel complex membrane depolarization chloride transmembrane transport  uc060ucn.1 
ENST00000043402.8 RTN4R ENST00000043402.8 Homo sapiens reticulon 4 receptor (RTN4R), mRNA. (from RefSeq NM_023004) D3DX28 ENST00000043402.1 ENST00000043402.2 ENST00000043402.3 ENST00000043402.4 ENST00000043402.5 ENST00000043402.6 ENST00000043402.7 NM_023004 NOGOR Q9BZR6 RTN4R_HUMAN UNQ330/PRO526 uc002zrv.1 uc002zrv.2 uc002zrv.3 uc002zrv.4 uc002zrv.5 This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL834449.1, ERR279866.1216.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000043402.8/ ENSP00000043402.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for RTN4, OMG and MAG. Mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. Acts in conjunction with RTN4 and LIGO1 in regulating neuronal precursor cell motility during cortical development (By similarity). Homomultimer. Interacts with LINGO1. Interacts with KIAA0319L. Q8IZA0:KIAA0319L; NbExp=4; IntAct=EBI-5240240, EBI-5240269; Cell membrane; Lipid-anchor, GPI-anchor. Widespread in the brain but highest levels in the gray matter. Low levels in heart and kidney not expressed in oligodendrocytes (white matter). Belongs to the Nogo receptor family. Contains 8 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. Name=Protein Spotlight; Note=Nerve regrowth: nipped by a no-go - Issue 69 of April 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt069.shtml"; protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane cell surface receptor signaling pathway axonogenesis heparin binding lipid binding cell surface negative regulation of neuron projection development membrane corpus callosum development neuronal signal transduction axon dendrite growth cone negative regulation of axon extension anchored component of membrane anchored component of external side of plasma membrane positive regulation of Rho protein signal transduction chondroitin sulfate binding signaling receptor activity neuregulin receptor activity cell projection neuron projection neuronal cell body dendritic shaft perikaryon positive regulation of GTPase activity axonal growth cone macromolecular complex binding membrane raft negative regulation of axon regeneration negative regulation of axonogenesis extracellular exosome presynapse glutamatergic synapse ganglioside GM1 binding ganglioside GT1b binding  uc002zrv.1 uc002zrv.2 uc002zrv.3 uc002zrv.4 uc002zrv.5 
ENST00000044462.12 PSMA4 ENST00000044462.12 Homo sapiens proteasome 20S subunit alpha 4 (PSMA4), transcript variant 1, mRNA. (from RefSeq NM_002789) D3DW86 ENST00000044462.1 ENST00000044462.10 ENST00000044462.11 ENST00000044462.2 ENST00000044462.3 ENST00000044462.4 ENST00000044462.5 ENST00000044462.6 ENST00000044462.7 ENST00000044462.8 ENST00000044462.9 HC9 NM_002789 P25789 PSA4_HUMAN PSC9 Q53XP2 Q567Q5 Q8TBD1 uc002bdu.1 uc002bdu.2 uc002bdu.3 uc002bdu.4 uc002bdu.5 uc002bdu.6 This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.40060.1, SRR1803615.115885.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000044462.12/ ENSP00000044462.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Cleavage of peptide bonds with very broad specificity. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Interaction with HTLV-1 TAX protein favors NFKB1 activation. P25786:PSMA1; NbExp=3; IntAct=EBI-359310, EBI-359352; P25787:PSMA2; NbExp=6; IntAct=EBI-359310, EBI-603262; P25788:PSMA3; NbExp=4; IntAct=EBI-359310, EBI-348380; O14818:PSMA7; NbExp=6; IntAct=EBI-359310, EBI-603272; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P25789-1; Sequence=Displayed; Name=2; IsoId=P25789-2; Sequence=VSP_043102; Note=No experimental confirmation available; Down-regulated by antioxidants BO-653 and probucol. Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex P-body stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle viral process protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process intracellular membrane-bounded organelle regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation  uc002bdu.1 uc002bdu.2 uc002bdu.3 uc002bdu.4 uc002bdu.5 uc002bdu.6 
ENST00000045083.6 RIPOR3 ENST00000045083.6 Homo sapiens RIPOR family member 3 (RIPOR3), transcript variant 1, mRNA. (from RefSeq NM_080829) C20orf175 ENST00000045083.1 ENST00000045083.2 ENST00000045083.3 ENST00000045083.4 ENST00000045083.5 FA65C_HUMAN FAM65C NM_080829 Q5QPB6 Q96MK2 Q9NQQ2 uc002xvm.1 uc002xvm.2 uc002xvm.3 uc002xvm.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96MK2-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q96MK2-2; Sequence=VSP_026496; Note=No experimental confirmation available; Belongs to the FAM65 family.  uc002xvm.1 uc002xvm.2 uc002xvm.3 uc002xvm.4 
ENST00000045347.11 SPATA7 ENST00000045347.11 May be involved in retinal function. (from UniProt Q9P0W8) CR936777 ENST00000045347.1 ENST00000045347.10 ENST00000045347.2 ENST00000045347.3 ENST00000045347.4 ENST00000045347.5 ENST00000045347.6 ENST00000045347.7 ENST00000045347.8 ENST00000045347.9 HSD3 Q5BKY5 Q8WX30 Q96HF3 Q9H0X0 Q9P0W7 Q9P0W8 SPAT7_HUMAN uc001xwu.1 uc001xwu.2 uc001xwu.3 uc001xwu.4 May be involved in retinal function. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P0W8-1; Sequence=Displayed; Name=2; IsoId=Q9P0W8-2; Sequence=VSP_008341; Note=No experimental confirmation available; Name=3; IsoId=Q9P0W8-3; Sequence=VSP_008342; Defects in SPATA7 are the cause of Leber congenital amaurosis type 3 (LCA3) [MIM:604232]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in SPATA7 are a cause of retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]. ARRP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. microtubule cytoskeleton organization photoreceptor outer segment protein binding nucleoplasm cytoplasm mitochondrion cytosol cytoskeleton axoneme visual perception microtubule cytoskeleton photoreceptor connecting cilium ciliary basal body cell projection photoreceptor cell maintenance response to stimulus protein localization to photoreceptor outer segment protein localization to photoreceptor connecting cilium  uc001xwu.1 uc001xwu.2 uc001xwu.3 uc001xwu.4 
ENST00000046087.7 ZPBP ENST00000046087.7 Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. (from RefSeq NM_007009) A4D253 ENST00000046087.1 ENST00000046087.2 ENST00000046087.3 ENST00000046087.4 ENST00000046087.5 ENST00000046087.6 NM_007009 Q15941 Q75KX9 Q75MI3 Q9BS86 ZPBP1 ZPBP1_HUMAN uc003tou.1 uc003tou.2 uc003tou.3 uc003tou.4 uc003tou.5 ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]. May be implicated in gamete interaction during fertilization. Secreted (Potential). Belongs to the zona pellucida-binding protein Sp38 family. Sequence=AAS07517.1; Type=Erroneous initiation; acrosomal membrane extracellular region nucleus binding of sperm to zona pellucida membrane cytoplasmic vesicle  uc003tou.1 uc003tou.2 uc003tou.3 uc003tou.4 uc003tou.5 
ENST00000046640.9 CTNS ENST00000046640.9 Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 2, mRNA. (from RefSeq NM_004937) CTNS_HUMAN D3DTJ5 ENST00000046640.1 ENST00000046640.2 ENST00000046640.3 ENST00000046640.4 ENST00000046640.5 ENST00000046640.6 ENST00000046640.7 ENST00000046640.8 NM_004937 O60931 Q8IZ01 Q9UNK6 uc002fwb.1 uc002fwb.2 uc002fwb.3 uc002fwb.4 uc002fwb.5 This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. Thought to transport cystine out of lysosomes. Lysosome membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60931-1; Sequence=Displayed; Name=2; IsoId=O60931-2; Sequence=VSP_038377; Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Defects in CTNS are the cause of cystinosis nephropathic type (CTNS) [MIM:219800]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. Defects in CTNS are the cause of cystinosis adult non- nephropathic type (CTNSANN) [MIM:219750]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benigne course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. Defects in CTNS are the cause of cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]. It is a form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis manifests itself first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. Belongs to the cystinosin family. Contains 2 PQ-loop domains. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTNS"; lens development in camera-type eye lysosome lysosomal membrane late endosome vacuolar membrane plasma membrane cellular amino acid metabolic process glutathione metabolic process ion transport brain development long-term memory grooming behavior adult walking behavior visual learning negative regulation of hydrogen peroxide biosynthetic process positive regulation of mitochondrial membrane potential L-cystine transmembrane transporter activity L-cystine transport membrane integral component of membrane melanin biosynthetic process melanosome intracellular membrane-bounded organelle intermediate filament cytoskeleton ATP metabolic process cognition transmembrane transport extracellular exosome negative regulation of reactive oxygen species biosynthetic process early endosome  uc002fwb.1 uc002fwb.2 uc002fwb.3 uc002fwb.4 uc002fwb.5 
ENST00000046794.10 LCP2 ENST00000046794.10 Homo sapiens lymphocyte cytosolic protein 2 (LCP2), mRNA. (from RefSeq NM_005565) ENST00000046794.1 ENST00000046794.2 ENST00000046794.3 ENST00000046794.4 ENST00000046794.5 ENST00000046794.6 ENST00000046794.7 ENST00000046794.8 ENST00000046794.9 LCP2_HUMAN NM_005565 Q13094 Q53XV4 uc003man.1 uc003man.2 uc003man.3 This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC016618.1, SRR1163658.196053.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000046794.10/ ENSP00000046794.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in T-cell antigen receptor mediated signaling. Interacts with SLA. Interacts with CBLB (By similarity). Interacts with the adapter proteins GRB2 and FYB. Interacts with SHB. Interacts with PRAM1. Q8IVH8:MAP4K3; NbExp=5; IntAct=EBI-346946, EBI-1758170; Q99JP0:Map4k3 (xeno); NbExp=2; IntAct=EBI-346946, EBI-5324222; Cytoplasm (Probable). Highly expressed in spleen, thymus and peripheral blood leukocytes. Highly expressed also in T-cell and monocytic cell lines, expressed at lower level in B-cell lines. Not detected in fibroblast or neuroblastoma cell lines. The SH2 domain mediates interaction with SHB. Phosphorylated after T-cell receptor activation by ZAP70, ITK and TXK, which leads to the up-regulation of Th1 preferred cytokine IL-2. SYK-dependent phosphorylation is required for recruitment of PI3K signaling components. Contains 1 SAM (sterile alpha motif) domain. Contains 1 SH2 domain. protein binding cytoplasm cytosol cell-cell junction immune response transmembrane receptor protein tyrosine kinase signaling pathway platelet activation intracellular signal transduction TCR signalosome Fc-epsilon receptor signaling pathway plasma membrane raft mast cell activation positive regulation of protein kinase activity cytokine secretion T cell receptor signaling pathway  uc003man.1 uc003man.2 uc003man.3 
ENST00000052569.10 GOPC ENST00000052569.10 Homo sapiens golgi associated PDZ and coiled-coil motif containing (GOPC), transcript variant 2, mRNA. (from RefSeq NM_001017408) A6NM30 CAL ENST00000052569.1 ENST00000052569.2 ENST00000052569.3 ENST00000052569.4 ENST00000052569.5 ENST00000052569.6 ENST00000052569.7 ENST00000052569.8 ENST00000052569.9 FIG GOPC_HUMAN NM_001017408 Q59FS4 Q969U8 Q9HD26 uc003pxv.1 uc003pxv.2 uc003pxv.3 uc003pxv.4 This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes. Homooligomer. Interacts with FZD5, FZD8, GRID2, BECN1, CSPG5 and CLCN3. May interact with CACNG2 (By similarity). Interacts with STX6, CFTR, ASIC3, GOLGA3, NLGN1 and RHOQ. Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell projection, dendrite (By similarity). Note=Enriched in synaptosomal and postsynaptic densities (PSD) fractions (By similarity). Expressed in cell bodies and dendrites of Purkinje cells (By similarity). Localized at the trans-Golgi network (TGN) of spermatids and the medulla of round spermatides (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HD26-1; Sequence=Displayed; Name=2; IsoId=Q9HD26-2; Sequence=VSP_016062; Name=3; IsoId=Q9HD26-3; Sequence=VSP_016063, VSP_016064; Note=No experimental confirmation available; Ubiquitously expressed. The PDZ domain mediates interactions with FZD5, FZD8, ASIC3, GRID2, CLCN3 (By similarity). Mediates also interaction with CFTR and ADRB1. The coiled-coil region probably mediates association to membranes, targeting to the Golgi, and interactions with GOLGA3, and STX6. May also mediate interaction with RHOQ (By similarity). Note=A chromosomal aberration involving GOPC is found in a glioblastoma multiforme sample. An intra-chromosomal deletion del(6)(q21q21) is responsible for the formation of GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity. Contains 1 PDZ (DHR) domain. Sequence=BAD92622.1; Type=Erroneous initiation; Golgi membrane protein binding cytoplasm lysosomal membrane Golgi apparatus plasma membrane ER to Golgi vesicle-mediated transport Golgi to plasma membrane transport negative regulation of anion channel activity postsynaptic density protein transport membrane cell junction trans-Golgi network transport vesicle dendrite Golgi-associated vesicle membrane macromolecular complex cell projection cytoplasmic sequestering of CFTR protein ion channel binding apical protein localization synapse postsynaptic membrane protein homooligomerization negative regulation of protein localization to cell surface  uc003pxv.1 uc003pxv.2 uc003pxv.3 uc003pxv.4 
ENST00000052754.10 DCN ENST00000052754.10 Homo sapiens decorin (DCN), transcript variant A2, mRNA. (from RefSeq NM_133503) DKFZp686J19238 ENST00000052754.1 ENST00000052754.2 ENST00000052754.3 ENST00000052754.4 ENST00000052754.5 ENST00000052754.6 ENST00000052754.7 ENST00000052754.8 ENST00000052754.9 NM_133503 Q6FH10 Q6FH10_HUMAN hCG_24110 uc001tbu.1 uc001tbu.2 uc001tbu.3 uc001tbu.4 uc001tbu.5 This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]. kidney development placenta development collagen binding glycosaminoglycan binding extracellular region collagen type VI trimer skeletal muscle tissue development aging response to mechanical stimulus positive regulation of autophagy peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan extracellular matrix structural constituent conferring compression resistance extracellular matrix response to lipopolysaccharide wound healing protein N-terminus binding extracellular matrix binding  uc001tbu.1 uc001tbu.2 uc001tbu.3 uc001tbu.4 uc001tbu.5 
ENST00000053243.6 TNFRSF17 ENST00000053243.6 Homo sapiens TNF receptor superfamily member 17 (TNFRSF17), mRNA. (from RefSeq NM_001192) BCM BCMA ENST00000053243.1 ENST00000053243.2 ENST00000053243.3 ENST00000053243.4 ENST00000053243.5 NM_001192 Q02223 TNR17_HUMAN uc002dbv.1 uc002dbv.2 uc002dbv.3 uc002dbv.4 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.304475.1, BC058291.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000053243.6/ ENSP00000053243.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK. Associates with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Cell membrane; Single-pass type III membrane protein. Endomembrane system; Single-pass type III membrane protein. Note=Perinuclear Golgi-like structures. Expressed in mature B-cells, but not in T- cells or monocytes. Note=A chromosomal aberration involving TNFRSF17 is found in a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(4;16)(q26;p13) with IL2. Contains 1 TNFR-Cys repeat. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf17/"; adaptive immune response lymphocyte homeostasis immune system process plasma membrane signal transduction multicellular organism development endomembrane system membrane integral component of membrane tumor necrosis factor-mediated signaling pathway signaling receptor activity  uc002dbv.1 uc002dbv.2 uc002dbv.3 uc002dbv.4 
ENST00000053468.4 MRPS10 ENST00000053468.4 Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_018141) B2RE89 ENST00000053468.1 ENST00000053468.2 ENST00000053468.3 MSTP040 NM_018141 P82664 Q9H3E5 Q9NVR3 RT10_HUMAN uc003osa.1 uc003osa.2 uc003osa.3 uc003osa.4 uc003osa.5 uc003osa.6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.110737.1, SRR1803613.110112.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000053468.4/ ENSP00000053468.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Mitochondrion. Belongs to the ribosomal protein S10P family. molecular_function mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome biological_process mitochondrial translational elongation mitochondrial translational termination  uc003osa.1 uc003osa.2 uc003osa.3 uc003osa.4 uc003osa.5 uc003osa.6 
ENST00000053867.8 GRN ENST00000053867.8 Homo sapiens granulin precursor (GRN), mRNA. (from RefSeq NM_002087) D3DX55 ENST00000053867.1 ENST00000053867.2 ENST00000053867.3 ENST00000053867.4 ENST00000053867.5 ENST00000053867.6 ENST00000053867.7 GRN_HUMAN NM_002087 P23781 P23782 P23783 P23784 P28799 Q53Y88 Q540U8 Q9BWE7 Q9UCH0 uc002igp.1 uc002igp.2 uc002igp.3 uc002igp.4 Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X62320.1, AK000607.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000053867.8/ ENSP00000053867.2 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein regulatory uORF :: PMID: 25056957 ##RefSeq-Attributes-END## Granulins have possible cytokine-like activity. They may play a role in inflammation, wound repair, and tissue remodeling. Granulin-4 promotes proliferation of the epithelial cell line A431 in culture while granulin-3 acts as an antagonist to granulin-4, inhibiting the growth. O00555:CACNA1A; NbExp=2; IntAct=EBI-747754, EBI-766279; Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P28799-1; Sequence=Displayed; Name=2; IsoId=P28799-2; Sequence=VSP_001837; In myelogenous leukemic cell lines of promonocytic, promyelocytic, and proerythroid lineage, in fibroblasts, and very strongly in epithelial cell lines. Present in inflammatory cells and bone marrow. Highest levels in kidney. Granulins are disulfide bridged. Defects in GRN are the cause of ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]; also known as tau- negative frontotemporal dementia linked to chromosome 17. Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. Defects in GRN are the cause of neuronal ceroid lipofuscinosis type 11 (CLN11) [MIM:614706]. A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. Belongs to the granulin family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GRNID40757ch17q21.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GRN"; astrocyte activation involved in immune response microglial cell activation involved in immune response RNA binding cytokine activity protein binding extracellular region extracellular space lysosome lysosomal membrane endosome late endosome endoplasmic reticulum Golgi apparatus trans-Golgi network plasma membrane lysosome organization lysosomal transport lysosomal lumen acidification signal transduction growth factor activity positive regulation of endothelial cell migration membrane positive regulation of cell migration azurophil granule lumen neutrophil degranulation negative regulation of neuron apoptotic process positive regulation of neuron apoptotic process positive regulation of angiogenesis positive regulation of axon regeneration positive regulation of epithelial cell proliferation protein stabilization chaperone binding negative regulation of respiratory burst involved in inflammatory response extracellular exosome positive regulation of defense response to bacterium negative regulation of neutrophil activation positive regulation of protein folding negative regulation of microglial cell activation positive regulation of aspartic-type peptidase activity positive regulation of lysosome organization  uc002igp.1 uc002igp.2 uc002igp.3 uc002igp.4 
ENST00000054650.9 THAP3 ENST00000054650.9 Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. (from UniProt Q8WTV1) ENST00000054650.1 ENST00000054650.2 ENST00000054650.3 ENST00000054650.4 ENST00000054650.5 ENST00000054650.6 ENST00000054650.7 ENST00000054650.8 NM_001394499 Q569K1 Q5TH66 Q5TH67 Q8N8T6 Q8WTV1 Q9BSC7 Q9Y3H2 Q9Y3H3 THAP3_HUMAN uc001aoc.1 uc001aoc.2 uc001aoc.3 uc001aoc.4 uc001aoc.5 Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that contains at least, either THAP1 or THAP3, HCFC1 and OGT. Interacts directly with OGT and HCFC1 (via its HBM). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8WTV1-1; Sequence=Displayed; Name=2; IsoId=Q8WTV1-3; Sequence=VSP_015136; Note=Gene prediction based on EST data; Name=3; IsoId=Q8WTV1-4; Sequence=VSP_015137, VSP_015138, VSP_015139; Note=No experimental confirmation available; Highly expressed in heart, skeletal muscle and placenta. Weaker expression in brain, kidney and liver. Contains 1 THAP-type zinc finger. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding protein binding regulation of transcription from RNA polymerase II promoter metal ion binding  uc001aoc.1 uc001aoc.2 uc001aoc.3 uc001aoc.4 uc001aoc.5 
ENST00000054666.11 VAMP3 ENST00000054666.11 Homo sapiens vesicle associated membrane protein 3 (VAMP3), mRNA. (from RefSeq NM_004781) ENST00000054666.1 ENST00000054666.10 ENST00000054666.2 ENST00000054666.3 ENST00000054666.4 ENST00000054666.5 ENST00000054666.6 ENST00000054666.7 ENST00000054666.8 ENST00000054666.9 NM_004781 Q6FGG2 Q6FGG2_HUMAN hCG_21813 uc001aol.1 uc001aol.2 uc001aol.3 uc001aol.4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.201507.1, SRR3476690.404792.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000054666.11/ ENSP00000054666.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Contains 1 v-SNARE coiled-coil homology domain. SNARE binding positive regulation of receptor recycling cytosol plasma membrane cell surface membrane integral component of membrane vesicle-mediated transport apical plasma membrane syntaxin-1 binding calcium ion regulated exocytosis secretory granule integral component of synaptic vesicle membrane clathrin-coated vesicle membrane SNARE complex cytoplasmic vesicle substrate adhesion-dependent cell spreading SNARE complex assembly Golgi to plasma membrane protein transport intracellular organelle intracellular membrane-bounded organelle phagocytic vesicle perinuclear region of cytoplasm recycling endosome macromolecular complex assembly cellular response to interferon-gamma  uc001aol.1 uc001aol.2 uc001aol.3 uc001aol.4 
ENST00000054668.5 UTS2 ENST00000054668.5 Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA. (from RefSeq NM_021995) ENST00000054668.1 ENST00000054668.2 ENST00000054668.3 ENST00000054668.4 NM_021995 O95399 Q5H8X7 Q6UXF6 Q9UKP7 UNQ525/PRO1068 UTS2_HUMAN uc001aos.1 uc001aos.2 uc001aos.3 uc001aos.4 This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Highly potent vasoconstrictor. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95399-1; Sequence=Displayed; Name=2; IsoId=O95399-2; Sequence=VSP_013638; Note=No experimental confirmation available; Brain specific. Belongs to the urotensin-2 family. receptor binding hormone activity extracellular region extracellular space muscle contraction G-protein coupled receptor signaling pathway chemical synaptic transmission regulation of blood pressure regulation of blood vessel diameter  uc001aos.1 uc001aos.2 uc001aos.3 uc001aos.4 
ENST00000054950.4 RCN1 ENST00000054950.4 Homo sapiens reticulocalbin 1 (RCN1), mRNA. (from RefSeq NM_002901) ENST00000054950.1 ENST00000054950.2 ENST00000054950.3 NM_002901 V9HW95 uc010reb.1 uc010reb.2 uc010reb.3 uc010reb.4 Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK129791.1, FJ224346.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000054950.4/ ENSP00000054950.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc010reb.1 uc010reb.2 uc010reb.3 uc010reb.4 
ENST00000055077.8 RFC2 ENST00000055077.8 Homo sapiens replication factor C subunit 2 (RFC2), transcript variant 1, mRNA. (from RefSeq NM_181471) B5BU07 D3DXG3 ENST00000055077.1 ENST00000055077.2 ENST00000055077.3 ENST00000055077.4 ENST00000055077.5 ENST00000055077.6 ENST00000055077.7 NM_181471 P32846 P35250 Q9BU93 RFC2_HUMAN uc003uaj.1 uc003uaj.2 uc003uaj.3 uc003uaj.4 uc003uaj.5 uc003uaj.6 This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity). Heterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17. The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by PCNA. RFC2 also interacts with PRKAR1A; the complex may be involved in cell survival. P10644:PRKAR1A; NbExp=7; IntAct=EBI-476409, EBI-476431; P35251:RFC1; NbExp=4; IntAct=EBI-476409, EBI-476616; P35249:RFC4; NbExp=8; IntAct=EBI-476409, EBI-476655; Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35250-1; Sequence=Displayed; Name=2; IsoId=P35250-2; Sequence=VSP_005660; Note=No experimental confirmation available; Note=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Belongs to the activator 1 small subunits family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rfc2/"; nucleotide binding DNA binding protein binding ATP binding nucleus nucleoplasm DNA replication factor C complex DNA replication DNA-dependent DNA replication transcription-coupled nucleotide-excision repair nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling enzyme binding translesion synthesis Ctf18 RFC-like complex telomere maintenance via semi-conservative replication DNA duplex unwinding nucleotide-excision repair, DNA incision error-prone translesion synthesis DNA damage response, detection of DNA damage error-free translesion synthesis positive regulation of DNA-directed DNA polymerase activity regulation of signal transduction by p53 class mediator DNA clamp loader activity single-stranded DNA-dependent ATP-dependent DNA helicase activity  uc003uaj.1 uc003uaj.2 uc003uaj.3 uc003uaj.4 uc003uaj.5 uc003uaj.6 
ENST00000055335.11 PPP1R3F ENST00000055335.11 Homo sapiens protein phosphatase 1 regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA. (from RefSeq NM_033215) B3KPW2 ENST00000055335.1 ENST00000055335.10 ENST00000055335.2 ENST00000055335.3 ENST00000055335.4 ENST00000055335.5 ENST00000055335.6 ENST00000055335.7 ENST00000055335.8 ENST00000055335.9 NM_033215 PPR3F_HUMAN Q6ZSY5 uc004dnh.1 uc004dnh.2 uc004dnh.3 uc004dnh.4 This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. Glycogen-targeting subunit for protein phosphatase 1 (PP1). Membrane; Single-pass membrane protein (By similarity). Expressed in brain, skeletal muscle and heart. Contains 1 CBM21 (carbohydrate binding type-21) domain. Sequence=BAG51824.1; Type=Erroneous initiation; regulation of glycogen biosynthetic process membrane integral component of membrane protein phosphatase binding regulation of glycogen (starch) synthase activity glycogen binding  uc004dnh.1 uc004dnh.2 uc004dnh.3 uc004dnh.4 
ENST00000055682.12 NEXMIF ENST00000055682.12 Homo sapiens neurite extension and migration factor (NEXMIF), mRNA. (from RefSeq NM_001008537) A7YY87 ENST00000055682.1 ENST00000055682.10 ENST00000055682.11 ENST00000055682.2 ENST00000055682.3 ENST00000055682.4 ENST00000055682.5 ENST00000055682.6 ENST00000055682.7 ENST00000055682.8 ENST00000055682.9 K2022_HUMAN KIAA2022 NM_001008537 Q5JUX9 Q5QGS0 Q8IVE9 uc004eby.1 uc004eby.2 uc004eby.3 uc004eby.4 uc004eby.5 uc004eby.6 An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY563507.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152798, SAMEA2155984 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000055682.12/ ENSP00000055682.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent. Note=A chromosomal aberration involving KIAA2022 is found in 2 patients with severe mental retardation (MR). Pericentric inversion inv(X)(p22.3;q13.2). The Xq13 breakpoint lies within a predicted intron of KIAA2022 gene. KIAA2022 protein is no longer expressed in these patients lymphocytes. Sequence=BAC23118.1; Type=Erroneous initiation; negative regulation of cell-matrix adhesion nucleus cytoplasm multicellular organism development nervous system development negative regulation of cell adhesion mediated by integrin negative regulation of cell-cell adhesion mediated by cadherin negative regulation of neuron migration  uc004eby.1 uc004eby.2 uc004eby.3 uc004eby.4 uc004eby.5 uc004eby.6 
ENST00000056217.10 ARHGEF5 ENST00000056217.10 Homo sapiens Rho guanine nucleotide exchange factor 5 (ARHGEF5), mRNA. (from RefSeq NM_005435) A6NNJ2 ARHG5_HUMAN ENST00000056217.1 ENST00000056217.2 ENST00000056217.3 ENST00000056217.4 ENST00000056217.5 ENST00000056217.6 ENST00000056217.7 ENST00000056217.8 ENST00000056217.9 NM_005435 Q12774 Q6ZML7 TIM uc003wel.1 uc003wel.2 uc003wel.3 uc003wel.4 uc003wel.5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK160365.1, BC136661.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000056217.10/ ENSP00000056217.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12774-1; Sequence=Displayed; Name=2; IsoId=Q12774-2; Sequence=VSP_035175; Mainly expressed in kidney, liver, pancreas, lung and placenta. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain. Sequence=BAD18708.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; podosome myeloid dendritic cell chemotaxis guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity protein binding GTP binding nucleus nucleoplasm cytoplasm cytosol plasma membrane G-protein coupled receptor signaling pathway lipid binding actin cytoskeleton organization cell junction regulation of actin cytoskeleton organization regulation of Rho protein signal transduction intracellular signal transduction cell projection positive regulation of apoptotic process regulation of GTPase activity positive regulation of JUN kinase activity positive regulation of GTPase activity regulation of small GTPase mediated signal transduction positive regulation of sequence-specific DNA binding transcription factor activity regulation of cytoskeleton organization positive regulation of stress fiber assembly positive regulation of podosome assembly cell periphery positive regulation of protein import regulation of ERK1 and ERK2 cascade  uc003wel.1 uc003wel.2 uc003wel.3 uc003wel.4 uc003wel.5 
ENST00000056233.4 NFE2L3 ENST00000056233.4 Homo sapiens nuclear factor, erythroid 2 like 3 (NFE2L3), mRNA. (from RefSeq NM_004289) ENST00000056233.1 ENST00000056233.2 ENST00000056233.3 NF2L3_HUMAN NM_004289 NRF3 Q6NUS0 Q7Z498 Q86UJ4 Q86VR5 Q9UQA4 Q9Y4A8 uc003sxq.1 uc003sxq.2 uc003sxq.3 uc003sxq.4 uc003sxq.5 This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC068455.1, AF134891.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000056233.4/ ENSP00000056233.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Activates erythroid-specific, globin gene expression. Heterodimer with MAFG, MAFK and other small MAF proteins that binds to the MAF recognition elements (MARE). Nucleus (By similarity). Highly expressed in human placenta and also in B-cell and monocyte cell lines. Low expression in heart, brain, lung, skeletal muscle, kidney and pancreas. Belongs to the bZIP family. CNC subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=AAP22344.1; Type=Erroneous gene model prediction; Sequence=BAA76288.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter positive regulation of transcription, DNA-templated  uc003sxq.1 uc003sxq.2 uc003sxq.3 uc003sxq.4 uc003sxq.5 
ENST00000057513.8 TNIP3 ENST00000057513.8 Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 1, mRNA. (from RefSeq NM_024873) A1A574 A8K2Z4 ABIN3 ENST00000057513.1 ENST00000057513.2 ENST00000057513.3 ENST00000057513.4 ENST00000057513.5 ENST00000057513.6 ENST00000057513.7 LIND NM_024873 Q96KP6 Q96PQ3 Q9H780 TNIP3_HUMAN uc010ing.1 uc010ing.2 uc010ing.3 uc010ing.4 uc010ing.5 Binds to zinc finger protein TNFAIP3 and inhibits NF- kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13- acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding. Interacts with TNFAIP3. Interacts with polyubiquitin. Highly expressed in lung, lymph node, thymus and fetal liver. Expressed at lower levels in bone marrow, brain, kidney, spleen, leukocytes and tonsils. Could be detected in heart, salivary gland, adrenal gland, pancreas, ovary and fetal brain. High levels detected in liver, colon, small intestine, muscle, stomach, testis, placenta, thyroid, uterus, prostate, skin and PBL. By Listeria infection. Expression is slightly down- regulated by dexamethasone and slightly up-regulated by IL-10. Strongly induced mRNA and protein expression by lipopolysaccharide. Sequence=BAB15018.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15018.1; Type=Frameshift; Positions=272; Sequence=CAC85929.1; Type=Frameshift; Positions=272; MyD88-independent toll-like receptor signaling pathway protein binding cytosol inflammatory response protein deubiquitination polyubiquitin binding toll-like receptor 4 signaling pathway negative regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of transcription from RNA polymerase II promoter cellular response to lipopolysaccharide  uc010ing.1 uc010ing.2 uc010ing.3 uc010ing.4 uc010ing.5 
ENST00000060969.6 SIKE1 ENST00000060969.6 Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 4, non-coding RNA. (from RefSeq NR_049742) ENST00000060969.1 ENST00000060969.2 ENST00000060969.3 ENST00000060969.4 ENST00000060969.5 NR_049742 Q5TEZ7 Q5TEZ9 Q68DZ4 Q9BRV8 Q9H778 SIKE SIKE1_HUMAN uc001efo.1 uc001efo.2 uc001efo.3 uc001efo.4 uc001efo.5 uc001efo.6 SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]. Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3-mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and DDX58/RIG-I. Does not inhibit NF-kappa-B activation pathways. Interacts with IKBKE and TBK1 via its coiled coil region. Interaction with TBK1 is disrupted upon viral infection or TLR3 stimulation. Q9Y228:TRAF3IP3; NbExp=2; IntAct=EBI-1773646, EBI-765817; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRV8-1; Sequence=Displayed; Name=2; IsoId=Q9BRV8-2; Sequence=VSP_027543; Note=No experimental confirmation available; Widely expressed. Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and leukocytes. Present in all cell lines tested (at protein level). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the SIKE family. Sequence=CAI18824.1; Type=Erroneous gene model prediction; protein binding cytoplasm cytosol Rho GTPase binding protein kinase binding  uc001efo.1 uc001efo.2 uc001efo.3 uc001efo.4 uc001efo.5 uc001efo.6 
ENST00000061240.7 TLL1 ENST00000061240.7 Homo sapiens tolloid like 1 (TLL1), transcript variant 1, mRNA. (from RefSeq NM_012464) B2RMU2 ENST00000061240.1 ENST00000061240.2 ENST00000061240.3 ENST00000061240.4 ENST00000061240.5 ENST00000061240.6 NM_012464 O43897 Q96AN3 Q9NQS4 TLL TLL1_HUMAN uc003irh.1 uc003irh.2 uc003irh.3 uc003irh.4 This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis. Binds 1 zinc ion per subunit (By similarity). Secreted (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43897-1; Sequence=Displayed; Name=2; IsoId=O43897-2; Sequence=VSP_017197, VSP_017198; Note=No experimental confirmation available; Defects in TLL1 are the cause of atrial septal defect type 6 (ASD6) [MIM:613087]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Belongs to the peptidase M12A family. Contains 5 CUB domains. Contains 2 EGF-like domains. skeletal system development metalloendopeptidase activity calcium ion binding extracellular region proteolysis multicellular organism development peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly cell differentiation metal ion binding  uc003irh.1 uc003irh.2 uc003irh.3 uc003irh.4 
ENST00000064571.3 CBLN4 ENST00000064571.3 Homo sapiens cerebellin 4 precursor (CBLN4), mRNA. (from RefSeq NM_080617) CBLN4_HUMAN CBLNL1 ENST00000064571.1 ENST00000064571.2 NM_080617 Q9NTU7 UNQ718/PRO1382 uc002xxa.1 uc002xxa.2 uc002xxa.3 uc002xxa.4 uc002xxa.5 uc002xxa.6 This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]. ##Evidence-Data-START## Transcript exon combination :: BC050026.1, SRR1803617.233939.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000064571.3/ ENSP00000064571.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in synaptic functions in the CNS. Can enable ER export and secretion of CBLN3 (By similarity). Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers. May interact with CBLN1, CBLN2 and CBLN3 (By similarity). Secreted (By similarity). Cell junction, synapse (By similarity). Contains 1 C1q domain. extracellular region extracellular space protein secretion cell junction synapse  uc002xxa.1 uc002xxa.2 uc002xxa.3 uc002xxa.4 uc002xxa.5 uc002xxa.6 
ENST00000064724.8 CLDN11 ENST00000064724.8 Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. (from RefSeq NM_005602) B2R7C1 CLD11_HUMAN D3DNQ5 ENST00000064724.1 ENST00000064724.2 ENST00000064724.3 ENST00000064724.4 ENST00000064724.5 ENST00000064724.6 ENST00000064724.7 NM_005602 O75508 OSP OTM Q5U0P3 uc003fgx.1 uc003fgx.2 uc003fgx.3 uc003fgx.4 uc003fgx.5 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity (By similarity). Interacts with tetraspanin-3/TSPAN3 (By similarity). Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. Belongs to the claudin family. structural molecule activity protein binding plasma membrane bicellular tight junction membrane integral component of membrane calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules cell junction identical protein binding  uc003fgx.1 uc003fgx.2 uc003fgx.3 uc003fgx.4 uc003fgx.5 
ENST00000064778.8 FAM168A ENST00000064778.8 Homo sapiens family with sequence similarity 168 member A (FAM168A), transcript variant 1, mRNA. (from RefSeq NM_001286050) A2ICY2 A2ID81 ENST00000064778.1 ENST00000064778.2 ENST00000064778.3 ENST00000064778.4 ENST00000064778.5 ENST00000064778.6 ENST00000064778.7 F168A_HUMAN KIAA0280 NM_001286050 Q86UG2 Q92567 TCRP1 uc001otz.1 uc001otz.2 uc001otz.3 May interact with FAM168B. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92567-1; Sequence=Displayed; Name=2; IsoId=Q92567-2; Sequence=VSP_010095; Name=3; IsoId=Q92567-3; Sequence=VSP_010095, VSP_034630; Belongs to the FAM168 protein family. Sequence=BAA13408.1; Type=Erroneous initiation; protein binding positive regulation of base-excision repair  uc001otz.1 uc001otz.2 uc001otz.3 
ENST00000064780.7 RELT ENST00000064780.7 Homo sapiens RELT TNF receptor (RELT), transcript variant 2, mRNA. (from RefSeq NM_152222) ENST00000064780.1 ENST00000064780.2 ENST00000064780.3 ENST00000064780.4 ENST00000064780.5 ENST00000064780.6 NM_152222 Q86V34 Q969Z4 Q96JU1 Q9BUX7 TNFRSF19L TR19L_HUMAN uc001otv.1 uc001otv.2 uc001otv.3 uc001otv.4 uc001otv.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. Mediates activation of NF-kappa-B. May play a role in T- cell activation. Associates with TRAF1. Interacts with RELL1, RELL2 and OXSR1. Cell membrane; Single-pass type I membrane protein. Cytoplasm. Highest levels are in spleen, lymph node, thymus, peripheral blood leukocytes, bone marrow and fetal liver. Very low levels in skeletal muscle, testis and colon. Not detected in brain, kidney and pancreas. Phosphorylated in vitro by OXSR1. Belongs to the RELT family. Contains 1 TNFR-Cys repeat. Sequence=BAB84954.1; Type=Frameshift; Positions=Several; protein binding nucleus cytoplasm plasma membrane apoptotic process membrane integral component of membrane perinuclear region of cytoplasm  uc001otv.1 uc001otv.2 uc001otv.3 uc001otv.4 uc001otv.5 
ENST00000066544.8 CDC27 ENST00000066544.8 Homo sapiens cell division cycle 27 (CDC27), transcript variant 10, non-coding RNA. (from RefSeq NR_148340) ANAPC3 CDC27_HUMAN D0S1430E D17S978E ENST00000066544.1 ENST00000066544.2 ENST00000066544.3 ENST00000066544.4 ENST00000066544.5 ENST00000066544.6 ENST00000066544.7 NR_148340 P30260 Q16349 Q96F35 uc002ild.1 uc002ild.2 uc002ild.3 uc002ild.4 uc002ild.5 uc002ild.6 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.250251.1 [ECO:0000332] ##Evidence-Data-END## Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Protein modification; protein ubiquitination. The APC/C is composed of at least 12 subunits. Interacts with RB. Interacts with FAM168B/MANI (By similarity). Q12834:CDC20; NbExp=6; IntAct=EBI-994813, EBI-367462; P12830:CDH1; NbExp=2; IntAct=EBI-994813, EBI-727477; Q9UKT4:FBXO5; NbExp=2; IntAct=EBI-994813, EBI-852298; Q9UM11:FZR1; NbExp=8; IntAct=EBI-994813, EBI-724997; Q9UI95:MAD2L2; NbExp=2; IntAct=EBI-994813, EBI-77889; P16333:NCK1; NbExp=3; IntAct=EBI-994813, EBI-389883; P51955:NEK2; NbExp=2; IntAct=EBI-994813, EBI-633182; P60484:PTEN; NbExp=7; IntAct=EBI-994813, EBI-696162; Nucleus. Phosphorylated. Phosphorylation on Ser-426 and Thr-446 occurs specifically during mitosis. Belongs to the APC3/CDC27 family. Contains 9 TPR repeats. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc27/"; protein binding nucleus nucleoplasm anaphase-promoting complex cytoplasm centrosome cytosol ubiquitin-dependent protein catabolic process metaphase/anaphase transition of mitotic cell cycle protein ubiquitination protein phosphatase binding anaphase-promoting complex-dependent catabolic process protein K11-linked ubiquitination regulation of mitotic cell cycle phase transition spindle microtubule  uc002ild.1 uc002ild.2 uc002ild.3 uc002ild.4 uc002ild.5 uc002ild.6 
ENST00000070846.11 PKP2 ENST00000070846.11 Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. (from RefSeq NM_004572) A0AV37 D3DUW9 ENST00000070846.1 ENST00000070846.10 ENST00000070846.2 ENST00000070846.3 ENST00000070846.4 ENST00000070846.5 ENST00000070846.6 ENST00000070846.7 ENST00000070846.8 ENST00000070846.9 NM_004572 PKP2_HUMAN Q4VC01 Q99959 Q99960 uc001rlj.1 uc001rlj.2 uc001rlj.3 uc001rlj.4 uc001rlj.5 uc001rlj.6 This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]. May play a role in junctional plaques. Interacts with DSC2. Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=B; IsoId=Q99959-1; Sequence=Displayed; Name=1; Synonyms=A; IsoId=Q99959-2; Sequence=VSP_006736; Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the desmosomes of the basal cell layer and seems to be absent from suprabasal strata. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9 (ARVD9) [MIM:609040]; also known as arrhythmogenic right ventricular cardiomyopathy 9 (ARVC9). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the beta-catenin family. Contains 8 ARM repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKP2"; cornified envelope desmosome assembly protein kinase C binding protein binding nucleus nucleoplasm cytoplasm intermediate filament plasma membrane cell-cell junction adherens junction cell-cell adherens junction cell-cell junction assembly cell adhesion heart development positive regulation of sodium ion transport intercalated disc integral component of membrane sodium channel regulator activity intermediate filament binding cell junction desmosome keratinization ion channel binding intermediate filament bundle assembly alpha-catenin binding cadherin binding maintenance of animal organ identity ventricular cardiac muscle tissue morphogenesis binding, bridging cornification protein localization to plasma membrane cardiac muscle cell action potential involved in contraction ventricular cardiac muscle cell action potential cell-cell signaling involved in cardiac conduction cell communication by electrical coupling involved in cardiac conduction bundle of His cell-Purkinje myocyte adhesion involved in cell communication cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication regulation of heart rate by cardiac conduction cell-cell adhesion regulation of ventricular cardiac muscle cell action potential messenger ribonucleoprotein complex  uc001rlj.1 uc001rlj.2 uc001rlj.3 uc001rlj.4 uc001rlj.5 uc001rlj.6 
ENST00000072516.7 IL1RAP ENST00000072516.7 Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 4, mRNA. (from RefSeq NM_001167929) B1NLD0 C3orf13 D3DNW0 ENST00000072516.1 ENST00000072516.2 ENST00000072516.3 ENST00000072516.4 ENST00000072516.5 ENST00000072516.6 IL1AP_HUMAN IL1R3 NM_001167929 O14915 Q86WJ7 Q9NPH3 uc003fso.1 uc003fso.2 This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]. Coreceptor with IL1R1. Associates with IL1R1 bound to IL1B to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Recruits TOLLIP to the signaling complex. Does not bind to interleukin-1 alone; binding of IL1RN to IL1R1, prevents its association with IL1R1 to form a signaling complex. The cellular response is modulated through a non-signaling association with the membrane IL1R2 decoy receptor. Secreted forms (isoforms 2 and 3) associate with secreted ligand-bound IL1R2 and increase the affinity of secreted IL1R2 for IL1B; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors. The interleukin-1 receptor complex is a heterodimer of IL1R1 and IL1RAP. Associates with IL1R2 to form a non-signaling interleukin-1 receptor complex. Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Membrane-bound IL-1RAcP, mIL-1RAcP; IsoId=Q9NPH3-1; Sequence=Displayed; Name=2; Synonyms=Soluble IL-1RAcP, sIL-1RAcP; IsoId=Q9NPH3-2; Sequence=VSP_008050, VSP_008051; Name=3; Synonyms=Soluble IL-1RAcP-beta, sIL-1RAcP-beta; IsoId=Q9NPH3-3; Sequence=VSP_008052; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=4; Synonyms=AcPb, mIL-1RAcP687; IsoId=Q9NPH3-5; Sequence=VSP_041256; Detected in liver, skin, placenta, thymus and lung. Isoform 1 is down-regulated by phorbol ester treatment. Isoform 2 is induced by phorbol ester treatment. Belongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain. interleukin-33 receptor activity immune system process interleukin-1 receptor activity interleukin-1 receptor binding extracellular region plasma membrane integral component of plasma membrane inflammatory response immune response signal transduction membrane integral component of membrane cytokine-mediated signaling pathway positive regulation of interleukin-13 production positive regulation of interleukin-5 production interleukin-33-mediated signaling pathway interleukin-2 biosynthetic process innate immune response positive regulation of NF-kappaB transcription factor activity positive regulation of synapse assembly macromolecular complex assembly interleukin-1-mediated signaling pathway interleukin-4 secretion glutamatergic synapse trans-synaptic signaling by trans-synaptic complex synaptic membrane adhesion regulation of presynapse assembly positive regulation of interleukin-6 secretion  uc003fso.1 uc003fso.2 
ENST00000072644.7 YIPF1 ENST00000072644.7 Homo sapiens Yip1 domain family member 1 (YIPF1), transcript variant 2, non-coding RNA. (from RefSeq NR_036639) B2RCM7 D3DQ40 ENST00000072644.1 ENST00000072644.2 ENST00000072644.3 ENST00000072644.4 ENST00000072644.5 ENST00000072644.6 NR_036639 Q9NWJ1 Q9Y548 YIPF1_HUMAN uc001cvu.1 uc001cvu.2 uc001cvu.3 uc001cvu.4 uc001cvu.5 uc001cvu.6 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y548-1; Sequence=Displayed; Name=2; IsoId=Q9Y548-2; Sequence=VSP_019437; Belongs to the YIP1 family. Sequence=AAH09674.1; Type=Erroneous initiation; Golgi trans cisterna protein binding endosome Golgi apparatus Golgi medial cisterna trans-Golgi network membrane integral component of membrane vesicle-mediated transport Rab GTPase binding transport vesicle late endosome membrane  uc001cvu.1 uc001cvu.2 uc001cvu.3 uc001cvu.4 uc001cvu.5 uc001cvu.6 
ENST00000072869.9 ADCK2 ENST00000072869.9 Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. (from RefSeq NM_052853) AARF ADCK2_HUMAN ENST00000072869.1 ENST00000072869.2 ENST00000072869.3 ENST00000072869.4 ENST00000072869.5 ENST00000072869.6 ENST00000072869.7 ENST00000072869.8 NM_052853 Q7Z695 Q96CN6 Q9Y6T5 uc003vvy.1 uc003vvy.2 uc003vvy.3 The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). Membrane; Single-pass membrane protein (Potential). Belongs to the protein kinase superfamily. ADCK protein kinase family. Contains 1 protein kinase domain. Sequence=AAH14107.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; nucleotide binding protein serine/threonine kinase activity ATP binding protein phosphorylation membrane integral component of membrane kinase activity phosphorylation transferase activity  uc003vvy.1 uc003vvy.2 uc003vvy.3 
ENST00000075120.12 SLC2A3 ENST00000075120.12 Homo sapiens solute carrier family 2 member 3 (SLC2A3), mRNA. (from RefSeq NM_006931) B2R606 D3DUU6 ENST00000075120.1 ENST00000075120.10 ENST00000075120.11 ENST00000075120.2 ENST00000075120.3 ENST00000075120.4 ENST00000075120.5 ENST00000075120.6 ENST00000075120.7 ENST00000075120.8 ENST00000075120.9 GLUT3 GTR3_HUMAN NM_006931 P11169 Q6I9U2 Q9UG15 uc001qtr.1 uc001qtr.2 uc001qtr.3 uc001qtr.4 uc001qtr.5 Facilitative glucose transporter. Probably a neuronal glucose transporter. Membrane; Multi-pass membrane protein. Highly expressed in brain. Expressed in many tissues. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. glucose transmembrane transporter activity protein binding glucose binding plasma membrane integral component of plasma membrane carbohydrate metabolic process carbohydrate transport membrane integral component of membrane L-ascorbic acid metabolic process transmembrane transporter activity secretory granule membrane specific granule membrane cell projection perikaryon neutrophil degranulation transmembrane transport extracellular exosome tertiary granule membrane ficolin-1-rich granule membrane glucose transmembrane transport  uc001qtr.1 uc001qtr.2 uc001qtr.3 uc001qtr.4 uc001qtr.5 
ENST00000075322.11 ENPP2 ENST00000075322.11 Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 2, mRNA. (from RefSeq NM_001040092) A8UHA1 ATX ENPP2_HUMAN ENST00000075322.1 ENST00000075322.10 ENST00000075322.2 ENST00000075322.3 ENST00000075322.4 ENST00000075322.5 ENST00000075322.6 ENST00000075322.7 ENST00000075322.8 ENST00000075322.9 NM_001040092 PDNP2 Q13822 Q13827 Q14555 Q15117 Q9UCQ8 Q9UCR0 Q9UCR1 Q9UCR2 Q9UCR3 Q9UCR4 uc003yot.1 uc003yot.2 uc003yot.3 uc003yot.4 The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]. Hydrolyzes lysophospholipids to produce lysophosphatidic acid (LPA) in extracellular fluids. Major substrate is lysophosphatidylcholine. Also can act on sphingosylphosphphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP. Involved in several motility- related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation. Stimulates migration of melanoma cells, probably via a pertussis toxin-sensitive G protein. May have a role in induction of parturition. Possible involvement in cell proliferation and adipose tissue development. Tumor cell motility-stimulating factor. 1-alkyl-sn-glycero-3-phosphoethanolamine + H(2)O = 1-alkyl-sn-glycerol 3-phosphate + ethanolamine. Binds 2 zinc ions per subunit (By similarity). Binds 1 calcium ion per subunit (By similarity). Inhibited by lysophosphatidic acid (LPA) and sphingosine-1-phosphate (S1P). Inhibited by EDTA and EGTA (Probable). Kinetic parameters: KM=0.5 mM for 16:0-LPC (at pH 8.5); KM=5.5 mM for pNP-TMP (at pH 8.5); KM=11.3 mM for pNppp (isoform 1); KM=5.7 mM for pNppp (isoform 2); KM=19.8 mM for pNppp (isoform 3); Vmax=1.9 nmol/min/ug enzyme with pNppp as substrate (isoform 1); Vmax=0.67 nmol/min/ug enzyme with pNppp as substrate (isoform 2); Vmax=1.6 nmol/min/ug enzyme with pNppp as substrate (isoform 3); pH dependence: Optimum pH is 9.0 (isoform 1), 8.0 (isoform 3). Isoform 1 is less sensitive to pH. Isoform 1, isoform 2 and isoform 3 all retain some activity at pH 9.5; Temperature dependence: Isoform 1 and isoform 3 are active from 45 to 60 degrees Celsius; Secreted. Note=Secreted by most body fluids including serum and CSF. Also by adipocytes and numerous cancer cells. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ATXter, Beta; IsoId=Q13822-1; Sequence=Displayed; Name=2; Synonyms=ATXmel, Alpha; IsoId=Q13822-2; Sequence=VSP_006750; Name=3; Synonyms=Gamma; IsoId=Q13822-3; Sequence=VSP_036398; Predominantly expressed in brain, placenta, ovary, and small intestine. Expressed in a number of carcinomas such as hepatocellular and prostate carcinoma, neuroblastoma and non-small-cell lung cancer. Expressed in body fluids such as plasma, cerebral spinal fluid (CSF), saliva, follicular and amniotic fluids. Not detected in leukocytes. Isoform 1 is more highly expressed in peripheral tissues than in the central nervous system (CNS). Adipocytes only express isoform 1. Isoform 3 is more highly expressed in the brain than in peripheral tissues. Up-regulated in massively obese subjects with glucose intolerance, and during adipogenesis. N-glycosylation, but not furin-cleavage, plays a critical role on secretion and on lysoPLD activity (By similarity). It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Contains 2 SMB (somatomedin-B) domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ENPP2ID40455ch8q24.html"; nucleic acid binding catalytic activity phosphodiesterase I activity nucleotide diphosphatase activity lysophospholipase activity scavenger receptor activity calcium ion binding extracellular region extracellular space plasma membrane lipid metabolic process phospholipid metabolic process endocytosis chemotaxis immune response transcription factor binding zinc ion binding phospholipid catabolic process positive regulation of epithelial cell migration lipid catabolic process hydrolase activity polysaccharide binding regulation of cell migration phosphatidylcholine catabolic process regulation of angiogenesis metal ion binding alkylglycerophosphoethanolamine phosphodiesterase activity cell motility positive regulation of peptidyl-tyrosine phosphorylation nucleic acid phosphodiester bond hydrolysis positive regulation of lamellipodium morphogenesis  uc003yot.1 uc003yot.2 uc003yot.3 uc003yot.4 
ENST00000075430.11 CTDP1 ENST00000075430.11 Homo sapiens CTD phosphatase subunit 1 (CTDP1), transcript variant 2, mRNA. (from RefSeq NM_048368) A8MY97 CTDP1_HUMAN ENST00000075430.1 ENST00000075430.10 ENST00000075430.2 ENST00000075430.3 ENST00000075430.4 ENST00000075430.5 ENST00000075430.6 ENST00000075430.7 ENST00000075430.8 ENST00000075430.9 FCP1 NM_048368 Q7Z644 Q96BZ1 Q9Y5B0 Q9Y6F5 uc002lni.1 uc002lni.2 uc002lni.3 This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]. Processively dephosphorylates 'Ser-2' and 'Ser-5' of the heptad repeats YSPTSPS in the C-terminal domain of the largest RNA polymerase II subunit. This promotes the activity of RNA polymerase II. Plays a role in the exit from mitosis by dephosphorylating crucial mitotic substrates (USP44, CDC20 and WEE1) that are required for M-phase-promoting factor (MPF)/CDK1 inactivation. A phosphoprotein + H(2)O = a protein + phosphate. Homodimer. Interacts with GTF2F1. Interacts with WDR77, SNRPB and SNRNP70. Nucleus. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Midbody. Note=Found at centrosomes in prometaphase, at spindle and spindle poles in metaphase and at spindle midzone and midbody in anaphase and telophase-G1 respectively. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Fcp1; IsoId=Q9Y5B0-1; Sequence=Displayed; Name=2; Synonyms=Fcp1a; IsoId=Q9Y5B0-2; Sequence=VSP_009864, VSP_009865; Name=3; Synonyms=Fcp1b; IsoId=Q9Y5B0-3; Sequence=VSP_009864; Name=4; IsoId=Q9Y5B0-4; Sequence=VSP_009865; Ubiquitously expressed. Isoform 3 is expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and placenta. Phosphorylated. In the presence of TFIIF, the phosphorylated form has an increased CTD phosphatase activity. The phosphorylation is required for the physical interaction with GTF2F1. Defects in CTDP1 are a cause of congenital cataracts facial dysmorphism and neuropathy syndrome (CCFDN) [MIM:604168]. CCFDN is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies). The syndrome is characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures). Contains 1 BRCT domain. Contains 1 FCP1 homology domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTDP1"; spindle pole TFIIF-class transcription factor binding phosphoprotein phosphatase activity protein binding nucleus nucleoplasm cytoplasm centrosome microtubule organizing center spindle cytoskeleton transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter protein dephosphorylation cell cycle CTD phosphatase activity exit from mitosis hydrolase activity midbody Tat protein binding macromolecular complex intracellular membrane-bounded organelle positive regulation by host of viral transcription positive regulation of viral transcription spindle midzone cell division negative regulation of cell growth involved in cardiac muscle cell development dephosphorylation of RNA polymerase II C-terminal domain  uc002lni.1 uc002lni.2 uc002lni.3 
ENST00000075503.8 STYK1 ENST00000075503.8 Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. (from RefSeq NM_018423) B2R9T2 ENST00000075503.1 ENST00000075503.2 ENST00000075503.3 ENST00000075503.4 ENST00000075503.5 ENST00000075503.6 ENST00000075503.7 NM_018423 NOK Q52LR3 Q6J9G0 Q9BXY2 Q9NSH1 STYK1_HUMAN uc001qys.1 uc001qys.2 uc001qys.3 Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL353940.1, SRR1660809.181095.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000075503.8/ ENSP00000075503.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (By similarity). ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Membrane; Single-pass membrane protein (Potential). Widely expressed. Highly expressed in brain, placenta and prostate. Expressed in tumor cells such as hepatoma cells L-02, cervix carcinoma cells HeLa, ovary cancer cells Ho8910 and chronic myelogenous leukemia cells K-562, but not in other tumor cells such as epidermoid carcinoma (A-431). Undetectable in most normal lung tissues, widely expressed in lung cancers. Belongs to the protein kinase superfamily. Tyr protein kinase family. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity protein binding ATP binding plasma membrane protein phosphorylation membrane integral component of membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation  uc001qys.1 uc001qys.2 uc001qys.3 
ENST00000078429.9 GNA11 ENST00000078429.9 Homo sapiens G protein subunit alpha 11 (GNA11), mRNA. (from RefSeq NM_002067) ENST00000078429.1 ENST00000078429.2 ENST00000078429.3 ENST00000078429.4 ENST00000078429.5 ENST00000078429.6 ENST00000078429.7 ENST00000078429.8 GA11 GNA11_HUMAN NM_002067 O15109 P29992 Q14350 Q6IB00 uc010xhe.1 uc010xhe.2 uc010xhe.3 uc010xhe.4 uc010xhe.5 uc010xhe.6 The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279833.10491.1, SRR1163658.278623.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000078429.9/ ENSP00000078429.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C. G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Cell membrane; Lipid-anchor (Probable). Belongs to the G-alpha family. G(q) subfamily. nucleotide binding skeletal system development action potential G-protein coupled receptor binding photoreceptor outer segment GTPase activity protein binding GTP binding cytoplasm lysosomal membrane heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway G-protein coupled acetylcholine receptor signaling pathway heart development phototransduction, visible light entrainment of circadian clock membrane guanyl nucleotide binding platelet activation G-protein beta/gamma-subunit complex binding type 2A serotonin receptor binding regulation of melanocyte differentiation metal ion binding developmental pigmentation phospholipase C-activating dopamine receptor signaling pathway extracellular exosome cellular response to pH  uc010xhe.1 uc010xhe.2 uc010xhe.3 uc010xhe.4 uc010xhe.5 uc010xhe.6 
ENST00000078445.7 CREB3L3 ENST00000078445.7 Homo sapiens cAMP responsive element binding protein 3 like 3 (CREB3L3), transcript variant 1, mRNA. (from RefSeq NM_032607) B2R7S6 CR3L3_HUMAN CREBH ENST00000078445.1 ENST00000078445.2 ENST00000078445.3 ENST00000078445.4 ENST00000078445.5 ENST00000078445.6 HYST1481 NM_032607 Q68CJ9 Q6ZMC5 Q96TB9 uc002lzl.1 uc002lzl.2 uc002lzl.3 uc002lzl.4 uc002lzl.5 This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). Seems to function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression. Binds DNA as a dimer (By similarity). Probably homodimerizes. Probably forms a heterodimer with ATF6. Interacts with ATF6. P18850:ATF6; NbExp=2; IntAct=EBI-852194, EBI-852157; Endoplasmic reticulum membrane; Single-pass type II membrane protein. Processed cyclic AMP-responsive element- binding protein 3-like protein 3: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q68CJ9-1; Sequence=Displayed; Name=2; IsoId=Q68CJ9-2; Sequence=VSP_025637; Exclusively expressed in liver. Underexpressed in hepatocellular carcinoma tissues. Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2). N- and O-glycosylated. N-glycosylation is required for optimal proteolytic activation. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the bZIP family. ATF subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=BAD18804.1; Type=Frameshift; Positions=445; Sequence=BAD18804.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Golgi membrane nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding positive regulation of acute inflammatory response DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol regulation of transcription, DNA-templated response to unfolded protein membrane integral component of membrane endoplasmic reticulum unfolded protein response cAMP response element binding protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  uc002lzl.1 uc002lzl.2 uc002lzl.3 uc002lzl.4 uc002lzl.5 
ENST00000078527.9 PIGV ENST00000078527.9 Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. (from UniProt Q9NUD9) AK000484 D3DPL2 ENST00000078527.1 ENST00000078527.2 ENST00000078527.3 ENST00000078527.4 ENST00000078527.5 ENST00000078527.6 ENST00000078527.7 ENST00000078527.8 PIGV_HUMAN Q5JYG7 Q5JYG8 Q5JYG9 Q9NUD9 Q9NX26 uc001bmz.1 uc001bmz.2 uc001bmz.3 uc001bmz.4 uc001bmz.5 Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Not N-glycosylated. Defects in PIGV are the cause of hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300]. It is a syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. Belongs to the PIGV family. Sequence=CAI21625.1; Type=Erroneous gene model prediction; Sequence=CAI21626.1; Type=Erroneous gene model prediction; Sequence=CAI21627.1; Type=Erroneous gene model prediction; mannosyltransferase activity glycolipid mannosyltransferase activity dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane GPI anchor biosynthetic process membrane integral component of membrane preassembly of GPI anchor in ER membrane transferase activity transferase activity, transferring glycosyl groups mannosyltransferase complex mannosylation  uc001bmz.1 uc001bmz.2 uc001bmz.3 uc001bmz.4 uc001bmz.5 
ENST00000080059.12 HDAC7 ENST00000080059.12 Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 8, non-coding RNA. (from RefSeq NR_160436) B3KY08 B4DWI0 B4E0Q5 ENST00000080059.1 ENST00000080059.10 ENST00000080059.11 ENST00000080059.2 ENST00000080059.3 ENST00000080059.4 ENST00000080059.5 ENST00000080059.6 ENST00000080059.7 ENST00000080059.8 ENST00000080059.9 HDAC7A HDAC7_HUMAN NR_160436 Q6P1W9 Q6W9G7 Q7Z4K2 Q7Z5I1 Q8WUI4 Q96K01 Q9BR73 Q9H7L0 Q9NW41 Q9NWA9 Q9NYK9 Q9UFU7 uc010slo.1 uc010slo.2 uc010slo.3 uc010slo.4 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.1964967.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors (By similarity). May be involved in Epstein-Barr virus (EBV) latency, possibly by repressing the viral BZLF1 gene. Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone. Interacts with HDAC1, HDAC2, HDAC3, HDAC4, HDAC5, NCOR1, NCOR2, SIN3A, SIN3B, RBBP4, RBBP7, MTA1L1, SAP30 and MBD3. Interacts with the 14-3-3 protein YWHAE, MEF2A, MEF2B and MEF2C (By similarity). Interacts with KAT5 and EDNRA. Interacts with KDM5B. Interacts with ZMYND15 (By similarity). Nucleus. Cytoplasm. Note=In the nucleus, it associates with distinct subnuclear dot-like structures. Shuttles between the nucleus and the cytoplasm. Treatment with EDN1 results in shuttling from the nucleus to the perinuclear region. The export to cytoplasm depends on the interaction with the 14-3-3 protein YWHAE and is due to its phosphorylation. Event=Alternative splicing; Named isoforms=10; Name=1; IsoId=Q8WUI4-1; Sequence=Displayed; Name=2; IsoId=Q8WUI4-2; Sequence=VSP_007429, VSP_007431; Note=No experimental confirmation available; Name=3; IsoId=Q8WUI4-3; Sequence=VSP_008772; Name=4; IsoId=Q8WUI4-4; Sequence=VSP_007430; Note=No experimental confirmation available; Name=5; IsoId=Q8WUI4-5; Sequence=VSP_038104; Name=6; IsoId=Q8WUI4-6; Sequence=VSP_038105; Name=7; IsoId=Q8WUI4-7; Sequence=VSP_038104, VSP_008772; Name=8; IsoId=Q8WUI4-8; Sequence=VSP_038106, VSP_038107; Name=9; IsoId=Q8WUI4-9; Sequence=VSP_038102; Name=10; IsoId=Q8WUI4-10; Sequence=VSP_038103; The nuclear export sequence mediates the shuttling between the nucleus and the cytoplasm (By similarity). May be phosphorylated by CaMK1. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import. Phosphorylation at Ser-155 by MARK2, MARK3 and PRKD1 promotes interaction with 14- 3-3 proteins and export from the nucleus. Phosphorylation at Ser- 155 is a prerequisite for phosphorylation at Ser-181. Its activity is inhibited by Trichostatin A (TSA), a known histone deacetylase inhibitor (By similarity). Belongs to the histone deacetylase family. HD type 2 subfamily. Sequence=AAF63491.1; Type=Frameshift; Positions=877; Sequence=BAA91474.1; Type=Erroneous initiation; Sequence=BAA91545.1; Type=Erroneous initiation; Sequence=BAB15759.1; Type=Erroneous initiation; Sequence=BAB55363.1; Type=Erroneous initiation; Sequence=BAC56929.1; Type=Miscellaneous discrepancy; Note=Intron retention; histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter vasculogenesis chromatin binding transcription corepressor activity histone deacetylase activity protein kinase C binding protein binding nucleus nucleoplasm cytoplasm cytosol chromatin organization cell-cell junction assembly histone deacetylation hydrolase activity protein kinase binding NAD-dependent histone deacetylase activity (H3-K14 specific) negative regulation of interleukin-2 production activating transcription factor binding negative regulation of osteoblast differentiation negative regulation of transcription, DNA-templated metal ion binding repressing transcription factor binding histone H3 deacetylation 14-3-3 protein binding positive regulation of cell migration involved in sprouting angiogenesis negative regulation of NIK/NF-kappaB signaling  uc010slo.1 uc010slo.2 uc010slo.3 uc010slo.4 
ENST00000081029.8 MRPS35 ENST00000081029.8 Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_021821) ENST00000081029.1 ENST00000081029.2 ENST00000081029.3 ENST00000081029.4 ENST00000081029.5 ENST00000081029.6 ENST00000081029.7 HDCMD11P MDS023 MRPS28 NM_021821 P82673 PSEC0213 Q32LZ1 Q6P4C6 Q7L1M6 Q8NBP4 Q96AI0 Q9H044 Q9HC14 Q9P1R5 RT35_HUMAN uc001rih.1 uc001rih.2 uc001rih.3 uc001rih.4 uc001rih.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]. Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins (By similarity). Mitochondrion (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P82673-1; Sequence=Displayed; Name=2; IsoId=P82673-2; Sequence=VSP_028424; Note=No experimental confirmation available; Sequence=AAG14958.1; Type=Frameshift; Positions=97; Sequence=BAC11579.1; Type=Frameshift; Positions=176; RNA binding structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome mitochondrial translation DNA damage response, detection of DNA damage mitochondrial translational elongation mitochondrial translational termination  uc001rih.1 uc001rih.2 uc001rih.3 uc001rih.4 uc001rih.5 
ENST00000082468.11 BTN3A1 ENST00000082468.11 butyrophilin subfamily 3 member A1 (from HGNC BTN3A1) BC065567 ENST00000082468.1 ENST00000082468.10 ENST00000082468.2 ENST00000082468.3 ENST00000082468.4 ENST00000082468.5 ENST00000082468.6 ENST00000082468.7 ENST00000082468.8 ENST00000082468.9 uc063mho.1  uc063mho.1 
ENST00000083182.8 APPBP2 ENST00000083182.8 Homo sapiens amyloid beta precursor protein binding protein 2 (APPBP2), transcript variant 1, mRNA. (from RefSeq NM_006380) A8K862 APBP2_HUMAN ENST00000083182.1 ENST00000083182.2 ENST00000083182.3 ENST00000083182.4 ENST00000083182.5 ENST00000083182.6 ENST00000083182.7 KIAA0228 NM_006380 O95095 PAT1 Q8WVC9 Q92624 uc002iys.1 uc002iys.2 uc002iys.3 uc002iys.4 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface. Binds APP. Q6ZMV9:KIF6; NbExp=3; IntAct=EBI-743771, EBI-751100; Q969V5:MUL1; NbExp=3; IntAct=EBI-743771, EBI-744120; P23511:NFYA; NbExp=3; IntAct=EBI-743771, EBI-389739; Q4U2R8:SLC22A6; NbExp=3; IntAct=EBI-743771, EBI-749741; Q9BT88:SYT11; NbExp=3; IntAct=EBI-743771, EBI-751770; Nucleus. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein (Potential). Note=Associated with membranes and microtubules. Rapidly degraded by the proteasome upon overexpression of a C-terminal fragment of APP. Contains 8 TPR repeats. Sequence=BAA13217.1; Type=Erroneous initiation; microtubule motor activity protein binding nucleus cytoplasm cytoskeleton microtubule microtubule associated complex intracellular protein transport protein transport membrane cytoplasmic vesicle membrane intracellular transport  uc002iys.1 uc002iys.2 uc002iys.3 uc002iys.4 
ENST00000084795.9 RPL18 ENST00000084795.9 Belongs to the ribosomal protein L18e family. (from UniProt J3QQ67) BC000374 ENST00000084795.1 ENST00000084795.2 ENST00000084795.3 ENST00000084795.4 ENST00000084795.5 ENST00000084795.6 ENST00000084795.7 ENST00000084795.8 J3QQ67 J3QQ67_HUMAN uc061auk.1 Belongs to the ribosomal protein L18e family. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. structural constituent of ribosome nucleolus endoplasmic reticulum cytosol ribosome translation  uc061auk.1 
ENST00000084798.9 CA11 ENST00000084798.9 Homo sapiens carbonic anhydrase 11 (CA11), transcript variant 2, non-coding RNA. (from RefSeq NR_136241) CAH11_HUMAN CARP2 ENST00000084798.1 ENST00000084798.2 ENST00000084798.3 ENST00000084798.4 ENST00000084798.5 ENST00000084798.6 ENST00000084798.7 ENST00000084798.8 NR_136241 O60596 O75493 Q6FHI1 Q9UEC4 UNQ211/PRO237 uc002pjz.1 uc002pjz.2 uc002pjz.3 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.656759.1, SRR3476690.395550.1 [ECO:0000332] ##Evidence-Data-END## Does not have a catalytic activity. Secreted (Potential). Expressed abundantly in the brain with moderate expression also present in spinal cord and thyroid. Belongs to the alpha-carbonic anhydrase family. extracellular region zinc ion binding basolateral plasma membrane carbonate dehydratase activity  uc002pjz.1 uc002pjz.2 uc002pjz.3 
ENST00000085068.7 ISOC2 ENST00000085068.7 Homo sapiens isochorismatase domain containing 2 (ISOC2), transcript variant 2, mRNA. (from RefSeq NM_024710) ENST00000085068.1 ENST00000085068.2 ENST00000085068.3 ENST00000085068.4 ENST00000085068.5 ENST00000085068.6 ISOC2_HUMAN NM_024710 Q6ZN91 Q96AB3 Q9H5G0 uc002qla.1 uc002qla.2 uc002qla.3 uc002qla.4 Interacts with CDKN2A. O95777:NAA38; NbExp=1; IntAct=EBI-372799, EBI-347779; Mitochondrion (By similarity). Cytoplasm. Nucleus. Note=Localizes to the nucleus in the presence of CDKN2A. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96AB3-1; Sequence=Displayed; Name=2; IsoId=Q96AB3-2; Sequence=VSP_022000; Name=3; IsoId=Q96AB3-3; Sequence=VSP_038741; Belongs to the isochorismatase family. catalytic activity protein binding nucleus cytoplasm protein destabilization  uc002qla.1 uc002qla.2 uc002qla.3 uc002qla.4 
ENST00000085079.11 EPN1 ENST00000085079.11 Homo sapiens epsin 1 (EPN1), transcript variant 3, mRNA. (from RefSeq NM_013333) ENST00000085079.1 ENST00000085079.10 ENST00000085079.2 ENST00000085079.3 ENST00000085079.4 ENST00000085079.5 ENST00000085079.6 ENST00000085079.7 ENST00000085079.8 ENST00000085079.9 EPN1_HUMAN NM_013333 Q86ST3 Q9HA18 Q9Y6I3 uc002qlv.1 uc002qlv.2 uc002qlv.3 uc002qlv.4 This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC044651.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis. Monomer. Binds clathrin, ZBTB16/ZNF145 and ITSN1. Binds ubiquitinated proteins (By similarity). Binds REPS2, EPS15, AP2A1 and AP2A2. Interacts with RALBP1 in a complex also containing NUMB and TFAP2A during interphase and mitosis. Interacts with AP2B1. Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Nucleus (By similarity). Membrane, clathrin-coated pit (By similarity). Note=Associated with the cytoplasmic membrane at sites where clathrin-coated pits are forming. Colocalizes with clathrin and AP-2 in a punctate pattern on the plasma membrane. Detected in presynaptic nerve terminals and in Golgi stacks. May shuttle to the nucleus when associated with ZBTB16/ZNF145 (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y6I3-2; Sequence=Displayed; Name=2; IsoId=Q9Y6I3-1; Sequence=VSP_041010, VSP_041011; Note=Ref.1 (AAD38326) sequence differs from that shown due to a frameshift in position 98; Name=3; IsoId=Q9Y6I3-3; Sequence=VSP_041011, VSP_041012; Note=May be due to a competing donor splice site. No experimental confirmation available; The NPF repeat domain is involved in EPS15 binding. The DPW repeat domain is involved in AP2A2 and clathrin binding. The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction with the AP-2 complex subunit AP2B1 (By similarity). Phosphorylated on serine and/or threonine residues in mitotic cells. Phosphorylation reduces interaction with REPS2, AP-2 and the membrane fraction. Depolarization of synaptosomes results in dephosphorylation. Ubiquitinated (By similarity). Belongs to the epsin family. Contains 1 ENTH (epsin N-terminal homology) domain. Contains 3 UIM (ubiquitin-interacting motif) repeats. Name=Protein Spotlight; Note=The bubble's bend - Issue 42 of January 2004; URL="http://web.expasy.org/spotlight/back_issues/sptlt042.shtml"; in utero embryonic development protein binding nucleus cytoplasm cytosol plasma membrane clathrin-coated pit endocytosis Notch signaling pathway female pregnancy lipid binding membrane negative regulation of epidermal growth factor receptor signaling pathway embryonic organ development membrane organization negative regulation of sprouting angiogenesis  uc002qlv.1 uc002qlv.2 uc002qlv.3 uc002qlv.4 
ENST00000085219.10 CD22 ENST00000085219.10 Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. (from RefSeq NM_001771) ENST00000085219.1 ENST00000085219.2 ENST00000085219.3 ENST00000085219.4 ENST00000085219.5 ENST00000085219.6 ENST00000085219.7 ENST00000085219.8 ENST00000085219.9 NM_001771 Q0EAF5 Q0EAF5_HUMAN uc010edt.1 uc010edt.2 uc010edt.3 uc010edt.4 uc010edt.5 uc010edt.6 membrane integral component of membrane  uc010edt.1 uc010edt.2 uc010edt.3 uc010edt.4 uc010edt.5 uc010edt.6 
ENST00000086933.3 GSC2 ENST00000086933.3 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. (from RefSeq NM_005315) ENST00000086933.1 ENST00000086933.2 GSC2_HUMAN GSCL NM_005315 O15499 uc011ags.1 uc011ags.2 uc011ags.3 uc011ags.4 Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC. Nucleus (By similarity). Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels. Expressed in early human development as well as in a limited number of adult tissues. Belongs to the paired homeobox family. Bicoid subfamily. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter anatomical structure morphogenesis sequence-specific DNA binding  uc011ags.1 uc011ags.2 uc011ags.3 uc011ags.4 
ENST00000155093.8 ZFY ENST00000155093.8 Homo sapiens zinc finger protein Y-linked (ZFY), transcript variant 1, mRNA. (from RefSeq NM_003411) B4DVF7 ENST00000155093.1 ENST00000155093.2 ENST00000155093.3 ENST00000155093.4 ENST00000155093.5 ENST00000155093.6 ENST00000155093.7 NM_003411 P08048 Q14021 Q15558 Q1RME9 Q24JR0 Q96TF3 ZFY_HUMAN uc004fqj.1 uc004fqj.2 uc004fqj.3 uc004fqj.4 uc004fqj.5 This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]. Probable transcriptional activator. Binds to the consensus sequence 5'-AGGCCY-3'. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P08048-1; Sequence=Displayed; Name=2; IsoId=P08048-2; Sequence=VSP_042774, VSP_042775; Note=No experimental confirmation available; Name=3; IsoId=P08048-3; Sequence=VSP_042824, VSP_042825, VSP_042826; Note=No experimental confirmation available; The binding of ZFY to DNA is mediated by the interaction of the GGCC core base pairs with zinc fingers 12 and 13. Belongs to the krueppel C2H2-type zinc-finger protein family. ZFX/ZFY subfamily. Contains 13 C2H2-type zinc fingers. Was originally thought to be the testis determining factor (TDF). RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding protein binding nucleus nucleoplasm nucleolus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter metal ion binding  uc004fqj.1 uc004fqj.2 uc004fqj.3 uc004fqj.4 uc004fqj.5 
ENST00000155674.9 HDHD5 ENST00000155674.9 Homo sapiens haloacid dehalogenase like hydrolase domain containing 5 (HDHD5), transcript variant 1, mRNA. (from RefSeq NM_017829) B2RCK5 CECR5 CECR5_HUMAN ENST00000155674.1 ENST00000155674.2 ENST00000155674.3 ENST00000155674.4 ENST00000155674.5 ENST00000155674.6 ENST00000155674.7 ENST00000155674.8 NM_017829 Q9BXW7 Q9BXW8 Q9NWA8 Q9NX41 uc002zmh.1 uc002zmh.2 uc002zmh.3 uc002zmh.4 Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=Q9BXW7-1; Sequence=Displayed; Name=1; IsoId=Q9BXW7-2; Sequence=VSP_003840; Widely expressed. Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. mitochondrion glycerophospholipid biosynthetic process  uc002zmh.1 uc002zmh.2 uc002zmh.3 uc002zmh.4 
ENST00000155840.12 KCNQ1 ENST00000155840.12 Homo sapiens potassium voltage-gated channel subfamily Q member 1 (KCNQ1), transcript variant 1, mRNA. (from RefSeq NM_000218) ENST00000155840.1 ENST00000155840.10 ENST00000155840.11 ENST00000155840.2 ENST00000155840.3 ENST00000155840.4 ENST00000155840.5 ENST00000155840.6 ENST00000155840.7 ENST00000155840.8 ENST00000155840.9 KCNA8 KCNA9 KCNQ1_HUMAN KVLQT1 NM_000218 O00347 O60607 O94787 P51787 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9 uc001lwn.1 uc001lwn.2 uc001lwn.3 uc001lwn.4 uc001lwn.5 uc001lwn.6 uc001lwn.7 This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea. Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; IsoId=P51787-1; Sequence=Displayed; Name=2; Synonyms=TKvLQT1; IsoId=P51787-2; Sequence=VSP_000981, VSP_000982; Note=Truncated isoform that is non-functional alone but modulatory when coexpressed with the full-length isoform 1; Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Defects in KCNQ1 are the cause of long QT syndrome type 1 (LQT1) [MIM:192500]; also known as Romano-Ward syndrome (RWS). Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. LQT1 inheritance is an autosomal dominant. Defects in KCNQ1 are the cause of Jervell and Lange- Nielsen syndrome type 1 (JLNS1) [MIM:220400]. JLNS1 is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. Defects in KCNQ1 are the cause of familial atrial fibrillation type 3 (ATFB3) [MIM:607554]. Atrial fibrillation is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Defects in KCNQ1 are the cause of short QT syndrome type 2 (SQT2) [MIM:609621]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death. Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers). Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNQ1"; Name=Wikipedia; Note=KvLQT1 entry; URL="http://en.wikipedia.org/wiki/KvLQT1"; ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity potassium channel activity protein binding calmodulin binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm lysosome endosome early endosome late endosome endoplasmic reticulum plasma membrane regulation of gene expression by genetic imprinting ion transport potassium ion transport sensory perception of sound regulation of heart contraction voltage-gated potassium channel complex protein phosphatase 1 binding positive regulation of heart rate outward rectifier potassium channel activity membrane integral component of membrane basolateral plasma membrane gene silencing cytoplasmic vesicle membrane cytoplasmic vesicle protein kinase A catalytic subunit binding protein kinase A regulatory subunit binding ion channel complex regulation of ion transmembrane transport cellular response to drug ion channel binding membrane raft inner ear development intestinal absorption transmembrane transport cardiac muscle contraction regulation of membrane repolarization regulation of ventricular cardiac muscle cell membrane repolarization regulation of atrial cardiac muscle cell membrane repolarization positive regulation of cardiac muscle contraction regulation of gastric acid secretion cardiac conduction renal absorption cellular response to cAMP potassium ion transmembrane transport cellular response to epinephrine stimulus cardiovascular system development ventricular cardiac muscle cell action potential voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization membrane repolarization membrane repolarization during action potential membrane repolarization during cardiac muscle cell action potential atrial cardiac muscle cell action potential voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization regulation of heart rate by cardiac conduction scaffold protein binding potassium ion export across plasma membrane membrane repolarization during atrial cardiac muscle cell action potential membrane repolarization during ventricular cardiac muscle cell action potential positive regulation of potassium ion transmembrane transport negative regulation of delayed rectifier potassium channel activity voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization negative regulation of voltage-gated potassium channel activity  uc001lwn.1 uc001lwn.2 uc001lwn.3 uc001lwn.4 uc001lwn.5 uc001lwn.6 uc001lwn.7 
ENST00000155926.9 TRIB2 ENST00000155926.9 Homo sapiens tribbles pseudokinase 2 (TRIB2), transcript variant 1, mRNA. (from RefSeq NM_021643) B2R851 D6W510 ENST00000155926.1 ENST00000155926.2 ENST00000155926.3 ENST00000155926.4 ENST00000155926.5 ENST00000155926.6 ENST00000155926.7 ENST00000155926.8 NM_021643 Q92519 TRB2 TRIB2_HUMAN uc002rbv.1 uc002rbv.2 uc002rbv.3 uc002rbv.4 uc002rbv.5 uc002rbv.6 This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=May associate with the cytoskeleton (By similarity). Highly expressed in peripheral blood leukocytes. Antibodies against TRIB2 are present in sera from patients with autoimmune uveitis. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. Contains 1 protein kinase domain. protein kinase inhibitor activity nucleus cytoplasm cytoskeleton protein phosphorylation negative regulation of protein kinase activity transcription factor binding mitogen-activated protein kinase kinase binding ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process regulation of MAP kinase activity negative regulation of interleukin-10 biosynthetic process negative regulation of fat cell differentiation ubiquitin-protein transferase regulator activity nucleotide binding protein kinase activity  uc002rbv.1 uc002rbv.2 uc002rbv.3 uc002rbv.4 uc002rbv.5 uc002rbv.6 
ENST00000156084.8 OTUD5 ENST00000156084.8 Homo sapiens OTU deubiquitinase 5 (OTUD5), transcript variant 1, mRNA. (from RefSeq NM_017602) ENST00000156084.1 ENST00000156084.2 ENST00000156084.3 ENST00000156084.4 ENST00000156084.5 ENST00000156084.6 ENST00000156084.7 NM_017602 OTUD5_HUMAN Q4KMN9 Q8N6T5 Q96G74 Q9H650 Q9H9U0 Q9NT65 uc004dlu.1 uc004dlu.2 uc004dlu.3 uc004dlu.4 This gene encodes a member of the OTU (ovarian tumor) domain-containing cysteine protease superfamily. The OTU domain confers deubiquitinase activity and the encoded protein has been shown to suppress the type I interferon-dependent innate immune response by cleaving the polyubiquitin chain from an essential type I interferon adaptor protein. Cleavage results in disassociation of the adaptor protein from a downstream signaling complex and disruption of the type I interferon signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2008]. Deubiquitinating enzyme that functions as negative regulator of the innate immune system. Acts via TRAF3 deubiquitination and subsequent suppression of type I interferon (IFN) production. Has peptidase activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Can also cleave 'Lys-11'- linked ubiquitin chains (in vitro). Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Inhibited by N-ethyl-maleimide (NEM). Interacts with TRAF3. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96G74-1; Sequence=Displayed; Name=2; IsoId=Q96G74-2; Sequence=VSP_023195, VSP_023192; Note=No experimental confirmation available; Name=3; IsoId=Q96G74-3; Sequence=VSP_023192, VSP_023193, VSP_023194; Note=No experimental confirmation available; Expressed in various tissues, including the liver and placenta, as well as in peripheral blood leukocytes. Up-regulated by bacterial lipopolysaccharide (LPS) in bone marrow-derived macrophages. Phosphorylation at Ser-177 is required for deubiquitinating activity. Belongs to the peptidase C85 family. Contains 1 OTU domain. Sequence=BAB14131.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15416.1; Type=Erroneous initiation; Note=Translation N-terminally extended; thiol-dependent ubiquitin-specific protease activity cytosol proteolysis peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity negative regulation of type I interferon production response to lipopolysaccharide thiol-dependent ubiquitinyl hydrolase activity Lys63-specific deubiquitinase activity protein K63-linked deubiquitination protein K48-linked deubiquitination ubiquitinyl hydrolase activity Lys48-specific deubiquitinase activity  uc004dlu.1 uc004dlu.2 uc004dlu.3 uc004dlu.4 
ENST00000156109.7 GPKOW ENST00000156109.7 Homo sapiens G-patch domain and KOW motifs (GPKOW), mRNA. (from RefSeq NM_015698) ENST00000156109.1 ENST00000156109.2 ENST00000156109.3 ENST00000156109.4 ENST00000156109.5 ENST00000156109.6 GPATC5 GPATCH5 GPKOW_HUMAN NM_015698 Q59EK5 Q92917 Q9BQA8 T54 uc004dmr.1 uc004dmr.2 uc004dmr.3 uc004dmr.4 uc004dmr.5 uc004dmr.6 This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.255113.1, SRR3476690.303268.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000156109.7/ ENSP00000156109.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Interacts with PRKX. P22694-2:PRKACB; NbExp=4; IntAct=EBI-746309, EBI-5258763; P51817:PRKX; NbExp=2; IntAct=EBI-746309, EBI-4302903; Nucleus (By similarity). Belongs to the MOS2 family. Contains 1 G-patch domain. Contains 2 KOW domains. Sequence=AAB18640.1; Type=Frameshift; Positions=Several; mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex mRNA processing RNA splicing  uc004dmr.1 uc004dmr.2 uc004dmr.3 uc004dmr.4 uc004dmr.5 uc004dmr.6 
ENST00000156471.10 AQR ENST00000156471.10 Homo sapiens aquarius intron-binding spliceosomal factor (AQR), mRNA. (from RefSeq NM_014691) A0JP17 A5YKK3 AQR_HUMAN ENST00000156471.1 ENST00000156471.2 ENST00000156471.3 ENST00000156471.4 ENST00000156471.5 ENST00000156471.6 ENST00000156471.7 ENST00000156471.8 ENST00000156471.9 KIAA0560 NM_014691 O60306 Q2YDX9 Q6IRU8 Q6PIC8 uc001ziv.1 uc001ziv.2 uc001ziv.3 uc001ziv.4 uc001ziv.5 Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis. Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly. May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing. Identified in the spliceosome C complex. Nucleus. Note=Localizes to speckle-like regions of the nucleoplasm. Belongs to the CWF11 family. Sequence=BAA25486.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding mRNA splicing, via spliceosome RNA binding RNA helicase activity mRNA binding helicase activity protein binding ATP binding nucleus nucleoplasm spliceosomal complex transcription-coupled nucleotide-excision repair mRNA processing RNA splicing membrane hydrolase activity U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome  uc001ziv.1 uc001ziv.2 uc001ziv.3 uc001ziv.4 uc001ziv.5 
ENST00000156476.6 KLK13 ENST00000156476.6 Homo sapiens kallikrein related peptidase 13 (KLK13), transcript variant 4, non-coding RNA. (from RefSeq NR_145463) ENST00000156476.1 ENST00000156476.2 ENST00000156476.3 ENST00000156476.4 ENST00000156476.5 NR_145463 Q5BQ99 Q5BQ99_HUMAN uc002pvq.1 uc002pvq.2 uc002pvq.3 uc002pvq.4 Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. [provided by RefSeq, Jan 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY923171.1 [ECO:0000332] ##Evidence-Data-END## Belongs to the peptidase S1 family. serine-type endopeptidase activity proteolysis  uc002pvq.1 uc002pvq.2 uc002pvq.3 uc002pvq.4 
ENST00000156499.7 KLK14 ENST00000156499.7 Homo sapiens kallikrein related peptidase 14 (KLK14), transcript variant 2, mRNA. (from RefSeq NM_022046) A0A1R3UHJ7 ENST00000156499.1 ENST00000156499.2 ENST00000156499.3 ENST00000156499.4 ENST00000156499.5 ENST00000156499.6 NM_022046 uc061bwe.1 uc061bwe.2 This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015].  uc061bwe.1 uc061bwe.2 
ENST00000156626.12 ST6GALNAC1 ENST00000156626.12 Homo sapiens ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), transcript variant 1, mRNA. (from RefSeq NM_018414) ENST00000156626.1 ENST00000156626.10 ENST00000156626.11 ENST00000156626.2 ENST00000156626.3 ENST00000156626.4 ENST00000156626.5 ENST00000156626.6 ENST00000156626.7 ENST00000156626.8 ENST00000156626.9 NM_018414 Q6UW90 Q9NSC6 Q9NSC7 SIA7A_HUMAN SIAT7A UNQ543/PRO848 uc002jsh.1 uc002jsh.2 uc002jsh.3 uc002jsh.4 uc002jsh.5 uc002jsh.6 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]. CMP-N-acetylneuraminate + glycano-(1->3)-(N- acetyl-alpha-D-galactosaminyl)-glycoprotein = CMP + glycano- ((2->6)-alpha-N-acetylneuraminyl)-(N-acetyl-D-galactosaminyl)- glycoprotein. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Potential). Belongs to the glycosyltransferase 29 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/ST6GALNAC1ID44087ch17q25.html"; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST6GALNAC1"; Name=Functional Glycomics Gateway - GTase; Note=ST6GalNAc I; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_630"; Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Golgi apparatus protein glycosylation sialyltransferase activity oligosaccharide biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups sialylation  uc002jsh.1 uc002jsh.2 uc002jsh.3 uc002jsh.4 uc002jsh.5 uc002jsh.6 
ENST00000156825.5 MBD3 ENST00000156825.5 Homo sapiens methyl-CpG binding domain protein 3 (MBD3), transcript variant 2, mRNA. (from RefSeq NM_001281454) A8K4B7 D6W5Z2 ENST00000156825.1 ENST00000156825.2 ENST00000156825.3 ENST00000156825.4 MBD3_HUMAN NM_001281454 O95983 Q6PIL9 Q6PJZ9 Q86XF4 uc002ltk.1 uc002ltk.2 uc002ltk.3 uc002ltk.4 uc002ltk.5 DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Does not bind DNA by itself. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing. Heterodimer with MBD2. Part of the NuRD and the MeCP1 complex. Binds HDAC1, MTA2, DNMT1, p66-alpha and p66-beta. P17844:DDX5; NbExp=4; IntAct=EBI-1783068, EBI-351962; Nucleus. Note=Nuclear, in discrete foci. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95983-1; Sequence=Displayed; Name=2; IsoId=O95983-2; Sequence=VSP_011081; Note=No experimental confirmation available; Contains 1 MBD (methyl-CpG-binding) domain. Sequence=AAH32443.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter chromatin nuclear chromatin heterochromatin in utero embryonic development DNA binding chromatin binding protein binding nucleus nucleoplasm chromosome cytoplasm methylation-dependent chromatin silencing brain development heart development aging methyl-CpG binding tissue development response to organic cyclic compound histone acetylation NuRD complex response to nutrient levels response to estradiol macromolecular complex ATP-dependent chromatin remodeling regulation of DNA methylation embryonic organ development regulation of signal transduction by p53 class mediator RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding nucleosomal DNA binding  uc002ltk.1 uc002ltk.2 uc002ltk.3 uc002ltk.4 uc002ltk.5 
ENST00000157600.8 LMCD1 ENST00000157600.8 Homo sapiens LIM and cysteine rich domains 1 (LMCD1), transcript variant 1, mRNA. (from RefSeq NM_014583) ENST00000157600.1 ENST00000157600.2 ENST00000157600.3 ENST00000157600.4 ENST00000157600.5 ENST00000157600.6 ENST00000157600.7 LMCD1_HUMAN NM_014583 Q9NZU5 uc010hci.1 uc010hci.2 uc010hci.3 uc010hci.4 uc010hci.5 This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6-mediated trans activation of lung- and cardiac tissue- specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway. Interacts with GATA1 and GATA4 (By similarity). Interacts with beta-dystroglycan. Interacts with GATA6. Cytoplasm (By similarity). Nucleus (By similarity). Note=May shuttle between the cytoplasm and the nucleus (By similarity). Expressed in the heart (at protein level). Expressed in many tissues with highest abundance in skeletal muscle. The LIM zinc-binding domains and the Cys-rich region mediate interaction with GATA6 (By similarity). Contains 2 LIM zinc-binding domains. Contains 1 PET domain. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity nucleus nucleoplasm cytoplasm zinc ion binding regulation of cardiac muscle hypertrophy cellular protein metabolic process metal ion binding positive regulation of calcineurin-NFAT signaling cascade  uc010hci.1 uc010hci.2 uc010hci.3 uc010hci.4 uc010hci.5 
ENST00000157812.7 PSMC4 ENST00000157812.7 Homo sapiens proteasome 26S subunit, ATPase 4 (PSMC4), transcript variant 1, mRNA. (from RefSeq NM_006503) ENST00000157812.1 ENST00000157812.2 ENST00000157812.3 ENST00000157812.4 ENST00000157812.5 ENST00000157812.6 MIP224 NM_006503 P43686 PRS6B_HUMAN Q96FV5 Q9UBM3 Q9UEX3 TBP7 uc002omq.1 uc002omq.2 uc002omq.3 uc002omq.4 uc002omq.5 uc002omq.6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. The 26S protease is involved in the ATP-dependent degradation of ubiquitinated proteins. The regulatory (or ATPase) complex confers ATP dependency and substrate specificity to the 26S complex. Interacts with NR1I3. Interacts with PAAF1. P62195:PSMC5; NbExp=11; IntAct=EBI-743997, EBI-357745; P62333:PSMC6; NbExp=3; IntAct=EBI-743997, EBI-357669; O75832:PSMD10; NbExp=8; IntAct=EBI-743997, EBI-752185; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43686-1; Sequence=Displayed; Name=2; IsoId=P43686-2; Sequence=VSP_000022; Note=No experimental confirmation available; Belongs to the AAA ATPase family. MAPK cascade nucleotide binding protein polyubiquitination proteasome complex blastocyst development stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol proteolysis regulation of cellular amino acid metabolic process proteasome regulatory particle, base subcomplex negative regulation of G2/M transition of mitotic cell cycle membrane inclusion body protein deubiquitination hydrolase activity ATPase activity proteasome accessory complex protein catabolic process anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosolic proteasome complex tumor necrosis factor-mediated signaling pathway proteasome-activating ATPase activity NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification synapse positive regulation of RNA polymerase II transcriptional preinitiation complex assembly T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway positive regulation of proteasomal protein catabolic process regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation  uc002omq.1 uc002omq.2 uc002omq.3 uc002omq.4 uc002omq.5 uc002omq.6 
ENST00000158009.6 FNDC8 ENST00000158009.6 Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA. (from RefSeq NM_017559) B2R9G6 ENST00000158009.1 ENST00000158009.2 ENST00000158009.3 ENST00000158009.4 ENST00000158009.5 FNDC8_HUMAN NM_017559 Q8TC99 Q9UFC2 uc002hix.1 uc002hix.2 uc002hix.3 uc002hix.4 uc002hix.5 Contains 1 fibronectin type-III domain. nucleus  uc002hix.1 uc002hix.2 uc002hix.3 uc002hix.4 uc002hix.5 
ENST00000158166.5 CAMKK1 ENST00000158166.5 Homo sapiens calcium/calmodulin dependent protein kinase kinase 1 (CAMKK1), transcript variant 3, mRNA. (from RefSeq NM_172207) CAMKKA ENST00000158166.1 ENST00000158166.2 ENST00000158166.3 ENST00000158166.4 KKCC1_HUMAN NM_172207 Q8N5S9 Q9BQH3 uc002fwv.1 uc002fwv.2 uc002fwv.3 uc002fwv.4 The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death. ATP + a protein = ADP + a phosphoprotein. Activated by Ca(2+)/calmodulin. Binding of calmodulin may relieve intrasteric autoinhibition. Partially inhibited upon phosphorylation by PRCAKA/PKA (By similarity). May be regulated through phosphorylation by CAMK1 and CAMK4. Interacts with CAMK4 and calmodulin (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A, Variant 3; IsoId=Q8N5S9-1; Sequence=Displayed; Name=2; Synonyms=B, Variant 1; IsoId=Q8N5S9-2; Sequence=VSP_012140, VSP_012141; The autoinhibitory domain overlaps with the calmodulin binding region and may be involved in intrasteric autoinhibition. The RP domain (arginine/proline-rich) is involved in the recognition of CAMKI and CAMK4 as substrates (By similarity). Appears to be autophosphorylated in a Ca(2+)/calmodulin- dependent manner. Phosphorylated at multiple sites by PRCAKA/PKA. Phosphorylation of Ser-458 is blocked upon binding to Ca(2+)/calmodulin. In vitro, phosphorylated by CAMK1 and CAMK4 (By similarity). Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity calmodulin-dependent protein kinase activity protein binding calmodulin binding ATP binding nucleus nucleoplasm cytoplasm cytosol protein phosphorylation kinase activity phosphorylation transferase activity intracellular signal transduction positive regulation of protein kinase activity  uc002fwv.1 uc002fwv.2 uc002fwv.3 uc002fwv.4 
ENST00000158526.9 FAM50A ENST00000158526.9 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt B0S8I6) AM393325 B0S8I6 B0S8I6_HUMAN ENST00000158526.1 ENST00000158526.2 ENST00000158526.3 ENST00000158526.4 ENST00000158526.5 ENST00000158526.6 ENST00000158526.7 ENST00000158526.8 uc065cfl.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleus nucleoplasm  uc065cfl.1 
ENST00000158762.8 ACAP1 ENST00000158762.8 Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. (from RefSeq NM_014716) ACAP1_HUMAN CENTB1 ENST00000158762.1 ENST00000158762.2 ENST00000158762.3 ENST00000158762.4 ENST00000158762.5 ENST00000158762.6 ENST00000158762.7 KIAA0050 NM_014716 Q15027 Q53XN9 uc002ggd.1 uc002ggd.2 uc002ggd.3 uc002ggd.4 GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid. Interacts with GTP-bound ARF6. Interacts with third cytoplasmic loop of SLC2A4/GLUT4. Interacts with CLTC. Interacts with GULP1. Forms a complex with GDP-bound ARF6 and GULP1. Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas. PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate, phosphatidylinositol 3,5- bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate ACAP1-binding to PIP2 or PIP3 containing membranes. Phosphorylation at Ser-554 by PKB is required for interaction with ITGB1, export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration. Cells overexpressing ACAP1 show an accumulation of ITGB1 in recycling endosomes and inhibition of stimulation- dependent cell migration. Cells with reduced levels of ACAP1 or AKT1 and AKT2 show inhibition of stimulation-dependent cell migration. Cells overexpressing ACAP1 and PIP5K1C show formation of tubular structures derived from endosomal membranes. Contains 3 ANK repeats. Contains 1 Arf-GAP domain. Contains 1 BAR domain. Contains 1 PH domain. Sequence=BAA06418.2; Type=Erroneous initiation; GTPase activator activity protein binding endosome protein transport membrane positive regulation of GTPase activity metal ion binding recycling endosome membrane  uc002ggd.1 uc002ggd.2 uc002ggd.3 uc002ggd.4 
ENST00000158771.9 DERL2 ENST00000158771.9 Homo sapiens derlin 2 (DERL2), transcript variant 5, non-coding RNA. (from RefSeq NR_130906) CGI-101 DER2 DERL2_HUMAN ENST00000158771.1 ENST00000158771.2 ENST00000158771.3 ENST00000158771.4 ENST00000158771.5 ENST00000158771.6 ENST00000158771.7 ENST00000158771.8 FLANA NR_130906 Q9GZP9 Q9Y3A7 SBBI53 uc002gcc.1 uc002gcc.2 uc002gcc.3 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the degradation substrate. In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses. May play a role in cell proliferation. Forms homo- and heterooligomers with DERL3 and, to a lesser extent, with DERL1. Interacts with VIMP, VCP and EDEM1. Mediates association between VCP and EDEM1, as well as that between VCP and the degradation substrate. Interacts with the SEL1L/SYVN1 and VCP/VIMP protein complexes. Interacts with OS9. Endoplasmic reticulum membrane; Multi-pass membrane protein. Ubiquitous. Overexpressed in various hepatocarcinomas. Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR) (By similarity). Belongs to the derlin family. Sequence=AAD34096.1; Type=Frameshift; Positions=122, 128, 136; Hrd1p ubiquitin ligase ERAD-L complex suckling behavior protein binding early endosome late endosome endoplasmic reticulum endoplasmic reticulum membrane response to unfolded protein positive regulation of cell proliferation membrane integral component of membrane integral component of endoplasmic reticulum membrane positive regulation of cell growth ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response retrograde protein transport, ER to cytosol endoplasmic reticulum quality control compartment misfolded protein binding negative regulation of retrograde protein transport, ER to cytosol endoplasmic reticulum mannose trimming ubiquitin-specific protease binding signal recognition particle receptor complex signal recognition particle  uc002gcc.1 uc002gcc.2 uc002gcc.3 
ENST00000159060.3 NOX3 ENST00000159060.3 Homo sapiens NADPH oxidase 3 (NOX3), mRNA. (from RefSeq NM_015718) ENST00000159060.1 ENST00000159060.2 MOX2 NM_015718 NOX3_HUMAN Q9HBJ9 Q9HBY0 uc003qqm.1 uc003qqm.2 uc003qqm.3 uc003qqm.4 uc003qqm.5 This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF190122.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2142680, SAMEA2144333 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000159060.3/ ENSP00000159060.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## NADPH oxidase which constitutively produces superoxide upon formation of a complex with CYBA/p22phox. Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Activated by the ototoxic drug cisplatin (By similarity). Activated by NOXO1. Cooperatively activated by NCF1 and NCF2 or NOXA1 in a phorbol 12-myristate 13-acetate (PMA)- dependent manner. Inhibited by diphenyleneiodonium chloride. Interacts with and stabilizes CYBA/p22phox. Membrane; Multi-pass membrane protein (Potential). Expressed in fetal kidney and to a lower extent in liver, lung and spleen. Contains 1 FAD-binding FR-type domain. Contains 1 ferric oxidoreductase domain. temperature homeostasis cytoplasm plasma membrane defense response detection of gravity response to gravity membrane integral component of membrane superoxide-generating NADPH oxidase activity oxidoreductase activity superoxide anion generation NADPH oxidase complex otolith development oxidation-reduction process extracellular exosome  uc003qqm.1 uc003qqm.2 uc003qqm.3 uc003qqm.4 uc003qqm.5 
ENST00000159087.7 ANO8 ENST00000159087.7 Homo sapiens anoctamin 8 (ANO8), mRNA. (from RefSeq NM_020959) A6NIJ0 ANO8_HUMAN ENST00000159087.1 ENST00000159087.2 ENST00000159087.3 ENST00000159087.4 ENST00000159087.5 ENST00000159087.6 KIAA1623 NM_020959 Q9HCE9 TMEM16H uc002ngf.1 uc002ngf.2 uc002ngf.3 May act as a calcium-activated chloride channel. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCE9-1; Sequence=Displayed; Name=2; IsoId=Q9HCE9-2; Sequence=VSP_020351, VSP_020352; Expressed in embryonic stem cells, fetal brain and neural tissues. Belongs to the anoctamin family. Sequence=BAB13449.2; Type=Erroneous initiation; intracellular calcium activated chloride channel activity endoplasmic reticulum lumen plasma membrane chloride transport membrane integral component of membrane ion transmembrane transport post-translational protein modification cellular protein metabolic process  uc002ngf.1 uc002ngf.2 uc002ngf.3 
ENST00000159111.9 KDM4B ENST00000159111.9 Homo sapiens lysine demethylase 4B (KDM4B), transcript variant 1, mRNA. (from RefSeq NM_015015) A0A0C4DFL8 ENST00000159111.1 ENST00000159111.2 ENST00000159111.3 ENST00000159111.4 ENST00000159111.5 ENST00000159111.6 ENST00000159111.7 ENST00000159111.8 NM_015015 uc002mbq.1 uc002mbq.2 uc002mbq.3 uc002mbq.4 uc002mbq.5 uc002mbq.6  uc002mbq.1 uc002mbq.2 uc002mbq.3 uc002mbq.4 uc002mbq.5 uc002mbq.6 
ENST00000159647.9 PANX2 ENST00000159647.9 Homo sapiens pannexin 2 (PANX2), transcript variant 2, mRNA. (from RefSeq NM_001160300) B7Z684 ENST00000159647.1 ENST00000159647.2 ENST00000159647.3 ENST00000159647.4 ENST00000159647.5 ENST00000159647.6 ENST00000159647.7 ENST00000159647.8 NM_001160300 PANX2_HUMAN Q96RD5 Q96RD6 Q9UGX8 uc003bjo.1 uc003bjo.2 uc003bjo.3 uc003bjo.4 uc003bjo.5 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. Structural component of the gap junctions and the hemichannels (By similarity). Forms PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes. Does not form homomeric channels (By similarity). P62993:GRB2; NbExp=1; IntAct=EBI-1759592, EBI-401755; Cell membrane; Multi-pass membrane protein (Potential). Cell junction, gap junction. Event=Alternative splicing; Named isoforms=3; Name=3; IsoId=Q96RD6-3; Sequence=Displayed; Name=1; IsoId=Q96RD6-1; Sequence=VSP_002677; Name=2; IsoId=Q96RD6-2; Sequence=VSP_039092, VSP_002677; Belongs to the pannexin family. Name=Wikipedia; Note=Pannexin entry; URL="http://en.wikipedia.org/wiki/Pannexin"; response to ischemia cytoplasm plasma membrane gap junction ion transport cation transport cell-cell signaling channel activity membrane integral component of membrane wide pore channel activity cell junction protein hexamerization positive regulation of interleukin-1 secretion gap junction hemi-channel activity transmembrane transport  uc003bjo.1 uc003bjo.2 uc003bjo.3 uc003bjo.4 uc003bjo.5 
ENST00000160262.10 ICAM3 ENST00000160262.10 Homo sapiens intercellular adhesion molecule 3 (ICAM3), transcript variant 1, mRNA. (from RefSeq NM_002162) ENST00000160262.1 ENST00000160262.2 ENST00000160262.3 ENST00000160262.4 ENST00000160262.5 ENST00000160262.6 ENST00000160262.7 ENST00000160262.8 ENST00000160262.9 ICAM3_HUMAN NM_002162 P32942 Q6PD68 uc002mob.1 uc002mob.2 uc002mob.3 uc002mob.4 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM3 is also a ligand for integrin alpha-D/beta-2. Membrane; Single-pass type I membrane protein. Upon stimulation by a physiologic stimuli becomes rapidly and transiently phosphorylated on serine residues. N-glycosylated; glycans consist of a mixture of tri- and tetra-antennary complex-type chains and high-mannose chains. Belongs to the immunoglobulin superfamily. ICAM family. Contains 5 Ig-like C2-type (immunoglobulin-like) domains. Name=R&D Systems' cytokine source book: ICAM-3; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1589"; Name=Functional Glycomics Gateway - Glycan Binding; Note=ICAM-3; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Itlect_263"; stimulatory C-type lectin receptor signaling pathway receptor binding integrin binding protein binding plasma membrane integral component of plasma membrane phagocytosis cell adhesion membrane integral component of membrane extracellular matrix organization regulation of immune response extracellular exosome cell-cell adhesion  uc002mob.1 uc002mob.2 uc002mob.3 uc002mob.4 
ENST00000160298.9 CAMSAP3 ENST00000160298.9 Homo sapiens calmodulin regulated spectrin associated protein family member 3 (CAMSAP3), transcript variant 2, mRNA. (from RefSeq NM_020902) CAMP3_HUMAN ENST00000160298.1 ENST00000160298.2 ENST00000160298.3 ENST00000160298.4 ENST00000160298.5 ENST00000160298.6 ENST00000160298.7 ENST00000160298.8 KIAA1543 NM_020902 Q8NDF1 Q9P1Y5 uc002mgv.1 uc002mgv.2 uc002mgv.3 uc002mgv.4 uc002mgv.5 uc002mgv.6 Microtubule minus-end binding protein that acts as a regulator of microtubule dynamics. Specifically required for zonula adherens biogenesis and maintenance by anchoring microtubules at their minus-ends to zonula adherens, leading to recruit KIFC3 kinesin to junctional site. Interacts with PLEKHA7. Cell junction, adherens junction. Cytoplasm. Cytoplasm, cytoskeleton (Potential). Note=Scattered in the cytoplasm. Localizes along zonula adherens only at mature cell- cell contacts. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P1Y5-1; Sequence=Displayed; Name=2; IsoId=Q9P1Y5-2; Sequence=VSP_041473; The CKK domain binds microtubules (By similarity). 'Nezha' is a deity in Chinese mythology. Belongs to the CAMSAP1 family. Contains 1 CH (calponin-homology) domain. Contains 1 CKK domain. microtubule cytoskeleton organization in utero embryonic development protein binding calmodulin binding cytoplasm cytoskeleton microtubule adherens junction zonula adherens negative regulation of microtubule depolymerization microtubule binding embryo development ending in birth or egg hatching negative regulation of phosphatase activity cell junction regulation of cell migration spectrin binding establishment or maintenance of microtubule cytoskeleton polarity regulation of microtubule polymerization cytoplasmic microtubule organization neuron projection development regulation of organelle organization microtubule anchoring microtubule minus-end establishment of epithelial cell apical/basal polarity zonula adherens maintenance microtubule minus-end binding actin filament binding regulation of focal adhesion assembly regulation of microtubule cytoskeleton organization epithelial cell-cell adhesion protein transport along microtubule regulation of Golgi organization centrosome  uc002mgv.1 uc002mgv.2 uc002mgv.3 uc002mgv.4 uc002mgv.5 uc002mgv.6 
ENST00000160373.8 CTTNBP2 ENST00000160373.8 Homo sapiens cortactin binding protein 2 (CTTNBP2), transcript variant 1, mRNA. (from RefSeq NM_033427) C7orf8 CORTBP2 CTTB2_HUMAN ENST00000160373.1 ENST00000160373.2 ENST00000160373.3 ENST00000160373.4 ENST00000160373.5 ENST00000160373.6 ENST00000160373.7 KIAA1758 NM_033427 O43389 Q7LG11 Q8WZ74 Q9C0A5 uc003vjf.1 uc003vjf.2 uc003vjf.3 uc003vjf.4 uc003vjf.5 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF377960.1, BC106000.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000160373.8/ ENSP00000160373.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Interacts with CTTN/cortactin SH3 domain (By similarity). Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal muscle and placenta. Contains 6 ANK repeats. cytoplasm cell cortex brain development synaptic vesicle SH3 domain binding cell projection dendritic spine regulation of synapse organization postsynaptic actin cytoskeleton glutamatergic synapse regulation of modification of postsynaptic actin cytoskeleton  uc003vjf.1 uc003vjf.2 uc003vjf.3 uc003vjf.4 uc003vjf.5 
ENST00000160382.10 ACTL6B ENST00000160382.10 Homo sapiens actin like 6B (ACTL6B), transcript variant 2, non-coding RNA. (from RefSeq NR_134539) A4D2D0 ACL6B_HUMAN ACTL6 BAF53B ENST00000160382.1 ENST00000160382.2 ENST00000160382.3 ENST00000160382.4 ENST00000160382.5 ENST00000160382.6 ENST00000160382.7 ENST00000160382.8 ENST00000160382.9 NR_134539 O75421 O94805 uc003uvy.1 uc003uvy.2 uc003uvy.3 uc003uvy.4 uc003uvy.5 The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. Belongs to the chromatin remodeling brain-specific BAF (bBAF) complex, as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex) and is required for postmitotic neural development and dendritic outgrowth. During neural development a switch from a stem/progenitor to a post- mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity). Component of the bBAF complex, which includes at least actin (ACTB), ARID1A/BAF250, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCC2/BAF170, SMARCD2/BAF60B and SMARCE1/BAF57. Note that the bBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. PBRM1 does not belong to bBAF complex. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity). Nucleus. Belongs to the actin family. Sequence=AAC78795.1; Type=Erroneous gene model prediction; chromatin binding transcription coactivator activity structural constituent of cytoskeleton nucleus nucleolus chromatin organization chromatin remodeling regulation of transcription from RNA polymerase II promoter cytoskeleton organization nervous system development SWI/SNF complex spinal cord development NuA4 histone acetyltransferase complex ATP-dependent chromatin remodeling histone H4 acetylation nBAF complex positive regulation of nucleic acid-templated transcription  uc003uvy.1 uc003uvy.2 uc003uvy.3 uc003uvy.4 uc003uvy.5 
ENST00000160713.8 FAM135B ENST00000160713.8 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3QSR3) AK091433 ENST00000160713.1 ENST00000160713.2 ENST00000160713.3 ENST00000160713.4 ENST00000160713.5 ENST00000160713.6 ENST00000160713.7 J3QSR3 J3QSR3_HUMAN uc064qol.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc064qol.1 
ENST00000160740.7 CIC ENST00000160740.7 capicua transcriptional repressor (from HGNC CIC) A0A0A0MQR4 AF363689 ENST00000160740.1 ENST00000160740.2 ENST00000160740.3 ENST00000160740.4 ENST00000160740.5 ENST00000160740.6 uc060zgk.1  uc060zgk.1 
ENST00000160827.9 KIF22 ENST00000160827.9 Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA. (from RefSeq NM_007317) B2R5M0 ENST00000160827.1 ENST00000160827.2 ENST00000160827.3 ENST00000160827.4 ENST00000160827.5 ENST00000160827.6 ENST00000160827.7 ENST00000160827.8 KID KIF22_HUMAN KNSL4 NM_007317 O60845 O94814 Q14807 Q53F58 Q9BT46 uc002dts.1 uc002dts.2 uc002dts.3 uc002dts.4 uc002dts.5 uc002dts.6 The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Kinesin family that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. Interacts with FAM83D. Nucleus. Cytoplasm, cytoskeleton (Probable). Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation (Probable). Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in KIF22 are the cause of spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) [MIM:603546]. A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. Belongs to the kinesin-like protein family. Contains 1 kinesin-motor domain. Sequence=AAC08709.1; Type=Erroneous gene model prediction; Sequence=EAW80007.1; Type=Erroneous gene model prediction; nucleotide binding mitotic cell cycle kinetochore chromatin DNA binding microtubule motor activity protein binding ATP binding nucleus cytoplasm spindle cytosol cytoskeleton kinesin complex microtubule DNA repair retrograde vesicle-mediated transport, Golgi to ER microtubule-based movement sister chromatid cohesion mitotic metaphase plate congression microtubule binding nuclear speck ATPase activity antigen processing and presentation of exogenous peptide antigen via MHC class II metaphase plate congression mitotic spindle  uc002dts.1 uc002dts.2 uc002dts.3 uc002dts.4 uc002dts.5 uc002dts.6 
ENST00000161006.8 PRSS22 ENST00000161006.8 Homo sapiens serine protease 22 (PRSS22), mRNA. (from RefSeq NM_022119) BSSP4 BSSP4_HUMAN ENST00000161006.1 ENST00000161006.2 ENST00000161006.3 ENST00000161006.4 ENST00000161006.5 ENST00000161006.6 ENST00000161006.7 NM_022119 O43342 PRSS26 Q6UXE0 Q9GZN4 SP001LA UNQ302/PRO343 uc002cry.1 uc002cry.2 This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY358396.1, ERR279835.322.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000161006.8/ ENSP00000161006.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Preferentially cleaves the synthetic substrate H-D-Leu- Thr-Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA. Secreted. Expressed abundantly in the epithelial cells of the airways, including trachea, esophagus and fetal lung. Scarce in adult lung. Expressed at low levels in placenta, pancreas, prostate and thyroid gland. Belongs to the peptidase S1 family. Contains 1 peptidase S1 domain. Sequence=AAB93671.1; Type=Erroneous gene model prediction; Sequence=AAQ88762.1; Type=Erroneous initiation; serine-type endopeptidase activity extracellular region proteolysis peptidase activity serine-type peptidase activity hydrolase activity  uc002cry.1 uc002cry.2 
ENST00000161559.11 CEACAM1 ENST00000161559.11 Homo sapiens CEA cell adhesion molecule 1 (CEACAM1), transcript variant 1, mRNA. (from RefSeq NM_001712) A6NE38 A8MY49 BGP BGP1 CEAM1_HUMAN ENST00000161559.1 ENST00000161559.10 ENST00000161559.2 ENST00000161559.3 ENST00000161559.4 ENST00000161559.5 ENST00000161559.6 ENST00000161559.7 ENST00000161559.8 ENST00000161559.9 NM_001712 O60430 P13688 Q069I7 Q13854 Q13857 Q13858 Q13859 Q13860 Q15600 Q15601 Q16170 Q5UB49 Q7KYP5 Q96CA7 Q9UQV9 uc002otv.1 uc002otv.2 uc002otv.3 uc002otv.4 This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]. Q16568:CARTPT; NbExp=3; IntAct=EBI-4314481, EBI-4314526; P40199:CEACAM6; NbExp=2; IntAct=EBI-4314481, EBI-4314501; Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Isoform 3: Secreted. Isoform 4: Secreted. Isoform 5: Cell membrane; Single-pass type I membrane protein. Isoform 6: Cell membrane; Single-pass type I membrane protein. Isoform 7: Cell membrane; Single-pass type I membrane protein. Isoform 8: Cell membrane; Single-pass type I membrane protein. Note=Localizes to sites of cell-cell contact. Event=Alternative splicing; Named isoforms=11; Name=1; Synonyms=BGPa, CEACAM1-4L, TM1-CEA; IsoId=P13688-1; Sequence=Displayed; Name=2; Synonyms=BGPg, CEACAM1-4C1; IsoId=P13688-2; Sequence=VSP_002482, VSP_002483; Name=3; Synonyms=BGPh, CEACAM1-3; IsoId=P13688-3; Sequence=VSP_002478, VSP_002479; Name=4; Synonyms=BGPi, CEACAM1-3C2; IsoId=P13688-4; Sequence=VSP_002480, VSP_002481; Name=5; Synonyms=BGPy, CEACAM1-3AL; IsoId=P13688-5; Sequence=VSP_009227; Note=Ref.5 (BAA02063) sequence is in conflict in positions: 246:D->Y, 329:R->G. Ref.6 (AAA57143) sequence is in conflict in positions: 323:N->L, 337:Q->E; Name=6; Synonyms=BGPb, CEACAM1-3L, TM2-CEA; IsoId=P13688-6; Sequence=VSP_010938; Name=7; Synonyms=BGPx, CEACAM1-1L; IsoId=P13688-7; Sequence=VSP_012222; Name=8; Synonyms=BGPc, CEACAM1-4S, TM3-CEA; IsoId=P13688-8; Sequence=VSP_040572, VSP_040574; Name=9; Synonyms=BGPz, CEACAM1-3AS; IsoId=P13688-9; Sequence=VSP_040571, VSP_040572, VSP_040574; Name=10; IsoId=P13688-10; Sequence=VSP_040573, VSP_040575; Note=No experimental confirmation available; Name=11; Synonyms=BGPd, CEACAM1-3S; IsoId=P13688-11; Sequence=VSP_010938, VSP_040572, VSP_040574; Belongs to the immunoglobulin superfamily. CEA family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=AAA57141.1; Type=Erroneous gene model prediction; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ceacam1/"; angiogenesis regulation of cell growth blood vessel development negative regulation of T cell mediated cytotoxicity negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target molecular_function actin binding protein binding calmodulin binding extracellular region plasma membrane integral component of plasma membrane cell-cell junction adherens junction negative regulation of protein kinase activity cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules integrin-mediated signaling pathway basal plasma membrane cell surface regulation of endothelial cell migration regulation of phosphatidylinositol 3-kinase signaling bile acid transmembrane transporter activity bile acid and bile salt transport membrane integral component of membrane apical plasma membrane lateral plasma membrane cell migration kinase binding protein phosphatase binding cell junction regulation of cell migration transport vesicle membrane negative regulation of granulocyte differentiation filamin binding cytoplasmic vesicle microvillus membrane negative regulation of interleukin-1 production cellular response to insulin stimulus specific granule membrane common myeloid progenitor cell proliferation insulin receptor internalization granulocyte colony-stimulating factor signaling pathway regulation of epidermal growth factor receptor signaling pathway identical protein binding protein homodimerization activity cell projection negative regulation of vascular permeability neutrophil degranulation negative regulation of cytotoxic T cell degranulation wound healing, spreading of cells regulation of endothelial cell differentiation negative regulation of fatty acid biosynthetic process protein dimerization activity negative regulation of T cell receptor signaling pathway leukocyte migration negative regulation of lipid biosynthetic process regulation of blood vessel remodeling extracellular exosome regulation of ERK1 and ERK2 cascade tertiary granule membrane negative regulation of platelet aggregation cell-cell adhesion via plasma-membrane adhesion molecules insulin catabolic process regulation of homophilic cell adhesion regulation of sprouting angiogenesis protein tyrosine kinase binding negative regulation of hepatocyte proliferation positive regulation of vasculogenesis T cell receptor complex  uc002otv.1 uc002otv.2 uc002otv.3 uc002otv.4 
ENST00000161863.9 YTHDC2 ENST00000161863.9 Homo sapiens YTH domain containing 2 (YTHDC2), transcript variant 1, mRNA. (from RefSeq NM_022828) B2RP66 ENST00000161863.1 ENST00000161863.2 ENST00000161863.3 ENST00000161863.4 ENST00000161863.5 ENST00000161863.6 ENST00000161863.7 ENST00000161863.8 NM_022828 Q9H6S0 YTDC2_HUMAN uc003kqn.1 uc003kqn.2 uc003kqn.3 uc003kqn.4 uc003kqn.5 This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]. ATP + H(2)O = ADP + phosphate. Q99J34:Irak1 (xeno); NbExp=2; IntAct=EBI-1057466, EBI-6117042; Q15306:IRF4; NbExp=2; IntAct=EBI-1057466, EBI-751345; Belongs to the DEAD box helicase family. DEAH subfamily. Contains 2 ANK repeats. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Contains 1 R3H domain. Contains 1 YTH domain. Sequence=BAB15183.1; Type=Erroneous initiation; nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus cytoplasm endoplasmic reticulum spermatogenesis spermatid development RNA-dependent ATPase activity hydrolase activity cell differentiation 3'-5' RNA helicase activity response to tumor necrosis factor ribonucleoprotein granule positive regulation by host of viral genome replication oogenesis oocyte development meiotic cell cycle germline cell cycle switching, mitotic to meiotic cell cycle RNA polymerase binding response to interleukin-1 N6-methyladenosine-containing RNA binding  uc003kqn.1 uc003kqn.2 uc003kqn.3 uc003kqn.4 uc003kqn.5 
ENST00000162044.14 TMEM161A ENST00000162044.14 Homo sapiens transmembrane protein 161A (TMEM161A), transcript variant 1, mRNA. (from RefSeq NM_017814) ENST00000162044.1 ENST00000162044.10 ENST00000162044.11 ENST00000162044.12 ENST00000162044.13 ENST00000162044.2 ENST00000162044.3 ENST00000162044.4 ENST00000162044.5 ENST00000162044.6 ENST00000162044.7 ENST00000162044.8 ENST00000162044.9 NM_017814 Q7L2Y1 Q9NX61 T161A_HUMAN UNQ582/PRO1152 uc002nlg.1 uc002nlg.2 uc002nlg.3 uc002nlg.4 uc002nlg.5 uc002nlg.6 Membrane; Multi-pass membrane protein (Potential). Belongs to the TMEM161 family. protein binding membrane integral component of membrane response to retinoic acid cellular response to oxidative stress cellular response to UV positive regulation of DNA repair negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage  uc002nlg.1 uc002nlg.2 uc002nlg.3 uc002nlg.4 uc002nlg.5 uc002nlg.6 
ENST00000162330.10 BCAR1 ENST00000162330.10 Homo sapiens BCAR1 scaffold protein, Cas family member (BCAR1), transcript variant 6, mRNA. (from RefSeq NM_014567) B4DIW5 BCAR1_HUMAN CAS CASS1 CRKAS ENST00000162330.1 ENST00000162330.2 ENST00000162330.3 ENST00000162330.4 ENST00000162330.5 ENST00000162330.6 ENST00000162330.7 ENST00000162330.8 ENST00000162330.9 NM_014567 P56945 uc002fdv.1 uc002fdv.2 uc002fdv.3 uc002fdv.4 uc002fdv.5 The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]. Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion. Implicated in induction of cell migration. Overexpression confers antiestrogen resistance on breast cancer cells. Forms complexes in vivo with PTK2/FAK1, adapter protein CRKL and LYN kinase. Can heterodimerize with NEDD9. Interacts with BCAR3, NPHP1 and SH2D3C (By similarity). Interacts with activated CSPG4. Interacts with BMX, INPPL1/SHIP2 and PEAK1. Part of a collagen-stimulated complex involved in cell migration made of CDC42, CRK, TNK2 and BCAR1/p130cas. Interacts with TNK2 via SH3 domains. Interacts with PTK2B/PYK2. P46108:CRK; NbExp=2; IntAct=EBI-702093, EBI-886; O15357:INPPL1; NbExp=2; IntAct=EBI-702093, EBI-1384248; Q9C0H9:SRCIN1; NbExp=3; IntAct=EBI-702093, EBI-1393949; Q9QWI6:Srcin1 (xeno); NbExp=3; IntAct=EBI-702093, EBI-775592; Q04205:TNS (xeno); NbExp=2; IntAct=EBI-702093, EBI-2607590; Q68CZ2:TNS3; NbExp=8; IntAct=EBI-702093, EBI-1220488; Cell junction, focal adhesion. Cytoplasm. Note=Unphosphorylated form localizes in the cytoplasm and can move to the membrane upon tyrosine phosphorylation (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P56945-1; Sequence=Displayed; Name=2; IsoId=P56945-2; Sequence=VSP_043559; Note=No experimental confirmation available; Widely expressed with an abundant expression in the testis. Low level of expression seen in the liver, thymus, and peripheral blood leukocytes. The protein has been detected in a B-cell line. Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2- binding sites putatively bind CRK, NCK and ABL1 SH2 domains. The HLH motif is absolutely required for the induction of pseudohyphal growth in yeast and mediates heterodimerization with NEDD9 (By similarity). A serine-rich region promotes activation of the serum response element (SRE). The SH3 domain is necessary for the localization of the protein to focal adhesions and interacts with one proline-rich region of PTK2/FAK11. PTK2/FAK1 activation mediates phosphorylation at the YDYVHL motif; phosphorylation is most likely catalyzed by SRC family members. SRC-family kinases are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Tyrosine phosphorylation is triggered by integrin-mediated adhesion of cells to the extracellular matrix. Belongs to the CAS family. Contains 1 SH3 domain. regulation of cell growth ruffle protein binding cytoplasm cytosol focal adhesion actin filament organization cell adhesion signal transduction epidermal growth factor receptor signaling pathway G-protein coupled receptor signaling pathway integrin-mediated signaling pathway insulin receptor signaling pathway positive regulation of endothelial cell migration actin cytoskeleton cell migration SH3 domain binding protein kinase binding lamellipodium cell junction positive regulation of cell migration cellular response to hepatocyte growth factor stimulus regulation of apoptotic process platelet-derived growth factor receptor signaling pathway vascular endothelial growth factor receptor signaling pathway neurotrophin TRK receptor signaling pathway hepatocyte growth factor receptor signaling pathway antigen receptor-mediated signaling pathway T cell receptor signaling pathway B cell receptor signaling pathway cell division cell chemotaxis actin filament reorganization plasma membrane  uc002fdv.1 uc002fdv.2 uc002fdv.3 uc002fdv.4 uc002fdv.5 
ENST00000162391.8 FOXJ2 ENST00000162391.8 Homo sapiens forkhead box J2 (FOXJ2), mRNA. (from RefSeq NM_018416) A0AVK4 B2RMP3 ENST00000162391.1 ENST00000162391.2 ENST00000162391.3 ENST00000162391.4 ENST00000162391.5 ENST00000162391.6 ENST00000162391.7 FHX FOXJ2_HUMAN NM_018416 Q96PS9 Q9NSN5 Q9P0K8 uc001qtu.1 uc001qtu.2 uc001qtu.3 uc001qtu.4 uc001qtu.5 Transcriptional activator. Able to bind to two different type of DNA binding sites. Isoform FOXJ2.L behaves as a more potent transactivator than FOXJ2.S. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=FOXJ2.L; Synonyms=FHX.L; IsoId=Q9P0K8-1; Sequence=Displayed; Name=FOXJ2.S; Synonyms=FHX.S; IsoId=Q9P0K8-2; Sequence=VSP_001544; Widely expressed. Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 1 fork-head DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated negative regulation of angiogenesis identical protein binding sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of vascular smooth muscle cell proliferation  uc001qtu.1 uc001qtu.2 uc001qtu.3 uc001qtu.4 uc001qtu.5 
ENST00000162749.7 TNFRSF1A ENST00000162749.7 Homo sapiens TNF receptor superfamily member 1A (TNFRSF1A), transcript variant 1, mRNA. (from RefSeq NM_001065) A8K4X3 B2RDE4 B3KPQ1 B4DQB7 B4E309 D3DUR1 ENST00000162749.1 ENST00000162749.2 ENST00000162749.3 ENST00000162749.4 ENST00000162749.5 ENST00000162749.6 NM_001065 P19438 Q9UCA4 TNFAR TNFR1 TNR1A_HUMAN uc001qnu.1 uc001qnu.2 uc001qnu.3 uc001qnu.4 uc001qnu.5 This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]. Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate- specific cysteine proteases) mediating apoptosis. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase. Binding of TNF to the extracellular domain leads to homotrimerization. The aggregated death domains provide a novel molecular interface that interacts specifically with the death domain of TRADD. Various TRADD-interacting proteins such as TRAFS, RIPK1 and possibly FADD, are recruited to the complex by their association with TRADD. This complex activates at least two distinct signaling cascades, apoptosis and NF-kappa-B signaling. Interacts with BAG4, BRE, FEM1B, GRB2, SQSTM1 and TRPC4AP. Interacts with HCV core protein. Interacts with human cytomegalovirus/HHV-5 protein UL138. Q13546:RIPK1; NbExp=6; IntAct=EBI-299451, EBI-358507; P01375:TNF; NbExp=6; IntAct=EBI-299451, EBI-359977; Q15628:TRADD; NbExp=10; IntAct=EBI-299451, EBI-359215; Cell membrane; Single-pass type I membrane protein. Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P19438-1; Sequence=Displayed; Name=2; IsoId=P19438-2; Sequence=VSP_037153; Note=No experimental confirmation available; Name=3; IsoId=P19438-3; Sequence=VSP_037154; Note=No experimental confirmation available; The domain that induces A-SMASE is probably identical to the death domain. The N-SMASE activation domain (NSD) is both necessary and sufficient for activation of N-SMASE. Both the cytoplasmic membrane-proximal region and the C- terminal region containing the death domain are involved in the interaction with TRPC4AP (By similarity). The soluble form is produced from the membrane form by proteolytic processing. Defects in TNFRSF1A are the cause of familial hibernian fever (FHF) [MIM:142680]; also known as tumor necrosis factor receptor-associated periodic syndrome (TRAPS). FHF is a hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. Contains 1 death domain. Contains 4 TNFR-Cys repeats. Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=2"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNFRSF1A"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tnfrsf1a/"; Golgi membrane tumor necrosis factor receptor superfamily complex aortic valve development pulmonary valve development negative regulation of extracellular matrix constituent secretion tumor necrosis factor-activated receptor activity protein binding extracellular region extracellular space mitochondrion Golgi apparatus plasma membrane integral component of plasma membrane prostaglandin metabolic process apoptotic process defense response inflammatory response signal transduction cell surface receptor signaling pathway I-kappaB kinase/NF-kappaB signaling extrinsic apoptotic signaling pathway via death domain receptors intrinsic apoptotic signaling pathway in response to DNA damage cell surface negative regulation of cardiac muscle hypertrophy regulation of tumor necrosis factor-mediated signaling pathway membrane integral component of membrane viral process cytokine-mediated signaling pathway tumor necrosis factor-mediated signaling pathway positive regulation of tyrosine phosphorylation of STAT protein defense response to bacterium identical protein binding tumor necrosis factor binding positive regulation of I-kappaB kinase/NF-kappaB signaling receptor complex membrane raft positive regulation of transcription from RNA polymerase II promoter negative regulation of inflammatory response positive regulation of inflammatory response cellular response to mechanical stimulus death-inducing signaling complex assembly protein localization to plasma membrane positive regulation of apoptotic process involved in morphogenesis regulation of establishment of endothelial barrier positive regulation of ceramide biosynthetic process  uc001qnu.1 uc001qnu.2 uc001qnu.3 uc001qnu.4 uc001qnu.5 
ENST00000163416.7 GOLGA5 ENST00000163416.7 Homo sapiens golgin A5 (GOLGA5), mRNA. (from RefSeq NM_005113) C9JRU1 ENST00000163416.1 ENST00000163416.2 ENST00000163416.3 ENST00000163416.4 ENST00000163416.5 ENST00000163416.6 GOGA5_HUMAN NM_005113 O95287 PIG31 Q03962 Q2TS49 Q8TBA6 Q9UQQ7 RETII RFG5 uc001yaz.1 uc001yaz.2 uc001yaz.3 uc001yaz.4 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.122087.1, SRR1803611.169184.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000163416.7/ ENSP00000163416.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport. Homodimer. Interacts with RAB1A that has been activated by GTP-binding, and possibly also with OCRL1. Interacts with isoform CASP of CUX1. Golgi apparatus membrane; Single-pass type IV membrane protein. Note=Found throughout the Golgi, both on cisternae and, at higher abundance, on the tubulo-vesicular structures of the cis-Golgi network. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TBA6-1; Sequence=Displayed; Name=2; IsoId=Q8TBA6-2; Sequence=VSP_007731, VSP_007732; Note=No experimental confirmation available; Ubiquitous. Highly expressed in seminiferous tubules and Leydig cells in testis, and detected at much lower levels in the other tissues tested. Expression is very low or not detectable in spermatozoa. Highly phosphorylated during mitosis. Phosphorylation is barely detectable during interphase. Defects in GOLGA5 are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving GOLGA5 is found in thyroid papillary carcinomas. Translocation t(10;14)(q11;q32) with RET. The translocation generates the RET/GOLGA5 (PTC5) oncogene which was found in 2 cases of PACT in children exposed to radioactive fallout after Chernobyl. Sequence=CAA33787.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from chromosomes 14 and 10; Golgi membrane retrograde transport, vesicle recycling within Golgi Golgi apparatus cis-Golgi network Golgi organization membrane integral component of membrane Rab GTPase binding transport vesicle Golgi cisterna protein homodimerization activity Golgi vesicle transport  uc001yaz.1 uc001yaz.2 uc001yaz.3 uc001yaz.4 
ENST00000163678.11 METTL22 ENST00000163678.11 Probable methyltransferase (By similarity). (from UniProt Q9BUU2) B2RD29 BC001908 C16orf68 D3DUF2 ENST00000163678.1 ENST00000163678.10 ENST00000163678.2 ENST00000163678.3 ENST00000163678.4 ENST00000163678.5 ENST00000163678.6 ENST00000163678.7 ENST00000163678.8 ENST00000163678.9 LP8272 MET22_HUMAN Q6XYB4 Q9BUU2 Q9HA03 uc059qnu.1 Probable methyltransferase (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BUU2-1; Sequence=Displayed; Name=2; IsoId=Q9BUU2-2; Sequence=VSP_025107, VSP_025108; Name=3; IsoId=Q9BUU2-3; Sequence=VSP_025106; Belongs to the methyltransferase superfamily. METTL22 family. protein binding nucleus nucleoplasm nucleolus protein methylation methyltransferase activity protein methyltransferase activity protein-lysine N-methyltransferase activity transferase activity peptidyl-lysine methylation heat shock protein binding methylation macromolecular complex  uc059qnu.1 
ENST00000164024.5 CELSR3 ENST00000164024.5 Homo sapiens cadherin EGF LAG seven-pass G-type receptor 3 (CELSR3), mRNA. (from RefSeq NM_001407) CDHF11 CELR3_HUMAN EGFL1 ENST00000164024.1 ENST00000164024.2 ENST00000164024.3 ENST00000164024.4 FMI1 KIAA0812 MEGF2 NM_001407 O75092 Q9NYQ7 uc003cul.1 uc003cul.2 uc003cul.3 uc003cul.4 uc003cul.5 This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF231023.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164024.5/ ENSP00000164024.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor that may have an important role in cell/cell signaling during nervous system formation. P16333:NCK1; NbExp=2; IntAct=EBI-308417, EBI-389883; Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYQ7-1; Sequence=Displayed; Name=2; IsoId=Q9NYQ7-2; Sequence=VSP_037125; Note=No experimental confirmation available; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 9 cadherin domains. Contains 8 EGF-like domains. Contains 1 GPS domain. Contains 1 laminin EGF-like domain. Contains 2 laminin G-like domains. neuron migration regulation of protein phosphorylation transmembrane signaling receptor activity G-protein coupled receptor activity calcium ion binding protein binding plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway multicellular organism development axonal fasciculation membrane integral component of membrane regulation of protein localization dopaminergic neuron axon guidance serotonergic neuron axon guidance Wnt signaling pathway, planar cell polarity pathway cilium assembly cell-cell adhesion planar cell polarity pathway involved in axon guidance  uc003cul.1 uc003cul.2 uc003cul.3 uc003cul.4 uc003cul.5 
ENST00000164133.7 PPP2R5B ENST00000164133.7 Homo sapiens protein phosphatase 2 regulatory subunit B'beta (PPP2R5B), mRNA. (from RefSeq NM_006244) 2A5B_HUMAN ENST00000164133.1 ENST00000164133.2 ENST00000164133.3 ENST00000164133.4 ENST00000164133.5 ENST00000164133.6 NM_006244 Q13853 Q15173 uc001oby.1 uc001oby.2 uc001oby.3 uc001oby.4 uc001oby.5 The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.888844.1, SRR3476690.697029.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164133.7/ ENSP00000164133.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. The phosphorylated form mediates the interaction between AKT1 and PP2A phosphatase leading to dephosphorylation of AKT1 on the 'Thr-308' and 'Ser-373' residues. PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Interacts with SGOL1. Interacts with AKT1. O96017:CHEK2; NbExp=2; IntAct=EBI-1369497, EBI-1180783; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=Beta-1; IsoId=Q15173-1; Sequence=Displayed; Name=Beta-2; IsoId=Q15173-2; Sequence=VSP_005109; Highest expression in brain. By retinoic acid; in neuroblastoma cell lines. Belongs to the phosphatase 2A regulatory subunit B56 family. protein phosphatase type 2A complex regulation of protein phosphorylation protein binding nucleus cytoplasm cytosol protein dephosphorylation signal transduction regulation of receptor activity positive regulation of neuron projection development regulation of phosphatidylinositol 3-kinase signaling protein phosphatase regulator activity positive regulation of protein complex assembly regulation of protein autophosphorylation IRE1-mediated unfolded protein response regulation of phosphoprotein phosphatase activity positive regulation of transcription from RNA polymerase II promoter regulation of peptidyl-tyrosine phosphorylation positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of neurotrophin TRK receptor signaling pathway negative regulation of protein kinase B signaling negative regulation of G0 to G1 transition positive regulation of cell cycle arrest cellular response to growth factor stimulus protein phosphatase activator activity  uc001oby.1 uc001oby.2 uc001oby.3 uc001oby.4 uc001oby.5 
ENST00000164139.4 PYGM ENST00000164139.4 Homo sapiens glycogen phosphorylase, muscle associated (PYGM), transcript variant 1, mRNA. (from RefSeq NM_005609) A0AVK1 A6NDY6 ENST00000164139.1 ENST00000164139.2 ENST00000164139.3 NM_005609 P11217 PYGM_HUMAN uc001oax.1 uc001oax.2 uc001oax.3 uc001oax.4 uc001oax.5 uc001oax.6 This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4- alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate. Pyridoxal phosphate. Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11217-1; Sequence=Displayed; Name=2; IsoId=P11217-2; Sequence=VSP_043047; Note=No experimental confirmation available; Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Defects in PYGM are the cause of glycogen storage disease type 5 (GSD5) [MIM:232600]; also known as McArdle disease. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. Belongs to the glycogen phosphorylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGM"; nucleotide binding catalytic activity phosphorylase activity protein binding cytoplasm cytosol carbohydrate metabolic process glycogen metabolic process glycogen catabolic process metabolic process glycogen phosphorylase activity transferase activity transferase activity, transferring glycosyl groups pyridoxal phosphate binding extracellular exosome  uc001oax.1 uc001oax.2 uc001oax.3 uc001oax.4 uc001oax.5 uc001oax.6 
ENST00000164227.10 BCL3 ENST00000164227.10 Homo sapiens BCL3 transcription coactivator (BCL3), mRNA. (from RefSeq NM_005178) BCL3_HUMAN BCL4 D19S37 ENST00000164227.1 ENST00000164227.2 ENST00000164227.3 ENST00000164227.4 ENST00000164227.5 ENST00000164227.6 ENST00000164227.7 ENST00000164227.8 ENST00000164227.9 NM_005178 P20749 uc010xxe.1 uc010xxe.2 uc010xxe.3 uc010xxe.4 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC064993.1, SRR1163658.355456.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164227.10/ ENSP00000164227.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity). Component of a complex consisting of the NF-kappa-B p52- p52 homodimer and BCL3. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Interacts with N4BP2, COPS5 and PIR. Interacts with CYLD (By similarity). O95999:BCL10; NbExp=3; IntAct=EBI-958997, EBI-958922; P56545:CTBP2; NbExp=2; IntAct=EBI-958997, EBI-741533; Nucleus. Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Note=Ubiquitination via 'Lys-63'-linked ubiquitin chains is required for nuclear accumulation (By similarity). Polyubiquitinated. Ubiquitination via 'Lys-63'-linked ubiquitin chains is required for nuclear accumulation. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains. Deubiquitination by CYLD prevents nuclear accumulation (By similarity). Activated by phosphorylation. Note=A chromosomal aberration involving BCL3 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(14;19)(q32;q13.1) with immunoglobulin gene regions. Contains 7 ANK repeats. It is uncertain whether Met-1 or Met-9 is the initiator. Sequence=AAA51815.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA51816.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH64993.1; Type=Erroneous initiation; Note=Translation N-terminally extended; follicular dendritic cell differentiation marginal zone B cell differentiation humoral immune response mediated by circulating immunoglobulin germinal center formation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane transcription, DNA-templated cellular response to DNA damage stimulus I-kappaB kinase/NF-kappaB signaling transcription factor binding response to virus response to UV-C antimicrobial humoral response extracellular matrix organization DNA damage response, signal transduction by p53 class mediator midbody protein binding, bridging positive regulation of interferon-gamma production macromolecular complex Bcl3-Bcl10 complex Bcl3/NF-kappaB2 complex T-helper 1 type immune response negative regulation of tumor necrosis factor biosynthetic process defense response to bacterium intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator defense response to protozoan regulation of apoptotic process negative regulation of apoptotic process intracellular membrane-bounded organelle T-helper 2 cell differentiation positive regulation of interleukin-10 biosynthetic process negative regulation of interleukin-8 biosynthetic process positive regulation of translation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of JAK-STAT cascade perinuclear region of cytoplasm spleen development regulation of DNA binding maintenance of protein location in nucleus regulation of NIK/NF-kappaB signaling  uc010xxe.1 uc010xxe.2 uc010xxe.3 uc010xxe.4 
ENST00000164247.5 KCNAB2 ENST00000164247.5 Homo sapiens potassium voltage-gated channel subfamily A regulatory beta subunit 2 (KCNAB2), transcript variant 3, mRNA. (from RefSeq NM_001199860) A0AVM9 A8K1A4 B0AZR7 ENST00000164247.1 ENST00000164247.2 ENST00000164247.3 ENST00000164247.4 KCAB2_HUMAN KCNA2B KCNK2 NM_001199860 O43659 Q13303 Q5TG82 Q5TG83 Q6ZNE4 Q99411 uc001alx.1 uc001alx.2 uc001alx.3 Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]. Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters functional properties of Kv1.4. Forms heteromultimeric complex with alpha subunits. Forms a ternary complex with SQSTM1 and PRKCZ (By similarity). Cytoplasm (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=KvB2.1; IsoId=Q13303-1; Sequence=Displayed; Name=2; Synonyms=KvB2.2; IsoId=Q13303-2; Sequence=VSP_001054; Name=3; IsoId=Q13303-3; Sequence=VSP_041189, VSP_041190; Name=4; IsoId=Q13303-4; Sequence=VSP_044311; Alteration of functional properties of alpha subunit is mediated through N-terminal domain of beta subunit (Probable). Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1 (By similarity). Belongs to the shaker potassium channel beta subunit family. hematopoietic progenitor cell differentiation aldo-keto reductase (NADP) activity voltage-gated ion channel activity voltage-gated potassium channel activity cytoplasm cytosol cytoskeleton plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex postsynaptic density potassium channel regulator activity membrane integral component of membrane oxidoreductase activity cell junction axon extrinsic component of cytoplasmic side of plasma membrane ion transmembrane transport regulation of ion transmembrane transport specific granule membrane cell projection neuron projection neutrophil degranulation axon terminus juxtaparanode region of axon synapse neuromuscular process oxidation-reduction process tertiary granule membrane NADPH oxidation potassium ion transmembrane transport regulation of potassium ion transmembrane transport pinceau fiber regulation of protein localization to cell surface microtubule  uc001alx.1 uc001alx.2 uc001alx.3 
ENST00000164305.10 PIGB ENST00000164305.10 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class B (PIGB), mRNA. (from RefSeq NM_004855) ENST00000164305.1 ENST00000164305.2 ENST00000164305.3 ENST00000164305.4 ENST00000164305.5 ENST00000164305.6 ENST00000164305.7 ENST00000164305.8 ENST00000164305.9 NM_004855 PIGB_HUMAN Q53FF9 Q8WVN7 Q92521 uc002act.1 uc002act.2 uc002act.3 uc002act.4 uc002act.5 This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC017711.1, D42138.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164305.10/ ENSP00000164305.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Belongs to the glycosyltransferase 22 family. PIGB subfamily. mannosyltransferase activity glycolipid mannosyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane GPI anchor biosynthetic process membrane integral component of membrane preassembly of GPI anchor in ER membrane transferase activity transferase activity, transferring glycosyl groups mannosylation  uc002act.1 uc002act.2 uc002act.3 uc002act.4 uc002act.5 
ENST00000164640.8 PDZD4 ENST00000164640.8 Homo sapiens PDZ domain containing 4 (PDZD4), transcript variant 2, mRNA. (from RefSeq NM_032512) B3KXB1 ENST00000164640.1 ENST00000164640.2 ENST00000164640.3 ENST00000164640.4 ENST00000164640.5 ENST00000164640.6 ENST00000164640.7 KIAA1444 NM_032512 PDZD4_HUMAN PDZK4 PDZRN4L Q76G19 Q8NB75 Q9BUH9 Q9P284 uc004fiz.1 uc004fiz.2 Cytoplasm, cell cortex. Note=Mainly localized under the plasma membrane. Brain-specific. Expressed in fetal and adult brain. Up-regulated in synovial carcinomas. Contains 1 PDZ (DHR) domain. Sequence=BAC03666.1; Type=Erroneous initiation; cytoplasm cell cortex protein ubiquitination ubiquitin protein ligase activity  uc004fiz.1 uc004fiz.2 
ENST00000165086.8 NPIPB4 ENST00000165086.8 nuclear pore complex interacting protein family member B4 (from HGNC NPIPB4) ENST00000165086.1 ENST00000165086.2 ENST00000165086.3 ENST00000165086.4 ENST00000165086.5 ENST00000165086.6 ENST00000165086.7 KF175223 uc059rwi.1  uc059rwi.1 
ENST00000165524.1 PRLH ENST00000165524.1 Homo sapiens prolactin releasing hormone (PRLH), mRNA. (from RefSeq NM_015893) NM_015893 PRH Q53QV7 Q53QV7_HUMAN hCG_23020 uc010znl.1 uc010znl.2 tissue homeostasis response to dietary excess reduction of food intake in response to dietary excess hormone activity neuropeptide hormone activity cytoplasm energy reserve metabolic process lipid metabolic process G-protein coupled receptor signaling pathway feeding behavior response to glucose prolactin-releasing peptide receptor binding response to insulin regulation of multicellular organism growth eating behavior response to peptide hormone fat cell differentiation autonomic nervous system development  uc010znl.1 uc010znl.2 
ENST00000165698.9 REEP1 ENST00000165698.9 Homo sapiens receptor accessory protein 1 (REEP1), transcript variant 2, mRNA. (from RefSeq NM_022912) B7Z4D7 B7Z4F2 B7Z5R9 C2orf23 D6W5M2 ENST00000165698.1 ENST00000165698.2 ENST00000165698.3 ENST00000165698.4 ENST00000165698.5 ENST00000165698.6 ENST00000165698.7 ENST00000165698.8 NM_022912 Q53TI0 Q9H902 REEP1_HUMAN uc002srh.1 uc002srh.2 uc002srh.3 uc002srh.4 uc002srh.5 This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC064846.1, SRR1660803.235260.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. Interacts with SPAST and ATL1; it preferentially interacts with SPAST isoform 1. Interacts (via C-terminus) with microtubules. Interacts with odorant receptor proteins (By similarity). Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H902-1; Sequence=Displayed; Name=2; IsoId=Q9H902-2; Sequence=VSP_042573; Note=No experimental confirmation available; Name=3; IsoId=Q9H902-3; Sequence=VSP_043251; Note=No experimental confirmation available; Name=4; IsoId=Q9H902-4; Sequence=VSP_043252; Note=No experimental confirmation available; Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Defects in REEP1 are the cause of distal hereditary motor neuronopathy 5B (HMN5B) [MIM:614751]. A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN5B is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus. Belongs to the DP1 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/REEP1"; protein binding cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane microtubule binding membrane integral component of membrane olfactory receptor binding mitochondrial membrane regulation of intracellular transport protein insertion into membrane endoplasmic reticulum tubular network endoplasmic reticulum tubular network organization  uc002srh.1 uc002srh.2 uc002srh.3 uc002srh.4 uc002srh.5 
ENST00000166139.9 FSTL3 ENST00000166139.9 Homo sapiens follistatin like 3 (FSTL3), mRNA. (from RefSeq NM_005860) A8K7E3 ENST00000166139.1 ENST00000166139.2 ENST00000166139.3 ENST00000166139.4 ENST00000166139.5 ENST00000166139.6 ENST00000166139.7 ENST00000166139.8 FLRG FSTL3_HUMAN NM_005860 O95633 UNQ674/PRO1308 uc002lpk.1 uc002lpk.2 uc002lpk.3 uc002lpk.4 Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005839.2, AY358917.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000166139.9/ ENSP00000166139.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Isoform 1 or the secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiationc. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10. Interacts with INHBA and INHBB. Interacts with FN1. Interacts with ADAM12. Isoform 2 interacts with MLLT10; the interaction enhances MLLT10 in vitro transcriptional activity and self-association. Interacts with MSTN. O43184-2:ADAM12; NbExp=4; IntAct=EBI-2625790, EBI-2625865; Isoform 1: Secreted. Isoform 2: Nucleus. Note=Although alternative initiation has been demonstrated and resulted in different localization, the major source of nuclear FSTL3 appears not to depend on translation initiation at Met-27 according to (PubMed:16150905). Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=O95633-1; Sequence=Displayed; Name=2; IsoId=O95633-2; Sequence=VSP_038553; Expressed in a wide range of tissues. Note=A chromosomal aberration involving FSTL3 is found in a case of B-cell chronic lymphocytic leukemia. Translocation t(11;19)(q13;p13) with CCDN1. Contains 2 follistatin-like domains. Contains 2 Kazal-like domains. Contains 1 TB (TGF-beta binding) domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FSTL3ID111ch19p13.html"; ossification kidney development fibronectin binding hematopoietic progenitor cell differentiation protein binding extracellular region extracellular space nucleus nucleoplasm endoplasmic reticulum lumen Golgi apparatus regulation of transcription from RNA polymerase II promoter multicellular organism development spermatogenesis male gonad development positive regulation of cell-cell adhesion secretory granule cell differentiation lung development adrenal gland development regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of activin receptor signaling pathway post-translational protein modification cellular protein metabolic process neuron projection terminus negative regulation of osteoclast differentiation positive regulation of transcription from RNA polymerase II promoter activin binding cellular response to metal ion negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway  uc002lpk.1 uc002lpk.2 uc002lpk.3 uc002lpk.4 
ENST00000166244.8 EPHA8 ENST00000166244.8 Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. (from RefSeq NM_020526) EEK ENST00000166244.1 ENST00000166244.2 ENST00000166244.3 ENST00000166244.4 ENST00000166244.5 ENST00000166244.6 ENST00000166244.7 EPHA8_HUMAN HEK3 KIAA1459 NM_020526 P29322 Q6IN80 Q8IUX6 Q9NUA9 Q9P269 uc001bfx.1 uc001bfx.2 uc001bfx.3 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]. Receptor tyrosine kinase which binds promiscuously GPI- anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin substrate but also neurite outgrowth. During development of the nervous system plays also a role in axon guidance. Downstream effectors of the EPHA8 signaling pathway include FYN which promotes cell adhesion upon activation by EPHA8 and the MAP kinases in the stimulation of neurite outgrowth (By similarity). ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses. May also form heterodimers with other ephrin receptors (By similarity). Interacts with FYN; possible downstream effector of EPHA8 in regulation of cell adhesion. Interacts with PIK3CG; regulates integrin-mediated cell adhesion to substrate. Interacts with TIAM1; regulates clathrin-mediated endocytosis of EPHA8. Interacts with ANKS1A and ANKS1B; EPHA8 kinase activity- independent but stimulated by EPHA8 ubiquitination. Cell membrane (By similarity); Single-pass type I membrane protein (By similarity). Cell projection (By similarity). Early endosome membrane (By similarity). Note=Undergoes clathrin-mediated endocytosis upon EFNA5-binding and is targeted to early endosomes (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29322-1; Sequence=Displayed; Name=2; IsoId=P29322-2; Sequence=VSP_041946, VSP_041947; Note=No experimental confirmation available; Phosphorylated. Phosphorylation is stimulated upon binding of its ligands including EFNA2, EFNA3 and EFNA5. Autophosphorylation on Tyr-616 is critical for association with FYN. Autophosphorylation on Tyr-839 modulates tyrosine kinase activity (By similarity). Ubiquitinated. Ubiquitination by CBL regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Contains 1 Eph LBD (Eph ligand-binding) domain. Contains 2 fibronectin type-III domains. Contains 1 protein kinase domain. Contains 1 SAM (sterile alpha motif) domain. Sequence=CAA41980.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ephrin receptor activity GPI-linked ephrin receptor activity transmembrane-ephrin receptor activity ATP binding endosome plasma membrane integral component of plasma membrane protein phosphorylation substrate-dependent cell migration cell adhesion transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development axon guidance membrane integral component of membrane kinase activity phosphorylation neuron remodeling transferase activity peptidyl-tyrosine phosphorylation regulation of cell adhesion neuron projection development early endosome membrane regulation of cell adhesion mediated by integrin cell projection neuron projection receptor complex positive regulation of MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity protein autophosphorylation ephrin receptor signaling pathway cellular response to follicle-stimulating hormone stimulus  uc001bfx.1 uc001bfx.2 uc001bfx.3 
ENST00000166345.8 TRIP13 ENST00000166345.8 Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA. (from RefSeq NM_004237) C9K0T3 D3DTC0 ENST00000166345.1 ENST00000166345.2 ENST00000166345.3 ENST00000166345.4 ENST00000166345.5 ENST00000166345.6 ENST00000166345.7 NM_004237 O15324 PCH2 PCH2_HUMAN Q15645 uc003jbr.1 uc003jbr.2 uc003jbr.3 uc003jbr.4 uc003jbr.5 This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]. Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double- strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Specifically interacts with the ligand binding domain of the thyroid receptor (TR). This interaction does not require the presence of thyroid hormone for its interaction. Interacts with HPV16 E1. Q969Q4:ARL11; NbExp=3; IntAct=EBI-358993, EBI-751892; Q9H0W9:C11orf54; NbExp=3; IntAct=EBI-358993, EBI-740204; Q9BWC7:COMT; NbExp=3; IntAct=EBI-358993, EBI-743305; O95865:DDAH2; NbExp=3; IntAct=EBI-358993, EBI-749139; Q8IVS8:GLYCTK; NbExp=3; IntAct=EBI-358993, EBI-748515; Q9BSH5:HDHD3; NbExp=3; IntAct=EBI-358993, EBI-745201; Q6P9B6:KIAA1609; NbExp=3; IntAct=EBI-358993, EBI-746504; Q14847:LASP1; NbExp=3; IntAct=EBI-358993, EBI-742828; Q96JB6:LOXL4; NbExp=3; IntAct=EBI-358993, EBI-749562; Q15013:MAD2L1BP; NbExp=5; IntAct=EBI-358993, EBI-712181; Q9GZT8:NIF3L1; NbExp=3; IntAct=EBI-358993, EBI-740897; O60260:PARK2; NbExp=3; IntAct=EBI-358993, EBI-716346; P67775:PPP2CA; NbExp=3; IntAct=EBI-358993, EBI-712311; Q96HA8:WDYHV1; NbExp=3; IntAct=EBI-358993, EBI-741158; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15645-1; Sequence=Displayed; Name=2; IsoId=Q15645-2; Sequence=VSP_016957; Note=No experimental confirmation available; Belongs to the AAA ATPase family. PCH2 subfamily. Sequence=AAC41732.1; Type=Frameshift; Positions=1, 5; nucleotide binding oocyte maturation male germ cell nucleus transcription cofactor activity protein binding ATP binding nucleus chromosome double-strand break repair transcription from RNA polymerase II promoter mitotic spindle assembly checkpoint synaptonemal complex assembly reciprocal meiotic recombination male meiosis I female meiosis I spermatogenesis spermatid development cell differentiation identical protein binding oogenesis meiotic cell cycle meiotic recombination checkpoint regulation of nucleic acid-templated transcription  uc003jbr.1 uc003jbr.2 uc003jbr.3 uc003jbr.4 uc003jbr.5 
ENST00000166534.8 P4HA2 ENST00000166534.8 Homo sapiens prolyl 4-hydroxylase subunit alpha 2 (P4HA2), transcript variant 5, mRNA. (from RefSeq NM_001142599) D3DQ85 D3DQ86 ENST00000166534.1 ENST00000166534.2 ENST00000166534.3 ENST00000166534.4 ENST00000166534.5 ENST00000166534.6 ENST00000166534.7 NM_001142599 O15460 P4HA2_HUMAN Q8WWN0 UNQ290/PRO330 uc003kwl.1 uc003kwl.2 uc003kwl.3 uc003kwl.4 This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO(2). Binds 1 Fe(2+) ion per subunit (By similarity). Ascorbate (By similarity). Heterotetramer of two alpha-2 chains and two beta chains (the beta chain is the multi-functional PDI). Endoplasmic reticulum lumen. Event=Alternative splicing; Named isoforms=2; Name=IIb; IsoId=O15460-1; Sequence=Displayed; Name=IIa; IsoId=O15460-2; Sequence=VSP_004506; Belongs to the P4HA family. Contains 1 Fe2OG dioxygenase domain. Contains 1 TPR repeat. procollagen-proline 4-dioxygenase activity iron ion binding protein binding nucleoplasm endoplasmic reticulum endoplasmic reticulum lumen cytosol electron carrier activity oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen peptidyl-proline hydroxylation to 4-hydroxy-L-proline electron transport chain L-ascorbic acid binding intracellular membrane-bounded organelle metal ion binding dioxygenase activity oxidation-reduction process  uc003kwl.1 uc003kwl.2 uc003kwl.3 uc003kwl.4 
ENST00000167106.9 VASH1 ENST00000167106.9 Homo sapiens vasohibin 1 (VASH1), mRNA. (from RefSeq NM_014909) ENST00000167106.1 ENST00000167106.2 ENST00000167106.3 ENST00000167106.4 ENST00000167106.5 ENST00000167106.6 ENST00000167106.7 ENST00000167106.8 KIAA1036 NM_014909 Q7L8A9 Q96H02 Q9UBF4 Q9Y629 VASH VASH1_HUMAN uc001xst.1 uc001xst.2 uc001xst.3 uc001xst.4 Angiogenesis inhibitor. Inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis. This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts. Does not affect the proliferation of cancer cells in vitro, but inhibits tumor growth and tumor angiogenesis. Acts in an autocrine manner. Inhibits artery neointimal formation and macrophage infiltration. Exhibits heparin-binding activity. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L8A9-1; Sequence=Displayed; Name=2; IsoId=Q7L8A9-2; Sequence=VSP_013324, VSP_013325; Preferentially expressed in endothelial cells. Highly expressed in fetal organs. Expressed in brain and placenta, and at lower level in heart and kidney. Highly detected in microvessels endothelial cells of atherosclerotic lesions. By VEGF. 2 major forms (42 and 36 kDa) and 2 minors (32 and 27 kDa) may be processed by proteolytic cleavage. The largest form (42 kDa) seems to be secreted and the other major form (63 kDa) seems to accumulate within the cells or pericellular milieu. Polypeptide consisting of Met-77 to Arg-318 may correspond to the 27 kDa form and that consisting of Met-77 to Val-365 may correspond to the 36 kDa form. Belongs to the vasohibin family. Although probably secreted, it lacks a canonical signal sequence. Sequence=AAD44361.1; Type=Erroneous gene model prediction; Sequence=BAA82988.2; Type=Erroneous initiation; angiogenesis negative regulation of endothelial cell proliferation actin binding carboxypeptidase activity metallocarboxypeptidase activity protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum proteolysis cell cycle cell cycle arrest peptidase activity response to wounding negative regulation of endothelial cell migration negative regulation of angiogenesis hydrolase activity negative regulation of blood vessel endothelial cell migration apical part of cell regulation of angiogenesis placenta blood vessel development labyrinthine layer blood vessel development negative regulation of lymphangiogenesis regulation of cellular senescence  uc001xst.1 uc001xst.2 uc001xst.3 uc001xst.4 
ENST00000167218.9 PDCD2 ENST00000167218.9 programmed cell death 2 (from HGNC PDCD2) ENST00000167218.1 ENST00000167218.2 ENST00000167218.3 ENST00000167218.4 ENST00000167218.5 ENST00000167218.6 ENST00000167218.7 ENST00000167218.8 J3QK82 J3QK82_HUMAN JA482069 hCG_2029505 uc063tbj.1 metal ion binding  uc063tbj.1 
ENST00000167462.9 LLGL2 ENST00000167462.9 Homo sapiens LLGL scribble cell polarity complex component 2 (LLGL2), transcript variant 1, mRNA. (from RefSeq NM_004524) ENST00000167462.1 ENST00000167462.2 ENST00000167462.3 ENST00000167462.4 ENST00000167462.5 ENST00000167462.6 ENST00000167462.7 ENST00000167462.8 L2GL2_HUMAN NM_004524 Q14521 Q6P1M3 Q9BR62 uc002joi.1 uc002joi.2 uc002joi.3 uc002joi.4 The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Part of a complex with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6, which may ensure the correct organization and orientation of bipolar spindles for normal cell division. This complex plays roles in the initial phase of the establishment of epithelial cell polarity. Interacts with GPSM2/LGN, PRKCI/aPKC and PARD6B/Par-6. The complex is enhanced during mitosis. Cytoplasm. Note=Localized in the perinuclear structure and faintly at the cell-cell contacts sites in the interphase. Localized at the cell periphery during metaphase. Cortical localization in mitotic cells. Found in the lateral region of polarized epithelial cells. Event=Alternative splicing; Named isoforms=3; Name=C; IsoId=Q6P1M3-1; Sequence=Displayed; Name=A; IsoId=Q6P1M3-2; Sequence=VSP_017946; Note=No experimental confirmation available; Name=B; IsoId=Q6P1M3-3; Sequence=VSP_017944, VSP_017945; Note=No experimental confirmation available; Phosphorylated at Ser-653 by PRKCI. Phosphorylation is enhanced during cell polarization induced by calcium. Phosphorylation may occur during the cell-cell contact-induced cell polarization and may contribute to the segregation of LLGL2 from the PRKCI/aPKC and PARD6B/Par-6 complex. Overexpression of LLGL2 inhibits the tight junction formation. Belongs to the WD repeat L(2)GL family. Contains 14 WD repeats. GTPase activator activity protein binding cytoplasm cytosol plasma membrane exocytosis cell cycle regulation of Notch signaling pathway Rab GTPase binding PDZ domain binding cortical actin cytoskeleton cortical actin cytoskeleton organization regulation of establishment or maintenance of cell polarity intracellular membrane-bounded organelle positive regulation of GTPase activity myosin II binding establishment of spindle orientation cell division  uc002joi.1 uc002joi.2 uc002joi.3 uc002joi.4 
ENST00000167586.7 KRT14 ENST00000167586.7 Homo sapiens keratin 14 (KRT14), mRNA. (from RefSeq NM_000526) ENST00000167586.1 ENST00000167586.2 ENST00000167586.3 ENST00000167586.4 ENST00000167586.5 ENST00000167586.6 K1C14_HUMAN NM_000526 P02533 Q14715 Q53XY3 Q9BUE3 Q9UBN2 Q9UBN3 Q9UCY4 uc002hxf.1 uc002hxf.2 uc002hxf.3 uc002hxf.4 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC094830.1, BC019097.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000167586.7/ ENSP00000167586.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. Heterotetramer of two type I and two type II keratins. disulfide-linked keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern. Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen. A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus. Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]. DM-EBS is a severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]. WC-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]. K-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. Defects in KRT14 are the cause of epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]. AREBS is an intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. Defects in KRT14 are the cause of Naegeli-Franceschetti- Jadassohn syndrome (NFJS) [MIM:161000]; also known as Naegeli syndrome. NFJS is a rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR) [MIM:125595]. DPR is a rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, noncicatricial alopecia, and nail dystrophy. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT14"; structural molecule activity structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol intermediate filament aging epidermis development response to zinc ion response to ionizing radiation epithelial cell differentiation keratinization hemidesmosome assembly hair cycle keratin filament intermediate filament bundle assembly basal part of cell extracellular exosome cornification cell periphery keratin filament binding  uc002hxf.1 uc002hxf.2 uc002hxf.3 uc002hxf.4 
ENST00000167588.4 KRT20 ENST00000167588.4 Homo sapiens keratin 20 (KRT20), mRNA. (from RefSeq NM_019010) B2R6W7 ENST00000167588.1 ENST00000167588.2 ENST00000167588.3 K1C20_HUMAN NM_019010 P35900 uc002hvl.1 uc002hvl.2 uc002hvl.3 uc002hvl.4 uc002hvl.5 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK312744.1, BC031559.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2152474 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000167588.4/ ENSP00000167588.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine (By similarity). Heterotetramer of two type I and two type II keratins. Associates with KRT8. Cytoplasm. Expressed predominantly in the intestinal epithelium. Expressed in luminal cells of colonic mucosa. Also expressed in the Merkel cells of keratinized oral mucosa; specifically at the tips of some rete ridges of the gingival mucosa, in the basal layer of the palatal mucosa and in the taste buds of lingual mucosa. First detected at embryonic week 8 in individual 'converted' simple epithelial cells of the developing intestinal mucosa. In later fetal stages, synthesis extends over most goblet cells and a variable number of villus enterocytes. In the developing gastric and intestinal mucosa, expressed in all enterocytes and goblet cells as well as certain 'low- differentiated' columnar cells, whereas the neuroendocrine and Paneth cells are negative. Hyperphosphorylation at Ser-13 occurs during the early stages of apoptosis but becomes less prominent during the later stages. Phosphorylation at Ser-13 also increases in response to stress brought on by cell injury (By similarity). Proteolytically cleaved by caspases during apoptosis. Cleavage occurs at Asp-228. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity structural constituent of cytoskeleton protein binding cytoplasm cytosol intermediate filament apoptotic process cellular response to starvation keratinization intermediate filament organization regulation of protein secretion cornification  uc002hvl.1 uc002hvl.2 uc002hvl.3 uc002hvl.4 uc002hvl.5 
ENST00000167825.5 ARHGEF10L ENST00000167825.5 Rho guanine nucleotide exchange factor 10 like (from HGNC ARHGEF10L) A0A384DVK7 AK001383 ENST00000167825.1 ENST00000167825.2 ENST00000167825.3 ENST00000167825.4 uc057cun.1  uc057cun.1 
ENST00000168148.8 SPP2 ENST00000168148.8 Homo sapiens secreted phosphoprotein 2 (SPP2), mRNA. (from RefSeq NM_006944) A4QMV3 ENST00000168148.1 ENST00000168148.2 ENST00000168148.3 ENST00000168148.4 ENST00000168148.5 ENST00000168148.6 ENST00000168148.7 NM_006944 Q13103 Q3B892 Q546M5 SPP24 SPP24_HUMAN uc002vvk.1 uc002vvk.2 uc002vvk.3 This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.151662.1, SRR5189664.41883.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000168148.8/ ENSP00000168148.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Could coordinate an aspect of bone turnover (By similarity). Secreted. Detected in liver and plasma. Found in fetal liver and kidney. Phosphorylation sites are present in the extracellular medium. Belongs to the SPP2 family. skeletal system development platelet degranulation endopeptidase inhibitor activity extracellular region endoplasmic reticulum lumen negative regulation of endopeptidase activity platelet dense granule lumen post-translational protein modification cellular protein metabolic process bone remodeling  uc002vvk.1 uc002vvk.2 uc002vvk.3 
ENST00000168216.11 HSD17B10 ENST00000168216.11 Homo sapiens hydroxysteroid 17-beta dehydrogenase 10 (HSD17B10), transcript variant 1, mRNA. (from RefSeq NM_004493) ENST00000168216.1 ENST00000168216.10 ENST00000168216.2 ENST00000168216.3 ENST00000168216.4 ENST00000168216.5 ENST00000168216.6 ENST00000168216.7 ENST00000168216.8 ENST00000168216.9 ERAB HADH2 HCD2_HUMAN MRPP2 NM_004493 Q5H927 Q8TCV9 Q96HD5 Q99714 SCHAD XH98G2 uc004dsl.1 uc004dsl.2 uc004dsl.3 This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]. Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5'-ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH. (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methylacetoacetyl-CoA + NADH. Homotetramer (By similarity). Interacts with MRPP1/TRMT10C and MRPP3/KIAA0391. P05067:APP; NbExp=4; IntAct=EBI-79964, EBI-77613; Q7L0Y3:RG9MTD1; NbExp=4; IntAct=EBI-79964, EBI-2107046; Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99714-1; Sequence=Displayed; Name=2; IsoId=Q99714-2; Sequence=VSP_007830; Note=No experimental confirmation available; Expressed in normal tissues but is overexpressed in neurons affected in AD. Defects in HSD17B10 are the cause of 2-methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) [MIM:300438]. MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills. Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10) [MIM:300220]. MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior. A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17) [MIM:300705]; also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub- average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X- linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSD17B10"; tRNA binding RNA binding 3-hydroxyacyl-CoA dehydrogenase activity protein binding cytoplasm mitochondrion mitochondrial matrix plasma membrane lipid metabolic process mitochondrion organization tRNA processing cholate 7-alpha-dehydrogenase activity branched-chain amino acid catabolic process oxidoreductase activity testosterone dehydrogenase [NAD(P)] activity mitochondrial ribonuclease P complex dihydrotestosterone 17-beta-dehydrogenase activity 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity protein homotetramerization oxidation-reduction process mitochondrial tRNA methylation mitochondrial tRNA processing mitochondrial tRNA 5'-end processing mitochondrial tRNA 3'-end processing  uc004dsl.1 uc004dsl.2 uc004dsl.3 
ENST00000168712.3 FGF4 ENST00000168712.3 Homo sapiens fibroblast growth factor 4 (FGF4), mRNA. (from RefSeq NM_002007) ENST00000168712.1 ENST00000168712.2 FGF4_HUMAN HST HSTF1 KS3 NM_002007 P08620 uc001opg.1 uc001opg.2 uc001opg.3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M17446.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000168712.3/ ENSP00000168712.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Secreted (Potential). Belongs to the heparin-binding growth factors family. MAPK cascade cartilage condensation positive regulation of protein phosphorylation fibroblast growth factor receptor binding extracellular region signal transduction cell-cell signaling multicellular organism development growth factor activity heparin binding positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway mesenchymal cell proliferation regulation of gene expression positive regulation of gene expression stem cell population maintenance cell differentiation embryonic limb morphogenesis embryonic hindlimb morphogenesis odontogenesis of dentin-containing tooth negative regulation of apoptotic process positive regulation of transcription from RNA polymerase II promoter positive regulation of cell division positive regulation of protein kinase B signaling cranial suture morphogenesis apoptotic process involved in morphogenesis chondroblast differentiation positive regulation of ERK1 and ERK2 cascade cellular response to leukemia inhibitory factor regulation of endothelial cell chemotaxis to fibroblast growth factor  uc001opg.1 uc001opg.2 uc001opg.3 
ENST00000168869.12 RGS11 ENST00000168869.12 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H7C5Z0) AK091701 ENST00000168869.1 ENST00000168869.10 ENST00000168869.11 ENST00000168869.2 ENST00000168869.3 ENST00000168869.4 ENST00000168869.5 ENST00000168869.6 ENST00000168869.7 ENST00000168869.8 ENST00000168869.9 H7C5Z0 H7C5Z0_HUMAN uc059oil.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. intracellular signal transduction  uc059oil.1 
ENST00000168977.7 NMRK2 ENST00000168977.7 Homo sapiens nicotinamide riboside kinase 2 (NMRK2), transcript variant 2, mRNA. (from RefSeq NM_170678) ENST00000168977.1 ENST00000168977.2 ENST00000168977.3 ENST00000168977.4 ENST00000168977.5 ENST00000168977.6 ITGB1BP3 NM_170678 NRK2 NRK2_HUMAN Q52M81 Q9NPI5 Q9NZK3 uc002lyz.1 uc002lyz.2 uc002lyz.3 uc002lyz.4 uc002lyz.5 Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis. ATP + 1-(beta-D-ribofuranosyl)-nicotinamide = ADP + beta-nicotinamide D-ribonucleotide. ATP + beta-D-ribosylnicotinate = ADP + nicotinate beta-D-ribonucleotide. Kinetic parameters: KM=0.19 mM for nicotinamide riboside (with ATP as cosubstrate); KM=30 mM for nicotinamide riboside (with GTP as cosubstrate); KM=0.11 mM for tiazofurin (with ATP as cosubstrate); KM=0.063 mM for nicotinic acid riboside (with ATP as cosubstrate); KM=1.3 mM for uridine (with ATP as cosubstrate); Cofactor biosynthesis; NAD(+) biosynthesis. Monomer (By similarity). Interacts with ITGB1 alone or when associated with alpha-7, but not with alpha-5. Q9Y561:LRP12; NbExp=2; IntAct=EBI-514059, EBI-296693; Predominantly expressed in skeletal muscle and, at a much lower level, in the heart (at protein level). No expression in brain, kidney, liver, lung, pancreas nor placenta. Down-regulated during myoblast differentiation (By similarity). Belongs to the uridine kinase family. NRK subfamily. Sequence=AAF26711.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; nucleotide binding protein binding ATP binding nucleoplasm cytosol plasma membrane NAD biosynthetic process kinase activity phosphorylation transferase activity pyridine nucleotide biosynthetic process NAD metabolic process intracellular membrane-bounded organelle negative regulation of myoblast differentiation metal ion binding ribosylnicotinamide kinase activity ribosylnicotinate kinase activity  uc002lyz.1 uc002lyz.2 uc002lyz.3 uc002lyz.4 uc002lyz.5 
ENST00000169293.10 MASP1 ENST00000169293.10 Homo sapiens mannan binding lectin serine peptidase 1 (MASP1), transcript variant 3, mRNA. (from RefSeq NM_001031849) A8K542 A8K6M1 B4E2L7 CRARF CRARF1 ENST00000169293.1 ENST00000169293.2 ENST00000169293.3 ENST00000169293.4 ENST00000169293.5 ENST00000169293.6 ENST00000169293.7 ENST00000169293.8 ENST00000169293.9 MASP1_HUMAN NM_001031849 O95570 P48740 PRSS5 Q68D21 Q8IUV8 Q96RS4 Q9UF09 uc003frk.1 uc003frk.2 uc003frk.3 This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]. Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5. Inhibited by SERPING1 and A2M. Kinetic parameters: KM=0.10 mM for Ac-Gly-Lys-OMe (at 30 degrees Celsius); KM=310 uM for Bz-Arg-OEt (at 30 degrees Celsius); KM=4.8 uM for C2 (at 37 degrees Celsius); Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of complement through activation of C3. Interacts with SERPING1. Secreted. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P48740-1; Sequence=Displayed; Name=2; Synonyms=MASP-3; IsoId=P48740-2; Sequence=VSP_036812, VSP_036813; Note=Glycosylated on Asn-533 and Asn-599. Variant in position: 497:H->Y (in 3MC1). Variant in position: 630:C->R (in 3MC1). Variant in position: 666:G->E (in 3MC1); Name=3; IsoId=P48740-3; Sequence=VSP_036810, VSP_036811; Name=4; IsoId=P48740-4; Sequence=VSP_036809, VSP_036812, VSP_036813; Protein of the plasma which is primarily expressed by liver. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains (By similarity). N-glycosylated. Some N-linked glycan are of the complex-type (By similarity). Autoproteolytic processing of the proenzyme produces the active enzyme composed on the heavy and the light chain held together by a disulfide bond. Isoform 1 but not isoform 2 is activated through autoproteolytic processing. Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1) [MIM:257920]. 3MC1 is a disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. Belongs to the peptidase S1 family. Contains 2 CUB domains. Contains 1 EGF-like domain. Contains 1 peptidase S1 domain. Contains 2 Sushi (CCP/SCR) domains. Sequence=AAH39724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; complement activation, lectin pathway immune system process serine-type endopeptidase activity calcium ion binding protein binding extracellular region extracellular space nucleoplasm cytosol proteolysis receptor-mediated endocytosis complement activation peptidase activity serine-type peptidase activity hydrolase activity protein homodimerization activity innate immune response negative regulation of complement activation metal ion binding calcium-dependent protein binding  uc003frk.1 uc003frk.2 uc003frk.3 
ENST00000169298.8 ST6GAL1 ENST00000169298.8 Homo sapiens ST6 beta-galactoside alpha-2,6-sialyltransferase 1 (ST6GAL1), transcript variant 1, mRNA. (from RefSeq NM_173216) A8KA14 D3DNV3 ENST00000169298.1 ENST00000169298.2 ENST00000169298.3 ENST00000169298.4 ENST00000169298.5 ENST00000169298.6 ENST00000169298.7 NM_173216 P15907 SIAT1 SIAT1_HUMAN uc003frb.1 uc003frb.2 uc003frb.3 uc003frb.4 uc003frb.5 This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.221866.1, SRR1660805.216305.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000169298.8/ ENSP00000169298.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transfers sialic acid from the donor of substrate CMP- sialic acid to galactose containing acceptor substrates. CMP-N-acetylneuraminate + beta-D-galactosyl- 1,4-N-acetyl-beta-D-glucosamine = CMP + alpha-N-acetylneuraminyl- 2,6-beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosamine. Kinetic parameters: KM=530 uM for CMP-NeuAc; Vmax=1.074 pmol/min/ug enzyme; Protein modification; protein glycosylation. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane- bound form in trans cisternae of Golgi. Secreted into the body fluid. The soluble form derives from the membrane form by proteolytic processing. The HB-6, CDW75, and CD76 differentiation antigens are cell- surface carbohydrate determinants generated by this enzyme. Belongs to the glycosyltransferase 29 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST6GAL1"; Name=Functional Glycomics Gateway - GTase; Note=ST6Gal I; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_628"; Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity protein binding extracellular region Golgi apparatus N-acetylneuraminate metabolic process protein glycosylation humoral immune response sialyltransferase activity membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups protein N-linked glycosylation via asparagine Golgi cisterna membrane protein homodimerization activity sialylation  uc003frb.1 uc003frb.2 uc003frb.3 uc003frb.4 uc003frb.5 
ENST00000169551.11 TIMM21 ENST00000169551.11 Homo sapiens translocase of inner mitochondrial membrane 21 (TIMM21), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014177) C18orf55 ENST00000169551.1 ENST00000169551.10 ENST00000169551.2 ENST00000169551.3 ENST00000169551.4 ENST00000169551.5 ENST00000169551.6 ENST00000169551.7 ENST00000169551.8 ENST00000169551.9 HSPC154 NM_014177 Q9BVV7 Q9P010 TIM21 TIM21_HUMAN uc010dqr.1 uc010dqr.2 uc010dqr.3 May participate in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane (By similarity). Mitochondrion membrane; Single-pass membrane protein (Potential). Belongs to the TIM21 family. molecular_function protein binding mitochondrion mitochondrial inner membrane presequence translocase complex protein transport membrane integral component of membrane protein import into mitochondrial matrix mitochondrial membrane mitochondrial respiratory chain complex I assembly mitochondrial respiratory chain complex IV assembly  uc010dqr.1 uc010dqr.2 uc010dqr.3 
ENST00000170150.4 BPIFB2 ENST00000170150.4 Homo sapiens BPI fold containing family B member 2 (BPIFB2), mRNA. (from RefSeq NM_025227) BPIB2_HUMAN BPIL1 C20orf184 ENST00000170150.1 ENST00000170150.2 ENST00000170150.3 LPLUNC2 NM_025227 Q6UWN3 Q6ZME0 Q8N4F0 Q8NFQ7 UNQ2489/PRO5776 uc002wyj.1 uc002wyj.2 uc002wyj.3 uc002wyj.4 uc002wyj.5 uc002wyj.6 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK027068.1, AK172819.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2150585 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000170150.4/ ENSP00000170150.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted (By similarity). Highly expressed in tonsils, especially in hypertrophic tonsils. Detected at very low levels in fetal liver. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. extracellular region extracellular space endoplasmic reticulum lumen lipid binding antimicrobial humoral response post-translational protein modification cellular protein metabolic process extracellular exosome  uc002wyj.1 uc002wyj.2 uc002wyj.3 uc002wyj.4 uc002wyj.5 uc002wyj.6 
ENST00000170168.9 REXO1 ENST00000170168.9 Homo sapiens RNA exonuclease 1 homolog (REXO1), mRNA. (from RefSeq NM_020695) ELOABP1 ENST00000170168.1 ENST00000170168.2 ENST00000170168.3 ENST00000170168.4 ENST00000170168.5 ENST00000170168.6 ENST00000170168.7 ENST00000170168.8 KIAA1138 NM_020695 Q8N1G1 Q9ULT2 REXO1_HUMAN TCEB3BP1 uc002lua.1 uc002lua.2 uc002lua.3 uc002lua.4 uc002lua.5 uc002lua.6 Seems to have no detectable effect on transcription elongation in vitro. Interacts with TCEA2 and TCEB3. Nucleus. Ubiquitously expressed. Belongs to the REXO1/REXO3 family. Contains 1 exonuclease domain. Sequence=BAA86452.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleic acid binding nuclease activity exonuclease activity nucleus nucleoplasm nuclear body hydrolase activity nucleic acid phosphodiester bond hydrolysis  uc002lua.1 uc002lua.2 uc002lua.3 uc002lua.4 uc002lua.5 uc002lua.6 
ENST00000170447.12 MKRN2 ENST00000170447.12 Homo sapiens makorin ring finger protein 2 (MKRN2), transcript variant 1, mRNA. (from RefSeq NM_014160) A6NIA2 B3KRC5 ENST00000170447.1 ENST00000170447.10 ENST00000170447.11 ENST00000170447.2 ENST00000170447.3 ENST00000170447.4 ENST00000170447.5 ENST00000170447.6 ENST00000170447.7 ENST00000170447.8 ENST00000170447.9 HSPC070 MKRN2_HUMAN NM_014160 Q8N391 Q96BD4 Q9BUY2 Q9H000 Q9NRY1 RNF62 uc003bxd.1 uc003bxd.2 uc003bxd.3 uc003bxd.4 uc003bxd.5 uc003bxd.6 This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (By similarity). Protein modification; protein ubiquitination. Widely expressed. Partially overlaps and is antisense to the RAF1 proto-oncogene. Contains 4 C3H1-type zinc fingers. Contains 1 RING-type zinc finger. RNA binding protein binding biological_process protein ubiquitination transferase activity metal ion binding  uc003bxd.1 uc003bxd.2 uc003bxd.3 uc003bxd.4 uc003bxd.5 uc003bxd.6 
ENST00000170564.7 GPATCH1 ENST00000170564.7 Homo sapiens G-patch domain containing 1 (GPATCH1), transcript variant 2, non-coding RNA. (from RefSeq NR_135270) ECGP ENST00000170564.1 ENST00000170564.2 ENST00000170564.3 ENST00000170564.4 ENST00000170564.5 ENST00000170564.6 GPATC1 GPTC1_HUMAN NR_135270 Q8IZV6 Q8N3B7 Q9BRR8 Q9NW94 uc002nug.1 uc002nug.2 uc002nug.3 Belongs to the GPATCH1 family. Contains 1 G-patch domain. Sequence=BAA91489.1; Type=Erroneous initiation; Sequence=CAD39124.1; Type=Erroneous initiation; mRNA splicing, via spliceosome nucleic acid binding RNA binding nucleus mRNA processing catalytic step 2 spliceosome  uc002nug.1 uc002nug.2 uc002nug.3 
ENST00000170630.6 IL4R ENST00000170630.6 Homo sapiens interleukin 4 receptor (IL4R), transcript variant 4, mRNA. (from RefSeq NM_001257407) 582J2.1 B9EKU8 ENST00000170630.1 ENST00000170630.2 ENST00000170630.3 ENST00000170630.4 ENST00000170630.5 H3BSY5 IL4RA IL4RA_HUMAN NM_001257407 P24394 Q96P01 Q9H181 Q9H182 Q9H183 Q9H184 Q9H185 Q9H186 Q9H187 Q9H188 uc059sjv.1 This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]. Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2. Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells. The functional IL4 receptor is formed by initial binding of IL4 to IL4R. Subsequent recruitment to the complex of the common gamma chain, in immune cells, creates a type I receptor and, in non-immune cells, of IL13RA1 forms a type II receptor. IL4R can also interact with the IL13/IL13RA1 complex to form a similar type II receptor. Interacts with PIK3C3 (By similarity). Interacts with the SH2-containing phosphatases, PTPN6/SHIP1, PTPN11/SHIP2 and INPP5D/SHIP (By similarity). Interacts with JAK1 through a Box 1-containing region; inhibited by SOCS5. Interacts with SOCS5; inhibits IL4 signaling (By similarity). P05112:IL4; NbExp=5; IntAct=EBI-367009, EBI-367025; Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Membrane-bound form; IsoId=P24394-1; Sequence=Displayed; Name=2; Synonyms=Soluble form, sIL4Ralpha/splice; IsoId=P24394-2; Sequence=VSP_011116, VSP_011117; Isoform 1 and isoform 2 are highly expressed in activated T-cells. The extracellular domain represents the IL4 binding protein (IL4BP). The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. On IL4 binding, phosphorylated on C-terminal tyrosine residues. Phosphorylation on any one of tyrosine residues, Tyr- 575, Tyr-603 or Tyr-631, is required for STAT6-induced gene induction. The soluble form (sIL4R/IL4BP) can also be produced by proteolytic cleavage at the cell surface (shedding) by a metalloproteinase. Allelic variants in IL4RA are associated with a susceptibility to atopy, an immunological condition that can lead to clinical symptoms such as allergic rhinitis, sinusitis, asthma and eczema. Allelic variants in IL4RA are associated with cedar pollen sensitization. Individuals develop Japanese cedar pollinosis with increased exposure to cedar pollen. Japanese cedar pollinosis is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching. Belongs to the type I cytokine receptor family. Type 4 subfamily. Contains 1 fibronectin type-III domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il4r/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=IL4R"; immune system process production of molecular mediator involved in inflammatory response positive regulation of immunoglobulin production cytokine receptor activity interleukin-4 receptor activity protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane immune response signal transduction membrane integral component of membrane immunoglobulin mediated immune response cytokine-mediated signaling pathway ovulation interleukin-4-mediated signaling pathway regulation of cell proliferation defense response to protozoan positive regulation of macrophage activation receptor complex positive regulation of mast cell degranulation response to estrogen negative regulation of T-helper 1 cell differentiation positive regulation of T-helper 2 cell differentiation positive regulation of chemokine secretion positive regulation of myoblast fusion response to odorant  uc059sjv.1 
ENST00000171111.10 KEAP1 ENST00000171111.10 Homo sapiens kelch like ECH associated protein 1 (KEAP1), transcript variant 1, mRNA. (from RefSeq NM_203500) B3KPD5 ENST00000171111.1 ENST00000171111.2 ENST00000171111.3 ENST00000171111.4 ENST00000171111.5 ENST00000171111.6 ENST00000171111.7 ENST00000171111.8 ENST00000171111.9 INRF2 KEAP1_HUMAN KIAA0132 KLHL19 NM_203500 Q14145 Q6LEP0 Q8WTX1 Q9BPY9 uc002mor.1 uc002mor.2 uc002mor.3 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]. Retains NFE2L2/NRF2 in the cytosol. Functions as substrate adapter protein for the E3 ubiquitin ligase complex formed by CUL3 and RBX1. Targets NFE2L2/NRF2 for ubiquitination and degradation by the proteasome, thus resulting in the suppression of its transcriptional activity and the repression of antioxidant response element-mediated detoxifying enzyme gene expression. May also retain BPTF in the cytosol. Targets PGAM5 for ubiquitination and degradation by the proteasome. Ubiquitination and subsequent degradation of PGAM5 is inhibited by oxidative stress and sulforaphane. Homodimer. Forms a ternary complex with NFE2L2 and PGAM5. Interacts with the N-terminal regulatory domain of NFE2L2/NRF2. Interacts with BPTF and PTMA. Interacts with CUL3. Part of a complex that contains KEAP1, CUL3 and RBX1. Interacts with NFE2L1. O14920:IKBKB; NbExp=6; IntAct=EBI-751001, EBI-81266; O88351:Ikbkb (xeno); NbExp=2; IntAct=EBI-751001, EBI-447960; P15314:Irf1 (xeno); NbExp=2; IntAct=EBI-751001, EBI-6115486; Q04206:RELA; NbExp=4; IntAct=EBI-751001, EBI-73886; Q13501:SQSTM1; NbExp=8; IntAct=EBI-751001, EBI-307104; Q64337:Sqstm1 (xeno); NbExp=2; IntAct=EBI-751001, EBI-645025; Q9Y3Q8:TSC22D4; NbExp=3; IntAct=EBI-751001, EBI-739485; Cytoplasm. Nucleus. Note=Shuttles between cytoplasm and nucleus. Broadly expressed, with highest levels in skeletal muscle. The Kelch repeats mediate interaction with NF2L2/NRF2, BPTF and PGAM5. Ubiquitinated and subject to proteasomal degradation. Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. Sequence=BAA09481.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; in utero embryonic development protein binding nucleus nucleoplasm cytoplasm endoplasmic reticulum microtubule organizing center cytosol actin filament regulation of transcription, DNA-templated transcription factor binding proteasomal ubiquitin-independent protein catabolic process viral process protein ubiquitination protein deubiquitination midbody Cul3-RING ubiquitin ligase complex positive regulation of proteasomal ubiquitin-dependent protein catabolic process macromolecular complex identical protein binding protein homodimerization activity cytoplasmic sequestering of transcription factor negative regulation of sequence-specific DNA binding transcription factor activity post-translational protein modification regulation of epidermal cell differentiation cellular response to interleukin-4 disordered domain specific binding  uc002mor.1 uc002mor.2 uc002mor.3 
ENST00000171757.3 P2RY10 ENST00000171757.3 Homo sapiens P2Y receptor family member 10 (P2RY10), transcript variant 1, mRNA. (from RefSeq NM_014499) D3DTE5 ENST00000171757.1 ENST00000171757.2 NM_014499 O00398 P2Y10_HUMAN Q4VBN7 Q86V16 uc004ede.1 uc004ede.2 uc004ede.3 uc004ede.4 uc004ede.5 The protein encoded by this gene belongs to the family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]. Putative receptor for purines coupled to G-proteins. Cell membrane; Multi-pass membrane protein. Weakly expressed in blood leukocytes. Up-regulated during promyelocytic cell differentiation along the monocytic pathway, but not during granulocytic differentiation. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane integral component of membrane positive regulation of Rho protein signal transduction G-protein coupled purinergic nucleotide receptor signaling pathway G-protein coupled purinergic nucleotide receptor activity positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway  uc004ede.1 uc004ede.2 uc004ede.3 uc004ede.4 uc004ede.5 
ENST00000171887.8 TNS1 ENST00000171887.8 Homo sapiens tensin 1 (TNS1), transcript variant 1, mRNA. (from RefSeq NM_022648) ENST00000171887.1 ENST00000171887.2 ENST00000171887.3 ENST00000171887.4 ENST00000171887.5 ENST00000171887.6 ENST00000171887.7 NM_022648 Q4ZG71 Q9HBL0 TENS1_HUMAN TNS uc002vgt.1 uc002vgt.2 uc002vgt.3 The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton. Binds to actin filaments and interacts with phosphotyrosine-containing proteins. Interacts with STARD8. Cell junction, focal adhesion. Cytoplasm, cytoskeleton. Ubiquitous. Rapidly cleaved by calpain II. Contains 1 C2 tensin-type domain. Contains 1 phosphatase tensin-type domain. Contains 1 SH2 domain. RNA binding actin binding protein binding cytoplasm cytoskeleton focal adhesion cell-substrate junction assembly cell surface fibroblast migration cell junction cell-substrate junction  uc002vgt.1 uc002vgt.2 uc002vgt.3 
ENST00000172229.8 NGFR ENST00000172229.8 Homo sapiens nerve growth factor receptor (NGFR), mRNA. (from RefSeq NM_002507) B2R961 ENST00000172229.1 ENST00000172229.2 ENST00000172229.3 ENST00000172229.4 ENST00000172229.5 ENST00000172229.6 ENST00000172229.7 NM_002507 P08138 TNFRSF16 TNR16_HUMAN uc002ioz.1 uc002ioz.2 uc002ioz.3 uc002ioz.4 uc002ioz.5 uc002ioz.6 Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC050309.1, M14764.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000172229.8/ ENSP00000172229.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Low affinity receptor which can bind to NGF, BDNF, NT-3, and NT-4. Can mediate cell survival as well as cell death of neural cells. Homodimer; disulfide-linked. Interacts with p75NTR- associated cell death executor. Interacts with TRAF2, TRAF4, TRAF6, PTPN13 and RANBP9. Interacts through TRAF6 with SQSTM1 which bridges NGFR to NTRK1. Interacts with BEX1 and NGFRAP1/BEX3. Interacts with KIDINS220 and NTRK1. Can form a ternary complex with NTRK1 and KIDINS220 and this complex is affected by the expression levels of KIDINS220. An increase in KIDINS220 expression leads to a decreased association of NGFR and NTRK1. Interacts with NTRK2; may regulate the ligand specificity of the NTRK2 receptor (By similarity). Interacts with LINGO1. P05067:APP; NbExp=4; IntAct=EBI-1387782, EBI-77613; P33681:CD80; NbExp=3; IntAct=EBI-1387782, EBI-1031024; P25233:Ndn (xeno); NbExp=3; IntAct=EBI-1387782, EBI-1801080; Q9CPR8:Ndnl2 (xeno); NbExp=3; IntAct=EBI-1387782, EBI-5529102; Membrane; Single-pass type I membrane protein. Death domain is responsible for interaction with RANBP9. The extracellular domain is responsible for interaction with NTRK1 (By similarity). N- and O-glycosylated. O-linked glycans consist of Gal(1-3)GalNAc core elongated by 1 or 2 NeuNAc. Phosphorylated on serine residues. Contains 1 death domain. Contains 4 TNFR-Cys repeats. beta-amyloid binding cellular glucose homeostasis transmembrane signaling receptor activity death receptor activity protein binding calmodulin binding extracellular region nucleoplasm endosome cytosol plasma membrane integral component of plasma membrane intracellular protein transport apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction Rho protein signal transduction multicellular organism development nervous system development cell surface coreceptor activity membrane integral component of membrane Rab GTPase binding cell differentiation growth cone membrane protein intracellular domain proteolysis ubiquitin protein ligase binding circadian regulation of gene expression signaling receptor activity glucose homeostasis cell projection positive regulation of apoptotic process negative regulation of apoptotic process neurotrophin binding negative regulation of cysteine-type endopeptidase activity involved in apoptotic process dendritic spine perikaryon regulation of cysteine-type endopeptidase activity involved in apoptotic process neurotrophin TRK receptor signaling pathway nerve growth factor binding rhythmic process negative regulation of axonogenesis positive regulation of axonogenesis neuron apoptotic process positive regulation of protein localization to nucleus positive regulation of pri-miRNA transcription from RNA polymerase II promoter negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis cellular response to beta-amyloid  uc002ioz.1 uc002ioz.2 uc002ioz.3 uc002ioz.4 uc002ioz.5 uc002ioz.6 
ENST00000173229.7 NTN1 ENST00000173229.7 Homo sapiens netrin 1 (NTN1), mRNA. (from RefSeq NM_004822) E9KL51 ENST00000173229.1 ENST00000173229.2 ENST00000173229.3 ENST00000173229.4 ENST00000173229.5 ENST00000173229.6 NET1_HUMAN NM_004822 NTN1L O95631 uc002glw.1 uc002glw.2 uc002glw.3 uc002glw.4 uc002glw.5 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U75586.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000173229.7/ ENSP00000173229.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. It also serve as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis. Binds to its receptors; DCC, DSCAM, UNC5A, UNC5B, UNC5C and probably UNC5D. Secreted, extracellular space, extracellular matrix (By similarity). Widely expressed in normal adult tissues with highest levels in heart, small intestine, colon, liver and prostate. Reduced expression in brain tumors and neuroblastomas. Expressed in epididymis (at protein level). Contains 3 laminin EGF-like domains. Contains 1 laminin N-terminal domain. Contains 1 NTR domain. neuron migration protein binding extracellular region basement membrane cytoplasm apoptotic process substrate-dependent cell migration, cell extension nuclear migration Ras protein signal transduction axonogenesis axon guidance motor neuron axon guidance positive regulation of cell proliferation animal organ morphogenesis tissue development dendrite development regulation of cell migration negative regulation of axon extension mammary gland development Cdc42 protein signal transduction anterior/posterior axon guidance inner ear morphogenesis positive regulation of axon extension regulation of synapse assembly mammary gland duct morphogenesis chemorepulsion of axon cell-cell adhesion negative regulation of netrin-activated signaling pathway positive regulation of cell motility  uc002glw.1 uc002glw.2 uc002glw.3 uc002glw.4 uc002glw.5 
ENST00000173527.6 ISOC1 ENST00000173527.6 Homo sapiens isochorismatase domain containing 1 (ISOC1), mRNA. (from RefSeq NM_016048) CGI-111 ENST00000173527.1 ENST00000173527.2 ENST00000173527.3 ENST00000173527.4 ENST00000173527.5 ISOC1_HUMAN NM_016048 Q7Z770 Q96CN7 uc003kva.1 uc003kva.2 uc003kva.3 uc003kva.4 uc003kva.5 Belongs to the isochorismatase family. Sequence=AAH08367.1; Type=Erroneous initiation; Sequence=AAH14105.2; Type=Erroneous initiation; molecular_function catalytic activity protein binding cytoplasm peroxisome biological_process  uc003kva.1 uc003kva.2 uc003kva.3 uc003kva.4 uc003kva.5 
ENST00000173785.4 KLF6 ENST00000173785.4 Kruppel like factor 6 (from HGNC KLF6) BC004301 ENST00000173785.1 ENST00000173785.2 ENST00000173785.3 uc057rhk.1  uc057rhk.1 
ENST00000173898.12 TRO ENST00000173898.12 Homo sapiens trophinin (TRO), transcript variant 6, mRNA. (from RefSeq NM_001039705) ENST00000173898.1 ENST00000173898.10 ENST00000173898.11 ENST00000173898.2 ENST00000173898.3 ENST00000173898.4 ENST00000173898.5 ENST00000173898.6 ENST00000173898.7 ENST00000173898.8 ENST00000173898.9 KIAA1114 MAGED3 NM_001039705 Q12816 Q96SX2 Q9NU89 Q9UPN8 TROP_HUMAN uc004dtq.1 uc004dtq.2 uc004dtq.3 uc004dtq.4 uc004dtq.5 uc004dtq.6 uc004dtq.7 This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion. Directly binds bystin, and indirectly tastin. Q13895:BYSL; NbExp=4; IntAct=EBI-950001, EBI-358049; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12816-1; Sequence=Displayed; Name=2; IsoId=Q12816-2; Sequence=VSP_043513, VSP_043514; Note=No experimental confirmation available; Strong expression at implantation sites. Found in the placenta from the sixth week of pregnancy. Was localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the level decreased and then disappeared from placental villi. Also found in macrophages. Contains 1 MAGE domain. Sequence=AAA79334.2; Type=Erroneous initiation; Sequence=BAA83066.3; Type=Erroneous initiation; protein binding cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules embryo implantation intrinsic component of plasma membrane  uc004dtq.1 uc004dtq.2 uc004dtq.3 uc004dtq.4 uc004dtq.5 uc004dtq.6 uc004dtq.7 
ENST00000174618.5 MNT ENST00000174618.5 Homo sapiens MAX network transcriptional repressor (MNT), mRNA. (from RefSeq NM_020310) A8K6D1 BHLHD3 D3DTI7 ENST00000174618.1 ENST00000174618.2 ENST00000174618.3 ENST00000174618.4 MNT_HUMAN NM_020310 Q1ED38 Q99583 ROX uc002fur.1 uc002fur.2 uc002fur.3 uc002fur.4 uc002fur.5 The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC117563.1, X96401.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000174618.5/ ENSP00000174618.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer with MAX. Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity transcription corepressor activity nucleus nucleoplasm regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development cell aging negative regulation of cell proliferation protein dimerization activity regulation of cell cycle positive regulation of nucleic acid-templated transcription negative regulation of apoptotic signaling pathway  uc002fur.1 uc002fur.2 uc002fur.3 uc002fur.4 uc002fur.5 
ENST00000175091.5 LAPTM4A ENST00000175091.5 Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA. (from RefSeq NM_014713) ENST00000175091.1 ENST00000175091.2 ENST00000175091.3 ENST00000175091.4 NM_014713 Q6IBP4 Q6IBP4_HUMAN hCG_32086 uc002rdm.1 uc002rdm.2 uc002rdm.3 uc002rdm.4 This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: ERR279841.1653.1, BC003158.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2149178 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000175091.5/ ENSP00000175091.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## membrane integral component of membrane  uc002rdm.1 uc002rdm.2 uc002rdm.3 uc002rdm.4 
ENST00000175238.10 ADAM7 ENST00000175238.10 Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. (from RefSeq NM_003817) A8K8X7 ADAM7_HUMAN ENST00000175238.1 ENST00000175238.2 ENST00000175238.3 ENST00000175238.4 ENST00000175238.5 ENST00000175238.6 ENST00000175238.7 ENST00000175238.8 ENST00000175238.9 GP83 NM_003817 O75959 Q9H2U9 uc003xeb.1 uc003xeb.2 uc003xeb.3 uc003xeb.4 This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]. ##Evidence-Data-START## Transcript exon combination :: AF215824.1, GQ891358.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2153427, SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000175238.10/ ENSP00000175238.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May play an important role in male reproduction including sperm maturation and gonadotrope function. This is a non catalytic metalloprotease-like protein (By similarity). Membrane; Single-pass type I membrane protein. Not detected in healthy melanocytes. Expressed in melanoma cells. Note=Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis. Contains 1 disintegrin domain. Contains 1 peptidase M12B domain. endopeptidase activity metalloendopeptidase activity plasma membrane proteolysis metallopeptidase activity membrane integral component of membrane  uc003xeb.1 uc003xeb.2 uc003xeb.3 uc003xeb.4 
ENST00000175506.8 ASNS ENST00000175506.8 ATP + L-aspartate + L-glutamine + H(2)O = AMP + diphosphate + L-asparagine + L-glutamate. (from UniProt P08243) A4D1I8 ASNS_HUMAN BC008723 D6W5R3 ENST00000175506.1 ENST00000175506.2 ENST00000175506.3 ENST00000175506.4 ENST00000175506.5 ENST00000175506.6 ENST00000175506.7 P08184 P08243 Q15666 Q549T9 Q96HD0 TS11 uc003uou.1 uc003uou.2 uc003uou.3 uc003uou.4 uc003uou.5 ATP + L-aspartate + L-glutamine + H(2)O = AMP + diphosphate + L-asparagine + L-glutamate. Amino-acid biosynthesis; L-asparagine biosynthesis; L- asparagine from L-aspartate (L-Gln route): step 1/1. Contains 1 asparagine synthetase domain. Contains 1 glutamine amidotransferase type-2 domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ASNSID44323ch7q21.html"; nucleotide binding liver development asparagine synthase (glutamine-hydrolyzing) activity protein binding ATP binding cytosol cellular amino acid metabolic process asparagine biosynthetic process glutamine metabolic process cellular amino acid biosynthetic process response to light stimulus response to mechanical stimulus response to toxic substance ligase activity response to methotrexate response to nutrient levels response to follicle-stimulating hormone cellular response to hormone stimulus PERK-mediated unfolded protein response cellular response to glucose starvation protein homodimerization activity negative regulation of apoptotic process response to amino acid positive regulation of mitotic cell cycle cofactor binding L-asparagine biosynthetic process  uc003uou.1 uc003uou.2 uc003uou.3 uc003uou.4 uc003uou.5 
ENST00000175756.10 PTPN18 ENST00000175756.10 Homo sapiens protein tyrosine phosphatase non-receptor type 18 (PTPN18), transcript variant 1, mRNA. (from RefSeq NM_014369) B4E1E6 BDP1 ENST00000175756.1 ENST00000175756.2 ENST00000175756.3 ENST00000175756.4 ENST00000175756.5 ENST00000175756.6 ENST00000175756.7 ENST00000175756.8 ENST00000175756.9 NM_014369 PTN18_HUMAN Q53P42 Q99952 uc002trc.1 uc002trc.2 uc002trc.3 uc002trc.4 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. Interacts with PSTPIP1 (By similarity). Nucleus (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99952-1; Sequence=Displayed; Name=2; IsoId=Q99952-2; Sequence=VSP_043073; Note=No experimental confirmation available; Expressed in brain, colon and several tumor- derived cell lines. Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily. Contains 1 tyrosine-protein phosphatase domain. blastocyst formation phosphoprotein phosphatase activity protein tyrosine phosphatase activity non-membrane spanning protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm cytosol protein dephosphorylation dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation ERBB2 signaling pathway cellular response to cytokine stimulus negative regulation of ERBB signaling pathway  uc002trc.1 uc002trc.2 uc002trc.3 uc002trc.4 
ENST00000176183.6 DRD4 ENST00000176183.6 Homo sapiens dopamine receptor D4 (DRD4), mRNA. (from RefSeq NM_000797) B0M0J7 DRD4_HUMAN ENST00000176183.1 ENST00000176183.2 ENST00000176183.3 ENST00000176183.4 ENST00000176183.5 NM_000797 P21917 Q7Z7Q5 Q8NGM5 uc001lqp.1 uc001lqp.2 uc001lqp.3 uc001lqp.4 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU432112.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152568, SAMEA2159931 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000176183.6/ ENSP00000176183.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Its activity is mediated by G proteins which inhibit adenylyl cyclase. Forms homo- and heterooligomers with DRD2. D4.7 allele exhibits higher affinity for homodimers compared to DRD2 heterodimers, while alleles D42. and 4.4 have similar affinities for both. The interaction with DRD2 may modulate agonist-induced downstream signaling. Interacts with CLIC6 (By similarity) and GPRASP1. May interact with ADORA2A. Interacts with KLHL12. Cell membrane; Multi-pass membrane protein. Polyubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex: polyubiquitination does not lead to degradation of DRD4 protein. The number of repeats of 16 amino acids in the third cytoplasmic loop is highly polymorphic and varies among different alleles. Alleles corresponding in size to a 2 (D4.2), 3 (D4.3), 4 (D4.4), 5 (D4.5), 6 (D4.6), 7 (D4.7) and 9 (D4.9) repeats have been described. The sequence shown is that of allele D4.7. The polymorphic repeat sequence has little influence on DRD4-binding profiles and might not be essential for G protein interaction. Belongs to the G-protein coupled receptor 1 family. Sequence=AAL58637.1; Type=Erroneous gene model prediction; activation of MAPK activity dopamine neurotransmitter receptor activity, coupled via Gi/Go behavioral fear response synaptic transmission, dopaminergic response to amphetamine G-protein coupled receptor activity dopamine neurotransmitter receptor activity G-protein coupled serotonin receptor activity protein binding plasma membrane integral component of plasma membrane cellular calcium ion homeostasis signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-inhibiting dopamine receptor signaling pathway dopamine receptor signaling pathway chemical synaptic transmission drug binding adult locomotory behavior potassium channel regulator activity membrane integral component of membrane SH3 domain binding dendrite neurotransmitter receptor activity positive regulation of sodium:proton antiporter activity positive regulation of kinase activity response to histamine social behavior dopamine binding regulation of dopamine metabolic process dopamine metabolic process fear response regulation of circadian rhythm identical protein binding metal ion binding behavioral response to cocaine behavioral response to ethanol rhythmic process arachidonic acid secretion negative regulation of protein secretion epinephrine binding norepinephrine binding positive regulation of dopamine uptake involved in synaptic transmission inhibitory postsynaptic potential postsynapse glutamatergic synapse negative regulation of voltage-gated calcium channel activity  uc001lqp.1 uc001lqp.2 uc001lqp.3 uc001lqp.4 
ENST00000176195.4 SCT ENST00000176195.4 Homo sapiens secretin (SCT), mRNA. (from RefSeq NM_021920) ENST00000176195.1 ENST00000176195.2 ENST00000176195.3 NM_021920 P09683 SECR_HUMAN uc001lqo.1 uc001lqo.2 uc001lqo.3 This gene encodes a member of the glucagon family of peptides. The encoded preproprotein is secreted by endocrine S cells in the proximal small intestinal mucosa as a prohormone, then proteolytically processed to generate the mature peptide hormone. The release of this active peptide hormone is stimulated by either fatty acids or acidic pH in the duodenum. This hormone stimulates the secretion of bile and bicarbonate in the duodenum, pancreatic and biliary ducts. [provided by RefSeq, Feb 2016]. CCDS Note: No human mRNA or EST accessions have been deposited in public databases to support this CCDS, but the gene, transcript and protein have been well-characterized in the literature, e.g., PMIDs:2315322, 12160732, 15706223 and 16888198. Secretin proteins in other species also support this CCDS. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HY019819.1, HY055530.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2144835 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000176195.4/ ENSP00000176195.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Stimulates formation of NaHCO(3)-rich pancreatic juice and secretion of NaHCO(3)-rich bile and inhibits HCl production by the stomach. Secreted. Belongs to the glucagon family. Name=Wikipedia; Note=Secretin entry; URL="http://en.wikipedia.org/wiki/Secretin"; G-protein coupled receptor binding diet induced thermogenesis receptor binding hormone activity cellular_component extracellular region extracellular space cell G-protein coupled receptor signaling pathway brain development cellular water homeostasis hippocampus development pancreatic juice secretion response to nutrient levels regulation of appetite positive regulation of cAMP-mediated signaling digestive hormone activity protein N-terminus binding regulation of synaptic plasticity embryonic digestive tract development positive regulation of lipid catabolic process positive regulation of pancreatic juice secretion positive regulation of somatostatin secretion negative regulation of gastrin-induced gastric acid secretion  uc001lqo.1 uc001lqo.2 uc001lqo.3 
ENST00000176643.11 ALDH3A2 ENST00000176643.11 Homo sapiens aldehyde dehydrogenase 3 family member A2 (ALDH3A2), transcript variant 2, mRNA. (from RefSeq NM_000382) AL3A2_HUMAN ALDH10 ENST00000176643.1 ENST00000176643.10 ENST00000176643.2 ENST00000176643.3 ENST00000176643.4 ENST00000176643.5 ENST00000176643.6 ENST00000176643.7 ENST00000176643.8 ENST00000176643.9 FALDH NM_000382 P51648 Q6I9T3 Q93011 Q96J37 uc002gwb.1 uc002gwb.2 uc002gwb.3 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length. Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH. Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51648-1; Sequence=Displayed; Name=2; IsoId=P51648-2; Sequence=VSP_001283; Defects in ALDH3A2 are the cause of Sjoegren-Larsson syndrome (SLS) [MIM:270200]. SLS is an autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis (increased keratinization). Ichthyosis is usually evident at birth, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. Belongs to the aldehyde dehydrogenase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDH3A2"; fatty acid alpha-oxidation 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity protein binding peroxisome peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane cellular aldehyde metabolic process lipid metabolic process fatty acid metabolic process sesquiterpenoid metabolic process central nervous system development peripheral nervous system development epidermis development membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor sphingolipid biosynthetic process organelle membrane phytol metabolic process protein homodimerization activity intracellular membrane-bounded organelle glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity hexadecanal metabolic process long-chain-alcohol oxidase activity long-chain-aldehyde dehydrogenase activity medium-chain-aldehyde dehydrogenase activity oxidation-reduction process  uc002gwb.1 uc002gwb.2 uc002gwb.3 
ENST00000176763.10 STK10 ENST00000176763.10 Homo sapiens serine/threonine kinase 10 (STK10), mRNA. (from RefSeq NM_005990) A6ND35 B2R8F5 B3KMY1 ENST00000176763.1 ENST00000176763.2 ENST00000176763.3 ENST00000176763.4 ENST00000176763.5 ENST00000176763.6 ENST00000176763.7 ENST00000176763.8 ENST00000176763.9 LOK NM_005990 O94804 Q6NSK0 Q9UIW4 STK10_HUMAN uc003mbo.1 uc003mbo.2 uc003mbo.3 This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.134568.1, BC070077.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000176763.10/ ENSP00000176763.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo. ATP + a protein = ADP + a phosphoprotein. Inhibited by the pyrrole-indolinone inhibitor SU11274 (K00593): intercalates between the ATP-binding Lys-65 and alpha-C glutamate (Glu-81), resulting in a partial disordering of the lysine side chain. Also specifically inhibited by erlotinib. Slightly inhibited by gefitinib. Homodimer; homodimerization is required for activation segment autophosphorylation. Cell membrane; Peripheral membrane protein. Highly expressed in rapidly proliferating tissues (spleen, placenta, and peripheral blood leukocytes). Also expressed in brain, heart, skeletal muscle, colon, thymus, kidney, liver, small intestine and lung. Autophosphorylates following homodimerization, leading to activation of the protein. Defects in STK10 may be a cause of testicular germ cell tumor (TGCT) [MIM:273300]. A common solid malignancy in males. Germ cell tumors of the testis constitute 95% of all testicular neoplasms. Inhibition by erlotinib, an orally administered EGFR tyrosine kinase inhibitor used for treatment, enhances STK10- dependent lymphocytic responses, possibly leading to the aggravation of skin inflammation observed upon treatment by erlotinib (PubMed:21606217). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Contains 1 protein kinase domain. Sequence=BAG51143.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm plasma membrane protein phosphorylation cell cycle membrane kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation activation of protein kinase activity specific granule membrane identical protein binding protein homodimerization activity neutrophil degranulation protein autophosphorylation extracellular exosome lymphocyte aggregation regulation of lymphocyte migration  uc003mbo.1 uc003mbo.2 uc003mbo.3 
ENST00000177648.13 ALPK1 ENST00000177648.13 Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. (from UniProt Q96QP1) ALPK1_HUMAN BX648798 ENST00000177648.1 ENST00000177648.10 ENST00000177648.11 ENST00000177648.12 ENST00000177648.2 ENST00000177648.3 ENST00000177648.4 ENST00000177648.5 ENST00000177648.6 ENST00000177648.7 ENST00000177648.8 ENST00000177648.9 KIAA1527 LAK Q68CI9 Q6P9F9 Q6ZNK4 Q96QP1 Q9P201 uc003ian.1 uc003ian.2 uc003ian.3 uc003ian.4 uc003ian.5 Kinase that recognizes phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. Highly expressed in liver. Belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily. Contains 1 alpha-type protein kinase domain. Sequence=BAC85140.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC85140.1; Type=Frameshift; Positions=208, 1022; Sequence=BAC85140.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BC060780; Type=Frameshift; Positions=1044; immune system process cytoplasmic pattern recognition receptor signaling pathway protein serine/threonine kinase activity protein binding ATP binding cytoplasm cytosol protein phosphorylation kinase activity phosphorylation transferase activity positive regulation of I-kappaB kinase/NF-kappaB signaling innate immune response monosaccharide binding  uc003ian.1 uc003ian.2 uc003ian.3 uc003ian.4 uc003ian.5 
ENST00000177694.2 TBX21 ENST00000177694.2 Homo sapiens T-box transcription factor 21 (TBX21), mRNA. (from RefSeq NM_013351) ENST00000177694.1 NM_013351 Q9UL17 TBET TBLYM TBX21_HUMAN uc002ilv.1 uc002ilv.2 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF093098.1, BC039739.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000177694.2/ ENSP00000177694.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcription factor that controls the expression of the TH1 cytokine, interferon-gamma. Initiates TH1 lineage development from naive TH precursor cells both by activating TH1 genetic programs and by repressing the opposing TH2 programs. Nucleus. T-cell specific. Genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps and aspirin intolerance (ANPAI) [MIM:208550]. A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities. Contains 1 T-box DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification heart looping DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development response to virus positive regulation of gene expression T cell differentiation negative regulation of interleukin-2 production neuronal cell body proteasome-mediated ubiquitin-dependent protein catabolic process sequence-specific DNA binding transcription regulatory region DNA binding regulation of T cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of isotype switching to IgG isotypes regulation of immune response cellular response to organic substance lymphocyte migration negative regulation of T-helper 17 cell differentiation negative regulation of T-helper 17 cell lineage commitment negative regulation of T-helper 2 cell cytokine production  uc002ilv.1 uc002ilv.2 
ENST00000177742.7 MRPS34 ENST00000177742.7 Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001300900) C9JJ19 C9JJ19_HUMAN ENST00000177742.1 ENST00000177742.2 ENST00000177742.3 ENST00000177742.4 ENST00000177742.5 ENST00000177742.6 NM_001300900 uc021taj.1 uc021taj.2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. structural constituent of ribosome mitochondrion mitochondrial translation  uc021taj.1 uc021taj.2 
ENST00000178638.8 CA12 ENST00000178638.8 Homo sapiens carbonic anhydrase 12 (CA12), transcript variant 1, mRNA. (from RefSeq NM_001218) CAH12_HUMAN ENST00000178638.1 ENST00000178638.2 ENST00000178638.3 ENST00000178638.4 ENST00000178638.5 ENST00000178638.6 ENST00000178638.7 NM_001218 O43570 Q53YE5 Q9BWG2 uc002amc.1 uc002amc.2 uc002amc.3 uc002amc.4 uc002amc.5 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]. Reversible hydration of carbon dioxide. H(2)CO(3) = CO(2) + H(2)O. Zinc. Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA), benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4- carboxyethylbenzene-sulfonamide ethyl ester, 4-(acetyl-2- aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium salt). Kinetic parameters: KM=12.0 mM for CO(2); Homodimer. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43570-1; Sequence=Displayed; Name=2; IsoId=O43570-2; Sequence=VSP_000772; Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis. Defects in CA12 are the cause of hyperchlorhidrosis isolated (HCHLH) [MIM:143860]. HCHLH is a disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. Belongs to the alpha-carbonic anhydrase family. carbonate dehydratase activity plasma membrane zinc ion binding bicarbonate transport membrane integral component of membrane lyase activity metal ion binding chloride ion homeostasis  uc002amc.1 uc002amc.2 uc002amc.3 uc002amc.4 uc002amc.5 
ENST00000178640.10 MAP2K5 ENST00000178640.10 Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA. (from RefSeq NM_145160) B4DE43 ENST00000178640.1 ENST00000178640.2 ENST00000178640.3 ENST00000178640.4 ENST00000178640.5 ENST00000178640.6 ENST00000178640.7 ENST00000178640.8 ENST00000178640.9 MEK5 MKK5 MP2K5_HUMAN NM_145160 PRKMK5 Q13163 Q92961 Q92962 uc002aqu.1 uc002aqu.2 uc002aqu.3 uc002aqu.4 uc002aqu.5 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]. Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and angiogenesis. ATP + a protein = ADP + a phosphoprotein. Magnesium. Interacts with PARD6A, MAP3K3 and MAPK7. Forms a complex with SQSTM1 and PRKCZ or PRKCI (By similarity). Interacts with Yersinia yopJ. P62993:GRB2; NbExp=2; IntAct=EBI-307294, EBI-401755; Q13164:MAPK7; NbExp=2; IntAct=EBI-307294, EBI-1213983; Event=Alternative splicing; Named isoforms=4; Name=B; IsoId=Q13163-1; Sequence=Displayed; Name=A; IsoId=Q13163-2; Sequence=VSP_021825; Name=C; IsoId=Q13163-3; Sequence=VSP_021825, VSP_021826; Note=Incomplete sequence; Name=4; IsoId=Q13163-4; Sequence=VSP_043333; Note=No experimental confirmation available; Expressed in many adult tissues. Abundant in heart and skeletal muscle. Binds MAP3K2/MAP3K3 and MAPK7 via non-overlapping residues of the OPR domain. This domain also mediates interactions with SQSTM1 and PARD6A (By similarity). Activated by phosphorylation on Ser/Thr by MAP kinase kinase kinases (By similarity). Yersinia yopJ may acetylate Ser/Thr residues, preventing phosphorylation and activation, thus blocking the MAPK signaling pathway. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. Contains 1 OPR domain. Contains 1 protein kinase domain. negative regulation of transcription from RNA polymerase II promoter MAPK cascade nucleotide binding activation of MAPK activity protein kinase activity protein serine/threonine kinase activity MAP kinase kinase activity protein tyrosine kinase activity protein binding ATP binding nucleus cytoplasm spindle cytosol protein phosphorylation signal transduction heart development kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation signal transduction by protein phosphorylation positive regulation of cell growth negative regulation of NF-kappaB transcription factor activity activation of protein kinase activity negative regulation of heterotypic cell-cell adhesion negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of interleukin-8 biosynthetic process positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of epithelial cell proliferation positive regulation of protein metabolic process negative regulation of response to cytokine stimulus ERK5 cascade cellular response to growth factor stimulus cellular response to laminar fluid shear stress negative regulation of cell migration involved in sprouting angiogenesis negative regulation of chemokine (C-X-C motif) ligand 2 production negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  uc002aqu.1 uc002aqu.2 uc002aqu.3 uc002aqu.4 uc002aqu.5 
ENST00000179259.6 TIGAR ENST00000179259.6 Homo sapiens TP53 induced glycolysis regulatory phosphatase (TIGAR), mRNA. (from RefSeq NM_020375) B2R840 C12orf5 ENST00000179259.1 ENST00000179259.2 ENST00000179259.3 ENST00000179259.4 ENST00000179259.5 NM_020375 Q9NQ88 TIGAR_HUMAN uc001qmp.1 uc001qmp.2 uc001qmp.3 uc001qmp.4 uc001qmp.5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP201817.1, SRR1803614.162694.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000179259.6/ ENSP00000179259.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Fructose-bisphosphatase hydrolyzing fructose-2,6- bisphosphate as well as fructose-1,6-bisphosphate. Inhibits glycolysis by reducing cellular levels of fructose-2,6- bisphosphate. May protect cells against reactive oxygen species and against apoptosis induced by tp53. Beta-D-fructose 2,6-bisphosphate + H(2)O = D- fructose 6-phosphate + phosphate. Monomer (By similarity). Rapidly up-regulated by p53/TP53. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the phosphoglycerate mutase family. Not expected to have any kinase activity. response to ischemia catalytic activity bisphosphoglycerate 2-phosphatase activity fructose-2,6-bisphosphate 2-phosphatase activity protein binding intracellular nucleus cytoplasm mitochondrion mitochondrial outer membrane cytosol fructose 2,6-bisphosphate metabolic process autophagy apoptotic process cellular response to DNA damage stimulus response to xenobiotic stimulus response to gamma radiation positive regulation of cardiac muscle cell apoptotic process dephosphorylation hydrolase activity fructose 1,6-bisphosphate metabolic process negative regulation of programmed cell death regulation of pentose-phosphate shunt positive regulation of DNA repair negative regulation of glycolytic process intestinal epithelial cell development cellular response to cobalt ion cellular response to hypoxia negative regulation of neuron death negative regulation of macromitophagy regulation of response to DNA damage checkpoint signaling positive regulation of hexokinase activity negative regulation of glucose catabolic process to lactate via pyruvate negative regulation of reactive oxygen species metabolic process  uc001qmp.1 uc001qmp.2 uc001qmp.3 uc001qmp.4 uc001qmp.5 
ENST00000180166.6 FGF20 ENST00000180166.6 Homo sapiens fibroblast growth factor 20 (FGF20), mRNA. (from RefSeq NM_019851) B2RPH5 ENST00000180166.1 ENST00000180166.2 ENST00000180166.3 ENST00000180166.4 ENST00000180166.5 FGF20_HUMAN NM_019851 Q9NP95 uc003wxc.1 uc003wxc.2 uc003wxc.3 The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.607830.1, AB044277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145245, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000180166.6/ ENSP00000180166.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Neurotrophic factor that regulates central nervous development and function. Homodimer. Interacts with FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Secreted. Predominantly expressed in the cerebellum. Belongs to the heparin-binding growth factors family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf20/"; MAPK cascade receptor binding fibroblast growth factor receptor binding extracellular region signal transduction cell-cell signaling growth factor activity positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway regulation of dopamine secretion cell differentiation heparan sulfate proteoglycan binding negative regulation of neuron apoptotic process regulation of neuron differentiation positive regulation of protein kinase B signaling regulation of cardiac muscle cell proliferation inner ear receptor cell differentiation positive regulation of ERK1 and ERK2 cascade receptor-receptor interaction positive regulation of dopaminergic neuron differentiation  uc003wxc.1 uc003wxc.2 uc003wxc.3 
ENST00000180173.10 MTMR7 ENST00000180173.10 Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. (from RefSeq NM_004686) A1L4K9 B4DG87 ENST00000180173.1 ENST00000180173.2 ENST00000180173.3 ENST00000180173.4 ENST00000180173.5 ENST00000180173.6 ENST00000180173.7 ENST00000180173.8 ENST00000180173.9 MTMR7_HUMAN NM_004686 Q68DX4 Q9Y216 uc003wxm.1 uc003wxm.2 uc003wxm.3 uc003wxm.4 uc003wxm.5 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.71939.1, SRR1660803.76648.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000180173.10/ ENSP00000180173.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable). Interacts with MTMR6, MTMR8 and MTMR9. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y216-1; Sequence=Displayed; Name=2; IsoId=Q9Y216-2; Sequence=VSP_017000, VSP_017001; Expressed specifically in brain. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 myotubularin phosphatase domain. phosphatidylinositol-3-phosphatase activity protein tyrosine phosphatase activity protein binding cytoplasm cytosol protein dephosphorylation phosphatidylinositol biosynthetic process endomembrane system membrane dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation phosphatidylinositol phosphate phosphatase activity  uc003wxm.1 uc003wxm.2 uc003wxm.3 uc003wxm.4 uc003wxm.5 
ENST00000181383.10 CPB2 ENST00000181383.10 Homo sapiens carboxypeptidase B2 (CPB2), transcript variant 1, mRNA. (from RefSeq NM_001872) A8K464 CBPB2_HUMAN ENST00000181383.1 ENST00000181383.2 ENST00000181383.3 ENST00000181383.4 ENST00000181383.5 ENST00000181383.6 ENST00000181383.7 ENST00000181383.8 ENST00000181383.9 NM_001872 Q15114 Q5T9K1 Q5T9K2 Q96IY4 Q9P2Y6 uc285kvt.1 uc285kvt.2 Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down- regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin. Release of C-terminal Arg and Lys from a polypeptide. Binds 1 zinc ion per subunit. TAFI/CPB2 is unique among carboxypeptidases in that it spontaneously inactivates with a short half-life, a property that is crucial for its role in controlling blood clot lysis. The zymogen is stabilized by interactions with the activation peptide. Release of the activation peptide increases a dynamic flap mobility and in time this leads to conformational changes that disrupt the catalytic site and expose a cryptic thrombin-cleavage site present at Arg-324. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96IY4-1; Sequence=Displayed; Name=2; IsoId=Q96IY4-2; Sequence=VSP_013446, VSP_013447; Plasma; synthesized in the liver. N-glycosylated. N-glycan at Asn-108: Hex5HexNAc4. Belongs to the peptidase M14 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cpb2/"; positive regulation of extracellular matrix constituent secretion carboxypeptidase activity metallocarboxypeptidase activity extracellular region extracellular space cell proteolysis blood coagulation hemostasis peptidase activity metallopeptidase activity zinc ion binding response to heat negative regulation of plasminogen activation hydrolase activity regulation of complement activation response to drug fibrinolysis metal ion binding negative regulation of fibrinolysis extracellular exosome cellular response to glucose stimulus liver regeneration negative regulation of hepatocyte proliferation  uc285kvt.1 uc285kvt.2 
ENST00000181796.7 FAM107B ENST00000181796.7 Homo sapiens family with sequence similarity 107 member B (FAM107B), transcript variant 2, mRNA. (from RefSeq NM_031453) A8K1P4 C10orf45 D3DRT2 ENST00000181796.1 ENST00000181796.2 ENST00000181796.3 ENST00000181796.4 ENST00000181796.5 ENST00000181796.6 F107B_HUMAN NM_031453 Q5T9K7 Q5T9K8 Q6ZSI4 Q9H098 uc001ina.1 uc001ina.2 uc001ina.3 uc001ina.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H098-1; Sequence=Displayed; Name=2; IsoId=Q9H098-2; Sequence=VSP_037527; Note=No experimental confirmation available; Belongs to the FAM107 family.  uc001ina.1 uc001ina.2 uc001ina.3 uc001ina.4 
ENST00000181839.10 CDK13 ENST00000181839.10 Homo sapiens cyclin dependent kinase 13 (CDK13), transcript variant 1, mRNA. (from RefSeq NM_003718) CDC2L CDC2L5 CDK13_HUMAN CHED ENST00000181839.1 ENST00000181839.2 ENST00000181839.3 ENST00000181839.4 ENST00000181839.5 ENST00000181839.6 ENST00000181839.7 ENST00000181839.8 ENST00000181839.9 KIAA1791 NM_003718 Q14004 Q53G78 Q6DKQ9 Q75MH4 Q75MH5 Q96JN4 Q9H4A0 Q9H4A1 Q9UDR4 uc003thh.1 uc003thh.2 uc003thh.3 uc003thh.4 uc003thh.5 uc003thh.6 uc003thh.7 The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]. Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys- 51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef. ATP + [DNA-directed RNA polymerase] = ADP + [DNA-directed RNA polymerase] phosphate. ATP + a protein = ADP + a phosphoprotein. Interacts with CCNL1 and CCNL2 (By similarity). Interacts with C1QBP. Interacts with HIV-1 Tat. Nucleus speckle. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14004-1; Sequence=Displayed; Name=2; IsoId=Q14004-2; Sequence=VSP_013579; Expressed in fetal brain, liver, muscle and in adult brain. Also expressed in neuroblastoma and glioblastoma tumors. Phosphorylated upon DNA damage, probably by ATM or ATR. Modified_positions=103; Note=Edited at about 88%. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Contains 1 protein kinase domain. Sequence=AAA58424.1; Type=Frameshift; Positions=1006; Sequence=AAS07490.1; Type=Erroneous gene model prediction; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc2l5/"; nucleotide binding cyclin-dependent protein kinase holoenzyme complex alternative mRNA splicing, via spliceosome nuclear chromatin cyclin K-CDK13 complex RNA binding protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding extracellular region extracellular space nucleus nucleoplasm chromosome Golgi apparatus cytosol transcription elongation from RNA polymerase II promoter mRNA processing protein phosphorylation regulation of mitotic nuclear division multicellular organism development cyclin/CDK positive transcription elongation factor complex transcription factor binding positive regulation of cell proliferation RNA polymerase II carboxy-terminal domain kinase activity RNA splicing viral process kinase activity phosphorylation nuclear speck transferase activity protein kinase binding nuclear cyclin-dependent protein kinase holoenzyme complex hemopoiesis cyclin binding positive regulation of transcription elongation from RNA polymerase II promoter neutrophil degranulation transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter phosphorylation of RNA polymerase II C-terminal domain ficolin-1-rich granule lumen negative regulation of stem cell differentiation  uc003thh.1 uc003thh.2 uc003thh.3 uc003thh.4 uc003thh.5 uc003thh.6 uc003thh.7 
ENST00000182290.9 TSPAN32 ENST00000182290.9 Homo sapiens tetraspanin 32 (TSPAN32), mRNA. (from RefSeq NM_139022) ENST00000182290.1 ENST00000182290.2 ENST00000182290.3 ENST00000182290.4 ENST00000182290.5 ENST00000182290.6 ENST00000182290.7 ENST00000182290.8 NM_139022 PHEMX Q96KX4 Q96QS1 Q9HC50 Q9HC51 Q9Y5U1 TSN32_HUMAN TSSC6 uc001lvy.1 uc001lvy.2 uc001lvy.3 This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Sequence Note: A downstream start codon is selected for this RefSeq based on better conservation with homologs. The use of an alternative upstream start codon, which is present in primate species, would increase the protein length from 320 aa to 355 aa. The presence of a predicted signal anchor for the shorter, but not the longer, protein suggests that the downstream start codon may be preferentially used. The shorter protein is described in PMID 11718897. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY039001.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000182290.9/ ENSP00000182290.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q96QS1-1; Sequence=Displayed; Name=2; IsoId=Q96QS1-2; Sequence=VSP_003932; Name=3; IsoId=Q96QS1-3; Sequence=VSP_003937, VSP_003938; Name=4; IsoId=Q96QS1-4; Sequence=VSP_003932, VSP_003933, VSP_003934; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=5; IsoId=Q96QS1-5; Sequence=VSP_003935, VSP_003936; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed ubiquitously at low levels. High levels of expression are confined to hematopoietic tissues including peripheral blood leukocytes, thymus and spleen. Expressed from early embryogenesis through to adulthood. Belongs to the tetraspanin (TM4SF) family. molecular_function integral component of plasma membrane cytoskeleton organization integrin-mediated signaling pathway cell-cell signaling blood coagulation hemostasis negative regulation of cell proliferation cell surface membrane integral component of membrane negative regulation of myeloid dendritic cell activation defense response to protozoan regulation of defense response to virus integrin alphaIIb-beta3 complex platelet aggregation  uc001lvy.1 uc001lvy.2 uc001lvy.3 
ENST00000182377.8 FAR2 ENST00000182377.8 Homo sapiens fatty acyl-CoA reductase 2 (FAR2), transcript variant 2, mRNA. (from RefSeq NM_018099) ENST00000182377.1 ENST00000182377.2 ENST00000182377.3 ENST00000182377.4 ENST00000182377.5 ENST00000182377.6 ENST00000182377.7 FACR2_HUMAN MLSTD1 NM_018099 Q96K12 Q9H0D5 Q9NVW8 uc001rit.1 uc001rit.2 uc001rit.3 uc001rit.4 uc001rit.5 This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]. Catalyzes the reduction of fatty acyl-CoA to fatty alcohols. The preferred substrates are C16, C18, C18:1 and C18:2 but low activity can be observed with C10-C14 substrates. Hexadecanal + CoA + NADP(+) = hexadecanoyl-CoA + NADPH. Peroxisome membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Note=Peroxisome in cells expressing low levels of the protein. Peroxisome and endoplasmic reticulum in cells expressing high levels of the protein. Belongs to the fatty acyl-CoA reductase family. peroxisome peroxisomal membrane integral component of peroxisomal membrane peroxisomal matrix lipid metabolic process wax biosynthetic process membrane integral component of membrane oxidoreductase activity long-chain fatty-acyl-CoA metabolic process oxidation-reduction process fatty-acyl-CoA reductase (alcohol-forming) activity  uc001rit.1 uc001rit.2 uc001rit.3 uc001rit.4 uc001rit.5 
ENST00000182527.4 TRAM2 ENST00000182527.4 Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA. (from RefSeq NM_012288) A8K6T6 ENST00000182527.1 ENST00000182527.2 ENST00000182527.3 KIAA0057 NM_012288 Q15035 TRAM2_HUMAN uc003paq.1 uc003paq.2 uc003paq.3 uc003paq.4 uc003paq.5 TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D31762.1, SRR1803614.72826.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000182527.4/ ENSP00000182527.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Interacts with SERCA2B and COL1A1. Membrane; Multi-pass membrane protein (Potential). Belongs to the TRAM family. Contains 1 TLC (TRAM/LAG1/CLN8) domain. Sequence=BAA06540.2; Type=Erroneous initiation; protein binding rough endoplasmic reticulum SRP-dependent cotranslational protein targeting to membrane, translocation protein transport membrane integral component of membrane collagen biosynthetic process protein insertion into ER membrane  uc003paq.1 uc003paq.2 uc003paq.3 uc003paq.4 uc003paq.5 
ENST00000183605.10 CLDN18 ENST00000183605.10 Homo sapiens claudin 18 (CLDN18), transcript variant 1, mRNA. (from RefSeq NM_016369) A5PL21 CLD18_HUMAN ENST00000183605.1 ENST00000183605.2 ENST00000183605.3 ENST00000183605.4 ENST00000183605.5 ENST00000183605.6 ENST00000183605.7 ENST00000183605.8 ENST00000183605.9 NM_016369 P56856 Q96PH4 UNQ778/PRO1572 uc003erp.1 uc003erp.2 uc003erp.3 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010]. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium- independent cell-adhesion activity (By similarity). Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=A1; IsoId=P56856-1; Sequence=Displayed; Name=A2; IsoId=P56856-2; Sequence=VSP_001102; Concentrated at the cell-cell borders of epithelial cells. Belongs to the claudin family. structural molecule activity plasma membrane bicellular tight junction membrane integral component of membrane calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules cell junction identical protein binding response to ethanol negative regulation of bone resorption digestive tract development TNFSF11-mediated signaling pathway negative regulation of protein localization to nucleus negative regulation of osteoclast development  uc003erp.1 uc003erp.2 uc003erp.3 
ENST00000184183.8 ROPN1 ENST00000184183.8 Homo sapiens rhophilin associated tail protein 1 (ROPN1), transcript variant 1, mRNA. (from RefSeq NM_017578) D3DN99 ENST00000184183.1 ENST00000184183.2 ENST00000184183.3 ENST00000184183.4 ENST00000184183.5 ENST00000184183.6 ENST00000184183.7 NM_017578 Q9HAT0 Q9UF38 ROP1A_HUMAN ROPN1A uc003eha.1 uc003eha.2 uc003eha.3 uc003eha.4 The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]. Homodimer. Interacts with AKAP3 and RHPN1 (By similarity). May interact with SPA17. Note=In the sperm tail, found in the principal piece and in the cytoplasmic droplet located at the distal end of the midpiece. Inner surface of the fibrous sheath (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HAT0-1; Sequence=Displayed; Name=2; IsoId=Q9HAT0-2; Sequence=VSP_028743, VSP_028744; Note=No experimental confirmation available; Testis specific in adult. Overexpressed in hematologic tumor cells. Expressed in fetal liver. The RIIa domain mediates interaction with AKAP3 (By similarity). 'Ropporin' comes from the Japanese word 'oppo' which means 'tail'. Belongs to the ropporin family. Contains 1 RIIa domain. regulation of protein phosphorylation protein binding nucleus cytoplasm cilium flagellated sperm motility motile cilium identical protein binding cell projection cilium organization sperm capacitation protein localization to cilium  uc003eha.1 uc003eha.2 uc003eha.3 uc003eha.4 
ENST00000184266.3 NDUFB4 ENST00000184266.3 Homo sapiens NADH:ubiquinone oxidoreductase subunit B4 (NDUFB4), transcript variant 1, mRNA. (from RefSeq NM_004547) B2RUY3 B9EJC7 ENST00000184266.1 ENST00000184266.2 NDUB4_HUMAN NM_004547 O95168 uc003edu.1 uc003edu.2 uc003edu.3 uc003edu.4 uc003edu.5 This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95168-1; Sequence=Displayed; Name=2; IsoId=O95168-2; Sequence=VSP_042719; Note=No experimental confirmation available; Belongs to the complex I NDUFB4 subunit family. mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone response to oxidative stress NADH dehydrogenase (ubiquinone) activity membrane integral component of membrane nuclear membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain  uc003edu.1 uc003edu.2 uc003edu.3 uc003edu.4 uc003edu.5 
ENST00000184956.11 HEATR6 ENST00000184956.11 Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. (from RefSeq NM_022070) ABC1 B3KXP3 ENST00000184956.1 ENST00000184956.10 ENST00000184956.2 ENST00000184956.3 ENST00000184956.4 ENST00000184956.5 ENST00000184956.6 ENST00000184956.7 ENST00000184956.8 ENST00000184956.9 HEAT6_HUMAN NM_022070 Q6AI08 Q6MZX1 Q6MZY2 Q8TDM9 Q9H6B3 Q9H6M7 uc002iyk.1 uc002iyk.2 uc002iyk.3 Amplification-dependent oncogene. Amplified in breast cancer cell lines MCF-7 and BT-474. 17q23 region is one of the most commonly amplified regions in breast cancer and therefore may harbor genes important for breast cancer development and progression. Contains 4 HEAT repeats. Sequence=AAL83912.1; Type=Erroneous initiation; Sequence=BAB15229.1; Type=Erroneous initiation; Sequence=BAB15348.1; Type=Erroneous initiation; RNA binding  uc002iyk.1 uc002iyk.2 uc002iyk.3 
ENST00000185150.9 ERLEC1 ENST00000185150.9 Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. (from RefSeq NM_015701) ENST00000185150.1 ENST00000185150.2 ENST00000185150.3 ENST00000185150.4 ENST00000185150.5 ENST00000185150.6 ENST00000185150.7 ENST00000185150.8 NM_015701 V9HWD3 uc002rxl.1 uc002rxl.2 uc002rxl.3 uc002rxl.4 uc002rxl.5 This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011].  uc002rxl.1 uc002rxl.2 uc002rxl.3 uc002rxl.4 uc002rxl.5 
ENST00000185206.12 CLIC5 ENST00000185206.12 Homo sapiens chloride intracellular channel 5 (CLIC5), transcript variant 8, mRNA. (from RefSeq NM_001370650) B3KUF1 CLIC5_HUMAN ENST00000185206.1 ENST00000185206.10 ENST00000185206.11 ENST00000185206.2 ENST00000185206.3 ENST00000185206.4 ENST00000185206.5 ENST00000185206.6 ENST00000185206.7 ENST00000185206.8 ENST00000185206.9 NM_001370650 Q5T4Z0 Q96JT5 Q9BWZ0 Q9NZA1 uc003oxv.1 uc003oxv.2 uc003oxv.3 uc003oxv.4 uc003oxv.5 uc003oxv.6 This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology ##RefSeq-Attributes-END## Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Required for normal formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture. Component of a multimeric complex consisting of several cytoskeletal proteins, including actin, ezrin, alpha-actinin, gelsolin, and IQGAP1. Interacts with AKAP9. Isoform 1: Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Membrane; Single-pass membrane protein. Note=Associates with the cortical actin cytoskeleton. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Isoform 2: Golgi apparatus. Cytoplasm, cytoskeleton, centrosome. Membrane; Single-pass membrane protein. Note=Colocalized with AKAP9 at the Golgi apparatus as well as, to a lesser extent, the centrosome. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Colocalized with podocalyxin in renal glomeruli. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=CLIC5B; IsoId=Q9NZA1-1; Sequence=Displayed; Name=1; Synonyms=CLIC5A; IsoId=Q9NZA1-2; Sequence=VSP_000869, VSP_000870; Note=Ref.1 (AAF66928) sequence is in conflict in position: 12:R->S; Isoform 1 is expressed in renal glomeruli endothelial cells and podocytes (at protein level). Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity). Belongs to the chloride channel CLIC family. Contains 1 GST C-terminal domain. voltage-gated ion channel activity chloride channel activity protein binding cytoplasm Golgi apparatus microtubule organizing center cytoskeleton plasma membrane cell cortex ion transport chloride transport female pregnancy visual perception sensory perception of sound actin cytoskeleton membrane integral component of membrane apical plasma membrane ion transmembrane transport chloride channel complex regulation of ion transmembrane transport response to stimulus extracellular exosome chloride transmembrane transport  uc003oxv.1 uc003oxv.2 uc003oxv.3 uc003oxv.4 uc003oxv.5 uc003oxv.6 
ENST00000186436.10 TMEM131 ENST00000186436.10 Homo sapiens transmembrane protein 131 (TMEM131), mRNA. (from RefSeq NM_015348) ENST00000186436.1 ENST00000186436.2 ENST00000186436.3 ENST00000186436.4 ENST00000186436.5 ENST00000186436.6 ENST00000186436.7 ENST00000186436.8 ENST00000186436.9 KIAA0257 NM_015348 Q92545 RW1 TM131_HUMAN uc002syh.1 uc002syh.2 uc002syh.3 uc002syh.4 uc002syh.5 uc002syh.6 May play a role in the immune response to viral infection (By similarity). Membrane; Multi-pass membrane protein (Potential). Belongs to the TMEM131 family. molecular_function cellular_component biological_process membrane integral component of membrane  uc002syh.1 uc002syh.2 uc002syh.3 uc002syh.4 uc002syh.5 uc002syh.6 
ENST00000187397.8 ARPP21 ENST00000187397.8 Homo sapiens cAMP regulated phosphoprotein 21 (ARPP21), non-coding RNA. (from RefSeq NR_169646) ARP21_HUMAN B4DG96 ENST00000187397.1 ENST00000187397.2 ENST00000187397.3 ENST00000187397.4 ENST00000187397.5 ENST00000187397.6 ENST00000187397.7 NR_169646 Q49AK3 Q49AS6 Q4G0V4 Q6NYC3 Q86V31 Q9UBL0 Q9UF93 TARPP uc003cgb.1 uc003cgb.2 uc003cgb.3 uc003cgb.4 This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. Isoform 2 may act as a competitive inhibitor of calmodulin-dependent enzymes such as calcineurin in neurons (By similarity). Interacts with CALM1 (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=TARPP; IsoId=Q9UBL0-1; Sequence=Displayed; Name=2; Synonyms=ARPP-21; IsoId=Q9UBL0-2; Sequence=VSP_029471, VSP_029472; Name=3; IsoId=Q9UBL0-3; Sequence=VSP_029474, VSP_029476; Name=4; IsoId=Q9UBL0-4; Sequence=VSP_029474, VSP_029475, VSP_029476; Name=5; IsoId=Q9UBL0-5; Sequence=VSP_029469, VSP_029476; Note=No experimental confirmation available; Name=6; IsoId=Q9UBL0-6; Sequence=VSP_029470, VSP_029473; Note=No experimental confirmation available; Isoform 2 is expressed in brain. Isoform 1 is present in immature thymocytes (at protein level). Phosphorylation at Ser-56 favors interaction with CALM1 (By similarity). Isoform 1 is methylated by CARM1 in immature thymocytes (Probable). Contains 1 R3H domain. Contains 1 SUZ domain. molecular_function nucleic acid binding calmodulin binding cellular_component cytoplasm biological_process cellular response to heat  uc003cgb.1 uc003cgb.2 uc003cgb.3 uc003cgb.4 
ENST00000187608.13 CEACAM21 ENST00000187608.13 Homo sapiens CEA cell adhesion molecule 21 (CEACAM21), transcript variant 2, mRNA. (from RefSeq NM_033543) B7WNQ6 CEA21_HUMAN ENST00000187608.1 ENST00000187608.10 ENST00000187608.11 ENST00000187608.12 ENST00000187608.2 ENST00000187608.3 ENST00000187608.4 ENST00000187608.5 ENST00000187608.6 ENST00000187608.7 ENST00000187608.8 ENST00000187608.9 NM_033543 O75296 Q3KPI0 Q6UY47 Q96ER7 UNQ3098/PRO10075 uc002org.1 uc002org.2 uc002org.3 uc002org.4 uc002org.5 Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3KPI0-1; Sequence=Displayed; Name=2; IsoId=Q3KPI0-2; Sequence=VSP_027304; Name=3; IsoId=Q3KPI0-3; Sequence=VSP_027303; Belongs to the immunoglobulin superfamily. CEA family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Sequence=AAC34569.1; Type=Erroneous gene model prediction; membrane integral component of membrane  uc002org.1 uc002org.2 uc002org.3 uc002org.4 uc002org.5 
ENST00000187762.7 TMEM38A ENST00000187762.7 Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. (from RefSeq NM_024074) A8K9P9 ENST00000187762.1 ENST00000187762.2 ENST00000187762.3 ENST00000187762.4 ENST00000187762.5 ENST00000187762.6 NM_024074 Q9H6F2 TM38A_HUMAN uc002nes.1 uc002nes.2 uc002nes.3 uc002nes.4 uc002nes.5 Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity). Homotrimer (By similarity). Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus membrane (By similarity). The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore. Belongs to the TMEM38 family. cation channel activity potassium channel activity nucleus ion transport potassium ion transport endoplasmic reticulum organization regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion release of sequestered calcium ion into cytosol by sarcoplasmic reticulum monovalent inorganic cation transport membrane integral component of membrane sarcoplasmic reticulum nuclear membrane sarcoplasmic reticulum membrane identical protein binding extracellular exosome cellular response to caffeine potassium ion transmembrane transport  uc002nes.1 uc002nes.2 uc002nes.3 uc002nes.4 uc002nes.5 
ENST00000187830.2 PVR ENST00000187830.2 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8W7D4) AK094177 ENST00000187830.1 F8W7D4 F8W7D4_HUMAN uc060zsp.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc060zsp.1 
ENST00000187879.12 ZNF222 ENST00000187879.12 Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 2, mRNA. (from RefSeq NM_013360) ENST00000187879.1 ENST00000187879.10 ENST00000187879.11 ENST00000187879.2 ENST00000187879.3 ENST00000187879.4 ENST00000187879.5 ENST00000187879.6 ENST00000187879.7 ENST00000187879.8 ENST00000187879.9 NM_013360 Q9P1U5 Q9UK12 ZN222_HUMAN uc002oyc.1 uc002oyc.2 uc002oyc.3 uc002oyc.4 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 10 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002oyc.1 uc002oyc.2 uc002oyc.3 uc002oyc.4 
ENST00000187910.7 PSG6 ENST00000187910.7 Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 2, mRNA. (from RefSeq NM_001031850) CGM3 ENST00000187910.1 ENST00000187910.2 ENST00000187910.3 ENST00000187910.4 ENST00000187910.5 ENST00000187910.6 NM_001031850 O75244 PSG10 PSG12 PSG6_HUMAN PSGGB Q00889 Q15224 Q15235 Q549K1 uc002ovg.1 uc002ovg.2 uc002ovg.3 uc002ovg.4 This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. Secreted (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q00889-1; Sequence=Displayed; Name=2; IsoId=Q00889-2; Sequence=VSP_039344; PSBG are produced in high quantity during pregnancy. Belongs to the immunoglobulin superfamily. CEA family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. molecular_function extracellular region female pregnancy  uc002ovg.1 uc002ovg.2 uc002ovg.3 uc002ovg.4 
ENST00000188312.7 ACTR6 ENST00000188312.7 Homo sapiens actin related protein 6 (ACTR6), transcript variant 1, mRNA. (from RefSeq NM_022496) ARP6_HUMAN B3KW37 CDA12 ENST00000188312.1 ENST00000188312.2 ENST00000188312.3 ENST00000188312.4 ENST00000188312.5 ENST00000188312.6 NM_022496 Q9BY39 Q9GZN1 Q9H8H6 uc001thb.1 uc001thb.2 uc001thb.3 uc001thb.4 Cytoplasm, cytoskeleton (By similarity). Belongs to the actin family. ARP6 subfamily. Swr1 complex protein binding nucleus cytoplasm cytoskeleton chromatin remodeling nucleosome binding histone exchange  uc001thb.1 uc001thb.2 uc001thb.3 uc001thb.4 
ENST00000188376.9 SLC25A3 ENST00000188376.9 Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). (from UniProt Q00325) B3KS34 BX647062 ENST00000188376.1 ENST00000188376.2 ENST00000188376.3 ENST00000188376.4 ENST00000188376.5 ENST00000188376.6 ENST00000188376.7 ENST00000188376.8 MPCP_HUMAN OK/SW-cl.48 PHC Q00325 Q7Z7N7 Q96A03 uc001tfm.1 uc001tfm.2 uc001tfm.3 uc001tfm.4 Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). Mitochondrion inner membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q00325-1; Sequence=Displayed; Name=B; IsoId=Q00325-2; Sequence=VSP_003269; Defects in SLC25A3 are a cause of mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]. MPCD is a fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. inorganic phosphate transmembrane transporter activity mitochondrion mitochondrial inner membrane integral component of plasma membrane symporter activity phosphate:proton symporter activity membrane integral component of membrane integral component of mitochondrial inner membrane phosphate ion transmembrane transport macromolecular complex binding extracellular exosome hydrogen ion transmembrane transport  uc001tfm.1 uc001tfm.2 uc001tfm.3 uc001tfm.4 
ENST00000188403.7 NR1H4 ENST00000188403.7 Homo sapiens nuclear receptor subfamily 1 group H member 4 (NR1H4), transcript variant 4, mRNA. (from RefSeq NM_001206992) A1L4K5 B7Z412 B7ZM06 BAR ENST00000188403.1 ENST00000188403.2 ENST00000188403.3 ENST00000188403.4 ENST00000188403.5 ENST00000188403.6 FXR HRR1 NM_001206992 NR1H4_HUMAN Q8NFP5 Q8NFP6 Q92943 Q96RI1 RIP14 uc001ths.1 uc001ths.2 uc001ths.3 This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]. Ligand-activated transcription factor. Receptor for bile acids such as chenodeoxycholic acid, lithocholic acid and deoxycholic acid. Represses the transcription of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) through the induction of NR0B2 or FGF19 expression, via two distinct mechanisms. Activates the intestinal bile acid-binding protein (IBABP). Activates the transcription of bile salt export pump ABCB11 by directly recruiting histone methyltransferase CARM1 to this locus. Heterodimer of NR1H4 and RXR. After activation by agonist binding, interacts with a coactivator, NCOA1 or NCOA2 (By similarity). Interacts with CARM1 and SMARD1. Nucleus (Probable). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96RI1-3; Sequence=Displayed; Name=2; IsoId=Q96RI1-4; Sequence=VSP_003665; Name=3; IsoId=Q96RI1-1; Sequence=VSP_010135; Name=4; IsoId=Q96RI1-2; Sequence=VSP_010135, VSP_003665; Belongs to the nuclear hormone receptor family. NR1 subfamily. Contains 1 nuclear receptor DNA-binding domain. Name=Wikipedia; Note=Farnesoid X receptor entry; URL="http://en.wikipedia.org/wiki/Farnesoid_X_receptor"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding nitrogen catabolite activation of transcription from RNA polymerase II promoter transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cellular glucose homeostasis immune system process DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity transcription coactivator activity transcription corepressor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm nuclear euchromatin regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter lipid metabolic process inflammatory response cell-cell junction assembly Notch signaling pathway multicellular organism development transcription factor binding bile acid metabolic process zinc ion binding negative regulation of tumor necrosis factor-mediated signaling pathway regulation of low-density lipoprotein particle clearance bile acid and bile salt transport ligand-dependent nuclear receptor binding cell differentiation ligand-dependent nuclear receptor transcription coactivator activity intracellular receptor signaling pathway bile acid binding negative regulation of NF-kappaB transcription factor activity negative regulation of interferon-gamma production negative regulation of interleukin-1 production negative regulation of interleukin-2 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production toll-like receptor 4 signaling pathway toll-like receptor 9 signaling pathway regulation of urea metabolic process histone H3-R17 methylation cellular triglyceride homeostasis positive regulation of insulin secretion involved in cellular response to glucose stimulus signaling receptor activity bile acid receptor activity bile acid signaling pathway intracellular bile acid receptor signaling pathway glucose homeostasis cholesterol homeostasis defense response to bacterium negative regulation of apoptotic process negative regulation of I-kappaB kinase/NF-kappaB signaling steroid hormone mediated signaling pathway sequence-specific DNA binding innate immune response positive regulation of transcription from RNA polymerase II promoter positive regulation of insulin receptor signaling pathway metal ion binding retinoid X receptor binding negative regulation of inflammatory response lipid homeostasis fatty acid homeostasis regulation of insulin secretion involved in cellular response to glucose stimulus triglyceride homeostasis regulation of bile acid biosynthetic process negative regulation of bile acid biosynthetic process cellular response to lipopolysaccharide cellular response to fatty acid cellular response to organonitrogen compound negative regulation of monocyte chemotactic protein-1 production interleukin-17 secretion regulation of cholesterol metabolic process RNA polymerase II transcription factor complex chenodeoxycholic acid binding negative regulation of interferon-gamma secretion positive regulation of adipose tissue development negative regulation of tumor necrosis factor secretion positive regulation of phosphatidic acid biosynthetic process positive regulation of glutamate metabolic process positive regulation of ammonia assimilation cycle  uc001ths.1 uc001ths.2 uc001ths.3 
ENST00000188790.9 FAP ENST00000188790.9 Homo sapiens fibroblast activation protein alpha (FAP), transcript variant 1, mRNA. (from RefSeq NM_004460) ENST00000188790.1 ENST00000188790.2 ENST00000188790.3 ENST00000188790.4 ENST00000188790.5 ENST00000188790.6 ENST00000188790.7 ENST00000188790.8 NM_004460 O00199 Q12884 Q53TP5 Q86Z29 Q99998 Q9UID4 SEPR_HUMAN uc002ucd.1 uc002ucd.2 uc002ucd.3 uc002ucd.4 The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. In association with DPP4 is involved in the pericellular proteolysis of the extracellular matrix (ECM), the migration and invasion of endothelial cells into the ECM. May have a role in tissue remodeling during development and wound healing, and may contribute to invasiveness in malignant cancers. Degrades gelatin and heat-denatured type I and type IV collagen, but not native type I or type IV collagen. Does not cleave laminin, fibronectin, fibrin or casein. Homodimer, or heterodimer with DPP4. The monomer is inactive. Cell membrane; Single-pass type II membrane protein. Cell projection, lamellipodium membrane; Single-pass type II membrane protein. Cell projection, invadopodium membrane; Single-pass type II membrane protein. Note=Found in cell surface lamellipodia, invadopodia and on shed vesicles. Colocalized with DPP4 in invadopodia and lamellipodia of migratory activated endothelial cells in collagenous matrix. Colocalized with DPP4 on endothelial cells of capillary-like microvessels but not large vessels within invasive breast ductal carcinoma. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=L; IsoId=Q12884-1; Sequence=Displayed; Note=Major isoform; Name=2; Synonyms=S, Truncated; IsoId=Q12884-2; Sequence=VSP_005367; Fibroblast specific. In fibroblasts at times and sites of tissue remodeling during development, tissue repair, and carcinogenesis. N-glycosylated. The N-terminus may be blocked. Belongs to the peptidase S9B family. angiogenesis protease binding endopeptidase activity metalloendopeptidase activity serine-type endopeptidase activity integrin binding protein binding extracellular region extracellular space cytoplasm plasma membrane focal adhesion proteolysis apoptotic process cell adhesion peptidase activity serine-type peptidase activity dipeptidyl-peptidase activity cell surface regulation of collagen catabolic process negative regulation of extracellular matrix disassembly membrane integral component of membrane hydrolase activity lamellipodium cell junction lamellipodium membrane ruffle membrane protein homodimerization activity cell projection endothelial cell migration apical part of cell basal part of cell protein dimerization activity proteolysis involved in cellular protein catabolic process regulation of fibrinolysis negative regulation of cell proliferation involved in contact inhibition positive regulation of cell cycle arrest invadopodium membrane mitotic cell cycle arrest melanocyte proliferation positive regulation of execution phase of apoptosis melanocyte apoptotic process negative regulation of extracellular matrix organization  uc002ucd.1 uc002ucd.2 uc002ucd.3 uc002ucd.4 
ENST00000189444.11 NFKB2 ENST00000189444.11 Homo sapiens nuclear factor kappa B subunit 2 (NFKB2), transcript variant 2, mRNA. (from RefSeq NM_002502) A8K9D9 D3DR83 ENST00000189444.1 ENST00000189444.10 ENST00000189444.2 ENST00000189444.3 ENST00000189444.4 ENST00000189444.5 ENST00000189444.6 ENST00000189444.7 ENST00000189444.8 ENST00000189444.9 LYT10 NFKB2_HUMAN NM_002502 Q00653 Q04860 Q9BU75 Q9H471 Q9H472 uc001kvd.1 uc001kvd.2 uc001kvd.3 uc001kvd.4 uc001kvd.5 uc001kvd.6 uc001kvd.7 This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF- kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. In a non-canonical activation pathway, the MAP3K14- activated CHUK/IKKA homodimer phosphorylates NFKB2/p100 associated with RelB, inducing its proteolytic processing to NFKB2/p52 and the formation of NF-kappa-B RelB-p52 complexes. The NF-kappa-B heterodimeric RelB-p52 complex is a transcriptional activator. The NF-kappa-B p52-p52 homodimer is a transcriptional repressor. NFKB2 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p100 and generation of p52 by a cotranslational processing. The proteasome-mediated process ensures the production of both p52 and p100 and preserves their independent function. p52 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. p52 and p100 are respectively the minor and major form; the processing of p100 being relatively poor. Isoform p49 is a subunit of the NF-kappa-B protein complex, which stimulates the HIV enhancer in synergy with p65. Component of the NF-kappa-B RelB-p52 complex. Homodimer; component of the NF-kappa-B p52-p52 complex. Component of the NF- kappa-B p65-p52 complex. Component of the NF-kappa-B p52-c-Rel complex. NFKB2/p52 interacts with NFKBIE. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Directly interacts with MEN1. Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=p100; IsoId=Q00653-1; Sequence=Displayed; Name=3; Synonyms=p49; IsoId=Q00653-3; Sequence=VSP_040082, VSP_040083; Note=Ref.1 (CAA43716.1) sequence(s) differ(s) from that shown due to frameshifts in positions 407, 414; Name=4; IsoId=Q00653-4; Sequence=VSP_040084; The C-terminus of p100 might be involved in cytoplasmic retention, inhibition of DNA-binding by p52 homodimers, and/or transcription activation (By similarity). The glycine-rich region (GRR) appears to be a critical element in the generation of p52. While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p52 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing. Subsequent to MAP3K14-dependent serine phosphorylation, p100 polyubiquitination occurs then triggering its proteasome-dependent processing. Constitutive processing is tightly suppressed by its C- terminal processing inhibitory domain, named PID, which contains the death domain. Note=A chromosomal aberration involving NFKB2 is found in a case of B-cell non Hodgkin lymphoma (B-NHL). Translocation t(10;14)(q24;q32) with IGHA1. The resulting oncogene is also called Lyt-10C alpha variant. Note=A chromosomal aberration involving NFKB2 is found in a cutaneous T-cell leukemia (C-TCL) cell line. This rearrangement produces the p80HT gene which encodes for a truncated 80 kDa protein (p80HT). Note=In B-cell leukemia (B-CLL) cell line, LB40 and EB308, can be found after heterogeneous chromosomal aberrations, such as internal deletions. Contains 7 ANK repeats. Contains 1 death domain. Contains 1 RHD (Rel-like) domain. Sequence=CAA43715.1; Type=Frameshift; Positions=456, 458, 470, 900; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NFKB2ID362.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nfkb2/"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding follicular dendritic cell differentiation germinal center formation DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated inflammatory response signal transduction I-kappaB kinase/NF-kappaB signaling aging extracellular matrix organization positive regulation of type I interferon production response to lipopolysaccharide Bcl3/NF-kappaB2 complex response to cytokine NIK/NF-kappaB signaling positive regulation of transcription from RNA polymerase II promoter rhythmic process spleen development positive regulation of NF-kappaB transcription factor activity  uc001kvd.1 uc001kvd.2 uc001kvd.3 uc001kvd.4 uc001kvd.5 uc001kvd.6 uc001kvd.7 
ENST00000189978.10 MUSK ENST00000189978.10 Homo sapiens muscle associated receptor tyrosine kinase (MUSK), transcript variant 2, mRNA. (from RefSeq NM_001166280) ENST00000189978.1 ENST00000189978.2 ENST00000189978.3 ENST00000189978.4 ENST00000189978.5 ENST00000189978.6 ENST00000189978.7 ENST00000189978.8 ENST00000189978.9 MUSK_HUMAN NM_001166280 O15146 Q32MJ8 Q32MJ9 Q5VZW7 Q5VZW8 uc064vai.1 uc064vai.2 This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]. Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity). ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Positively regulated by CK2 (By similarity). Monomer (By similarity). Homodimer (Probable). Interacts with LRP4; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts (via cytoplasmic part) with DOK7 (via IRS- type PTB domain); requires MUSK phosphorylation. Interacts with DVL1 (via DEP domain); the interaction is direct and mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Interacts with PDZRN3; this interaction is enhanced by agrin (By similarity). Interacts with FNTA; the interaction is direct and mediates AGRIN-induced phosphorylation and activation of FNTA (By similarity). Interacts with CSNK2B; mediates regulation by CK2 (By similarity). Interacts (via the cytoplasmic domain) with DNAJA3 (By similarity). Interacts with NSF; may regulate MUSK endocytosis and activity (By similarity). Interacts with CAV3; may regulate MUSK signaling (By similarity). Interacts with RNF31 (By similarity). Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein (Probable). Note=Localizes to the postsynaptic cell membrane of the neuromuscular junction (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O15146-1; Sequence=Displayed; Name=2; IsoId=O15146-2; Sequence=VSP_035958, VSP_035959, VSP_035960; Name=3; IsoId=O15146-3; Sequence=VSP_035959, VSP_035960; Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity). Phosphorylated. Phosphorylation is induced by AGRIN. Autophosphorylation at Tyr-554 is required for interaction with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK. Defects in MUSK is a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]. A postsynaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance. Note=MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction. Belongs to the protein kinase superfamily. Tyr protein kinase family. Contains 1 FZ (frizzled) domain. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain. Sequence=CAH69977.1; Type=Erroneous gene model prediction; Sequence=CAH69978.1; Type=Erroneous gene model prediction; Sequence=CAI17349.1; Type=Erroneous gene model prediction; Sequence=CAI17350.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MUSK"; Name=Wikipedia; Note=MuSK entry; URL="http://en.wikipedia.org/wiki/MuSK_protein"; nucleotide binding positive regulation of protein phosphorylation protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity protein binding ATP binding plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development neuromuscular junction development memory regulation of synaptic growth at neuromuscular junction positive regulation of gene expression positive regulation of neuron projection development positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cell junction cell differentiation neuromuscular junction receptor complex regulation of MAPK cascade positive regulation of MAPK cascade synapse postsynaptic membrane protein autophosphorylation metal ion binding skeletal muscle acetylcholine-gated channel clustering positive regulation of protein geranylgeranylation positive regulation of ERK1 and ERK2 cascade  uc064vai.1 uc064vai.2 
ENST00000190165.3 DMRT3 ENST00000190165.3 Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. (from RefSeq NM_021240) DMRT3_HUMAN DMRTA3 ENST00000190165.1 ENST00000190165.2 NM_021240 Q7LA03 Q7LCH8 Q96SC7 Q9NQL9 Q9NRQ9 uc003zgw.1 uc003zgw.2 uc003zgw.3 uc003zgw.4 May regulate transcription during sexual development (By similarity). Nucleus (Potential). Specifically expressed in testis. Expressed in 4 to 5 weeks embryos. Belongs to the DMRT family. Contains 1 DM DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development sex differentiation adult walking behavior transmission of nerve impulse ventral spinal cord interneuron specification cell differentiation regulation of odontogenesis of dentin-containing tooth sequence-specific DNA binding male sex differentiation metal ion binding protein heterodimerization activity  uc003zgw.1 uc003zgw.2 uc003zgw.3 uc003zgw.4 
ENST00000190611.9 OSBPL6 ENST00000190611.9 Homo sapiens oxysterol binding protein like 6 (OSBPL6), transcript variant 1, mRNA. (from RefSeq NM_032523) B4DTW1 C4AMC0 C4AME4 D3DPF6 D3DPF7 ENST00000190611.1 ENST00000190611.2 ENST00000190611.3 ENST00000190611.4 ENST00000190611.5 ENST00000190611.6 ENST00000190611.7 ENST00000190611.8 NM_032523 ORP6 OSBL6_HUMAN Q4ZG68 Q53T68 Q59H61 Q7Z4Q1 Q8N9T0 Q96SR1 Q9BZF3 uc002ulx.1 uc002ulx.2 uc002ulx.3 uc002ulx.4 uc002ulx.5 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Q9Q2G4:ORF (xeno); NbExp=3; IntAct=EBI-2372709, EBI-6248094; Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9BZF3-1; Sequence=Displayed; Name=2; IsoId=Q9BZF3-2; Sequence=VSP_010013; Name=3; IsoId=Q9BZF3-3; Sequence=VSP_036559, VSP_036561; Name=4; IsoId=Q9BZF3-4; Sequence=VSP_036560; Name=5; IsoId=Q9BZF3-5; Sequence=VSP_036561; Widely expressed. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the OSBP family. Contains 1 PH domain. Sequence=BAB55223.1; Type=Erroneous initiation; Sequence=BAD92135.1; Type=Erroneous initiation; protein binding nucleus nuclear envelope cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane bile acid biosynthetic process lipid transport lipid binding cholesterol binding membrane nuclear membrane sterol binding intracellular membrane-bounded organelle perinuclear endoplasmic reticulum  uc002ulx.1 uc002ulx.2 uc002ulx.3 uc002ulx.4 uc002ulx.5 
ENST00000190983.5 CCN5 ENST00000190983.5 Homo sapiens cellular communication network factor 5 (CCN5), transcript variant 3, mRNA. (from RefSeq NM_003881) B2R9N4 CT58 CTGFL E1P612 ENST00000190983.1 ENST00000190983.2 ENST00000190983.3 ENST00000190983.4 NM_003881 O76076 UNQ228/PRO261 WISP2 WISP2_HUMAN uc002xmp.1 uc002xmp.2 uc002xmp.3 uc002xmp.4 uc002xmp.5 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]. May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production. Secreted (Probable). Expressed in primary osteoblasts, fibroblasts, ovary, testes, and heart. Belongs to the CCN family. Contains 1 IGFBP N-terminal domain. Contains 1 TSP type-1 domain. Contains 1 VWFC domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WISP2ID42814ch20q12.html"; integrin binding insulin-like growth factor binding extracellular region extracellular space nucleus cell adhesion signal transduction cell-cell signaling heparin binding extracellular matrix negative regulation of cell death  uc002xmp.1 uc002xmp.2 uc002xmp.3 uc002xmp.4 uc002xmp.5 
ENST00000191018.9 CTSA ENST00000191018.9 Homo sapiens cathepsin A (CTSA), transcript variant 2, mRNA. (from RefSeq NM_001127695) B2R798 ENST00000191018.1 ENST00000191018.2 ENST00000191018.3 ENST00000191018.4 ENST00000191018.5 ENST00000191018.6 ENST00000191018.7 ENST00000191018.8 NM_001127695 P10619 PPGB PPGB_HUMAN Q561W6 Q5JZH1 Q96KJ2 Q9BR08 Q9BW68 uc002xqj.1 uc002xqj.2 uc002xqj.3 uc002xqj.4 uc002xqj.5 This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]. Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins. Release of a C-terminal amino acid with broad specificity. Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked. Lysosome. Defects in CTSA are the cause of galactosialidosis (GSL) [MIM:256540]. A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, mental retardation, neurologic deterioration, absence of visceromegaly, and long survival. Belongs to the peptidase S10 family. Sequence=CAI20248.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTSA"; carboxypeptidase activity serine-type carboxypeptidase activity extracellular region nucleoplasm lysosome endoplasmic reticulum proteolysis glycosphingolipid metabolic process intracellular protein transport enzyme activator activity peptidase activity membrane hydrolase activity regulation of protein stability azurophil granule lumen positive regulation of catalytic activity lysosomal lumen intracellular membrane-bounded organelle neutrophil degranulation proteolysis involved in cellular protein catabolic process extracellular exosome regulation of chaperone-mediated autophagy negative regulation of chaperone-mediated autophagy lumenal side of lysosomal membrane  uc002xqj.1 uc002xqj.2 uc002xqj.3 uc002xqj.4 uc002xqj.5 
ENST00000191063.8 ANKRD16 ENST00000191063.8 Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 4, mRNA. (from RefSeq NM_001009943) A6NEF0 ANR16_HUMAN ENST00000191063.1 ENST00000191063.2 ENST00000191063.3 ENST00000191063.4 ENST00000191063.5 ENST00000191063.6 ENST00000191063.7 NM_001009943 Q6P6B7 Q9NT01 uc001iiq.1 uc001iiq.2 uc001iiq.3 uc001iiq.4 Contains 9 ANK repeats. nucleus cytoplasm tRNA modification  uc001iiq.1 uc001iiq.2 uc001iiq.3 uc001iiq.4 
ENST00000192314.7 GAL3ST2 ENST00000192314.7 Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA. (from RefSeq NM_022134) ENST00000192314.1 ENST00000192314.2 ENST00000192314.3 ENST00000192314.4 ENST00000192314.5 ENST00000192314.6 G3ST2_HUMAN GP3ST NM_022134 Q17RK0 Q57Z52 Q9H3Q3 uc002wcj.1 uc002wcj.2 uc002wcj.3 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC117295.1, AB040610.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000192314.7/ ENSP00000192314.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transfers a sulfate group to the hydroxyl group at C3 of non-reducing beta-galactosyl residues. Acts both on type 1 (Gal- beta-1,3-GlcNAc) and type 2 (Gal-beta-1,4-GlcNAc) chains with similar efficiency. Strongly inhibited by Cu(2+) and Zn(2+). pH dependence: Optimum pH is 6.0-6.5; Protein modification; carbohydrate sulfation. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Ubiquitous. Detected in heart, stomach, colon, liver and spleen, in epithelial cells lining the lower to middle layer of the crypts in colonic mucosa, hepatocytes surrounding the central vein of the liver, extravillous cytotrophoblasts in the basal plate of the septum of the placenta, renal tubules of the kidney, and neuronal cells of the cerebral cortex. Belongs to the galactose-3-O-sulfotransferase family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; galactosylceramide sulfotransferase activity protein binding Golgi apparatus sulfotransferase activity biological_process glycolipid biosynthetic process membrane integral component of membrane transferase activity Golgi cisterna membrane  uc002wcj.1 uc002wcj.2 uc002wcj.3 
ENST00000192788.6 BLTP3A ENST00000192788.6 Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. (from RefSeq NM_017754) C6orf107 ENST00000192788.1 ENST00000192788.2 ENST00000192788.3 ENST00000192788.4 ENST00000192788.5 NM_017754 Q6BDS2 Q9NXE0 UHRF1BP1 URFB1_HUMAN uc003oju.1 uc003oju.2 uc003oju.3 uc003oju.4 uc003oju.5 uc003oju.6 May act as a negative regulator of cell growth. Homodimer (Potential). Interacts with UHRF1. Sequence=BAA91074.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; protein binding identical protein binding histone deacetylase binding  uc003oju.1 uc003oju.2 uc003oju.3 uc003oju.4 uc003oju.5 uc003oju.6 
ENST00000193322.8 OSTM1 ENST00000193322.8 Homo sapiens osteoclastogenesis associated transmembrane protein 1 (OSTM1), mRNA. (from RefSeq NM_014028) E1P5E3 ENST00000193322.1 ENST00000193322.2 ENST00000193322.3 ENST00000193322.4 ENST00000193322.5 ENST00000193322.6 ENST00000193322.7 GL HSPC019 NM_014028 OSTM1_HUMAN Q5R391 Q6PCA7 Q7RTW6 Q86WC4 Q8NC29 Q8TC82 Q9Y2S9 UNQ6098/PRO21201 uc003psd.1 uc003psd.2 uc003psd.3 uc003psd.4 This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.213465.1, SRR1803613.136052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000193322.8/ ENSP00000193322.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for osteoclast and melanocyte maturation and function (By similarity). Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits. Lysosome membrane; Single-pass type I membrane protein. Note=Requires CLCN7 to travel to lysosomes. Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein (By similarity). Highly N-glycosylated. Defects in OSTM1 are the cause of osteopetrosis autosomal recessive type 5 (OPTB5) [MIM:259720]; also called infantile malignant osteopetrosis 3. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. Sequence=AAD27000.1; Type=Frameshift; Positions=221; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OSTM1"; lysosome lysosomal membrane cytosol membrane integral component of membrane osteoclast differentiation ion transmembrane transport  uc003psd.1 uc003psd.2 uc003psd.3 uc003psd.4 
ENST00000193391.8 IMPG2 ENST00000193391.8 Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. (from RefSeq NM_016247) A8MWT5 ENST00000193391.1 ENST00000193391.2 ENST00000193391.3 ENST00000193391.4 ENST00000193391.5 ENST00000193391.6 ENST00000193391.7 IMPG2_HUMAN IPM200 NM_016247 Q9BZV3 Q9UKD4 Q9UKK5 uc003duq.1 uc003duq.2 uc003duq.3 uc003duq.4 The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB593127.1, AF173155.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000193391.8/ ENSP00000193391.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light- sensitive photoreceptor outer segment. Binds heparin. Membrane; Single-pass type I membrane protein (Potential). Expressed in the retina. Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones. IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina. Detected in the pineal gland. Highly glycosylated (N- and O-linked carbohydrates). Defects in IMPG2 are the cause of retinitis pigmentosa type 56 (RP56) [MIM:613581]. RP56 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in IMPG2 are the cause of maculopathy IMPG2- related (MACLP-IMPG2) [MIM:613581]. MACLP-IMPG2 is a mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. Contains 2 EGF-like domains. Contains 2 SEA domains. extracellular matrix structural constituent hyaluronic acid binding visual perception heparin binding membrane integral component of membrane extracellular matrix interphotoreceptor matrix receptor complex  uc003duq.1 uc003duq.2 uc003duq.3 uc003duq.4 
ENST00000193403.10 ACTN1 ENST00000193403.10 Homo sapiens actinin alpha 1 (ACTN1), transcript variant 2, mRNA. (from RefSeq NM_001102) ACTN1_HUMAN B3V8S3 B4DHH3 ENST00000193403.1 ENST00000193403.2 ENST00000193403.3 ENST00000193403.4 ENST00000193403.5 ENST00000193403.6 ENST00000193403.7 ENST00000193403.8 ENST00000193403.9 NM_001102 P12814 Q1HE25 Q9BTN1 uc001xkl.1 uc001xkl.2 uc001xkl.3 uc001xkl.4 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Homodimer; antiparallel. Interacts with DDN, MYOZ2, PDLIM2, TTID and LPP. Interacts with PSD (By similarity). P12931:SRC; NbExp=2; IntAct=EBI-351710, EBI-621482; Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane (By similarity). Cell projection, ruffle (By similarity). Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P12814-1; Sequence=Displayed; Name=2; IsoId=P12814-2; Sequence=VSP_041264; Name=3; IsoId=P12814-3; Sequence=VSP_043525; Belongs to the alpha-actinin family. Contains 1 actin-binding domain. Contains 2 CH (calponin-homology) domains. Contains 2 EF-hand domains. Contains 4 spectrin repeats. stress fiber ruffle platelet degranulation double-stranded RNA binding actin binding integrin binding calcium ion binding protein binding extracellular region extracellular space cytoplasm cytosol cytoskeleton plasma membrane brush border cell-cell junction fascia adherens focal adhesion actin filament organization membrane vinculin binding sarcomere Z disc cell junction platelet formation ligand-dependent nuclear receptor transcription coactivator activity platelet alpha granule lumen pseudopodium platelet morphogenesis protein homodimerization activity regulation of apoptotic process cell projection ion channel binding metal ion binding focal adhesion assembly actin filament binding actin filament bundle assembly negative regulation of cellular component movement actin filament network formation actin crosslink formation extracellular exosome glutamatergic synapse positive regulation of nucleic acid-templated transcription actin filament platelet activation platelet aggregation  uc001xkl.1 uc001xkl.2 uc001xkl.3 uc001xkl.4 
ENST00000194097.8 NAIP ENST00000194097.8 Homo sapiens NLR family apoptosis inhibitory protein (NAIP), transcript variant 3, mRNA. (from RefSeq NM_001346870) B9EG72 BIRC1 BIRC1_HUMAN ENST00000194097.1 ENST00000194097.2 ENST00000194097.3 ENST00000194097.4 ENST00000194097.5 ENST00000194097.6 ENST00000194097.7 NM_001346870 O75857 Q13075 Q13730 Q59GI6 Q99796 uc063eiu.1 This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: BC136273.1 [ECO:0000331] ##Evidence-Data-END## Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor- neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy. Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila. Interacts (via NACHT domain) with APAF1 (via CARD and NACHT domains). Interacts with C.violaceum needle protein CprI. Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord. Both the BIR and NACHT domains are essential for effective inhibition of pro-CASP9 cleavage. BIR3 domain binds to procaspase- 9 and the NACHT domain interacts with the NACHT domain of APAF1 forming a bridge between pro-CASP9 and APAF1. Contains 3 BIR repeats. Contains 1 NACHT domain. Sequence=AAC62261.1; Type=Erroneous gene model prediction; nucleotide binding immune system process cysteine-type endopeptidase inhibitor activity protein binding ATP binding cytoplasm apoptotic process inflammatory response nervous system development negative regulation of peptidase activity basolateral plasma membrane peptidase inhibitor activity cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of neuron apoptotic process innate immune response metal ion binding  uc063eiu.1 
ENST00000194118.8 DELE1 ENST00000194118.8 Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. (from UniProt Q14154) BC007855 DELE DELE_HUMAN ENST00000194118.1 ENST00000194118.2 ENST00000194118.3 ENST00000194118.4 ENST00000194118.5 ENST00000194118.6 ENST00000194118.7 KIAA0141 Q14154 Q969R4 Q96EU9 uc003lls.1 uc003lls.2 uc003lls.3 uc003lls.4 Essential for the induction of death receptor-mediated apoptosis through the regulation of caspase activation. Interacts with DAP3. Mitochondrion. Detected in liver, skeletal muscle, kidney, pancreas, spleen, thyroid, testis, ovary, small intestine and colon. Contains 7 TPR repeats. Sequence=BAA09490.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding mitochondrion apoptotic process extrinsic apoptotic signaling pathway via death domain receptors regulation of cysteine-type endopeptidase activity involved in apoptotic process  uc003lls.1 uc003lls.2 uc003lls.3 uc003lls.4 
ENST00000194130.7 SLC13A1 ENST00000194130.7 Homo sapiens solute carrier family 13 member 1 (SLC13A1), transcript variant 1, mRNA. (from RefSeq NM_022444) ENST00000194130.1 ENST00000194130.2 ENST00000194130.3 ENST00000194130.4 ENST00000194130.5 ENST00000194130.6 NAS1 NASI1 NM_022444 Q9BZW2 Q9H5Z0 S13A1_HUMAN uc003vkm.1 uc003vkm.2 uc003vkm.3 uc003vkm.4 uc003vkm.5 The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]. Sodium/sulfate cotransporter that mediates sulfate reabsorption in the kidney. Membrane; Multi-pass membrane protein. Highly expressed in kidney; not detectable in the other tissues tested. Inhibited by thiosulfate, selenate, molybdate, tungstate, citrate and succinate. Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. plasma membrane ion transport sodium ion transport dicarboxylic acid transport secondary active sulfate transmembrane transporter activity sulfate transport citrate transmembrane transporter activity succinate transmembrane transporter activity symporter activity sodium:sulfate symporter activity citrate transport membrane integral component of membrane sodium:dicarboxylate symporter activity transmembrane transporter activity transmembrane transport succinate transmembrane transport sulfate transmembrane transport  uc003vkm.1 uc003vkm.2 uc003vkm.3 uc003vkm.4 uc003vkm.5 
ENST00000194152.4 PCDHB4 ENST00000194152.4 Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. (from RefSeq NM_018938) ENST00000194152.1 ENST00000194152.2 ENST00000194152.3 NM_018938 PCDB4_HUMAN Q4V761 Q9Y5E5 uc003lip.1 uc003lip.2 uc003lip.3 uc003lip.4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660809.19460.1, SRR1660805.174070.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000194152.4/ ENSP00000194152.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  uc003lip.1 uc003lip.2 uc003lip.3 uc003lip.4 
ENST00000194155.7 PCDHB2 ENST00000194155.7 Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. (from RefSeq NM_018936) ENST00000194155.1 ENST00000194155.2 ENST00000194155.3 ENST00000194155.4 ENST00000194155.5 ENST00000194155.6 NM_018936 PCDB2_HUMAN Q4KMU1 Q9Y5E7 uc003lil.1 uc003lil.2 uc003lil.3 uc003lil.4 uc003lil.5 uc003lil.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660805.221139.1, SRR1803615.169890.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000194155.7/ ENSP00000194155.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  uc003lil.1 uc003lil.2 uc003lil.3 uc003lil.4 uc003lil.5 uc003lil.6 
ENST00000194214.10 IFT25 ENST00000194214.10 Homo sapiens heat shock protein family B (small) member 11 (HSPB11), transcript variant 17, non-coding RNA. (from RefSeq NR_167995) A6NG57 C1orf41 D3DQ45 ENST00000194214.1 ENST00000194214.2 ENST00000194214.3 ENST00000194214.4 ENST00000194214.5 ENST00000194214.6 ENST00000194214.7 ENST00000194214.8 ENST00000194214.9 HSB11_HUMAN HSPB11 HSPC034 NR_167995 Q9Y547 Q9Y684 uc001cwh.1 uc001cwh.2 uc001cwh.3 uc001cwh.4 uc001cwh.5 Component of IFT complex B composed of IFT88, IFT57, TRAF3IP1, IFT52, IFT27, HSPB11 and IFT20 (By similarity). Detected in placenta. Sequence=AAD43011.1; Type=Frameshift; Positions=77; skeletal system development kidney development protein binding centrosome cilium smoothened signaling pathway spermatogenesis heart development protein transport cell differentiation lung development intraciliary transport particle B intraciliary transport involved in cilium assembly intraciliary transport cell projection metal ion binding left/right axis specification ciliary tip cilium assembly  uc001cwh.1 uc001cwh.2 uc001cwh.3 uc001cwh.4 uc001cwh.5 
ENST00000194530.8 STRADB ENST00000194530.8 Homo sapiens STE20 related adaptor beta (STRADB), transcript variant 1, mRNA. (from RefSeq NM_018571) ALS2CR2 ENST00000194530.1 ENST00000194530.2 ENST00000194530.3 ENST00000194530.4 ENST00000194530.5 ENST00000194530.6 ENST00000194530.7 ILPIP NM_018571 PRO1038 Q5BKY7 Q9C0K7 Q9P1L0 STRAB_HUMAN uc002uyd.1 uc002uyd.2 uc002uyd.3 uc002uyd.4 uc002uyd.5 uc002uyd.6 This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity). Component of a trimeric complex composed of STK11/LKB1, STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): the complex tethers STK11/LKB1 in the cytoplasm and stimulates its catalytic activity. Interacts with BIRC4/XIAP. These two proteins are likely to coexist in a complex with TAK1, TRAF6, TAB1 and TAB2. Q9Y376:CAB39; NbExp=5; IntAct=EBI-306893, EBI-306905; Q15831:STK11; NbExp=6; IntAct=EBI-306893, EBI-306838; Nucleus. Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ILPIP-alpha; IsoId=Q9C0K7-1; Sequence=Displayed; Name=2; IsoId=Q9C0K7-2; Sequence=VSP_016623, VSP_016624; Note=No experimental confirmation available; Name=3; Synonyms=ILPIP-beta; IsoId=Q9C0K7-3; Sequence=VSP_016625; Highly expressed in heart, skeletal muscle, testis, liver and colon. The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Contains 1 protein kinase domain. Ser-184 is present instead of the conserved Asp which is expected to be an active site residue. nucleotide binding cell morphogenesis protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein export from nucleus cell cycle cell cycle arrest aggresome signal transduction by protein phosphorylation activation of protein kinase activity negative regulation of extrinsic apoptotic signaling pathway in absence of ligand protein kinase activity protein phosphorylation  uc002uyd.1 uc002uyd.2 uc002uyd.3 uc002uyd.4 uc002uyd.5 uc002uyd.6 
ENST00000194672.11 FAM135A ENST00000194672.11 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H7BXC5) AB037832 ENST00000194672.1 ENST00000194672.10 ENST00000194672.2 ENST00000194672.3 ENST00000194672.4 ENST00000194672.5 ENST00000194672.6 ENST00000194672.7 ENST00000194672.8 ENST00000194672.9 H7BXC5 H7BXC5_HUMAN uc063pku.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063pku.1 
ENST00000194900.8 DLG3 ENST00000194900.8 Contains 1 SH3 domain. (from UniProt Q5JUW8) AB033058 ENST00000194900.1 ENST00000194900.2 ENST00000194900.3 ENST00000194900.4 ENST00000194900.5 ENST00000194900.6 ENST00000194900.7 Q5JUW8 Q5JUW8_HUMAN RP11-291O7.3-003 hCG_15353 uc064zss.1 Contains 1 SH3 domain. Contains 3 PDZ (DHR) domains.  uc064zss.1 
ENST00000195173.8 SEMA5B ENST00000195173.8 Homo sapiens semaphorin 5B (SEMA5B), transcript variant 4, mRNA. (from RefSeq NM_001256348) C9JKR3 C9JKR3_HUMAN ENST00000195173.1 ENST00000195173.2 ENST00000195173.3 ENST00000195173.4 ENST00000195173.5 ENST00000195173.6 ENST00000195173.7 NM_001256348 uc011bju.1 uc011bju.2 This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Contains 1 Sema domain. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. membrane integral component of membrane semaphorin receptor binding  uc011bju.1 uc011bju.2 
ENST00000195649.10 SNAP91 ENST00000195649.10 Homo sapiens synaptosome associated protein 91 (SNAP91), transcript variant 72, non-coding RNA. (from RefSeq NR_164845) E9PDG8 E9PDG8_HUMAN ENST00000195649.1 ENST00000195649.2 ENST00000195649.3 ENST00000195649.4 ENST00000195649.5 ENST00000195649.6 ENST00000195649.7 ENST00000195649.8 ENST00000195649.9 NR_164845 uc063put.1 Contains 1 ENTH (epsin N-terminal homology) domain. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. phospholipid binding 1-phosphatidylinositol binding clathrin-coated vesicle clathrin binding clathrin coat assembly  uc063put.1 
ENST00000196061.5 PLOD1 ENST00000196061.5 Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1), transcript variant 1, mRNA. (from RefSeq NM_001316320) ENST00000196061.1 ENST00000196061.2 ENST00000196061.3 ENST00000196061.4 LLH NM_001316320 PLOD PLOD1_HUMAN Q02809 Q96AV9 Q9H132 uc001atm.1 uc001atm.2 uc001atm.3 uc001atm.4 uc001atm.5 Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2). Iron. Ascorbate. Homodimer. Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Defects in PLOD1 are the cause of Ehlers-Danlos syndrome type 6 (EDS6) [MIM:225400]. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS6 is characterized by the presence of ocular complications, particularly retinal detachment. Defects in PLOD1 are the cause of Nevo syndrome (NEVOS) [MIM:601451]. This is a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Nevo syndrome and EDS-VI have similar clinical phenotypes. Some authors consider that both syndromes are the same clinical entity. Contains 1 Fe2OG dioxygenase domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PLOD1"; response to hypoxia iron ion binding protein binding endoplasmic reticulum endoplasmic reticulum membrane cellular protein modification process procollagen-lysine 5-dioxygenase activity epidermis development membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen peptidyl-lysine hydroxylation collagen fibril organization rough endoplasmic reticulum membrane L-ascorbic acid binding collagen metabolic process protein homodimerization activity metal ion binding hydroxylysine biosynthetic process dioxygenase activity oxidation-reduction process extracellular exosome catalytic complex protein O-linked glycosylation procollagen glucosyltransferase activity  uc001atm.1 uc001atm.2 uc001atm.3 uc001atm.4 uc001atm.5 
ENST00000196169.7 TDRD3 ENST00000196169.7 Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 2, mRNA. (from RefSeq NM_030794) B2MWP9 ENST00000196169.1 ENST00000196169.2 ENST00000196169.3 ENST00000196169.4 ENST00000196169.5 ENST00000196169.6 NM_030794 Q53XA6 Q6P992 Q9H7E2 TDRD3_HUMAN uc001vhz.1 uc001vhz.2 uc001vhz.3 uc001vhz.4 uc001vhz.5 Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine- methylated loci. In cytoplasm, may play a role in the assembly and/or disassembly of mRNA stress granules and in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins. Component of mRNA stress granules. Interacts with FMR1, FXR1, FXR2, EWSR1, FUS, SERBP1, EEF1A1 and DDX3X or DDX3Y, and with the small nuclear ribonucleoprotein-associated proteins SNRPB and SNRPN. Interacts with 'Lys-48'-linked tetra-ubiquitin, but not with monoubiquitin or 'Lys-63'-linked ubiquitin chains. Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Associated with actively translating polyribosomes and with mRNA stress granules. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H7E2-1; Sequence=Displayed; Name=2; Synonyms=Long; IsoId=Q9H7E2-2; Sequence=VSP_037053; Name=3; IsoId=Q9H7E2-3; Sequence=VSP_037052; Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. The Tudor domain specifically recognizes and binds asymmetric dimethylation of histone H3 'Arg-17' (H3R17me2a) and histones H4 'Arg-3', 2 tags for epigenetic transcriptional activation. Contains 1 Tudor domain. Contains 1 UBA domain. chromatin binding transcription coactivator activity RNA binding protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol chromatin organization methylated histone binding positive regulation of nucleic acid-templated transcription exon-exon junction complex  uc001vhz.1 uc001vhz.2 uc001vhz.3 uc001vhz.4 uc001vhz.5 
ENST00000196371.10 OXCT1 ENST00000196371.10 Homo sapiens 3-oxoacid CoA-transferase 1 (OXCT1), transcript variant 7, non-coding RNA. (from RefSeq NR_157114) ENST00000196371.1 ENST00000196371.2 ENST00000196371.3 ENST00000196371.4 ENST00000196371.5 ENST00000196371.6 ENST00000196371.7 ENST00000196371.8 ENST00000196371.9 NR_157114 OXCT P55809 SCOT SCOT1_HUMAN uc003jmn.1 uc003jmn.2 uc003jmn.3 uc003jmn.4 uc003jmn.5 This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.69558.1, SRR5189661.109341.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate. Succinyl-CoA + a 3-oxo acid = succinate + a 3- oxoacyl-CoA. Ketone metabolism; succinyl-CoA degradation; acetoacetyl- CoA from succinyl-CoA: step 1/1. Homodimer. Mitochondrion matrix. Abundant in heart, followed in order by kidney, brain, and muscle, whereas in liver it is undetectable; also detectable in leukocytes and fibroblasts. Defects in OXCT1 are a cause of succinyl-CoA-3-ketoacid- CoA transferase deficiency (SCOTD) [MIM:245050]. A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. Belongs to the 3-oxoacid CoA-transferase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OXCT1"; nucleoplasm mitochondrion mitochondrial matrix brain development heart development response to nutrient 3-oxoacid CoA-transferase activity CoA-transferase activity response to hormone response to activity transferase activity positive regulation of insulin secretion involved in cellular response to glucose stimulus ketone catabolic process response to drug response to starvation protein homodimerization activity response to ethanol cellular ketone body metabolic process ketone body catabolic process adipose tissue development  uc003jmn.1 uc003jmn.2 uc003jmn.3 uc003jmn.4 uc003jmn.5 
ENST00000196482.4 ZNF324 ENST00000196482.4 Homo sapiens zinc finger protein 324 (ZNF324), mRNA. (from RefSeq NM_014347) B3KRX1 ENST00000196482.1 ENST00000196482.2 ENST00000196482.3 NM_014347 O75467 Z324A_HUMAN ZNF324A uc002qsw.1 uc002qsw.2 uc002qsw.3 uc002qsw.4 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002qsw.1 uc002qsw.2 uc002qsw.3 uc002qsw.4 
ENST00000196489.4 ZNF416 ENST00000196489.4 Homo sapiens zinc finger protein 416 (ZNF416), transcript variant 1, mRNA. (from RefSeq NM_017879) ENST00000196489.1 ENST00000196489.2 ENST00000196489.3 NM_017879 Q9BWM5 Q9NWW8 ZN416_HUMAN uc002qpf.1 uc002qpf.2 uc002qpf.3 uc002qpf.4 uc002qpf.5 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 12 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAA91257.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002qpf.1 uc002qpf.2 uc002qpf.3 uc002qpf.4 uc002qpf.5 
ENST00000196551.8 RPS5 ENST00000196551.8 Homo sapiens ribosomal protein S5 (RPS5), mRNA. (from RefSeq NM_001009) B2R4T2 ENST00000196551.1 ENST00000196551.2 ENST00000196551.3 ENST00000196551.4 ENST00000196551.5 ENST00000196551.6 ENST00000196551.7 NM_001009 P46782 Q96BN0 RS5_HUMAN uc061dsc.1 uc061dsc.2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.100764.1, SRR5189658.142489.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000196551.8/ ENSP00000196551.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the ribosomal protein S7P family. ribosomal small subunit assembly nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding mRNA binding structural constituent of ribosome protein binding nucleoplasm cytosol ribosome focal adhesion translation translational initiation regulation of translational fidelity SRP-dependent cotranslational protein targeting to membrane small ribosomal subunit membrane viral transcription rRNA binding cytosolic small ribosomal subunit extracellular exosome ribonucleoprotein complex  uc061dsc.1 uc061dsc.2 
ENST00000197268.13 FAM234B ENST00000197268.13 Homo sapiens family with sequence similarity 234 member B (FAM234B), mRNA. (from RefSeq NM_020853) A2RU67 ENST00000197268.1 ENST00000197268.10 ENST00000197268.11 ENST00000197268.12 ENST00000197268.2 ENST00000197268.3 ENST00000197268.4 ENST00000197268.5 ENST00000197268.6 ENST00000197268.7 ENST00000197268.8 ENST00000197268.9 K1467_HUMAN KIAA1467 NM_020853 Q49AF2 Q5CZ81 Q6ZUV7 Q9P261 uc001rbi.1 uc001rbi.2 uc001rbi.3 uc001rbi.4 uc001rbi.5 Membrane; Single-pass membrane protein (Potential). Belongs to the ITFG3 family. membrane integral component of membrane  uc001rbi.1 uc001rbi.2 uc001rbi.3 uc001rbi.4 uc001rbi.5 
ENST00000198536.7 PILRA ENST00000198536.7 Homo sapiens paired immunoglobin like type 2 receptor alpha (PILRA), transcript variant 1, mRNA. (from RefSeq NM_013439) ENST00000198536.1 ENST00000198536.2 ENST00000198536.3 ENST00000198536.4 ENST00000198536.5 ENST00000198536.6 NM_013439 PILRA_HUMAN Q8NHI1 Q9UKJ1 uc003uuo.1 uc003uuo.2 Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]. Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP. Monomer. Interacts with PTPN6/SHP-1 and PTPN11/SHP-2 upon tyrosine phosphorylation. Interacts with herpes simplex virus 1 glycoprotein B; functions as an entry coreceptor for this virus. P06436:gB (xeno); NbExp=3; IntAct=EBI-965833, EBI-1771271; P29350:PTPN6; NbExp=5; IntAct=EBI-965833, EBI-78260; Isoform 1: Cell membrane; Single-pass type I membrane protein (Potential). Isoform 2: Cell membrane; Single-pass type I membrane protein (Potential). Isoform 3: Secreted (Potential). Isoform 4: Secreted (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UKJ1-1; Sequence=Displayed; Name=2; IsoId=Q9UKJ1-2; Sequence=VSP_017502; Name=3; Synonyms=FDF03-deltaTM; IsoId=Q9UKJ1-3; Sequence=VSP_017501; Name=4; Synonyms=FDF03-M14; IsoId=Q9UKJ1-4; Sequence=VSP_017500; Note=Ref.2 (CAC01615) sequence is in conflict in position: 168:K->R; Predominantly detected in hemopoietic tissues and is expressed by monocytes, macrophages, and granulocytes, but not by lymphocytes. Also strongly expressed by dendritic cells (DC); preferentially by CD14+/CD1a- DC derived from CD34+ progenitors. Also expressed by CD11c+ blood and tonsil DC, but not by CD11c- DC precursors. Contains 2 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. PTPN6 seems to bind predominantly to the first ITIM motif. According to PubMed:10660620, N- and O-glycosylated. According to PubMed:10903717, only N-glycosylated. Phosphorylated on tyrosine residues. Contains 1 Ig-like V-type (immunoglobulin-like) domain. protein binding extracellular region plasma membrane signal transduction membrane integral component of membrane viral process MHC class I protein binding regulation of immune response extracellular exosome  uc003uuo.1 uc003uuo.2 
ENST00000198767.11 RRN3 ENST00000198767.11 Homo sapiens RRN3 homolog, RNA polymerase I transcription factor (RRN3), transcript variant 1, mRNA. (from RefSeq NM_018427) A2RTY9 ENST00000198767.1 ENST00000198767.10 ENST00000198767.2 ENST00000198767.3 ENST00000198767.4 ENST00000198767.5 ENST00000198767.6 ENST00000198767.7 ENST00000198767.8 ENST00000198767.9 NM_018427 Q6IPL4 Q9H4F0 Q9NYV6 RRN3_HUMAN TIFIA uc002dde.1 uc002dde.2 uc002dde.3 uc002dde.4 uc002dde.5 Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity). Interacts with TWISTNB, EIF3L, TAF1B and TAF1C. Nucleus, nucleolus. Phosphorylation is required for participation in rDNA transcription (By similarity). Phosphorylated at Thr-200 by MAPK9/JNK2, which abrogates initiation complex formation. Belongs to the RRN3 family. RNA polymerase I core binding RNA polymerase I CORE element sequence-specific DNA binding transcription factor activity, core RNA polymerase I binding RNA polymerase I transcriptional preinitiation complex assembly in utero embryonic development nucleus nucleoplasm nucleolus DNA-templated transcription, initiation transcription initiation from RNA polymerase I promoter nucleolus organization cytoplasm organization cell proliferation positive regulation of neuron projection development ribosome biogenesis positive regulation of transcription, DNA-templated homeostasis of number of cells RNA polymerase binding negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator regulation of DNA-templated transcription, initiation  uc002dde.1 uc002dde.2 uc002dde.3 uc002dde.4 uc002dde.5 
ENST00000198801.10 MOGAT2 ENST00000198801.10 Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. (from RefSeq NM_025098) A8K7I3 DC5 DGAT2L5 ENST00000198801.1 ENST00000198801.2 ENST00000198801.3 ENST00000198801.4 ENST00000198801.5 ENST00000198801.6 ENST00000198801.7 ENST00000198801.8 ENST00000198801.9 MOGT2_HUMAN NM_025098 Q3SYC1 Q3SYC2 Q6ZQZ2 Q86UH6 Q9H630 uc010rru.1 uc010rru.2 uc010rru.3 uc010rru.4 The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex with diacylglycerol O-acyltransferase 2 in the endoplasmic reticulum, and this complex catalyzes the synthesis of triacylglycerol. [provided by RefSeq, Dec 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291998.1, BC103876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000198801.10/ ENSP00000198801.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity. Acyl-CoA + 2-acylglycerol = CoA + diacylglycerol. Inhibited by oleic acid and sphingosine, while it is stimulated by phosphatidylcholine, phosphatidylserine and phosphatidic acid (By similarity). Kinetic parameters: KM=45 uM for sn-1-monooleoylglycerol; Glycerolipid metabolism; triacylglycerol biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3SYC2-1; Sequence=Displayed; Name=2; IsoId=Q3SYC2-2; Sequence=VSP_020358; Note=No experimental confirmation available; Name=3; Synonyms=MGAT2V, Trunc; IsoId=Q3SYC2-3; Sequence=VSP_020359, VSP_020360; Highly expressed in liver, small intestine, colon, stomach and kidney. Belongs to the diacylglycerol acyltransferase family. 2-acylglycerol O-acyltransferase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane glycerol metabolic process lipid metabolic process diacylglycerol biosynthetic process membrane integral component of membrane acetyltransferase activity transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups triglyceride biosynthetic process perinuclear region of cytoplasm intestinal absorption perinuclear endoplasmic reticulum membrane  uc010rru.1 uc010rru.2 uc010rru.3 uc010rru.4 
ENST00000198939.6 CHERP ENST00000198939.6 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3QK89) BC021294 ENST00000198939.1 ENST00000198939.2 ENST00000198939.3 ENST00000198939.4 ENST00000198939.5 J3QK89 J3QK89_HUMAN uc060uzj.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleic acid binding RNA binding cell RNA processing cellular calcium ion homeostasis  uc060uzj.1 
ENST00000199280.4 AQP2 ENST00000199280.4 Homo sapiens aquaporin 2 (AQP2), mRNA. (from RefSeq NM_000486) AQP2_HUMAN ENST00000199280.1 ENST00000199280.2 ENST00000199280.3 NM_000486 P41181 Q9UD68 uc001rvn.1 uc001rvn.2 uc001rvn.3 uc001rvn.4 uc001rvn.5 This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC042496.1, S73196.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein (By similarity). Cytoplasmic vesicle membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Note=Shuttles from vesicles to the apical membrane. Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane. PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated. Expressed in renal collecting tubules. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. Defects in AQP2 are the cause of diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]; also known as diabetes insipidus nephrogenic type 2. ANDI is caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. It is characterized by excessive water drinking (polydypsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. Belongs to the MIP/aquaporin (TC 1.A.8) family. Name=Nephrogenic and neurogenic Diabetes Insipidus; Note=AQP2 pages; URL="http://www.medicine.mcgill.ca/nephros/aqp2.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AQP2"; renal water homeostasis renal water transport water transmembrane transporter activity protein binding Golgi apparatus plasma membrane integral component of plasma membrane water transport glycerol transmembrane transporter activity water channel activity channel activity glycerol transport membrane integral component of membrane basolateral plasma membrane apical plasma membrane transport vesicle membrane cytoplasmic vesicle membrane cytoplasmic vesicle cellular response to water deprivation protein homotetramerization recycling endosome transmembrane transport extracellular exosome cellular response to copper ion cellular response to mercury ion metanephric collecting duct development lumenal side of membrane  uc001rvn.1 uc001rvn.2 uc001rvn.3 uc001rvn.4 uc001rvn.5 
ENST00000199320.9 DIMT1 ENST00000199320.9 Homo sapiens DIMT1 rRNA methyltransferase and ribosome maturation factor (DIMT1), transcript variant 1, mRNA. (from RefSeq NM_014473) DIM1_HUMAN DIMT1L ENST00000199320.1 ENST00000199320.2 ENST00000199320.3 ENST00000199320.4 ENST00000199320.5 ENST00000199320.6 ENST00000199320.7 ENST00000199320.8 HUSSY-05 NM_014473 O76025 Q9BU77 Q9UES1 Q9UNQ2 uc003jta.1 uc003jta.2 uc003jta.3 uc003jta.4 uc003jta.5 The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]. Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle (By similarity). 4 S-adenosyl-L-methionine + adenine(1779)/adenine(1780) in 18S rRNA = 4 S-adenosyl-L- homocysteine + N(6)-dimethyladenine(1779)/N(6)- dimethyladenine(1780) in 18S rRNA. Nucleus, nucleolus. Belongs to the methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. Sequence=AAC72947.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; rRNA modification rRNA (adenine-N6,N6-)-dimethyltransferase activity RNA binding nucleus nucleoplasm nucleolus mitochondrial matrix cytosol rRNA processing methyltransferase activity rRNA methyltransferase activity transferase activity rRNA methylation methylation 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity positive regulation of rRNA processing  uc003jta.1 uc003jta.2 uc003jta.3 uc003jta.4 uc003jta.5 
ENST00000199389.11 EIF2AK1 ENST00000199389.11 Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA. (from RefSeq NM_014413) A8K2R2 E2AK1_HUMAN ENST00000199389.1 ENST00000199389.10 ENST00000199389.2 ENST00000199389.3 ENST00000199389.4 ENST00000199389.5 ENST00000199389.6 ENST00000199389.7 ENST00000199389.8 ENST00000199389.9 HRI KIAA1369 NM_014413 PRO1362 Q549K6 Q8NBW3 Q9BQI3 Q9HC02 Q9NYE0 Q9P0V6 Q9P1J5 Q9P2H8 Q9UHG4 uc003spp.1 uc003spp.2 uc003spp.3 uc003spp.4 uc003spp.5 The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. Inhibits protein synthesis at the translation initiation level, in response to various stress conditions, including oxidative stress, heme deficiency, osmotic shock and heat shock. Exerts its function through the phosphorylation of EIF2S1 at 'Ser- 48' and 'Ser-51', thus preventing its recycling. Binds hemin forming a 1:1 complex through a cysteine thiolate and histidine nitrogenous coordination. This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell. Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions. In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties. Thus plays an essential protective role for RBC survival in anemias of iron deficiency. Similarly, in hepatocytes, involved in heme-mediated translational control of CYP2B and CYP3A and possibly other hepatic P450 cytochromes. May also contain ER stress during acute heme-deficient conditions (By similarity). ATP + a protein = ADP + a phosphoprotein. Induced by acute heme depletion, that not only increases EIF2AK1 protein levels, but also stimulates kinase activity by autophosphorylation. Inhibited by the heme-degradation products biliverdin and bilirubin. Induced by oxidative stress generated by arsenite treatment. Binding of nitric oxide (NO) to the heme iron in the N-terminal heme-binding domain activates the kinase activity, while binding of carbon monoxide (CO) suppresses kinase activity (By similarity). Synthesized in an inactive form that binds to the N- terminal domain of CDC37. Has to be associated with a multiprotein complex containing Hsp90, CDC37 and PPP5C for maturation and activation by autophosphorylation. The phosphatase PPP5C modulates this activation. Forms oligomers. Has been reported as a non- covalently bound homodimer, as well as a hexamer in the absence of hemin. Converted to an inactive disulfide linked homodimer in the presence of hemin (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQI3-1; Sequence=Displayed; Name=2; IsoId=Q9BQI3-2; Sequence=VSP_007589; Expressed predominantly in erythroid cells. At much lower levels, expressed in hepatocytes (at protein level). Activated by autophosphorylation; phosphorylated predominantly on serine and threonine residues, but also on tyrosine residues. Autophosphorylation at Thr-488 is required for kinase activation. The active autophosphorylated form apparently is largely refractory to cellular heme fluctuations (By similarity). Can bind 1 molecules of heme per polypeptide chain (By similarity). Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Contains 2 HRM (heme regulatory motif) repeats. Contains 1 protein kinase domain. Sequence=AAF70289.1; Type=Frameshift; Positions=24, 26, 33; Sequence=AAF71057.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA92607.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding acute inflammatory response protein kinase activity protein serine/threonine kinase activity eukaryotic translation initiation factor 2alpha kinase activity protein binding ATP binding cytoplasm regulation of translation protein phosphorylation phagocytosis negative regulation of cell proliferation regulation of translational initiation by eIF2 alpha phosphorylation regulation of eIF2 alpha phosphorylation by heme kinase activity phosphorylation transferase activity negative regulation of translation heme binding macrophage differentiation protein homodimerization activity negative regulation of translational initiation by iron protoporphyrinogen IX metabolic process protein autophosphorylation regulation of hemoglobin biosynthetic process negative regulation of hemoglobin biosynthetic process iron ion homeostasis response to iron ion starvation  uc003spp.1 uc003spp.2 uc003spp.3 uc003spp.4 uc003spp.5 
ENST00000199447.9 NME8 ENST00000199447.9 Homo sapiens NME/NM23 family member 8 (NME8), mRNA. (from RefSeq NM_016616) ENST00000199447.1 ENST00000199447.2 ENST00000199447.3 ENST00000199447.4 ENST00000199447.5 ENST00000199447.6 ENST00000199447.7 ENST00000199447.8 NM_016616 Q8N427 Q9NZH1 SPTRX2 TXND3_HUMAN TXNDC3 uc003tfn.1 uc003tfn.2 uc003tfn.3 uc003tfn.4 uc003tfn.5 This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: GQ472221.1, BC036816.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151119, SAMEA2161674 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199447.9/ ENSP00000199447.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds. Monomer. Cytoplasm. Testis-specific. Expressed only in primary spermatocytes and round spermatids. Restricted to spermiogenesis, starting at the pachytene spermatocyte level and peaking at the round and elongating spermatid stage. Contains 3 inactive NDK domains that each lack the active His residue, suggesting that they have no NDP kinase activity. Defects in NME8 are the cause of primary ciliary dyskinesia type 6 (CILD6) [MIM:610852]. CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. In the C-terminal section; belongs to the NDK family. Contains 1 thioredoxin domain. cytoplasm multicellular organism development spermatogenesis microtubule binding cell differentiation flagellated sperm motility cellular response to reactive oxygen species outer dynein arm cell redox homeostasis cilium assembly sperm principal piece sperm cytoplasmic droplet  uc003tfn.1 uc003tfn.2 uc003tfn.3 uc003tfn.4 uc003tfn.5 
ENST00000199448.9 EPDR1 ENST00000199448.9 Homo sapiens ependymin related 1 (EPDR1), transcript variant 1, mRNA. (from RefSeq NM_017549) A8K4C0 ENST00000199448.1 ENST00000199448.2 ENST00000199448.3 ENST00000199448.4 ENST00000199448.5 ENST00000199448.6 ENST00000199448.7 ENST00000199448.8 EPDR1_HUMAN MERP1 NM_017549 Q06BL0 Q99M77 Q9UM22 UCC1 uc003tfp.1 uc003tfp.2 uc003tfp.3 uc003tfp.4 uc003tfp.5 uc003tfp.6 The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UM22-1; Sequence=Displayed; Name=2; IsoId=Q9UM22-2; Sequence=VSP_031976; Belongs to the ependymin family. Sequence=AAH00686.2; Type=Erroneous initiation; Sequence=CAB60269.1; Type=Erroneous initiation; calcium ion binding extracellular region lysosome cell-matrix adhesion lipid binding lysosomal lumen  uc003tfp.1 uc003tfp.2 uc003tfp.3 uc003tfp.4 uc003tfp.5 uc003tfp.6 
ENST00000199706.13 MRPL28 ENST00000199706.13 Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006428) B2RCM4 D3DU46 ENST00000199706.1 ENST00000199706.10 ENST00000199706.11 ENST00000199706.12 ENST00000199706.2 ENST00000199706.3 ENST00000199706.4 ENST00000199706.5 ENST00000199706.6 ENST00000199706.7 ENST00000199706.8 ENST00000199706.9 MAAT1 NM_006428 Q13084 Q4TT39 Q96S26 Q9BQD8 Q9BR04 RM28_HUMAN uc002cgs.1 uc002cgs.2 uc002cgs.3 uc002cgs.4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.571234.1, SRR1660803.318866.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153307, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000199706.13/ ENSP00000199706.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Interacts with OXA1L (By similarity). Mitochondrion. Found in a variety of normal tissues including spleen, testes, thymus, liver, kidney, brain, adrenal, lung and retinal tissue. Potentially represents an important therapeutic reagent for HLA-A24 patients. This antigen is recognized by tumor- infiltrating lymphocyte (TIL) 1290 in the context of HLA-A24. Belongs to the ribosomal protein L28P family. Sequence=AAC50181.1; Type=Erroneous initiation; Sequence=AAK61226.1; Type=Erroneous gene model prediction; RNA binding structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial ribosome mitochondrial large ribosomal subunit cytosol ribosome translation mitochondrial translational elongation mitochondrial translational termination  uc002cgs.1 uc002cgs.2 uc002cgs.3 uc002cgs.4 
ENST00000199708.3 HBQ1 ENST00000199708.3 Homo sapiens hemoglobin subunit theta 1 (HBQ1), mRNA. (from RefSeq NM_005331) ENST00000199708.1 ENST00000199708.2 HBAT_HUMAN NM_005331 P09105 Q13723 Q1W6G5 uc002cfz.1 uc002cfz.2 uc002cfz.3 uc002cfz.4 uc002cfz.5 Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC056686.1, CD580449.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199708.3/ ENSP00000199708.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the globin family. oxygen transporter activity iron ion binding protein binding hemoglobin complex oxygen transport oxygen binding heme binding haptoglobin-hemoglobin complex hydrogen peroxide catabolic process organic acid binding metal ion binding cellular oxidant detoxification peroxidase activity haptoglobin binding  uc002cfz.1 uc002cfz.2 uc002cfz.3 uc002cfz.4 uc002cfz.5 
ENST00000199764.7 CEACAM6 ENST00000199764.7 Homo sapiens CEA cell adhesion molecule 6 (CEACAM6), mRNA. (from RefSeq NM_002483) CEAM6_HUMAN ENST00000199764.1 ENST00000199764.2 ENST00000199764.3 ENST00000199764.4 ENST00000199764.5 ENST00000199764.6 NCA NM_002483 P40199 Q13774 Q14920 Q53XP7 uc032hyc.1 uc032hyc.2 uc032hyc.3 This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M18728.1, M18216.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199764.7/ ENSP00000199764.6 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Q16568:CARTPT; NbExp=3; IntAct=EBI-4314501, EBI-4314526; P13688:CEACAM1; NbExp=2; IntAct=EBI-4314501, EBI-4314481; Cell membrane; Lipid-anchor, GPI-anchor. Belongs to the immunoglobulin superfamily. CEA family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. protein binding extracellular space plasma membrane apoptotic process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules signal transduction positive regulation of cell proliferation cell surface membrane apical plasma membrane positive regulation of cell migration anchored component of membrane positive regulation of heterotypic cell-cell adhesion azurophil granule membrane identical protein binding neutrophil degranulation protein heterodimerization activity leukocyte migration positive regulation of endothelial cell-matrix adhesion via fibronectin negative regulation of anoikis  uc032hyc.1 uc032hyc.2 uc032hyc.3 
ENST00000199814.9 RBM22 ENST00000199814.9 Homo sapiens RNA binding motif protein 22 (RBM22), mRNA. (from RefSeq NM_018047) 199G4 A6NDM5 B4DLI9 ENST00000199814.1 ENST00000199814.2 ENST00000199814.3 ENST00000199814.4 ENST00000199814.5 ENST00000199814.6 ENST00000199814.7 ENST00000199814.8 NM_018047 O95607 Q9NW64 RBM22_HUMAN ZC3H16 uc003lst.1 uc003lst.2 uc003lst.3 uc003lst.4 uc003lst.5 This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK001152.1, SRR3476690.115598.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199814.9/ ENSP00000199814.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses. Identified in the spliceosome C complex. Interacts with PDCD6; the interaction induces translocation of PDCD6 in the cytoplasm. P04156:PRNP; NbExp=1; IntAct=EBI-2602260, EBI-977302; Nucleus. Cytoplasm. Note=Mainly located in the nucleus. Translocated from the nucleus to the cytoplasm after heat shock cell treatment. May be shuttling between the nucleus and the cytosol. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NW64-1; Sequence=Displayed; Name=2; IsoId=Q9NW64-2; Sequence=VSP_036832; Note=No experimental confirmation available; The C-terminus RRM domain and the zinc finger motif are necessary for RNA-binding (By similarity). Belongs to the SLT11 family. Contains 1 C3H1-type zinc finger. Contains 1 RRM (RNA recognition motif) domain. Sequence=AAC99998.1; Type=Miscellaneous discrepancy; Note=Chimera; mRNA splicing, via spliceosome Prp19 complex nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex cytoplasm mRNA processing RNA splicing U6 snRNA binding positive regulation of RNA splicing cellular response to drug pre-mRNA binding positive regulation of protein import into nucleus mRNA cis splicing, via spliceosome positive regulation of protein export from nucleus metal ion binding calcium-dependent protein binding U2-type catalytic step 1 spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome  uc003lst.1 uc003lst.2 uc003lst.3 uc003lst.4 uc003lst.5 
ENST00000199936.9 HSD17B2 ENST00000199936.9 Homo sapiens hydroxysteroid 17-beta dehydrogenase 2 (HSD17B2), mRNA. (from RefSeq NM_002153) B2R7T4 DHB2_HUMAN EDH17B2 ENST00000199936.1 ENST00000199936.2 ENST00000199936.3 ENST00000199936.4 ENST00000199936.5 ENST00000199936.6 ENST00000199936.7 ENST00000199936.8 NM_002153 P37059 uc002fgv.1 uc002fgv.2 uc002fgv.3 uc002fgv.4 uc002fgv.5 Capable of catalyzing the interconversion of testosterone and androstenedione, as well as estradiol and estrone. Also has 20-alpha-HSD activity. Uses NADH while EDH17B3 uses NADPH. Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H. Testosterone + NAD(+) = androst-4-ene-3,17- dione + NADH. Kinetic parameters: KM=0.21 uM for estradiol; KM=0.39 uM for testosterone; KM=0.31 uM for dihydrotestosterone; KM=0.71 uM for 20-alpha-dihydroprogesterone; KM=0.78 uM for estrone; KM=2.63 uM for androstenedione; Vmax=38 nmol/min/mg enzyme with estradiol as substrate; Vmax=45 nmol/min/mg enzyme with testosterone as substrate; Vmax=38 nmol/min/mg enzyme with dihydrotestosterone as substrate; Vmax=5.6 nmol/min/mg enzyme with 20-alpha-dihydroprogesterone as substrate; Vmax=6.6 nmol/min/mg enzyme with estrone as substrate; Vmax=11.5 nmol/min/mg enzyme with androstenedione as substrate; Membrane; Single-pass type II membrane protein (Potential). Belongs to the short-chain dehydrogenases/reductases (SDR) family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hsd17b2/"; in utero embryonic development placenta development estradiol 17-beta-dehydrogenase activity endoplasmic reticulum membrane lipid metabolic process steroid biosynthetic process estrogen biosynthetic process membrane integral component of membrane oxidoreductase activity response to retinoic acid 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity testosterone dehydrogenase (NAD+) activity oxidation-reduction process  uc002fgv.1 uc002fgv.2 uc002fgv.3 uc002fgv.4 uc002fgv.5 
ENST00000199940.10 MAP2 ENST00000199940.10 Homo sapiens microtubule associated protein 2 (MAP2), transcript variant 4, mRNA. (from RefSeq NM_031847) ENST00000199940.1 ENST00000199940.2 ENST00000199940.3 ENST00000199940.4 ENST00000199940.5 ENST00000199940.6 ENST00000199940.7 ENST00000199940.8 ENST00000199940.9 MAP2_HUMAN NM_031847 P11137 Q17S04 Q8IUX2 Q99975 Q99976 uc002vdd.1 uc002vdd.2 This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]. The exact function of MAP2 is unknown but MAPs may stabilize the microtubules against depolymerization. They also seem to have a stiffening effect on microtubules. Q13951:CBFB; NbExp=2; IntAct=EBI-2682460, EBI-718750; Cytoplasm, cytoskeleton (Probable). Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist; Name=1; Synonyms=MAP2b; IsoId=P11137-1; Sequence=Displayed; Name=2; Synonyms=MAP2c; IsoId=P11137-2; Sequence=VSP_003197; Note=Phosphorylated on Tyr-67 by FYN; Name=3; IsoId=P11137-3; Sequence=VSP_011302; Name=4; IsoId=P11137-4; Sequence=VSP_043596, VSP_043597, VSP_043598; Note=No experimental confirmation available; Phosphorylated at serine residues in K-X-G-S motifs by MAP/microtubule affinity-regulating kinase (MARK1 or MARK2), causing detachment from microtubules, and their disassembly (By similarity). MAP2A/c is phosphorylated. Phosphorylated upon DNA damage, probably by ATM or ATR. Isoform MAP2c is phosphorylated by FYN at Tyr-67. Contains 3 Tau/MAP repeats. microtubule cytoskeleton organization microtubule bundle formation dystroglycan binding structural molecule activity protein binding calmodulin binding nucleolus cytoplasm cytosol cytoskeleton microtubule microtubule associated complex axonogenesis microtubule binding postsynaptic density tubulin binding dendrite development central nervous system neuron development establishment of cell polarity dendrite negative regulation of axon extension regulation of microtubule polymerization negative regulation of microtubule polymerization neuron projection development dendrite cytoplasm nuclear periphery cell projection neuron projection neuronal cell body axon initial segment dendritic shaft axon hillock dendritic growth cone cell body dendritic branch tau protein binding dendrite morphogenesis cellular response to organic substance basilar dendrite CA3 pyramidal cell dendrite positive regulation of anterograde dense core granule transport regulation of organelle transport along microtubule dendritic filopodium positive regulation of anterograde synaptic vesicle transport regulation of cellular protein localization negative regulation of microtubule binding proximal dendrite proximal neuron projection negative regulation of microtubule motor activity main axon  uc002vdd.1 uc002vdd.2 
ENST00000200135.8 ZW10 ENST00000200135.8 Homo sapiens zw10 kinetochore protein (ZW10), mRNA. (from RefSeq NM_004724) ENST00000200135.1 ENST00000200135.2 ENST00000200135.3 ENST00000200135.4 ENST00000200135.5 ENST00000200135.6 ENST00000200135.7 NM_004724 O43264 ZW10_HUMAN uc001poe.1 uc001poe.2 uc001poe.3 uc001poe.4 uc001poe.5 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U54996.1, SRR1660809.133900.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200135.8/ ENSP00000200135.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum. Associated with a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L, and SEC22B through direct interaction with RINT1/TIP20L bound to BNIP1/SEC20L. Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH. Interacts with C19orf25, KNTC1, and ZWINT. O95229:ZWINT; NbExp=6; IntAct=EBI-1001217, EBI-1001132; Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Dynamic pattern of localization during the cell cycle. In most cells at interphase, present diffusely in the cytoplasm. In prometaphase, associated with the kinetochore. At metaphase, detected both at the kinetochores and, most prominently, at the spindle, particularly at the spindle poles. In very early anaphase, detected on segregating kinetochores. In late anaphase and telophase, accumulates at the spindle midzone. Widely expressed. No significant variation in expression during cell cycle. Overexpression as well as silencing of ZW10 disrupts the morphology of the ER-Golgi intermediate compartment as well as the Golgi apparatus and slows down ER-Golgi transport. Belongs to the ZW10 family. mitotic sister chromatid segregation establishment of mitotic spindle orientation mitotic cell cycle chromosome, centromeric region kinetochore condensed chromosome kinetochore spindle pole protein binding nucleus chromosome cytoplasm endoplasmic reticulum endoplasmic reticulum membrane spindle kinetochore microtubule cytosol cytoskeleton ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER Golgi organization cell cycle mitotic metaphase plate congression mitotic cell cycle checkpoint mitotic spindle assembly checkpoint regulation of exit from mitosis protein transport membrane vesicle-mediated transport centromeric DNA binding protein localization to kinetochore cell division meiotic cell cycle macromolecular complex assembly Dsl1/NZR complex RZZ complex  uc001poe.1 uc001poe.2 uc001poe.3 uc001poe.4 uc001poe.5 
ENST00000200181.8 ITGB4 ENST00000200181.8 Homo sapiens integrin subunit beta 4 (ITGB4), transcript variant 1, mRNA. (from RefSeq NM_000213) A0AVL6 ENST00000200181.1 ENST00000200181.2 ENST00000200181.3 ENST00000200181.4 ENST00000200181.5 ENST00000200181.6 ENST00000200181.7 ITB4_HUMAN NM_000213 O14690 O14691 O15339 O15340 O15341 P16144 Q9UIQ4 uc002jpg.1 uc002jpg.2 uc002jpg.3 uc002jpg.4 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1. Q96B67:ARRDC3; NbExp=3; IntAct=EBI-948678, EBI-2875665; Q8R5M8-2:Cadm1 (xeno); NbExp=3; IntAct=EBI-948678, EBI-5651941; P23229:ITGA6; NbExp=3; IntAct=EBI-948678, EBI-2436548; Membrane; Single-pass type I membrane protein. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes. Event=Alternative splicing; Named isoforms=5; Name=Beta-4C; IsoId=P16144-1; Sequence=Displayed; Name=Beta-4A; IsoId=P16144-2; Sequence=VSP_002749; Name=Beta-4B; IsoId=P16144-3; Sequence=VSP_002749, VSP_002750; Name=Beta-4D; IsoId=P16144-4; Sequence=VSP_002749, VSP_002751; Name=Beta-4E; IsoId=P16144-5; Sequence=VSP_002747, VSP_002748; Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach. The fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230. Defects in ITGB4 are a cause of epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]; also known as junctional epidermolysis bullosa with pyloric atresia (PA-JEB) or aplasia cutis congenita with gastrointestinal atresia. EB-PA is an autosomal recessive, frequently lethal, epidermolysis bullosa with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. Defects in ITGB4 are a cause of generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]. GABEB is a non- lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. Belongs to the integrin beta chain family. Contains 1 Calx-beta domain. Contains 4 fibronectin type-III domains. Contains 1 PSI domain. Contains 1 VWFA domain. Sequence=CAA37656.1; Type=Frameshift; Positions=1413, 1429; Sequence=CAA37656.1; Type=Frameshift; Positions=1414, 1429; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ITGB4"; G-protein coupled receptor binding integrin binding protein binding plasma membrane autophagy cell communication cell adhesion cell-matrix adhesion integrin-mediated signaling pathway integrin complex response to wounding cell surface membrane integral component of membrane cell migration cell junction hemidesmosome extracellular matrix organization cell leading edge hemidesmosome assembly cell adhesion mediated by integrin nail development receptor complex skin development mesodermal cell differentiation digestive tract development cell motility extracellular exosome renal system development amelogenesis insulin-like growth factor I binding neuregulin binding  uc002jpg.1 uc002jpg.2 uc002jpg.3 uc002jpg.4 
ENST00000200453.6 PPP1R15A ENST00000200453.6 Homo sapiens protein phosphatase 1 regulatory subunit 15A (PPP1R15A), mRNA. (from RefSeq NM_014330) ENST00000200453.1 ENST00000200453.2 ENST00000200453.3 ENST00000200453.4 ENST00000200453.5 GADD34 NM_014330 O75807 PR15A_HUMAN Q6IA96 Q9NVU6 uc002pky.1 uc002pky.2 uc002pky.3 uc002pky.4 uc002pky.5 uc002pky.6 This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK225632.1, SRR1803612.227044.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 19131336 ##RefSeq-Attributes-END## Recruits the serine/threonine-protein phosphatase PP1 to dephosphorylate the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing TP53 phosphorylation on 'Ser-15'. Interacts with PCNA (By similarity). Interacts with LYN and MLL. Interacts with PP1, PPP1R1A and SMARCB1. Interacts with SMAD7. Interacts with BAG1. P56545:CTBP2; NbExp=2; IntAct=EBI-714746, EBI-741533; Q13522:PPP1R1A; NbExp=4; IntAct=EBI-714746, EBI-1568511; Endoplasmic reticulum. By methyl methanesulfonate and ionizing irradiation. By IL24/interleukin-24 in melanoma cells; which induces apoptosis. Phosphorylated on tyrosine by LYN; which impairs its antiproliferative activity. The phosphatase activity of the PPP1R15A-PP1 complex toward EIF2S1 is specifically inhibited by Salubrinal, a drug that protects cells from endoplasmic reticulum stress. Belongs to the PPP1R15 family. protein phosphatase type 1 complex protein binding cytoplasm mitochondrion mitochondrial outer membrane endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol regulation of translation apoptotic process cellular response to DNA damage stimulus cell cycle arrest protein phosphatase 1 binding membrane protein phosphatase regulator activity protein kinase binding positive regulation of translational initiation in response to stress negative regulation of phosphoprotein phosphatase activity positive regulation of phosphoprotein phosphatase activity response to endoplasmic reticulum stress negative regulation of protein dephosphorylation regulation of translational initiation by eIF2 alpha dephosphorylation intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress protein localization to endoplasmic reticulum protein phosphatase activator activity positive regulation of peptidyl-serine dephosphorylation negative regulation of PERK-mediated unfolded protein response positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation  uc002pky.1 uc002pky.2 uc002pky.3 uc002pky.4 uc002pky.5 uc002pky.6 
ENST00000200457.9 TRIP6 ENST00000200457.9 Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA. (from RefSeq NM_003302) A4D2E7 ENST00000200457.1 ENST00000200457.2 ENST00000200457.3 ENST00000200457.4 ENST00000200457.5 ENST00000200457.6 ENST00000200457.7 ENST00000200457.8 NM_003302 O15170 O15275 OIP1 Q15654 Q9BTB2 Q9BUE5 Q9BXP3 Q9UNT4 TRIP6_HUMAN uc003uww.1 uc003uww.2 uc003uww.3 uc003uww.4 uc003uww.5 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.193113.1, SRR3476690.676481.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200457.9/ ENSP00000200457.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF-kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor. Specifically interacts with the ligand binding domain of the thyroid receptor (TR) in the presence of thyroid hormone. Interacts with PTPN13. Interacts with SVIL isoform 2. Interacts with LPAR2 but not other LPA receptors. Interacts with PRKAA2. Interacts with MAGI1. Interacts with SCRIB (By similarity). Binds to S.typhimurium protein sseI. P54259:ATN1; NbExp=2; IntAct=EBI-742327, EBI-945980; P31269:HOXA9; NbExp=4; IntAct=EBI-742327, EBI-742314; Q96I34:PPP1R16A; NbExp=3; IntAct=EBI-742327, EBI-710402; Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Nucleus. Cytoplasm. Note=Shuttles between nucleus and cytoplasm. Abundantly expressed in kidney, liver and lung. Lower levels in heart, placenta and pancreas. Expressed in colonic epithelial cells. Up-regulated in colonic tumors. The LIM zinc-binding domains mediate interaction with LPAR2 and with S.typhimurium protein sseI. Phosphorylation at Tyr-55 by SRC is required for enhancement of lysophosphatidic acid-induced cell migration. Tyr-55 is dephosphorylated by PTPN13. Belongs to the zyxin/ajuba family. Contains 3 LIM zinc-binding domains. Sequence=AAC41740.1; Type=Frameshift; Positions=461; stress fiber RNA binding interleukin-1 receptor binding protein binding nucleus cytoplasm cytosol cytoskeleton plasma membrane focal adhesion cell adhesion signal transduction kinase binding cell junction positive regulation of cell migration metal ion binding thyroid hormone receptor binding focal adhesion assembly positive regulation of NIK/NF-kappaB signaling  uc003uww.1 uc003uww.2 uc003uww.3 uc003uww.4 uc003uww.5 
ENST00000200557.11 ADAM11 ENST00000200557.11 Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), transcript variant 1, mRNA. (from RefSeq NM_002390) ADA11_HUMAN ENST00000200557.1 ENST00000200557.10 ENST00000200557.2 ENST00000200557.3 ENST00000200557.4 ENST00000200557.5 ENST00000200557.6 ENST00000200557.7 ENST00000200557.8 ENST00000200557.9 MDC NM_002390 O75078 Q14808 Q14809 Q14810 uc002ihh.1 uc002ihh.2 uc002ihh.3 uc002ihh.4 uc002ihh.5 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. Can bind to LGI1 and LGI4 (By similarity). Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Long; Synonyms=MDC-769; IsoId=O75078-1; Sequence=Displayed; Name=Short; Synonyms=MDC-524; IsoId=O75078-2; Sequence=VSP_005472, VSP_005473, VSP_005474, VSP_005475; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed predominantly in brain. Slightly detected or not at all in other tissues. A conserved motif [AVN[ED]CD] within the disintegrin-like domain could be involved in the binding to the integrin receptor. The precursor is cleaved by a furin endopeptidase (By similarity). Contains 1 disintegrin domain. Contains 1 EGF-like domain. Contains 1 peptidase M12B domain. metalloendopeptidase activity integrin binding plasma membrane proteolysis integrin-mediated signaling pathway metallopeptidase activity membrane integral component of membrane  uc002ihh.1 uc002ihh.2 uc002ihh.3 uc002ihh.4 uc002ihh.5 
ENST00000200639.9 LAMP2 ENST00000200639.9 Homo sapiens lysosomal associated membrane protein 2 (LAMP2), transcript variant A, mRNA. (from RefSeq NM_002294) A8K4X5 D3DTF0 ENST00000200639.1 ENST00000200639.2 ENST00000200639.3 ENST00000200639.4 ENST00000200639.5 ENST00000200639.6 ENST00000200639.7 ENST00000200639.8 LAMP2_HUMAN NM_002294 P13473 Q16641 Q6Q3G8 Q96J30 Q99534 Q9UD93 uc004est.1 uc004est.2 uc004est.3 uc004est.4 uc004est.5 uc004est.6 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]. Implicated in tumor cell metastasis. May function in protection of the lysosomal membrane from autodigestion, maintenance of the acidic environment of the lysosome, adhesion when expressed on the cell surface (plasma membrane), and inter- and intracellular signal transduction. Protects cells from the toxic effects of methylating mutagens. Cell membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane. Event=Alternative splicing; Named isoforms=3; Name=LAMP-2A; IsoId=P13473-1; Sequence=Displayed; Name=LAMP-2B; IsoId=P13473-2; Sequence=VSP_003044; Name=LAMP-2C; IsoId=P13473-3; Sequence=VSP_042519; Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle. Isoform LAMP-2B is highly expressed in skeletal muscle, less in brain, placenta, lung, kidney and pancreas, very low in liver. O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans. Defects in LAMP2 are the cause of Danon disease (DAND) [MIM:300257]; also known as glycogen storage disease type 2B (GSD2B). DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and mental retardation. It is often associated with an accumulation of glycogen in muscle and lysosomes. Belongs to the LAMP family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LAMP2"; autophagosome membrane platelet degranulation protein binding extracellular space lysosome lysosomal membrane endosome late endosome trans-Golgi network plasma membrane protein targeting autophagy cellular response to starvation endosome membrane membrane integral component of membrane protein import enzyme binding protein domain specific binding phagocytic vesicle membrane platelet dense granule membrane negative regulation of protein complex assembly cytoplasmic vesicle regulation of protein stability late endosome membrane azurophil granule membrane lysosomal lumen neutrophil degranulation autolysosome membrane raft muscle cell cellular homeostasis perinuclear region of cytoplasm protein stabilization chaperone-mediated autophagy protein targeting to lysosome involved in chaperone-mediated autophagy chaperone-mediated autophagy translocation complex extracellular exosome establishment of protein localization to organelle autophagosome maturation integral component of autophagosome membrane ficolin-1-rich granule membrane lysosomal protein catabolic process lysosomal matrix membrane microdomain  uc004est.1 uc004est.2 uc004est.3 uc004est.4 uc004est.5 uc004est.6 
ENST00000200652.4 SLC22A4 ENST00000200652.4 Homo sapiens solute carrier family 22 member 4 (SLC22A4), mRNA. (from RefSeq NM_003059) ENST00000200652.1 ENST00000200652.2 ENST00000200652.3 ETT NM_003059 O14546 OCTN1 Q9H015 S22A4_HUMAN UT2H uc003kwq.1 uc003kwq.2 uc003kwq.3 uc003kwq.4 uc003kwq.5 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.246404.1, SRR3476690.258062.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200652.4/ ENSP00000200652.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET). Kinetic parameters: KM=0.470 mM for TEA (at 37 degrees Celsius and pH 7.4); Vmax=0.974 nmol/min/mg enzyme toward TEA (at 37 degrees Celsius and pH 7.4); pH dependence: More active at neutral and alkaline pHs than at acidic pHs; Interacts with PDZK1 (By similarity). Membrane; Multi-pass membrane protein. Widely expressed. Highly expressed in whole blood, bone marrow, trachea and fetal liver. Weakly expressed in kidney, skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen and spinal cord. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. Predominantly expressed in CD14 cells in peripheral blood mononuclear cells. Overexpressed upon TNF treatment. Genetic variations in SLC22A4 are a cause of susceptibility to rheumatoid arthritis (RA) [MIM:180300]. It is a systemic inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. PubMed:9426230 reported that this protein does not transport carnitine, however, experiments were done with the Phe- 503 variant, which affects the ability to transport carnitine. PubMed:15459889 showed that, although weakly, it can also transport carnitine at some level. Its function in carnitine transport is therefore unclear. nucleotide binding protein binding ATP binding mitochondrion plasma membrane integral component of plasma membrane triglyceride metabolic process ion transport sodium ion transport body fluid secretion secondary active organic cation transmembrane transporter activity carnitine metabolic process carnitine transmembrane transporter activity symporter activity cation:cation antiporter activity quaternary ammonium group transmembrane transporter activity organic cation transport quaternary ammonium group transport carnitine transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity PDZ domain binding transmembrane transport cation transmembrane transport carnitine transmembrane transport  uc003kwq.1 uc003kwq.2 uc003kwq.3 uc003kwq.4 uc003kwq.5 
ENST00000200676.8 CETP ENST00000200676.8 Homo sapiens cholesteryl ester transfer protein (CETP), transcript variant 1, mRNA. (from RefSeq NM_000078) CETP_HUMAN ENST00000200676.1 ENST00000200676.2 ENST00000200676.3 ENST00000200676.4 ENST00000200676.5 ENST00000200676.6 ENST00000200676.7 NM_000078 P11597 Q13987 Q13988 Q53YZ1 uc002eki.1 uc002eki.2 uc002eki.3 uc002eki.4 The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. Involved in the transfer of insoluble cholesteryl esters in the reverse transport of cholesterol. Secreted, extracellular space. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11597-1; Sequence=Displayed; Name=2; IsoId=P11597-2; Sequence=VSP_023645; Expressed by the liver and secreted in plasma. Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470]. Defects in CETP are the cause of hyperalphalipoproteinemia type 1 (HALP1) [MIM:143470]. Affected individuals show high levels of alpha-lipoprotein (high density lipoprotein/HDL). Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CETP"; Name=Wikipedia; Note=Cholesterylester transfer protein entry; URL="http://en.wikipedia.org/wiki/Cholesterylester_transfer_protein"; lipid transporter activity phospholipid transporter activity extracellular region extracellular space lipid metabolic process triglyceride metabolic process lipid transport steroid metabolic process cholesterol metabolic process lipid binding negative regulation of macrophage derived foam cell differentiation regulation of cholesterol efflux cholesterol binding phospholipid transport triglyceride binding cholesterol transport phosphatidylcholine binding vesicle triglyceride transport high-density lipoprotein particle very-low-density lipoprotein particle remodeling low-density lipoprotein particle remodeling high-density lipoprotein particle remodeling cholesterol homeostasis reverse cholesterol transport phosphatidylcholine metabolic process lipid homeostasis phospholipid homeostasis extracellular exosome triglyceride homeostasis  uc002eki.1 uc002eki.2 uc002eki.3 uc002eki.4 
ENST00000200691.5 MT3 ENST00000200691.5 Homo sapiens metallothionein 3 (MT3), mRNA. (from RefSeq NM_005954) ENST00000200691.1 ENST00000200691.2 ENST00000200691.3 ENST00000200691.4 MT3_HUMAN NM_005954 P25713 Q2V574 uc002ejf.1 uc002ejf.2 uc002ejf.3 uc002ejf.4 uc002ejf.5 This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as Alzheimer's disease. [provided by RefSeq, Sep 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP211991.1, CK001163.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200691.5/ ENSP00000200691.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro. Abundant in a subset of astrocytes in the normal human brain, but greatly reduced in the Alzheimer disease (AD) brain. Belongs to the metallothionein superfamily. Type 1 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mt3/"; response to hypoxia positive regulation of protein phosphorylation copper ion binding protein binding extracellular space nucleus cytoplasm mitochondrial outer membrane rough endoplasmic reticulum cytosol ribosome microtubule plasma membrane energy reserve metabolic process cholesterol catabolic process zinc II ion transport cellular metal ion homeostasis cellular zinc ion homeostasis apoptotic process response to oxidative stress brain development synaptic vesicle drug binding zinc ion binding response to metal ion detoxification of copper ion negative regulation of autophagy positive regulation of gene expression positive regulation of necrotic cell death positive regulation of cell death negative regulation of neuron projection development astrocyte development postsynaptic density antioxidant activity inclusion body histone modification removal of superoxide radicals protein kinase activator activity negative regulation of cell growth axon negative regulation of axon extension positive regulation of vascular endothelial growth factor receptor signaling pathway regulation of response to food activation of protein kinase B activity leptin-mediated signaling pathway cellular response to oxidative stress cellular response to drug positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process positive regulation of catalytic activity negative regulation of cysteine-type endopeptidase activity involved in apoptotic process dendritic spine protein kinase B signaling negative regulation of neuron apoptotic process cellular lipid catabolic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated cadmium ion binding metal ion binding perinuclear region of cytoplasm negative regulation of neurogenesis protein stabilization negative regulation of oxidoreductase activity zinc ion homeostasis cadmium ion homeostasis regulation of protein glycosylation negative regulation of necrotic cell death ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade cellular response to cadmium ion cellular response to copper ion cellular response to zinc ion cellular response to hypoxia cellular response to nitric oxide positive regulation of lysosomal membrane permeability astrocyte projection astrocyte end-foot negative regulation of neuron death negative regulation of cysteine-type endopeptidase activity negative regulation of hydrogen peroxide catabolic process positive regulation of oxygen metabolic process negative regulation of reactive oxygen species metabolic process  uc002ejf.1 uc002ejf.2 uc002ejf.3 uc002ejf.4 uc002ejf.5 
ENST00000201015.8 PTHLH ENST00000201015.8 Homo sapiens parathyroid hormone like hormone (PTHLH), transcript variant 2, mRNA. (from RefSeq NM_002820) ENST00000201015.1 ENST00000201015.2 ENST00000201015.3 ENST00000201015.4 ENST00000201015.5 ENST00000201015.6 ENST00000201015.7 NM_002820 Q53XY9 Q53XY9_HUMAN hCG_37265 uc001rin.1 uc001rin.2 uc001rin.3 uc001rin.4 The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]. hormone activity extracellular region nucleoplasm Golgi apparatus cytosol signal transduction bone mineralization  uc001rin.1 uc001rin.2 uc001rin.3 uc001rin.4 
ENST00000201031.3 TFAP2C ENST00000201031.3 Homo sapiens transcription factor AP-2 gamma (TFAP2C), mRNA. (from RefSeq NM_003222) AP2C_HUMAN ENST00000201031.1 ENST00000201031.2 NM_003222 O00685 O00730 Q86V30 Q8IVB6 Q92754 Q9P1X2 uc002xya.1 uc002xya.2 uc002xya.3 uc002xya.4 uc002xya.5 The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051829.1, U85658.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000201031.3/ ENSP00000201031.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity). Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity. Q99967:CITED2; NbExp=2; IntAct=EBI-937309, EBI-937732; P63279:UBE2I; NbExp=3; IntAct=EBI-937309, EBI-80168; Nucleus (Probable). During retinoic acid-mediated differentiation. The WW-binding motif mediates interaction with WWOX. Sumoylated on Lys-10; which inhibits transcriptional activity. Belongs to the AP-2 family. Name=Wikipedia; Note=Activatin protein 2 entry; URL="http://en.wikipedia.org/wiki/Activating_protein_2"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm mitochondrion cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell-cell signaling male gonad development regulation of gene expression, epigenetic positive regulation of transcription from RNA polymerase II promoter protein dimerization activity  uc002xya.1 uc002xya.2 uc002xya.3 uc002xya.4 uc002xya.5 
ENST00000201586.7 SULT2B1 ENST00000201586.7 Homo sapiens sulfotransferase family 2B member 1 (SULT2B1), transcript variant 2, mRNA. (from RefSeq NM_177973) ENST00000201586.1 ENST00000201586.2 ENST00000201586.3 ENST00000201586.4 ENST00000201586.5 ENST00000201586.6 HSST2 NM_177973 O00204 O00205 O75814 ST2B1_HUMAN uc002pjl.1 uc002pjl.2 uc002pjl.3 uc002pjl.4 uc002pjl.5 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]. Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. 3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate. Kinetic parameters: KM=10.9 uM for DHEA (at 37 degrees Celsius, in the presence of 1mM MgCl2); KM=3.8 uM for DHEA (at 37 degrees Celsius, in the presence of 10mM MgCl2); KM=11.8 uM for pregnenolone (at 37 degrees Celsius, in the presence of 1mM MgCl2); KM=0.6 uM for PAPS (at 37 degrees Celsius, in the presence of 1mM MgCl2); Vmax=1752 pmol/min/mg enzyme toward DHEA (at 37 degrees Celsius, in the presence of 10mM MgCl2); Temperature dependence: Optimum temperature is 37 degrees Celsius. Retains 70% and 20% of activity when incubated at 42 degrees Celsius for 45 and 120 minutes, respectively. Activity is lost after 200 minutes incubation at 42 degrees Celsius; Q8N1B6:-; NbExp=3; IntAct=EBI-749441, EBI-750451; Cytoplasm. Microsome. Nucleus. Note=Phosphorylation of Ser-348 is required for translocation to the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SULT2B1b, B; IsoId=O00204-1; Sequence=Displayed; Name=2; Synonyms=SULT2B1a, A; IsoId=O00204-2; Sequence=VSP_012510; Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung. Belongs to the sulfotransferase 1 family. sulfate assimilation nucleic acid binding alcohol sulfotransferase activity protein binding nucleus cytoplasm endoplasmic reticulum cytosol lipid metabolic process sulfotransferase activity steroid metabolic process cholesterol metabolic process negative regulation of cell proliferation cholesterol binding transferase activity intracellular membrane-bounded organelle positive regulation of epidermal cell differentiation steroid sulfotransferase activity 3'-phosphoadenosine 5'-phosphosulfate metabolic process extracellular exosome steroid hormone binding  uc002pjl.1 uc002pjl.2 uc002pjl.3 uc002pjl.4 uc002pjl.5 
ENST00000201647.11 EPS8L1 ENST00000201647.11 Homo sapiens EPS8 like 1 (EPS8L1), transcript variant 1, mRNA. (from RefSeq NM_133180) DRC3 ENST00000201647.1 ENST00000201647.10 ENST00000201647.2 ENST00000201647.3 ENST00000201647.4 ENST00000201647.5 ENST00000201647.6 ENST00000201647.7 ENST00000201647.8 ENST00000201647.9 EPS8R1 ES8L1_HUMAN NM_133180 PP10566 Q71RE2 Q8NC10 Q8TE68 Q96BB7 Q9BSQ2 Q9GZQ2 Q9NXH0 uc002qis.1 uc002qis.2 uc002qis.3 uc002qis.4 uc002qis.5 uc002qis.6 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin. Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=Q8TE68-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8TE68-2; Sequence=VSP_019083, VSP_019085; Name=3; Synonyms=C; IsoId=Q8TE68-3; Sequence=VSP_019084, VSP_019088, VSP_019089; Name=4; IsoId=Q8TE68-4; Sequence=VSP_019082, VSP_019086, VSP_019087, VSP_019088; Detected in placenta. Belongs to the EPS8 family. Contains 1 SH3 domain. Sequence=AAG03038.1; Type=Frameshift; Positions=596; Sequence=AAG03039.1; Type=Erroneous gene model prediction; actin binding protein binding cytoplasm cytosol plasma membrane Rho protein signal transduction ruffle membrane macromolecular complex regulation of Rho protein signal transduction T cell receptor binding cadherin binding extracellular exosome positive regulation of ruffle assembly Rho guanyl-nucleotide exchange factor activity Rac guanyl-nucleotide exchange factor activity  uc002qis.1 uc002qis.2 uc002qis.3 uc002qis.4 uc002qis.5 uc002qis.6 
ENST00000201943.10 CACNB4 ENST00000201943.10 Homo sapiens calcium voltage-gated channel auxiliary subunit beta 4 (CACNB4), transcript variant 4, mRNA. (from RefSeq NM_001145798) A7BJ74 A8K1Y4 B4DG40 CACB4_HUMAN CACNLB4 ENST00000201943.1 ENST00000201943.2 ENST00000201943.3 ENST00000201943.4 ENST00000201943.5 ENST00000201943.6 ENST00000201943.7 ENST00000201943.8 ENST00000201943.9 NM_001145798 O00305 O60515 Q6B000 Q96L40 uc010fnz.1 uc010fnz.2 uc010fnz.3 uc010fnz.4 uc010fnz.5 uc010fnz.6 This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]. The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG. P21579:SYT1; NbExp=2; IntAct=EBI-714855, EBI-524909; Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=4b; IsoId=O00305-1; Sequence=Displayed; Name=2; Synonyms=4a; IsoId=O00305-2; Sequence=VSP_000635; Note=Ref.2 (AAL14351) sequence is in conflict in position: 12:D->N; Name=3; IsoId=O00305-3; Sequence=VSP_043192; Note=No experimental confirmation available; Name=4; Synonyms=4d; IsoId=O00305-4; Sequence=VSP_043193; Note=Unable to interact with the alpha-1 subunit; Expressed predominantly in the cerebellum and kidney. Defects in CACNB4 are the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9) [MIM:607682]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Defects in CACNB4 are the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6) [MIM:607682]. EJM6 is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5) [MIM:613855]. EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. Belongs to the calcium channel beta subunit family. Contains 1 SH3 domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CACNB4"; voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity protein binding cytosol plasma membrane voltage-gated calcium channel complex ion transport calcium ion transport chemical synaptic transmission neuromuscular junction development high voltage-gated calcium channel activity cytoplasmic side of plasma membrane regulation of ion transmembrane transport synapse membrane depolarization cardiac conduction calcium ion transmembrane transport regulation of voltage-gated calcium channel activity  uc010fnz.1 uc010fnz.2 uc010fnz.3 uc010fnz.4 uc010fnz.5 uc010fnz.6 
ENST00000201961.6 NOL4L ENST00000201961.6 nucleolar protein 4 like (from HGNC NOL4L) AK097804 C20orf112 ENST00000201961.1 ENST00000201961.2 ENST00000201961.3 ENST00000201961.4 ENST00000201961.5 Q5W149 Q5W149_HUMAN RP5-1184F4.6-002 uc061wex.1 uc061wex.2  uc061wex.1 uc061wex.2 
ENST00000201963.3 DNMT3B ENST00000201963.3 Homo sapiens DNA methyltransferase 3 beta (DNMT3B), transcript variant 6, mRNA. (from RefSeq NM_175850) A2A2E2 DNM3B_HUMAN E1P5M6 E1P5M7 ENST00000201963.1 ENST00000201963.2 NM_175850 Q9UBC3 Q9UBD4 Q9UJQ5 Q9UKA6 Q9UNE5 Q9Y5R9 Q9Y5S0 uc002wyf.1 uc002wyf.2 uc002wyf.3 CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]. Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co- repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Function as transcriptional corepressor by associating with ZHX1. S-adenosyl-L-methionine + DNA = S-adenosyl-L- homocysteine + DNA containing 5-methylcytosine. Activated by binding to the regulatory factor DNMT3L (By similarity). Interacts with BAZ2A/TIP5, SUV39H1 and CBX4. Interacts with UHRF1 (By similarity). Interacts with DNMT1 and DNMT3A, SETDB1, UBL1, UBE2I9 and ZHX1. Interacts with the PRC2/EED-EZH2 complex. O75530:EED; NbExp=4; IntAct=EBI-80125, EBI-923794; Q15910:EZH2; NbExp=6; IntAct=EBI-80125, EBI-530054; P63165:SUMO1; NbExp=4; IntAct=EBI-80125, EBI-80140; P63279:UBE2I; NbExp=3; IntAct=EBI-80125, EBI-80168; Q9UKY1:ZHX1; NbExp=4; IntAct=EBI-6083193, EBI-347767; Nucleus. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q9UBC3-1; Sequence=Displayed; Name=2; IsoId=Q9UBC3-2; Sequence=VSP_005637; Name=3; IsoId=Q9UBC3-3; Sequence=VSP_005637, VSP_005638; Name=4; IsoId=Q9UBC3-4; Sequence=VSP_005637, VSP_005639, VSP_005640; Name=5; IsoId=Q9UBC3-5; Sequence=VSP_005637, VSP_005641; Name=6; IsoId=Q9UBC3-6; Sequence=VSP_005636, VSP_005637; Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expressed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate. The PWWP domain is essential for targeting to pericentric heterochromatin. Sumoylated. Defects in DNMT3B are a cause of immunodeficiency- centromeric instability-facial anomalies syndrome type 1 (ICF1) [MIM:242860]. A rare disorder characterized by a variable immunodeficiency, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. Belongs to the C5-methyltransferase family. Contains 1 ADD domain. Contains 1 GATA-type zinc finger. Contains 1 PHD-type zinc finger. Contains 1 PWWP domain. Name=DNMT3Bbase; Note=DNMT3B mutation db; URL="http://bioinf.uta.fi/DNMT3Bbase/"; negative regulation of transcription from RNA polymerase II promoter response to hypoxia DNA binding chromatin binding transcription corepressor activity DNA (cytosine-5-)-methyltransferase activity protein binding nucleus nucleoplasm DNA methylation methyltransferase activity DNA-methyltransferase activity response to toxic substance response to ionizing radiation regulation of gene expression positive regulation of gene expression response to activity transferase activity response to caffeine methylation response to estradiol response to vitamin A response to cocaine response to drug histone deacetylase binding intracellular membrane-bounded organelle positive regulation of neuron differentiation negative regulation of gene expression, epigenetic metal ion binding positive regulation of histone H3-K4 methylation negative regulation of histone H3-K9 methylation cellular response to hyperoxia cellular response to dexamethasone stimulus C-5 methylation of cytosine  uc002wyf.1 uc002wyf.2 uc002wyf.3 
ENST00000201979.3 REM1 ENST00000201979.3 Homo sapiens RRAD and GEM like GTPase 1 (REM1), mRNA. (from RefSeq NM_014012) E1P5L1 ENST00000201979.1 ENST00000201979.2 GES NM_014012 O75628 Q5TZR7 Q5TZR8 Q9NP57 REM REM1_HUMAN uc002wwa.1 uc002wwa.2 uc002wwa.3 uc002wwa.4 uc002wwa.5 uc002wwa.6 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.462911.1, AF152863.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000201979.3/ ENSP00000201979.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling. In vitro, interacts with calmodulin in a calcium- dependent manner. Most highly expressed in the endothelial lining of the blood vessels in uterus and heart. Lower levels found in spleen, lymph node, kidney and testis. Also found in cells with secretory function such as the islets of Langerhans, lobule/duct epithelium in the breast, bile duct epithelium in the liver, surface epithelium in the endometrial glands of the uterus, colon mucosa and acinar cells in the pancreas and the prostate. Belongs to the small GTPase superfamily. RGK family. nucleotide binding GTPase activity calcium channel regulator activity calmodulin binding GTP binding plasma membrane signal transduction membrane negative regulation of high voltage-gated calcium channel activity  uc002wwa.1 uc002wwa.2 uc002wwa.3 uc002wwa.4 uc002wwa.5 uc002wwa.6 
ENST00000202017.6 PDRG1 ENST00000202017.6 Homo sapiens p53 and DNA damage regulated 1 (PDRG1), mRNA. (from RefSeq NM_030815) B2R511 C20orf126 ENST00000202017.1 ENST00000202017.2 ENST00000202017.3 ENST00000202017.4 ENST00000202017.5 NM_030815 PDRG PDRG1_HUMAN Q96GP3 Q9BUW8 Q9NUG6 uc002wxd.1 uc002wxd.2 uc002wxd.3 uc002wxd.4 uc002wxd.5 May play a role in chaperone-mediated protein folding (Potential). Cytoplasm (Potential). Predominantly expressed in normal testis and exhibits reduced but detectable expression in other organs. By UV irradiation and repressed by p53/TP53. Belongs to the prefoldin subunit beta family. protein binding cytoplasm protein folding prefoldin complex unfolded protein binding  uc002wxd.1 uc002wxd.2 uc002wxd.3 uc002wxd.4 uc002wxd.5 
ENST00000202028.9 EPB41L1 ENST00000202028.9 Homo sapiens erythrocyte membrane protein band 4.1 like 1 (EPB41L1), transcript variant 5, mRNA. (from RefSeq NM_001258331) E41L1_HUMAN ENST00000202028.1 ENST00000202028.2 ENST00000202028.3 ENST00000202028.4 ENST00000202028.5 ENST00000202028.6 ENST00000202028.7 ENST00000202028.8 KIAA0338 NM_001258331 O15046 Q4VXM6 Q4VXM7 Q4VXM8 Q4VXN4 Q6ZT61 Q8IUU7 Q96CV5 Q96L65 Q9H4G0 uc002xeu.1 uc002xeu.2 uc002xeu.3 uc002xeu.4 Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]. May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases. Interacts with AGAP2. Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H4G0-1; Sequence=Displayed; Name=2; IsoId=Q9H4G0-2; Sequence=VSP_023958, VSP_023961, VSP_023963; Name=3; IsoId=Q9H4G0-3; Sequence=VSP_023958, VSP_023960, VSP_023961; Note=No experimental confirmation available; Name=4; IsoId=Q9H4G0-4; Sequence=VSP_023959, VSP_023961, VSP_023962; Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle. Defects in EPB41L1 are the cause of mental retardation autosomal dominant type 11 (MRD11) [MIM:614257]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Contains 1 FERM domain. Sequence=BAA20796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; actin binding structural molecule activity protein binding cytoplasm cytosol cytoskeleton plasma membrane cytoskeletal protein binding cortical actin cytoskeleton organization actomyosin structure organization  uc002xeu.1 uc002xeu.2 uc002xeu.3 uc002xeu.4 
ENST00000202556.14 PPP1R13B ENST00000202556.14 Homo sapiens protein phosphatase 1 regulatory subunit 13B (PPP1R13B), mRNA. (from RefSeq NM_015316) ASPP1 ASPP1_HUMAN B2RMX5 ENST00000202556.1 ENST00000202556.10 ENST00000202556.11 ENST00000202556.12 ENST00000202556.13 ENST00000202556.2 ENST00000202556.3 ENST00000202556.4 ENST00000202556.5 ENST00000202556.6 ENST00000202556.7 ENST00000202556.8 ENST00000202556.9 KIAA0771 NM_015316 O94870 Q96KQ4 uc001yof.1 uc001yof.2 uc001yof.3 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035446.1, AJ318887.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000202556.14/ ENSP00000202556.9 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Interacts with TP53. Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Some fraction is nuclear. Reduced expression in breast carcinomas expressing a wild-type TP53 protein. The ankyrin repeats and the SH3 domain are required for specific interactions with TP53. In contrast to its official gene name, it is not a regulatory subunit of protein phosphatase 1. This name was given due to its similarity with a protein that binds to protein phosphatase 1. Belongs to the ASPP family. Contains 2 ANK repeats. Contains 1 SH3 domain. p53 binding protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol plasma membrane apoptotic process transcription factor binding regulation of apoptotic process negative regulation of cell cycle perinuclear region of cytoplasm intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway positive regulation of neuron death regulation of signal transduction by p53 class mediator  uc001yof.1 uc001yof.2 uc001yof.3 
ENST00000202625.7 TGM6 ENST00000202625.7 Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. (from RefSeq NM_198994) ENST00000202625.1 ENST00000202625.2 ENST00000202625.3 ENST00000202625.4 ENST00000202625.5 ENST00000202625.6 NM_198994 O95932 Q5JXU4 Q5JXU5 Q719M2 Q719M3 Q9Y4U8 TGM3L TGM3L_HUMAN uc002wfy.1 uc002wfy.2 The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins (By similarity). Protein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3). Binds 1 calcium ion per subunit (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=O95932-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=O95932-2; Sequence=VSP_015103, VSP_015104; Defects in TGM6 are the cause of spinocerebellar ataxia type 35 (SCA35) [MIM:613908]. A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment. Belongs to the transglutaminase superfamily. Transglutaminase family. protein-glutamine gamma-glutamyltransferase activity cytoplasm transferase activity transferase activity, transferring acyl groups peptide cross-linking metal ion binding  uc002wfy.1 uc002wfy.2 
ENST00000202677.12 RALGAPA2 ENST00000202677.12 Homo sapiens Ral GTPase activating protein catalytic subunit alpha 2 (RALGAPA2), mRNA. (from RefSeq NM_020343) C20orf74 ENST00000202677.1 ENST00000202677.10 ENST00000202677.11 ENST00000202677.2 ENST00000202677.3 ENST00000202677.4 ENST00000202677.5 ENST00000202677.6 ENST00000202677.7 ENST00000202677.8 ENST00000202677.9 KIAA1272 NM_020343 Q2PPJ7 Q4VXU6 Q5JUA3 Q5JUA4 Q5T9K3 Q96CX9 Q9BQT7 Q9H9D9 Q9ULE8 RGPA2_HUMAN uc002wrz.1 uc002wrz.2 uc002wrz.3 uc002wrz.4 uc002wrz.5 Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB (By similarity). Component of the heterodimeric RalGAP2 complex with RALGAPB. Heterodimerization is required for activity (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q2PPJ7-1; Sequence=Displayed; Name=2; IsoId=Q2PPJ7-2; Sequence=VSP_025247; Name=3; IsoId=Q2PPJ7-3; Sequence=VSP_025248; Contains 1 Rap-GAP domain. Sequence=AAH13749.1; Type=Frameshift; Positions=1600, 1843; Sequence=BAB14290.1; Type=Erroneous initiation; Sequence=CAI39939.1; Type=Erroneous gene model prediction; Sequence=CAI40814.1; Type=Erroneous gene model prediction; Sequence=CAI95626.1; Type=Erroneous gene model prediction; GTPase activator activity extracellular space nucleus cytoplasm cytosol plasma membrane positive regulation of GTPase activity protein heterodimerization activity regulation of small GTPase mediated signal transduction activation of GTPase activity  uc002wrz.1 uc002wrz.2 uc002wrz.3 uc002wrz.4 uc002wrz.5 
ENST00000202773.14 RPL6 ENST00000202773.14 Homo sapiens ribosomal protein L6 (RPL6), transcript variant 8, mRNA. (from RefSeq NM_001320142) ENST00000202773.1 ENST00000202773.10 ENST00000202773.11 ENST00000202773.12 ENST00000202773.13 ENST00000202773.2 ENST00000202773.3 ENST00000202773.4 ENST00000202773.5 ENST00000202773.6 ENST00000202773.7 ENST00000202773.8 ENST00000202773.9 NM_001320142 Q02878 Q2M3Q3 Q8WW97 RL6_HUMAN TXREB1 uc001ttv.1 uc001ttv.2 uc001ttv.3 uc001ttv.4 uc001ttv.5 This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Specifically binds to domain C of the Tax-responsive enhancer element in the long terminal repeat of HTLV-I. May bind IPO9 with low affinity. Belongs to the ribosomal protein L6e family. ribosomal large subunit assembly nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation DNA binding RNA binding structural constituent of ribosome nucleus cytoplasm endoplasmic reticulum rough endoplasmic reticulum cytosol ribosome focal adhesion regulation of transcription, DNA-templated translation translational initiation SRP-dependent cotranslational protein targeting to membrane postsynaptic density membrane viral transcription cytosolic large ribosomal subunit cytoplasmic ribonucleoprotein granule polysomal ribosome synapse cadherin binding  uc001ttv.1 uc001ttv.2 uc001ttv.3 uc001ttv.4 uc001ttv.5 
ENST00000202816.5 ESF1 ENST00000202816.5 Homo sapiens ESF1 nucleolar pre-rRNA processing protein homolog (ESF1), transcript variant 1, mRNA. (from RefSeq NM_016649) ABTAP C20orf6 ENST00000202816.1 ENST00000202816.2 ENST00000202816.3 ENST00000202816.4 ESF1_HUMAN HDCMC28P NM_016649 Q86X92 Q9H501 Q9H9Q5 Q9HA35 Q9NX93 Q9P1S6 uc002woj.1 uc002woj.2 uc002woj.3 May constitute a novel regulatory system for basal transcription. Negatively regulates ABT1 (By similarity). Interacts with ABT1. Forms a complex with ABT1 and suppresses the ABT1-induced activation of polymerase II-directed transcription in mammalian cells (By similarity). Nucleus, nucleolus (By similarity). Nucleus, nucleoplasm (By similarity). Belongs to the ESF1 family. Sequence=AAF65504.1; Type=Frameshift; Positions=664; Sequence=BAA91123.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB14167.1; Type=Erroneous initiation; RNA binding extracellular space nucleus nucleoplasm nucleolus rRNA processing  uc002woj.1 uc002woj.2 uc002woj.3 
ENST00000202831.7 SLC8B1 ENST00000202831.7 Homo sapiens solute carrier family 8 member B1 (SLC8B1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_024959) A6NP50 ENST00000202831.1 ENST00000202831.2 ENST00000202831.3 ENST00000202831.4 ENST00000202831.5 ENST00000202831.6 NCKX6 NCKX6_HUMAN NCLX NM_024959 Q4KMS9 Q6J4K1 Q6J4K2 Q9H6I8 SLC24A6 uc001tvc.1 uc001tvc.2 uc001tvc.3 uc001tvc.4 SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]. Transports Ca(2+) in exchange for either Li(+) or Na(+), explaining how Li(+) catalyzes Ca(2+) exchange. In contrast to other members of the family its function is independent of K(+). Strongly inhibited by zinc. Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6J4K2-1; Sequence=Displayed; Name=2; Synonyms=S-NCLX; IsoId=Q6J4K2-2; Sequence=VSP_016996; Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily. Sequence=BAB15271.1; Type=Erroneous initiation; calcium:sodium antiporter activity mitochondrion mitochondrial inner membrane plasma membrane ion transport sodium ion transport calcium ion transport mitochondrial calcium ion transport antiporter activity calcium:cation antiporter activity membrane integral component of membrane mitochondrial crista integral component of mitochondrial membrane sodium ion transmembrane transport sarcolemma glucose homeostasis identical protein binding protein homodimerization activity regulation of insulin secretion response to stimulus regulation of cytosolic calcium ion concentration mitochondrial calcium ion homeostasis transmembrane transport calcium ion transmembrane transport regulation of cardiac muscle cell membrane potential calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential mitochondrial calcium release regulation of lymphocyte chemotaxis regulation of store-operated calcium entry  uc001tvc.1 uc001tvc.2 uc001tvc.3 uc001tvc.4 
ENST00000202834.11 TMEM230 ENST00000202834.11 Homo sapiens transmembrane protein 230 (TMEM230), transcript variant 4, mRNA. (from RefSeq NM_001009925) B2RDM8 C20orf30 D3DVZ9 ENST00000202834.1 ENST00000202834.10 ENST00000202834.2 ENST00000202834.3 ENST00000202834.4 ENST00000202834.5 ENST00000202834.6 ENST00000202834.7 ENST00000202834.8 ENST00000202834.9 HSPC274 NM_001009925 Q0VGC8 Q5TDS5 Q96A57 Q96ES2 Q9P0A7 TM230_HUMAN UNQ2432/PRO4992 uc002wlm.1 uc002wlm.2 uc002wlm.3 uc002wlm.4 This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=Q96A57-1; Sequence=Displayed; Name=1; IsoId=Q96A57-2; Sequence=VSP_018155; Note=Ref.1 (AAF28952) sequence differs from that shown due to several frameshifts; Belongs to the TMEM134/TMEM230 family. endosome early endosome late endosome autophagosome endoplasmic reticulum Golgi apparatus trans-Golgi network synaptic vesicle membrane integral component of membrane cell junction cytoplasmic vesicle synapse synaptic vesicle transport recycling endosome  uc002wlm.1 uc002wlm.2 uc002wlm.3 uc002wlm.4 
ENST00000202917.10 OAS1 ENST00000202917.10 Homo sapiens 2'-5'-oligoadenylate synthetase 1 (OAS1), transcript variant 1, mRNA. (from RefSeq NM_016816) A8K4N8 ENST00000202917.1 ENST00000202917.2 ENST00000202917.3 ENST00000202917.4 ENST00000202917.5 ENST00000202917.6 ENST00000202917.7 ENST00000202917.8 ENST00000202917.9 NM_016816 OAS1_HUMAN OIAS P00973 P04820 P29080 P29081 P78485 P78486 Q16700 Q16701 Q1PG42 Q3ZM01 Q53GC5 Q53YA4 Q6A1Z3 Q6IPC6 Q6P7N9 Q96J61 uc001tud.1 uc001tud.2 uc001tud.3 uc001tud.4 uc001tud.5 This gene is induced by interferons and encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]. Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. The secreted form displays antiviral effect against vesicular stomatitis virus (VSV), herpes simplex virus type 2 (HSV-2), and encephalomyocarditis virus (EMCV) and stimulates the alternative antiviral pathway independent of RNase L. Binds double-stranded RNA and polymerizes ATP into PPP(A2'P5'A)N oligomers, which activate the latent RNase L that, when activated, cleaves single-stranded RNAs. Magnesium (Potential). Produced as a latent enzyme which is activated by dsRNA generated during the course of viral infection. The dsRNA activator must be at least 15 nucleotides long, and no modification of the 2'-hydroxyl group is tolerated. ssRNA or dsDNA do not act as activators. Kinetic parameters: KM=0.31 mM for ATP; Monomer (By similarity). Homotetramer. Cytoplasm. Mitochondrion. Nucleus. Microsome. Endoplasmic reticulum. Secreted (By similarity). Note=Associated with different subcellular fractions such as mitochondrial, nuclear, and rough/smooth microsomal fractions. Event=Alternative splicing; Named isoforms=4; Name=p46; Synonyms=46 kDa, E18; IsoId=P00973-1; Sequence=Displayed; Name=p41; Synonyms=41 kDa, E16, 3-9; IsoId=P00973-2; Sequence=VSP_003738, VSP_003739; Name=p48; Synonyms=9-2; IsoId=P00973-3; Sequence=VSP_003740; Note=Ref.4 (AAA39858), Ref.6 (AAW63050) and Ref.16 (CAA26497) sequences are in conflict in position: 397:G->R; Name=p44; IsoId=P00973-4; Sequence=VSP_027804, VSP_027805; By type I interferon (IFN) and viruses. Belongs to the 2-5A synthase family. PubMed:1651324 sequence was originally thought to originate from mouse. Sequence=AAA39857.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA39858.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA59955.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD96726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA26497.1; Type=Erroneous gene model prediction; Sequence=CAA30164.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding 2'-5'-oligoadenylate synthetase activity immune system process RNA binding double-stranded RNA binding protein binding ATP binding extracellular region nucleus nucleoplasm cytoplasm mitochondrion endoplasmic reticulum cytosol glucose metabolic process purine nucleotide biosynthetic process immune response response to virus transferase activity nucleotidyltransferase activity cellular response to interferon-alpha glucose homeostasis intracellular membrane-bounded organelle negative regulation of viral genome replication innate immune response metal ion binding protein oligomerization defense response to virus interferon-gamma-mediated signaling pathway type I interferon signaling pathway regulation of ribonuclease activity  uc001tud.1 uc001tud.2 uc001tud.3 uc001tud.4 uc001tud.5 
ENST00000202967.4 SIRT4 ENST00000202967.4 Homo sapiens sirtuin 4 (SIRT4), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012240) ENST00000202967.1 ENST00000202967.2 ENST00000202967.3 NM_012240 O43346 Q32M33 Q9Y6E7 SIR2L4 SIR4_HUMAN uc001tyc.1 uc001tyc.2 uc001tyc.3 uc001tyc.4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF083109.1, BC034736.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## NAD-dependent protein ADP-ribosyl transferase. Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1. Inhibits GLUD1 enzyme activity. Down- regulates insulin secretion. Has no detectable protein deacetylase activity. NAD(+) + a protein = nicotinamide + an N-(ADP- D-ribosyl)-protein. NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein. Binds 1 zinc ion per subunit (By similarity). Interacts with GLUD1, IDE and SLC25A5. P05141:SLC25A5; NbExp=2; IntAct=EBI-2606540, EBI-355133; Mitochondrion matrix. Detected in vascular smooth muscle and striated muscle. Detected in insulin-producing beta-cells in pancreas islets of Langerhans (at protein level). Widely expressed. Weakly expressed in leukocytes and fetal thymus. The reported ADP-ribosyltransferase activity of sirtuins may be an inefficient side reaction of the deacetylase activity and may not be physiologically relevant (By similarity). Belongs to the sirtuin family. Class II subfamily. Contains 1 deacetylase sirtuin-type domain. Sequence=AAB95634.1; Type=Erroneous gene model prediction; regulation of glutamine family amino acid metabolic process NAD+ ADP-ribosyltransferase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial matrix protein ADP-ribosylation protein deacetylation glutamine metabolic process cellular response to DNA damage stimulus mitochondrion organization zinc ion binding negative regulation of cardiac muscle cell apoptotic process transferase activity hydrolase activity peptidyl-lysine deacetylation negative regulation of fatty acid oxidation negative regulation of insulin secretion metal ion binding positive regulation of lipid biosynthetic process biotinidase activity lipoamidase activity NAD+ binding cellular response to hypoxia tricarboxylic acid metabolic process negative regulation of protein processing involved in protein targeting to mitochondrion regulation of pyruvate dehydrogenase activity NAD-dependent protein deacetylase activity  uc001tyc.1 uc001tyc.2 uc001tyc.3 uc001tyc.4 
ENST00000203001.7 TRMT6 ENST00000203001.7 Homo sapiens tRNA methyltransferase 6 (TRMT6), transcript variant 1, mRNA. (from RefSeq NM_015939) CGI-09 ENST00000203001.1 ENST00000203001.2 ENST00000203001.3 ENST00000203001.4 ENST00000203001.5 ENST00000203001.6 KIAA1153 NM_015939 Q76P92 Q9BQV5 Q9UJA5 Q9ULR7 Q9Y2Z8 TRM6 TRM6_HUMAN uc002wmh.1 uc002wmh.2 uc002wmh.3 uc002wmh.4 This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Substrate-binding subunit of tRNA (adenine-N(1)-)- methyltransferase, which catalyzes the formation of N(1)- methyladenine at position 58 (m1A58) in initiator methionyl-tRNA. tRNA (adenine-N(1)-)-methyltransferase is a heterodimer of TRM6 and TRM61. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UJA5-1; Sequence=Displayed; Name=2; IsoId=Q9UJA5-2; Sequence=VSP_018025; Name=3; IsoId=Q9UJA5-3; Sequence=VSP_031100, VSP_031101; Note=No experimental confirmation available; Expressed in brain, liver, testis and ovary. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the TRM6/GCD10 family. Sequence=BAA86467.1; Type=Erroneous initiation; Sequence=BAA86467.1; Type=Frameshift; Positions=319; RNA binding protein binding nucleus nucleoplasm tRNA modification tRNA processing tRNA methylation tRNA (m1A) methyltransferase complex mRNA methylation tRNA (adenine-N1-)-methyltransferase activity  uc002wmh.1 uc002wmh.2 uc002wmh.3 uc002wmh.4 
ENST00000203166.10 HAUS5 ENST00000203166.10 Homo sapiens HAUS augmin like complex subunit 5 (HAUS5), mRNA. (from RefSeq NM_015302) B2RXK1 ENST00000203166.1 ENST00000203166.2 ENST00000203166.3 ENST00000203166.4 ENST00000203166.5 ENST00000203166.6 ENST00000203166.7 ENST00000203166.8 ENST00000203166.9 HAUS5_HUMAN KIAA0841 NM_015302 O94927 Q6P2P7 Q7L3D5 Q96CT8 uc002oam.1 uc002oam.2 uc002oam.3 HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.78718.1, AB020648.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000203166.10/ ENSP00000439056.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94927-1; Sequence=Displayed; Name=2; IsoId=O94927-2; Sequence=VSP_013927, VSP_013928; Belongs to the HAUS5 family. Sequence=AAH13947.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA74864.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; G2/M transition of mitotic cell cycle molecular_function protein binding cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule cell cycle centrosome cycle regulation of G2/M transition of mitotic cell cycle spindle assembly cell division HAUS complex ciliary basal body docking  uc002oam.1 uc002oam.2 uc002oam.3 
ENST00000203407.6 UQCRC1 ENST00000203407.6 Homo sapiens ubiquinol-cytochrome c reductase core protein 1 (UQCRC1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_003365) B2R7R8 ENST00000203407.1 ENST00000203407.2 ENST00000203407.3 ENST00000203407.4 ENST00000203407.5 NM_003365 P31930 Q96DD2 QCR1_HUMAN uc003cub.1 uc003cub.2 uc003cub.3 This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1. The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1). Mitochondrion inner membrane. Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily. Does not seem to have a protease activity as it lack the zinc-binding site. catalytic activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain mitochondrial respiratory chain complex III cytosol oxidative phosphorylation mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity aerobic respiration response to activity membrane ubiquitin protein ligase binding response to alkaloid macromolecular complex binding metal ion binding oxidation-reduction process respiratory chain  uc003cub.1 uc003cub.2 uc003cub.3 
ENST00000203556.9 GMIP ENST00000203556.9 Homo sapiens GEM interacting protein (GMIP), transcript variant 1, mRNA. (from RefSeq NM_016573) A0AVN9 ENST00000203556.1 ENST00000203556.2 ENST00000203556.3 ENST00000203556.4 ENST00000203556.5 ENST00000203556.6 ENST00000203556.7 ENST00000203556.8 GMIP_HUMAN NM_016573 Q9P107 uc002nnd.1 uc002nnd.2 uc002nnd.3 uc002nnd.4 uc002nnd.5 uc002nnd.6 This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. Stimulates, in vitro and in vivo, the GTPase activity of RhoA. Interacts with GEM through its N-terminal. Contains 1 phorbol-ester/DAG-type zinc finger. Contains 1 Rho-GAP domain. GTPase activator activity protein binding nucleoplasm cytosol plasma membrane signal transduction negative regulation of GTPase activity intracellular signal transduction positive regulation of GTPase activity metal ion binding regulation of small GTPase mediated signal transduction  uc002nnd.1 uc002nnd.2 uc002nnd.3 uc002nnd.4 uc002nnd.5 uc002nnd.6 
ENST00000203629.3 LAG3 ENST00000203629.3 Homo sapiens lymphocyte activating 3 (LAG3), mRNA. (from RefSeq NM_002286) A8K7T9 ENST00000203629.1 ENST00000203629.2 FDC LAG3_HUMAN NM_002286 P18627 uc001qqt.1 uc001qqt.2 uc001qqt.3 uc001qqt.4 uc001qqt.5 uc001qqt.6 Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by published experimental evidence. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.544442.1, AK292104.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000203629.3/ ENSP00000203629.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in lymphocyte activation. Binds to HLA class-II antigens. Membrane; Single-pass type I membrane protein. On cell surface of activated NK and T- lymphocytes. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. adaptive immune response plasmacytoid dendritic cell activation immune system process antigen binding transmembrane signaling receptor activity protein binding extracellular region plasma membrane cell surface receptor signaling pathway external side of plasma membrane membrane integral component of membrane antigen processing and presentation of exogenous peptide antigen via MHC class II MHC class II protein binding negative regulation of interleukin-2 biosynthetic process negative regulation of regulatory T cell differentiation positive regulation of natural killer cell mediated cytotoxicity regulation of immune response negative regulation of T cell activation  uc001qqt.1 uc001qqt.2 uc001qqt.3 uc001qqt.4 uc001qqt.5 uc001qqt.6 
ENST00000203630.10 MLF2 ENST00000203630.10 Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 2, mRNA. (from RefSeq NM_001382226) ENST00000203630.1 ENST00000203630.2 ENST00000203630.3 ENST00000203630.4 ENST00000203630.5 ENST00000203630.6 ENST00000203630.7 ENST00000203630.8 ENST00000203630.9 NM_001382226 Q5U0N1 Q5U0N1_HUMAN hCG_25928 uc001qqp.1 uc001qqp.2 uc001qqp.3 uc001qqp.4 uc001qqp.5 nucleus  uc001qqp.1 uc001qqp.2 uc001qqp.3 uc001qqp.4 uc001qqp.5 
ENST00000203664.10 OTUB2 ENST00000203664.10 Homo sapiens OTU deubiquitinase, ubiquitin aldehyde binding 2 (OTUB2), mRNA. (from RefSeq NM_023112) C14orf137 ENST00000203664.1 ENST00000203664.2 ENST00000203664.3 ENST00000203664.4 ENST00000203664.5 ENST00000203664.6 ENST00000203664.7 ENST00000203664.8 ENST00000203664.9 NM_023112 OTB2 OTU2 OTUB2_HUMAN Q6IA10 Q96DC9 Q9H6T1 uc001yci.1 uc001yci.2 uc001yci.3 uc001yci.4 uc001yci.5 This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK025569.1, SRR1803612.175176.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000203664.10/ ENSP00000203664.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of both 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains, with a preference for 'Lys-63'-linked polyubiquitin chains. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96DC9-1; Sequence=Displayed; Name=2; IsoId=Q96DC9-2; Sequence=VSP_009465; Note=No experimental confirmation available; Widely expressed. Expressed at higher level in brain. In the structure described by PubMed:15258613, the Asp-48 active site of the catalytic triad is located too far to interact directly with the active site His-224. A possible explanation is that OTUB2 is in inactive conformation in absence of ubiquitin and a conformation change may move Asp-48 in the proximity of His-224 in presence of ubiquitin substrate. Belongs to the peptidase C65 family. Contains 1 OTU domain. thiol-dependent ubiquitin-specific protease activity protein binding nucleus proteolysis peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity NEDD8-specific protease activity protein K11-linked deubiquitination thiol-dependent ubiquitinyl hydrolase activity ubiquitin binding protein K63-linked deubiquitination protein K48-linked deubiquitination  uc001yci.1 uc001yci.2 uc001yci.3 uc001yci.4 uc001yci.5 
ENST00000204005.13 LTBP4 ENST00000204005.13 Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 2, mRNA. (from RefSeq NM_003573) A0A0C4DH07 ENST00000204005.1 ENST00000204005.10 ENST00000204005.11 ENST00000204005.12 ENST00000204005.2 ENST00000204005.3 ENST00000204005.4 ENST00000204005.5 ENST00000204005.6 ENST00000204005.7 ENST00000204005.8 ENST00000204005.9 NM_003573 uc032hxo.1 uc032hxo.2 The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].  uc032hxo.1 uc032hxo.2 
ENST00000204517.11 TFAP4 ENST00000204517.11 Homo sapiens transcription factor AP-4 (TFAP4), mRNA. (from RefSeq NM_003223) BHLHC41 ENST00000204517.1 ENST00000204517.10 ENST00000204517.2 ENST00000204517.3 ENST00000204517.4 ENST00000204517.5 ENST00000204517.6 ENST00000204517.7 ENST00000204517.8 ENST00000204517.9 NM_003223 O60409 Q01664 TFAP4_HUMAN uc010uxg.1 uc010uxg.2 uc010uxg.3 uc010uxg.4 Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: S73885.1, SRR3476690.494405.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145245, SAMEA2467147 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000204517.11/ ENSP00000204517.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'- CAGCTG-3'. Efficient DNA binding requires dimerization with another bHLH protein. Homodimer. Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus mitochondrion regulation of transcription from RNA polymerase II promoter DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator negative regulation of cell proliferation negative regulation of gene expression transcriptional repressor complex protein homodimerization activity histone deacetylase binding positive regulation of apoptotic process negative regulation of DNA binding sequence-specific DNA binding negative regulation by host of viral transcription positive regulation by host of viral transcription transcription regulatory region DNA binding negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity macromolecular complex assembly E-box binding negative regulation of cell cycle arrest cellular response to dexamethasone stimulus regulation of mitotic cell cycle phase transition positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway transcription coactivator activity protein heterodimerization activity  uc010uxg.1 uc010uxg.2 uc010uxg.3 uc010uxg.4 
ENST00000204549.9 PDCD7 ENST00000204549.9 Homo sapiens programmed cell death 7 (PDCD7), mRNA. (from RefSeq NM_005707) ENST00000204549.1 ENST00000204549.2 ENST00000204549.3 ENST00000204549.4 ENST00000204549.5 ENST00000204549.6 ENST00000204549.7 ENST00000204549.8 NM_005707 PDCD7_HUMAN Q8N8D1 Q96AK8 Q9Y6D7 uc002aol.1 uc002aol.2 uc002aol.3 uc002aol.4 This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: AK096970.1, SRR1803613.51790.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2159764, SAMN03267755 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000204549.9/ ENSP00000204549.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Promotes apoptosis when overexpressed (By similarity). Interacts with RBM40. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Nucleus (Potential). mRNA splicing, via spliceosome nucleus nucleoplasm U12-type spliceosomal complex apoptotic process RNA splicing response to glucocorticoid  uc002aol.1 uc002aol.2 uc002aol.3 uc002aol.4 
ENST00000204566.7 SPG21 ENST00000204566.7 Homo sapiens SPG21 abhydrolase domain containing, maspardin (SPG21), transcript variant 1, mRNA. (from RefSeq NM_016630) ACP33 B4DW44 BM-019 ENST00000204566.1 ENST00000204566.2 ENST00000204566.3 ENST00000204566.4 ENST00000204566.5 ENST00000204566.6 GL010 NM_016630 Q6ZMB6 Q9NZD8 SPG21_HUMAN uc002aoe.1 uc002aoe.2 uc002aoe.3 uc002aoe.4 uc002aoe.5 uc002aoe.6 The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. May play a role as a negative regulatory factor in CD4- dependent T-cell activation. Interacts with CD4. Interacts with ALDH16A1. Cytoplasm, cytosol. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Note=Partially localized in the cytosol but also accumulated on an intracellular vesicular compartment. Colocalizes with CD4 on endosomal/trans-Golgi network. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZD8-1; Sequence=Displayed; Name=2; IsoId=Q9NZD8-2; Sequence=VSP_041512; Note=No experimental confirmation available; Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in J.CaM1.6, HuT 78 and HeLa cell lines (at protein level). Defects in SPG21 are the cause of spastic paraplegia autosomal recessive type 21 (SPG21) [MIM:248900]; also known as Mast syndrome. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities. Belongs to the AB hydrolase superfamily. protein binding cytoplasm endosome Golgi apparatus cytosol endosome membrane membrane trans-Golgi network transport vesicle CD4 receptor binding intracellular membrane-bounded organelle antigen receptor-mediated signaling pathway  uc002aoe.1 uc002aoe.2 uc002aoe.3 uc002aoe.4 uc002aoe.5 uc002aoe.6 
ENST00000204604.6 CHRD ENST00000204604.6 Homo sapiens chordin (CHRD), transcript variant 1, mRNA. (from RefSeq NM_003741) CHRD_HUMAN ENST00000204604.1 ENST00000204604.2 ENST00000204604.3 ENST00000204604.4 ENST00000204604.5 NM_003741 O95254 Q2M1I8 Q6UW83 Q9H2D3 Q9H2W8 Q9H2W9 Q9H2X0 Q9P0Z2 Q9P0Z3 Q9P0Z4 Q9P0Z5 UNQ217/PRO243 uc003fov.1 uc003fov.2 uc003fov.3 uc003fov.4 This gene encodes a secreted protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta-like bone morphogenetic proteins and sequestering them in latent complexes. The encoded protein may also have roles in organogenesis and during adulthood. It has been suggested that this gene could be a candidate gene for Cornelia de Lange syndrome. Reduced expression of this gene results in enhanced bone regeneration. Alternative splicing results in multiple transcript variants. Other alternative splice variants have been described but their full length sequence has not been determined. [provided by RefSeq, Jan 2015]. Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes (By similarity). Interacts with TWSG1 and/or BMP4 (By similarity). P84022:SMAD3; NbExp=2; IntAct=EBI-947551, EBI-347161; Secreted (By similarity). Event=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9H2X0-1; Sequence=Displayed; Name=2; IsoId=Q9H2X0-2; Sequence=VSP_001069, VSP_001070; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=Q9H2X0-3; Sequence=VSP_001071, VSP_001072; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=4; IsoId=Q9H2X0-4; Sequence=VSP_001073, VSP_001074; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=5; IsoId=Q9H2X0-5; Sequence=VSP_001075; Expressed at the highest level in liver. Cleaved by tolloid proteases; cleavage participates in dorsoventral patterning during early development (By similarity). Belongs to the chordin family. Contains 4 CHRD domains. Contains 4 VWFC domains. skeletal system development osteoblast differentiation gastrulation with mouth forming second mesoderm formation positive regulation of mesenchymal cell proliferation protein binding extracellular region extracellular space multicellular organism development pattern specification process central nervous system development heparin binding dorsal/ventral pattern formation cytokine binding BMP signaling pathway involved in spinal cord dorsal/ventral patterning negative regulation of cell migration negative regulation of BMP signaling pathway forebrain development floor plate development syndecan binding negative regulation of osteoblast differentiation positive regulation of cell adhesion  uc003fov.1 uc003fov.2 uc003fov.3 uc003fov.4 
ENST00000204637.6 FLT3LG ENST00000204637.6 Homo sapiens fms related receptor tyrosine kinase 3 ligand (FLT3LG), transcript variant 5, mRNA. (from RefSeq NM_001278638) A0AVC2 B9EGH2 ENST00000204637.1 ENST00000204637.2 ENST00000204637.3 ENST00000204637.4 ENST00000204637.5 FLT3L_HUMAN NM_001278638 P49771 uc002pnv.1 uc002pnv.2 uc002pnv.3 uc002pnv.4 Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]. Stimulates the proliferation of early hematopoietic cells by activating FLT3. Synergizes well with a number of other colony stimulating factors and interleukins. Homodimer (isoform 2). Isoform 1: Cell membrane; Single-pass type I membrane protein. Isoform 2: Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Membrane-bound; IsoId=P49771-1; Sequence=Displayed; Name=2; Synonyms=Soluble; IsoId=P49771-2; Sequence=VSP_004251, VSP_004252; MAPK cascade positive regulation of protein phosphorylation receptor binding cytokine activity extracellular region extracellular space plasma membrane signal transduction positive regulation of cell proliferation cell surface membrane integral component of membrane cytokine-mediated signaling pathway lymphocyte differentiation regulation of myeloid dendritic cell activation receptor tyrosine kinase binding intrinsic component of external side of plasma membrane positive regulation of natural killer cell proliferation positive regulation of natural killer cell differentiation embryonic hemopoiesis positive regulation of myoblast differentiation positive regulation of cell cycle positive regulation of transcription from RNA polymerase II promoter homeostasis of number of cells within a tissue positive regulation of cell proliferation in bone marrow negative regulation of apoptotic process in bone marrow positive regulation of osteoclast proliferation positive regulation of myoblast fusion  uc002pnv.1 uc002pnv.2 uc002pnv.3 uc002pnv.4 
ENST00000204679.9 GNPTG ENST00000204679.9 Homo sapiens N-acetylglucosamine-1-phosphate transferase subunit gamma (GNPTG), mRNA. (from RefSeq NM_032520) B2R556 C16orf27 CAB56184 ENST00000204679.1 ENST00000204679.2 ENST00000204679.3 ENST00000204679.4 ENST00000204679.5 ENST00000204679.6 ENST00000204679.7 ENST00000204679.8 GNPTAG GNPTG_HUMAN LP2537 NM_032520 Q6XYD7 Q96L13 Q9UJJ9 uc002clm.1 uc002clm.2 uc002clm.3 uc002clm.4 uc002clm.5 This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK312067.1, SRR1660803.200444.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000204679.9/ ENSP00000204679.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May recognize the substrate of GlcNAc-1- phosphotransferase but also the lysosomal proteins with mannose-6- phosphate residues. Hexamer of two alpha, two beta and two gamma subunit; disulfide-linked. It is believed that the alpha and/or the beta subunit of the enzyme contain the catalytic portion and that the gamma subunit functions in recognition of the lysosomal enzymes. Secreted (By similarity). Golgi apparatus (By similarity). Widely expressed. Defects in GNPTG are the cause of mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]; also known as variant pseudo-Hurler polydystrophy. MLIIIC is an autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts. Contains 1 PRKCSH domain. Sequence=AAP34456.1; Type=Erroneous initiation; Golgi membrane UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity extracellular region Golgi apparatus membrane protein homodimerization activity intracellular membrane-bounded organelle carbohydrate phosphorylation extracellular exosome  uc002clm.1 uc002clm.2 uc002clm.3 uc002clm.4 uc002clm.5 
ENST00000204726.9 GOLGA3 ENST00000204726.9 Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. (from RefSeq NM_005895) A5PKX6 ENST00000204726.1 ENST00000204726.2 ENST00000204726.3 ENST00000204726.4 ENST00000204726.5 ENST00000204726.6 ENST00000204726.7 ENST00000204726.8 GOGA3_HUMAN NM_005895 O43241 Q08378 Q6P9C7 Q86XW3 Q8TDA9 Q8WZA3 uc001ukz.1 uc001ukz.2 uc001ukz.3 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]. Golgi auto-antigen; probably involved in maintaining Golgi structure. Homodimer. Interacts with GOLGA7. Isoform 1 interacts with GOPC while isoform 3 does not. Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Golgin-160B; IsoId=Q08378-1; Sequence=Displayed; Name=2; IsoId=Q08378-2; Sequence=VSP_007728, VSP_007729; Note=No experimental confirmation available. May be due to an intron retention; Name=3; IsoId=Q08378-4; Sequence=VSP_038000, VSP_038001; Note=No experimental confirmation available; Expressed in all tissues tested. Expressed in liver, testis, lung, heart, salivary gland and kidney. Extended rod-like protein with coiled-coil domains. Cleaved by caspases in apoptotic cells. Sequence=AAA35921.1; Type=Erroneous initiation; Sequence=AAH60826.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA23661.1; Type=Frameshift; Positions=1378; Golgi membrane protein binding nucleus nucleoplasm nucleolus cytoplasm Golgi apparatus cytosol intra-Golgi vesicle-mediated transport spermatogenesis membrane Golgi transport complex Golgi cisterna membrane cadherin binding extrinsic component of Golgi membrane  uc001ukz.1 uc001ukz.2 uc001ukz.3 
ENST00000204801.12 CD209 ENST00000204801.12 Homo sapiens CD209 molecule (CD209), transcript variant 6, mRNA. (from RefSeq NM_001144894) A8KAM4 A8MVQ9 CD209_HUMAN CLEC4L ENST00000204801.1 ENST00000204801.10 ENST00000204801.11 ENST00000204801.2 ENST00000204801.3 ENST00000204801.4 ENST00000204801.5 ENST00000204801.6 ENST00000204801.7 ENST00000204801.8 ENST00000204801.9 NM_001144894 Q2TB19 Q96QP7 Q96QP8 Q96QP9 Q96QQ0 Q96QQ1 Q96QQ2 Q96QQ3 Q96QQ4 Q96QQ5 Q96QQ6 Q96QQ7 Q96QQ8 Q9NNX6 uc002mhx.1 uc002mhx.2 uc002mhx.3 This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CLEC4M (Gene ID: 10332), also known as L-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression on the surface of dendritic cells. Polymorphisms in the neck region are associated with protection from HIV-1 infection, while single nucleotide polymorphisms in the promoter of this gene are associated with differing resistance and susceptibility to and severity of infectious disease, including rs4804803, which is associated with SARS severity. [provided by RefSeq, May 2020]. Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response. Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of pathogen antigens, including HIV-1 gp120, HIV-2 gp120, SIV gp120, ebolavirus glycoproteins, cytomegalovirus gB, HCV E2, dengue virus gE, Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri- mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA. On DCs it is a high affinity receptor for ICAM2 and ICAM3 by binding to mannose-like carbohydrates. May act as a DC rolling receptor that mediates transendothelial migration of DC presursors from blood to tissues by binding endothelial ICAM2. Seems to regulate DC-induced T-cell proliferation by binding to ICAM3 on T-cells in the immunological synapse formed between DC and T-cells. Homotetramer. Binds to many viral surface glycoproteins such as HIV-1 gp120, HIV-2 gp120, SIV gp120, ebolavirus envelope glycoproteins, cytomegalovirus gB, HCV E2 and dengue virus major envelope protein E. Isoform 1: Cell membrane; Single-pass type II membrane protein (Probable). Isoform 2: Cell membrane; Single-pass type II membrane protein (Probable). Isoform 3: Cell membrane; Single-pass type II membrane protein (Probable). Isoform 4: Cell membrane; Single-pass type II membrane protein (Probable). Isoform 5: Cell membrane; Single-pass type II membrane protein (Probable). Isoform 6: Secreted (Probable). Isoform 7: Secreted (Probable). Isoform 8: Secreted (Probable). Isoform 9: Secreted (Probable). Isoform 10: Secreted (Probable). Isoform 11: Secreted (Probable). Isoform 12: Secreted (Probable). Event=Alternative splicing; Named isoforms=12; Comment=Additional isoforms seem to exist. Several splicing events may be used independently in a modular way. Deletion of the transmembrane domain encoding exon through alternative splicing produces soluble isoforms; Name=1; Synonyms=mDC-SIGN1A type I; IsoId=Q9NNX6-1; Sequence=Displayed; Name=2; Synonyms=mDC-SIGN1A type II; IsoId=Q9NNX6-2; Sequence=VSP_010049; Name=3; Synonyms=mDC-SIGN1A type III; IsoId=Q9NNX6-3; Sequence=VSP_010044; Name=4; Synonyms=mDC-SIGN1A type IV; IsoId=Q9NNX6-4; Sequence=VSP_010042; Name=5; Synonyms=mDC-SIGN1B type I; IsoId=Q9NNX6-5; Sequence=VSP_010037; Name=6; Synonyms=sDC-SIGN1A type I; IsoId=Q9NNX6-6; Sequence=VSP_010041; Name=7; Synonyms=sDC-SIGN1A type II; IsoId=Q9NNX6-7; Sequence=VSP_010038; Name=8; Synonyms=sDC-SIGN1A type III; IsoId=Q9NNX6-8; Sequence=VSP_010038, VSP_010043; Name=9; Synonyms=sDC-SIGN1A type IV; IsoId=Q9NNX6-9; Sequence=VSP_010039, VSP_010040; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=10; Synonyms=sDC-SIGN1B type I; IsoId=Q9NNX6-10; Sequence=VSP_010037, VSP_010041; Name=11; Synonyms=sDC-SIGN1B type II; IsoId=Q9NNX6-11; Sequence=VSP_010037, VSP_010041, VSP_010047; Name=12; Synonyms=sDC-SIGN1B type III; IsoId=Q9NNX6-12; Sequence=VSP_010037, VSP_010041, VSP_010048, VSP_010050; Predominantly expressed in dendritic cells and in DC-residing tissues. Also found in placental macrophages, endothelial cells of placental vascular channels, peripheral blood mononuclear cells, and THP-1 monocytes. The tandem repeat domain, also called neck domain, mediates oligomerization. Genetic variations in CD209 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. Genetic variations in CD209 may influence susceptibility or resistance to dengue virus infection, as well as disease progression and severity [MIM:614371]. A promoter polymorphism in the CD209 gene is associated with protection from dengue fever, but not dengue hemorrhagic fever. In vitro, is a receptor for HIV-1 and transmits HIV-1 either in trans without DC infection, or in cis following a DC infection to permissive T-cells to induce a robust infection. Bound HIV-1 remains infectious over a prolonged period of time and it is proposed that bound HIV-1 is not degraded but protected in non-lysosomal acidic organelles within the DCs close to the cell membrane thus contributing to the HIV-1 infectious potential during transport by DCs from the periphery to lymphoid organs. Contains 1 C-type lectin domain. Sequence=AAK91858.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Name=Wikipedia; Note=DC-SIGN entry; URL="http://en.wikipedia.org/wiki/DC-SIGN"; Name=Functional Glycomics Gateway - Glycan Binding; Note=DC-SIGN; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_00121"; virus receptor activity stimulatory C-type lectin receptor signaling pathway adaptive immune response immune system process protein binding mannose binding extracellular region cytoplasm plasma membrane endocytosis cell adhesion heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules leukocyte cell-cell adhesion external side of plasma membrane cell surface cell-cell recognition membrane integral component of membrane viral process modulation by virus of host morphology or physiology virion attachment to host cell viral genome replication antigen processing and presentation carbohydrate binding intracellular signal transduction positive regulation of T cell proliferation regulation of T cell proliferation peptide antigen binding host cell innate immune response viral entry into host cell virion binding metal ion binding peptide antigen transport intracellular transport of virus B cell adhesion  uc002mhx.1 uc002mhx.2 uc002mhx.3 
ENST00000204961.5 EFNB1 ENST00000204961.5 Homo sapiens ephrin B1 (EFNB1), mRNA. (from RefSeq NM_004429) D3DVU0 EFL3 EFNB1_HUMAN ENST00000204961.1 ENST00000204961.2 ENST00000204961.3 ENST00000204961.4 EPLG2 LERK2 NM_004429 P98172 uc004dxd.1 uc004dxd.2 uc004dxd.3 uc004dxd.4 uc004dxd.5 uc004dxd.6 The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC016649.1, U09303.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000204961.5/ ENSP00000204961.4 RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 23335590 ##RefSeq-Attributes-END## Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to the receptor tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). Interacts with GRIP1 and GRIP2. P04626:ERBB2; NbExp=11; IntAct=EBI-538287, EBI-641062; Membrane; Single-pass type I membrane protein. Heart, placenta, lung, liver, skeletal muscle, kidney, pancreas. By TNF. Inducible phosphorylation of tyrosine residues in the cytoplasmic domain (By similarity). Defects in EFNB1 are a cause of craniofrontonasal syndrome (CFNS) [MIM:304110]; also known as craniofrontonasal dysplasia (CFND). CFNS is an X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. Belongs to the ephrin family. Contains 1 ephrin RBD (ephrin receptor-binding) domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EFNB1"; neural crest cell migration protein binding nucleus cytoplasm plasma membrane integral component of plasma membrane cell adhesion cell-cell signaling multicellular organism development nervous system development axon guidance embryonic pattern specification membrane integral component of membrane cell differentiation T cell costimulation positive regulation of T cell proliferation membrane raft synapse ephrin receptor binding ephrin receptor signaling pathway extracellular exosome  uc004dxd.1 uc004dxd.2 uc004dxd.3 uc004dxd.4 uc004dxd.5 uc004dxd.6 
ENST00000205061.9 GLG1 ENST00000205061.9 Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. (from RefSeq NM_012201) B7Z8Y4 CFR1 D3DUJ7 ENST00000205061.1 ENST00000205061.2 ENST00000205061.3 ENST00000205061.4 ENST00000205061.5 ENST00000205061.6 ENST00000205061.7 ENST00000205061.8 ESL1 GSLG1_HUMAN MG160 NM_012201 Q13221 Q6P9D1 Q92896 uc002fcx.1 uc002fcx.2 uc002fcx.3 uc002fcx.4 Binds fibroblast growth factor and E-selectin (cell- adhesion lectin on endothelial cells mediating the binding of neutrophils). Golgi apparatus membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q92896-1; Sequence=Displayed; Name=2; IsoId=Q92896-2; Sequence=VSP_035998; Note=Phosphorylated on Ser-1201; Name=3; IsoId=Q92896-3; Sequence=VSP_043472, VSP_035998; Note=No experimental confirmation available; Widely expressed. Highest levels in pancreas, skeletal muscle, placenta, heart, testis and ovary. Also found in the kidney, liver, lung and brain. Expressed both in adult and fetal tissues. Fucosylation is essential for binding to E-selectin (By similarity). N-glycosylated. Contains sialic acid residues (By similarity). Contains 16 Cys-rich GLG1 repeats. Sequence=AAB02178.1; Type=Frameshift; Positions=27, 35; Golgi membrane receptor binding Golgi apparatus plasma membrane negative regulation of protein processing membrane integral component of membrane fibroblast growth factor binding negative regulation of transforming growth factor beta receptor signaling pathway extracellular matrix regulation of chondrocyte differentiation leukocyte migration bone morphogenesis extracellular exosome  uc002fcx.1 uc002fcx.2 uc002fcx.3 uc002fcx.4 
ENST00000205135.8 PLEKHG2 ENST00000205135.8 Contains 1 DH (DBL-homology) domain. (from UniProt H7BXC7) BC075858 ENST00000205135.1 ENST00000205135.2 ENST00000205135.3 ENST00000205135.4 ENST00000205135.5 ENST00000205135.6 ENST00000205135.7 H7BXC7 H7BXC7_HUMAN uc060ykt.1 Contains 1 DH (DBL-homology) domain. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. Rho guanyl-nucleotide exchange factor activity regulation of Rho protein signal transduction  uc060ykt.1 
ENST00000205143.4 DLL3 ENST00000205143.4 Homo sapiens delta like canonical Notch ligand 3 (DLL3), transcript variant 1, mRNA. (from RefSeq NM_016941) DLL3_HUMAN ENST00000205143.1 ENST00000205143.2 ENST00000205143.3 NM_016941 Q9NYJ7 uc002olx.1 uc002olx.2 uc002olx.3 This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity). Can bind and activate Notch-1 or another Notch receptor (By similarity). Membrane; Single-pass type I membrane protein (Probable). The DSL domain is required for binding to the Notch receptor. Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity). Defects in DLL3 are the cause of spondylocostal dysostosis type 1 (SCDO1) [MIM:277300]. An autosomal recessive condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Contains 1 DSL domain. Contains 6 EGF-like domains. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLL3"; skeletal system development somitogenesis Notch binding calcium ion binding plasma membrane Notch signaling pathway multicellular organism development compartment pattern specification tissue development membrane integral component of membrane cell differentiation negative regulation of Notch signaling pathway paraxial mesoderm development negative regulation of neurogenesis  uc002olx.1 uc002olx.2 uc002olx.3 
ENST00000205194.5 NAT14 ENST00000205194.5 Homo sapiens N-acetyltransferase 14 (putative) (NAT14), mRNA. (from RefSeq NM_020378) ENST00000205194.1 ENST00000205194.2 ENST00000205194.3 ENST00000205194.4 KLP1 NAT14_HUMAN NM_020378 Q8TDY7 Q8WUY8 Q9NS72 uc002qle.1 uc002qle.2 uc002qle.3 uc002qle.4 Probable acetyltransferase that binds the 5'-GGACTACAG- 3' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro. Membrane; Single-pass membrane protein (Potential). Expressed in K-562 and HeLa cell lines and in brain. Belongs to the camello family. Contains 1 N-acetyltransferase domain. DNA binding nucleus DNA-templated transcription, initiation N-acetyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring acyl groups positive regulation of transcription, DNA-templated  uc002qle.1 uc002qle.2 uc002qle.3 uc002qle.4 
ENST00000205214.11 AASDH ENST00000205214.11 Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), transcript variant 1, mRNA. (from RefSeq NM_181806) A5D8V3 A5PL22 ACSF4 ACSF4_HUMAN ENST00000205214.1 ENST00000205214.10 ENST00000205214.2 ENST00000205214.3 ENST00000205214.4 ENST00000205214.5 ENST00000205214.6 ENST00000205214.7 ENST00000205214.8 ENST00000205214.9 HSPC318 NM_181806 Q4L235 Q63HK2 Q63HR7 Q6IPP8 Q6TFZ6 Q7Z5Y3 Q96BW4 Q9P064 U26 uc003hbn.1 uc003hbn.2 uc003hbn.3 uc003hbn.4 uc003hbn.5 uc003hbn.6 This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]. ##Evidence-Data-START## Transcript exon combination :: AY422212.1, AK316296.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000205214.11/ ENSP00000205214.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q4L235-1; Sequence=Displayed; Name=2; IsoId=Q4L235-2; Sequence=VSP_030707; Note=No experimental confirmation available; Name=3; IsoId=Q4L235-3; Sequence=VSP_030711, VSP_030712; Name=4; IsoId=Q4L235-4; Sequence=VSP_030710, VSP_030713; Note=No experimental confirmation available; Ubiquitously expressed in adult tissues. Belongs to the ATP-dependent AMP-binding enzyme family. Contains 1 acyl carrier domain. Sequence=CAH56482.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding catalytic activity ATP binding lipid metabolic process fatty acid metabolic process ligase activity acid-thiol ligase activity beta-alanine metabolic process amino acid activation for nonribosomal peptide biosynthetic process  uc003hbn.1 uc003hbn.2 uc003hbn.3 uc003hbn.4 uc003hbn.5 uc003hbn.6 
ENST00000205386.8 LAMB4 ENST00000205386.8 Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. (from UniProt A4D0S4) A4D0S4 A5PKU6 AF028816 B2RTT3 B5MEB9 ENST00000205386.1 ENST00000205386.2 ENST00000205386.3 ENST00000205386.4 ENST00000205386.5 ENST00000205386.6 ENST00000205386.7 LAMB4_HUMAN Q86TP7 Q86XN2 Q8NBX5 uc003vey.1 uc003vey.2 uc003vey.3 Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Secreted, extracellular space, extracellular matrix, basement membrane. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A4D0S4-1; Sequence=Displayed; Name=2; IsoId=A4D0S4-2; Sequence=VSP_029913, VSP_029914; Name=3; IsoId=A4D0S4-3; Sequence=VSP_029915, VSP_029916; The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI and IV are globular. Contains 13 laminin EGF-like domains. Contains 1 laminin IV type B domain. Contains 1 laminin N-terminal domain. extracellular matrix structural constituent extracellular region basement membrane cell adhesion animal organ morphogenesis tissue development cell migration substrate adhesion-dependent cell spreading laminin complex basement membrane assembly  uc003vey.1 uc003vey.2 uc003vey.3 
ENST00000205402.10 DLD ENST00000205402.10 Homo sapiens dihydrolipoamide dehydrogenase (DLD), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000108) B2R5X0 DLDH_HUMAN ENST00000205402.1 ENST00000205402.2 ENST00000205402.3 ENST00000205402.4 ENST00000205402.5 ENST00000205402.6 ENST00000205402.7 ENST00000205402.8 ENST00000205402.9 GCSL LAD NM_000108 P09622 PHE3 Q14131 Q14167 Q59EV8 Q8WTS4 uc003vet.1 uc003vet.2 uc003vet.3 uc003vet.4 uc003vet.5 uc003vet.6 This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction. Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH. Binds 1 FAD per subunit (By similarity). Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds. Mitochondrion matrix. Tyrosine phosphorylated (By similarity). Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis. Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized by mental and physical retardation, feeding problems and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine, resulting from a block in oxidative decarboxylation. The active site is a redox-active disulfide bond. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DLD"; acrosomal vesicle dihydrolipoyl dehydrogenase activity protein binding nucleus nucleoplasm mitochondrion mitochondrial matrix cilium acetyl-CoA biosynthetic process from pyruvate pyruvate metabolic process tricarboxylic acid cycle 2-oxoglutarate metabolic process mitochondrial electron transport, NADH to ubiquinone proteolysis lysine catabolic process gastrulation aging electron carrier activity branched-chain amino acid catabolic process lipoate metabolic process oxidoreductase activity oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor cytoplasmic vesicle motile cilium regulation of membrane potential cell projection acrosomal matrix lipoamide binding oxoglutarate dehydrogenase complex pyruvate dehydrogenase complex cell redox homeostasis sperm capacitation flavin adenine dinucleotide binding dihydrolipoamide metabolic process NAD binding oxidation-reduction process mitochondrial acetyl-CoA biosynthetic process from pyruvate pyruvate dehydrogenase (NAD+) activity  uc003vet.1 uc003vet.2 uc003vet.3 uc003vet.4 uc003vet.5 uc003vet.6 
ENST00000205557.12 ABCC6 ENST00000205557.12 Homo sapiens ATP binding cassette subfamily C member 6 (ABCC6), transcript variant 3, mRNA. (from RefSeq NM_001351800) ARA ENST00000205557.1 ENST00000205557.10 ENST00000205557.11 ENST00000205557.2 ENST00000205557.3 ENST00000205557.4 ENST00000205557.5 ENST00000205557.6 ENST00000205557.7 ENST00000205557.8 ENST00000205557.9 MRP6 MRP6_HUMAN NM_001351800 O95255 P78420 Q9UMZ7 uc002den.1 uc002den.2 uc002den.3 uc002den.4 uc002den.5 uc002den.6 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.96299.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS). Membrane; Multi-pass membrane protein (By similarity). Note=Localized to the basolateral membrane. Expressed in kidney and liver. Very low expression in other tissues. Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE) [MIM:264800]. PXE is a disorder characterized by calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration. PXE is caused in the overwhelming majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomal recessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype (autosomal dominant PXE). Defects in ABCC6 are the cause of arterial calcification of infancy, generalized, type 2 (GACI2) [MIM:614473]. GACI2 is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains. Sequence=AAC15785.1; Type=Erroneous gene model prediction; Name=Mutations of the ABCC6 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/abcc6mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCC6"; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95255"; nucleotide binding transporter activity ATP binding nucleus endoplasmic reticulum endoplasmic reticulum membrane plasma membrane visual perception membrane integral component of membrane basolateral plasma membrane apical plasma membrane lateral plasma membrane ATPase activity transmembrane transporter activity response to drug ATPase activity, coupled to transmembrane movement of substances response to stimulus transmembrane transport  uc002den.1 uc002den.2 uc002den.3 uc002den.4 uc002den.5 uc002den.6 
ENST00000205636.4 CMTM6 ENST00000205636.4 Homo sapiens CKLF like MARVEL transmembrane domain containing 6 (CMTM6), mRNA. (from RefSeq NM_017801) CKLF6_HUMAN CKLFSF6 ENST00000205636.1 ENST00000205636.2 ENST00000205636.3 NM_017801 Q6IAC4 Q9NX76 uc003cfa.1 uc003cfa.2 uc003cfa.3 This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF479261.1, SRR1660809.9855.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000205636.4/ ENSP00000205636.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein. Expressed in the leukocytes, placenta and testis. Belongs to the chemokine-like factor family. Contains 1 MARVEL domain. protein binding endosome plasma membrane protein transport membrane integral component of membrane regulation of protein stability early endosome membrane endocytic recycling azurophil granule membrane specific granule membrane neutrophil degranulation recycling endosome membrane  uc003cfa.1 uc003cfa.2 uc003cfa.3 
ENST00000205948.11 APOH ENST00000205948.11 Homo sapiens apolipoprotein H (APOH), mRNA. (from RefSeq NM_000042) APOH_HUMAN B2G1 B2R9M3 ENST00000205948.1 ENST00000205948.10 ENST00000205948.2 ENST00000205948.3 ENST00000205948.4 ENST00000205948.5 ENST00000205948.6 ENST00000205948.7 ENST00000205948.8 ENST00000205948.9 NM_000042 P02749 Q9UCN7 uc002jfn.1 uc002jfn.2 uc002jfn.3 uc002jfn.4 uc002jfn.5 uc002jfn.6 Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M62839.1, SRR5189664.103267.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2162895 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000205948.11/ ENSP00000205948.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells. Secreted. Expressed by the liver and secreted in plasma. N- and O-glycosylated. PubMed:6587378 also reports glycosylation on 'Asn-188' for their allele. Contains 4 Sushi (CCP/SCR) domains. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/apoh/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOH"; negative regulation of endothelial cell proliferation platelet degranulation protein binding phospholipid binding extracellular region extracellular space triglyceride metabolic process blood coagulation, intrinsic pathway heparin binding lipid binding cell surface negative regulation of endothelial cell migration negative regulation of angiogenesis regulation of blood coagulation positive regulation of blood coagulation negative regulation of blood coagulation platelet dense granule lumen plasminogen activation negative regulation of myeloid cell apoptotic process triglyceride transport very-low-density lipoprotein particle high-density lipoprotein particle negative regulation of smooth muscle cell apoptotic process chylomicron identical protein binding positive regulation of lipoprotein lipase activity regulation of fibrinolysis negative regulation of fibrinolysis lipoprotein lipase activator activity extracellular exosome  uc002jfn.1 uc002jfn.2 uc002jfn.3 uc002jfn.4 uc002jfn.5 uc002jfn.6 
ENST00000206020.8 SPAG7 ENST00000206020.8 Homo sapiens sperm associated antigen 7 (SPAG7), mRNA. (from RefSeq NM_004890) ENST00000206020.1 ENST00000206020.2 ENST00000206020.3 ENST00000206020.4 ENST00000206020.5 ENST00000206020.6 ENST00000206020.7 NM_004890 O75391 Q96EU5 SPAG7_HUMAN uc002gae.1 uc002gae.2 uc002gae.3 uc002gae.4 uc002gae.5 Nucleus (Potential). Detected in fetal brain. Contains 1 R3H domain. Sequence=AAC39888.1; Type=Frameshift; Positions=227; nucleic acid binding nucleus  uc002gae.1 uc002gae.2 uc002gae.3 uc002gae.4 uc002gae.5 
ENST00000206249.8 ESR1 ENST00000206249.8 Homo sapiens estrogen receptor 1 (ESR1), transcript variant 12, mRNA. (from RefSeq NM_001385572) ENST00000206249.1 ENST00000206249.2 ENST00000206249.3 ENST00000206249.4 ENST00000206249.5 ENST00000206249.6 ENST00000206249.7 ESR ESR1_HUMAN NM_001385572 NR3A1 P03372 Q13511 Q14276 Q5T5H7 Q6MZQ9 Q9NU51 Q9UDZ7 Q9UIS7 uc003qoo.1 uc003qoo.2 uc003qoo.3 uc003qoo.4 uc003qoo.5 uc003qoo.6 This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]. Nuclear hormone receptor. The steroid hormones and their receptors are involved in the regulation of eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Ligand-dependent nuclear transactivation involves either direct homodimer binding to a palindromic estrogen response element (ERE) sequence or association with other DNA- binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2, Sp1 and Sp3, to mediate ERE-independent signaling. Ligand binding induces a conformational change allowing subsequent or combinatorial association with multiprotein coactivator complexes through LXXLL motifs of their respective components. Mutual transrepression occurs between the estrogen receptor (ER) and NF- kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA- binding activity and inhibits NF-kappa-B-mediated transcription from the IL6 promoter and displace RELA/p65 and associated coregulators from the promoter. Recruited to the NF-kappa-B response element of the CCL2 and IL8 promoters and can displace CREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50 on ERE sequences. Can also act synergistically with NF-kappa-B to activate transcription involving respective recruitment adjacent response elements; the function involves CREBBP. Can activate the transcriptional activity of TFF1. Also mediates membrane-initiated estrogen signaling involving various kinase cascades. Isoform 3 is involved in activation of NOS3 and endothelial nitric oxide production. Isoforms lacking one or several functional domains are thought to modulate transcriptional activity by competitive ligand or DNA binding and/or heterodimerization with the full length receptor. Isoform 3 can bind to ERE and inhibit isoform 1. Binds DNA as a homodimer. Can form a heterodimer with ESR2. Isoform 3 can probably homodimerize or heterodimerize with isoform 1 and ESR2. Interacts with FOXC2, MAP1S, SLC30A9, UBE1C and NCOA3 coactivator (By similarity). Interacts with EP300; the interaction is estrogen-dependent and enhanced by CITED1. Interacts with CITED1; the interaction is estrogen-dependent. Interacts with NCOA5 and NCOA6 coactivators. Interacts with NCOA7; the interaction is a ligand-inducible. Interacts with PHB2, PELP1 and UBE1C. Interacts with AKAP13. Interacts with CUEDC2. Interacts with KDM5A. Interacts with SMARD1. Interacts with HEXIM1. Interacts with PBXIP1. Interaction with MUC1 is stimulated by 7 beta-estradiol (E2) and enhances ERS1-mediated transcription. Interacts with DNTTIP2, FAM120B and UIMC1. Interacts with isoform 4 of TXNRD1. Interacts with MLL2. Interacts with ATAD2 and this interaction is enhanced by estradiol. Interacts with KIF18A and LDB1. Interacts with RLIM (via C-terminus). Interacts with MACROD1. Interacts with SH2D4A and PLCG. Interaction with SH2D4A blocks binding to PLCG and inhibits estrogen-induced cell proliferation. Interacts with DYNLL1. Interacts with CCDC62 in the presence of estradiol/E2; this interaction seems to enhance the transcription of target genes. Interacts with NR2C1; the interaction prevents homodimerization of ESR1 and suppresses its transcriptional activity and cell growth. Interacts with DYX1C1. Interacts with PRMT2. Interacts with PI3KR1 or PI3KR2, SRC and PTK2/FAK1. Interacts with RBFOX2. Interacts with STK3/MST2 only in the presence of SAV1 and vice-versa. Binds to CSNK1D. Interacts with NCOA2; NCOA2 can interact with ESE1 AF-1 and AF-2 domains simultaneously and mediate their transcriptional synergy. Interacts with DDX5. Interacts with NCOA1; the interaction seems to require a self-association of N-terminal and C-terminal regions. Interacts with ZNF366, DDX17, NFKB1, RELA, SP1 and SP3. Interacts with NRIP1 (By similarity). Self; NbExp=8; IntAct=EBI-78473, EBI-78473; Q12802:AKAP13; NbExp=3; IntAct=EBI-78473, EBI-1373806; Q9Y294:ASF1A; NbExp=2; IntAct=EBI-78473, EBI-749553; Q8IXJ9:ASXL1; NbExp=2; IntAct=EBI-78473, EBI-1646500; P59598:Asxl1 (xeno); NbExp=2; IntAct=EBI-78473, EBI-5743705; P62952:BLCAP; NbExp=2; IntAct=EBI-78473, EBI-3895726; P38398:BRCA1; NbExp=12; IntAct=EBI-78473, EBI-349905; P20290-2:BTF3; NbExp=5; IntAct=EBI-78473, EBI-1054703; Q99966:CITED1; NbExp=3; IntAct=EBI-78473, EBI-2624951; Q9H467:CUEDC2; NbExp=2; IntAct=EBI-78473, EBI-1248228; Q92841:DDX17; NbExp=7; IntAct=EBI-78473, EBI-746012; P17844:DDX5; NbExp=8; IntAct=EBI-78473, EBI-351962; O00429:DNM1L; NbExp=2; IntAct=EBI-78473, EBI-724571; P00533:EGFR; NbExp=4; IntAct=EBI-4309277, EBI-297353; Q12778:FOXO1; NbExp=2; IntAct=EBI-78473, EBI-1108782; O00165:HAX1; NbExp=2; IntAct=EBI-78473, EBI-357001; P05627:Jun (xeno); NbExp=6; IntAct=EBI-78473, EBI-764369; Q9BQ69:MACROD1; NbExp=4; IntAct=EBI-78473, EBI-5324932; Q00987:MDM2; NbExp=2; IntAct=EBI-78473, EBI-389668; O14686:MLL2; NbExp=3; IntAct=EBI-78473, EBI-996065; P60660:MYL6; NbExp=3; IntAct=EBI-78473, EBI-300817; Q15788:NCOA1; NbExp=5; IntAct=EBI-78473, EBI-455189; Q15596:NCOA2; NbExp=8; IntAct=EBI-78473, EBI-81236; Q9Y6Q9:NCOA3; NbExp=2; IntAct=EBI-78473, EBI-81196; Q9JLI4:Ncoa6 (xeno); NbExp=2; IntAct=EBI-78473, EBI-286271; Q9UN36:NDRG2; NbExp=2; IntAct=EBI-78473, EBI-3895741; P19838:NFKB1; NbExp=3; IntAct=EBI-78473, EBI-697771; Q96AQ6:PBXIP1; NbExp=9; IntAct=EBI-78473, EBI-740845; Q99623:PHB2; NbExp=4; IntAct=EBI-78473, EBI-358348; P53041:PPP5C; NbExp=4; IntAct=EBI-78473, EBI-716663; P55345:PRMT2; NbExp=5; IntAct=EBI-78473, EBI-78458; P60763:RAC3; NbExp=5; IntAct=EBI-78473, EBI-767084; O43251:RBFOX2; NbExp=4; IntAct=EBI-78473, EBI-746056; Q04206:RELA; NbExp=7; IntAct=EBI-78473, EBI-73886; Q14151:SAFB2; NbExp=2; IntAct=EBI-78473, EBI-352869; Q96HI0:SENP5; NbExp=2; IntAct=EBI-78473, EBI-3895753; P29353:SHC1; NbExp=2; IntAct=EBI-4309277, EBI-78835; P08047:SP1; NbExp=2; IntAct=EBI-78473, EBI-298336; Q02447:SP3; NbExp=2; IntAct=EBI-78473, EBI-348158; P12931:SRC; NbExp=2; IntAct=EBI-4309277, EBI-621482; Q8N895:ZNF366; NbExp=6; IntAct=EBI-78473, EBI-2813661; Isoform 1: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=A minor fraction is associated with the inner membrane. Isoform 3: Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Single-pass type I membrane protein. Note=Associated with the inner membrane via palmitoylation (Probable). At least a subset exists as a transmembrane protein with a N-terminal extracellular domain. Nucleus. Golgi apparatus. Cell membrane. Note=Colocalizes with ZDHHC7 and ZDHHC21 in the Golgi apparatus where most probably palmitoylation occurs. Associated with the plasma membrane when palmitoylated. Event=Alternative promoter usage, Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist; Name=1; Synonyms=Long, hER-alpha66, ER66; IsoId=P03372-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P03372-2; Sequence=VSP_003680; Name=3; Synonyms=hER-alpha46, ER46; IsoId=P03372-3; Sequence=VSP_042460; Note=Produced by alternative promoter usage; Name=4; Synonyms=hER-alpha36, ER36; IsoId=P03372-4; Sequence=VSP_042460, VSP_042461; Note=Produced by alternative splicing of isoform 3; Widely expressed. Isoform 3 is not expressed in the pituitary gland. Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. The modulating domain, also known as A/B or AF-1 domain has a ligand- independent transactivation function. The C-terminus contains a ligand-dependent transactivation domain, also known as E/F or AF-2 domain which overlaps with the ligand binding domain. AF-1 and AF- 2 activate transcription independently and synergistically and act in a promoter- and cell-specific manner. AF-1 seems to provide the major transactivation function in differentiated cells. Phosphorylated by cyclin A/CDK2 and CK1. Phosphorylation probably enhances transcriptional activity. Self-association induces phosphorylation. Glycosylated; contains N-acetylglucosamine, probably O- linked. Ubiquitinated. Deubiquitinated by OTUB1. Dimethylated by PRMT1 at Arg-260. The methylation may favor cytoplasmic localization. Palmitoylated (isoform 3). Not biotinylated (isoform 3). Palmitoylated by ZDHHC7 and ZDHHC21. Palmitoylation is required for plasma membrane targeting and for rapid intracellular signaling via ERK and AKT kinases and cAMP generation, but not for signaling mediated by the nuclear hormone receptor. Genetic variations in ESR1 are correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disrutption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture. Selective estrogen receptor modulators (SERMs), such as tamoxifen, raloxifene, toremifene, lasofoxifene, clomifene, femarelle and ormeloxifene, have tissue selective agonistic and antagonistic effects on the estrogen receptor (ER). They interfere with the ER association with coactivators or corepressors, mainly involving the AF-2 domain. Belongs to the nuclear hormone receptor family. NR3 subfamily. Contains 1 nuclear receptor DNA-binding domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/esr1/"; Name=Wikipedia; Note=Estrogen receptor entry; URL="http://en.wikipedia.org/wiki/Estrogen_receptor"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding TFIIB-class transcription factor binding transcription coactivator binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding antral ovarian follicle growth epithelial cell development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding steroid binding protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol plasma membrane chromatin remodeling transcription, DNA-templated regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter signal transduction phospholipase C-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration beta-catenin binding transcription factor binding androgen metabolic process zinc ion binding lipid binding male gonad development negative regulation of gene expression positive regulation of phospholipase C activity membrane integral component of membrane protein deubiquitination TBP-class protein binding enzyme binding protein kinase binding regulation of Wnt signaling pathway nitric-oxide synthase regulator activity estrogen receptor activity estrogen receptor binding intracellular steroid hormone receptor signaling pathway intracellular estrogen receptor signaling pathway response to estradiol macromolecular complex regulation of intracellular estrogen receptor signaling pathway estrogen response element binding regulation of toll-like receptor signaling pathway transcriptionally active chromatin identical protein binding regulation of apoptotic process negative regulation of I-kappaB kinase/NF-kappaB signaling steroid hormone mediated signaling pathway negative regulation of sequence-specific DNA binding transcription factor activity sequence-specific DNA binding response to estrogen positive regulation of nitric oxide biosynthetic process positive regulation of transcription, DNA-templated positive regulation of RNA polymerase II transcriptional preinitiation complex assembly positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of fibroblast proliferation stem cell differentiation regulation of inflammatory response positive regulation of nitric-oxide synthase activity positive regulation of sequence-specific DNA binding transcription factor activity ATPase binding positive regulation of protein kinase B signaling uterus development vagina development prostate epithelial cord elongation prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis regulation of branching involved in prostate gland morphogenesis mammary gland branching involved in pregnancy mammary gland alveolus development epithelial cell proliferation involved in mammary gland duct elongation protein localization to chromatin cellular response to estrogen stimulus cellular response to estradiol stimulus transcriptional preinitiation complex negative regulation of production of miRNAs involved in gene silencing by miRNA  uc003qoo.1 uc003qoo.2 uc003qoo.3 uc003qoo.4 uc003qoo.5 uc003qoo.6 
ENST00000206262.2 RGS17 ENST00000206262.2 Homo sapiens regulator of G protein signaling 17 (RGS17), mRNA. (from RefSeq NM_012419) ENST00000206262.1 NM_012419 Q5TF49 Q8TD61 Q9UGC6 Q9UJS8 RGS17_HUMAN uc003qpm.1 uc003qpm.2 uc003qpm.3 uc003qpm.4 uc003qpm.5 This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC013117.1, SRR3476690.1148404.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000206262.2/ ENSP00000206262.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)-i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G- protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins (By similarity). Membrane; Lipid-anchor. Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm/cell membrane and the nucleus. Anchored to the membrane through palmitoylation (By similarity). Predominantly expressed in the cerebellum. Also expressed in the cortex and medulla. Weakly expressed in a number of peripheral tissues notably spleen, lung and leukocytes. Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity). N- and O-glycosylated in synapsomal membranes (By similarity). Serine phosphorylated in synapsomal membranes (By similarity). Sumoylated with SUMO1 and SUM02 in synaptosomes. The sumoylated forms act as a scaffold for sequestering mu-opioid receptor-activated G(alpha) subunits (By similarity). Contains 1 RGS domain. response to amphetamine GTPase activity GTPase activator activity protein binding nucleus cytoplasm plasma membrane G-protein coupled receptor signaling pathway negative regulation of signal transduction membrane cell junction neuron projection positive regulation of GTPase activity synapse  uc003qpm.1 uc003qpm.2 uc003qpm.3 uc003qpm.4 uc003qpm.5 
ENST00000206380.8 TMEM101 ENST00000206380.8 Homo sapiens transmembrane protein 101 (TMEM101), transcript variant 1, mRNA. (from RefSeq NM_032376) B2R9N6 ENST00000206380.1 ENST00000206380.2 ENST00000206380.3 ENST00000206380.4 ENST00000206380.5 ENST00000206380.6 ENST00000206380.7 NM_032376 Q96IK0 TM101_HUMAN uc060fvt.1 uc060fvt.2 May activate NF-kappa-B signaling pathways. Membrane; Multi-pass membrane protein (Potential). cellular_component membrane integral component of membrane positive regulation of I-kappaB kinase/NF-kappaB signaling  uc060fvt.1 uc060fvt.2 
ENST00000206423.8 CCDC80 ENST00000206423.8 Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. (from RefSeq NM_199512) CCD80_HUMAN D3DN67 DRO1 ENST00000206423.1 ENST00000206423.2 ENST00000206423.3 ENST00000206423.4 ENST00000206423.5 ENST00000206423.6 ENST00000206423.7 HBE245 NM_199512 Q5PR20 Q6GPG9 Q76M96 Q8IVT6 Q8NBV1 Q8NHY8 URB uc032rxo.1 uc032rxo.2 uc032rxo.3 Promotes cell adhesion and matrix assembly (By similarity). Binds to various extracellular matrix proteins (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q76M96-1; Sequence=Displayed; Name=2; IsoId=Q76M96-2; Sequence=VSP_024136; Name=3; IsoId=Q76M96-3; Sequence=VSP_024135; Expressed in dermal papilla and dermal fibroblasts (at protein level). Expressed in heart, thymus, placenta, pancreas, colon, epithelium, spleen and osteoblasts. Down-regulated in cancer and after osteoblastic differentiation. Up-regulated by dihydrotestosterone (DHT). Phosphorylated. Belongs to the CCDC80 family. fibronectin binding glycosaminoglycan binding extracellular region basement membrane interstitial matrix heparin binding response to bacterium positive regulation of cell-substrate adhesion extracellular matrix organization extracellular matrix  uc032rxo.1 uc032rxo.2 uc032rxo.3 
ENST00000206446.4 CMA1 ENST00000206446.4 Homo sapiens chymase 1 (CMA1), transcript variant 2, mRNA. (from RefSeq NM_001308083) B5BUM8 CMA1_HUMAN CYH CYM ENST00000206446.1 ENST00000206446.2 ENST00000206446.3 NM_001308083 P23946 Q16018 Q3SY36 Q9UDH5 uc010alx.1 This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]. Major secreted protease of mast cells with suspected roles in vasoactive peptide generation, extracellular matrix degradation, and regulation of gland secretion. Preferential cleavage: Phe-|-Xaa > Tyr-|-Xaa > Trp-|-Xaa > Leu-|-Xaa. Secreted. Cytoplasmic granule. Note=Mast cell granules. Mast cells in lung, heart, skin and placenta. Expressed in both normal skin and in urticaria pigmentosa lesions. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. angiotensin maturation serine-type endopeptidase activity extracellular region extracellular space cytoplasm proteolysis peptide metabolic process peptidase activity serine-type peptidase activity hydrolase activity extracellular matrix disassembly secretory granule midbrain development basement membrane disassembly peptide binding positive regulation of angiogenesis interleukin-1 beta biosynthetic process regulation of inflammatory response cellular response to glucose stimulus  uc010alx.1 
ENST00000206451.11 PSME1 ENST00000206451.11 Homo sapiens proteasome activator subunit 1 (PSME1), transcript variant 1, mRNA. (from RefSeq NM_006263) ENST00000206451.1 ENST00000206451.10 ENST00000206451.2 ENST00000206451.3 ENST00000206451.4 ENST00000206451.5 ENST00000206451.6 ENST00000206451.7 ENST00000206451.8 ENST00000206451.9 IFI5111 NM_006263 PSME1_HUMAN Q06323 Q6IBM2 Q9UEF4 uc001wmg.1 uc001wmg.2 uc001wmg.3 uc001wmg.4 uc001wmg.5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. Heterodimer of PSME1 and PSME2, which forms a hexameric ring. PSME1 can form homoheptamers. By IFNG/IFN-gamma. Belongs to the PA28 family. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding nucleoplasm cytoplasm cytosol regulation of cellular amino acid metabolic process proteasome activator complex positive regulation of endopeptidase activity negative regulation of G2/M transition of mitotic cell cycle protein deubiquitination antigen processing and presentation of exogenous antigen anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway endopeptidase activator activity regulation of proteasomal protein catabolic process regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation regulation of G1/S transition of mitotic cell cycle  uc001wmg.1 uc001wmg.2 uc001wmg.3 uc001wmg.4 uc001wmg.5 
ENST00000206474.11 HAUS4 ENST00000206474.11 Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. (from UniProt Q9H6D7) B7WP17 BC001916 C14orf94 D3DS34 ENST00000206474.1 ENST00000206474.10 ENST00000206474.2 ENST00000206474.3 ENST00000206474.4 ENST00000206474.5 ENST00000206474.6 ENST00000206474.7 ENST00000206474.8 ENST00000206474.9 HAUS4_HUMAN Q86T15 Q86T16 Q86U43 Q9H6D7 Q9NX59 uc001wht.1 uc001wht.2 uc001wht.3 uc001wht.4 Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H6D7-1; Sequence=Displayed; Name=2; IsoId=Q9H6D7-2; Sequence=VSP_007853; Note=No experimental confirmation available; Name=3; IsoId=Q9H6D7-3; Sequence=VSP_007851; Note=No experimental confirmation available; Name=4; IsoId=Q9H6D7-4; Sequence=VSP_007852; Note=No experimental confirmation available; Belongs to the HAUS4 family. Sequence=CAD62584.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; G2/M transition of mitotic cell cycle molecular_function protein binding cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule cell cycle centrosome cycle regulation of G2/M transition of mitotic cell cycle microtubule minus-end binding spindle assembly cell division HAUS complex ciliary basal body docking  uc001wht.1 uc001wht.2 uc001wht.3 uc001wht.4 
ENST00000206513.6 CEBPE ENST00000206513.6 Homo sapiens CCAAT enhancer binding protein epsilon (CEBPE), mRNA. (from RefSeq NM_001805) CEBPE_HUMAN ENST00000206513.1 ENST00000206513.2 ENST00000206513.3 ENST00000206513.4 ENST00000206513.5 NM_001805 Q15744 Q15745 Q8IYI2 Q99803 uc001wiv.1 uc001wiv.2 uc001wiv.3 uc001wiv.4 The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035797.1, U48866.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers. Binds DNA as a dimer and can form stable heterodimers with C/EBP delta. Nucleus. Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines. Phosphorylated. Belongs to the bZIP family. C/EBP subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=AAC51130.1; Type=Frameshift; Positions=4; Name=CEBPEbase; Note=CEBPE mutation db; URL="http://bioinf.uta.fi/CEBPEbase/"; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated phagocytosis defense response positive regulation of gene expression myeloid cell differentiation macrophage differentiation granulocyte differentiation cytokine biosynthetic process defense response to bacterium protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity cellular response to lipopolysaccharide  uc001wiv.1 uc001wiv.2 uc001wiv.3 uc001wiv.4 
ENST00000206542.9 OSGEP ENST00000206542.9 Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA. (from RefSeq NM_017807) ENST00000206542.1 ENST00000206542.2 ENST00000206542.3 ENST00000206542.4 ENST00000206542.5 ENST00000206542.6 ENST00000206542.7 ENST00000206542.8 GCPL1 NM_017807 OSGEP_HUMAN Q6IAC3 Q9NPF4 uc001vxf.1 uc001vxf.2 uc001vxf.3 uc001vxf.4 uc001vxf.5 Required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (By similarity). Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas. Belongs to the KAE1 / YgjD family. EKC/KEOPS complex tRNA threonylcarbamoyladenosine modification protein binding nucleus nucleoplasm cytoplasm plasma membrane tRNA processing nuclear speck transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups metal ion binding N(6)-L-threonylcarbamoyladenine synthase  uc001vxf.1 uc001vxf.2 uc001vxf.3 uc001vxf.4 uc001vxf.5 
ENST00000206544.8 SLC22A17 ENST00000206544.8 solute carrier family 22 member 17 (from HGNC SLC22A17) BX161416 ENST00000206544.1 ENST00000206544.2 ENST00000206544.3 ENST00000206544.4 ENST00000206544.5 ENST00000206544.6 ENST00000206544.7 uc001wjl.1 uc001wjl.2 uc001wjl.3 uc001wjl.4 uc001wjl.5 uc001wjl.6  uc001wjl.1 uc001wjl.2 uc001wjl.3 uc001wjl.4 uc001wjl.5 uc001wjl.6 
ENST00000206595.11 G2E3 ENST00000206595.11 Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), transcript variant 1, mRNA. (from RefSeq NM_017769) ENST00000206595.1 ENST00000206595.10 ENST00000206595.2 ENST00000206595.3 ENST00000206595.4 ENST00000206595.5 ENST00000206595.6 ENST00000206595.7 ENST00000206595.8 ENST00000206595.9 G2E3_HUMAN KIAA1333 NM_017769 Q7L622 Q9BVR2 Q9H9E9 Q9NXC0 Q9P2L3 uc001wqk.1 uc001wqk.2 uc001wqk.3 uc001wqk.4 E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death. Protein modification; protein ubiquitination. Nucleus, nucleolus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. In the nucleus, delocalizes from the nucleolus to the nucleoplasm in response to DNA damage. Predominantly expressed in brain, liver, kidney, testes and ovary. Up-regulated approximately 4-fold in G2 when compared to S phase. Down-regulated approximately 3-fold by gamma- irradiation. Ubiquitin ligase activity is mediated by two distinct domains, PHD-type zinc fingers 2 and 3. The use of these distinct domains may allow ubiquitination of different targets by each domain. The HECT domain is catalytically inactive and does not contribute to this activity. Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. Contains 3 PHD-type zinc fingers. Sequence=BAA92571.1; Type=Erroneous initiation; Sequence=BAB14280.1; Type=Erroneous initiation; ubiquitin-protein transferase activity protein binding nucleus nucleolus cytoplasm cytosol apoptotic process multicellular organism development protein ubiquitination transferase activity intracellular membrane-bounded organelle metal ion binding  uc001wqk.1 uc001wqk.2 uc001wqk.3 uc001wqk.4 
ENST00000206765.11 TGM1 ENST00000206765.11 Homo sapiens transglutaminase 1 (TGM1), mRNA. (from RefSeq NM_000359) ENST00000206765.1 ENST00000206765.10 ENST00000206765.2 ENST00000206765.3 ENST00000206765.4 ENST00000206765.5 ENST00000206765.6 ENST00000206765.7 ENST00000206765.8 ENST00000206765.9 KTG NM_000359 P22735 Q197M4 TGM1_HUMAN uc001wod.1 uc001wod.2 uc001wod.3 uc001wod.4 The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC034699.1, AK315819.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000206765.11/ ENSP00000206765.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross- linking epidermal proteins during formation of the stratum corneum. Protein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3). Binds 1 calcium ion per subunit. Membrane; Lipid-anchor. The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form. Defects in TGM1 are the cause of ichthyosis lamellar type 1 (LI1) [MIM:242300]. LI is a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny, translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Defects in TGM1 are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]. NCIE is a non- bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. Defects in TGM1 are the cause of ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1) [MIM:242300]. A disorder of keratinization with abnormal differentiation and desquamation of the epidermis resulting in two major clinical entities. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Belongs to the transglutaminase superfamily. Transglutaminase family. Sequence=AAA61166.1; Type=Frameshift; Positions=16; Sequence=M86360; Type=Frameshift; Positions=16, 421, 651; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGM1"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgm1/"; cornified envelope protein-glutamine gamma-glutamyltransferase activity protein binding cytosol plasma membrane cellular protein modification process positive regulation of keratinocyte proliferation membrane transferase activity transferase activity, transferring acyl groups peptide cross-linking keratinocyte differentiation intrinsic component of membrane keratinization cell envelope organization positive regulation of cell cycle metal ion binding extracellular exosome cornification  uc001wod.1 uc001wod.2 uc001wod.3 uc001wod.4 
ENST00000207157.7 TBX15 ENST00000207157.7 Homo sapiens T-box transcription factor 15 (TBX15), transcript variant 2, mRNA. (from RefSeq NM_152380) ENST00000207157.1 ENST00000207157.2 ENST00000207157.3 ENST00000207157.4 ENST00000207157.5 ENST00000207157.6 NM_152380 Q08E76 Q5JT54 Q5T9S7 Q96SF7 TBX14 TBX15_HUMAN uc001ehl.1 uc001ehl.2 This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]. Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes (By similarity). Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96SF7-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on similarity to orthologs; Name=2; IsoId=Q96SF7-2; Sequence=VSP_040036; Defects in TBX15 are the cause of Cousin syndrome (COUSS) [MIM:260660]; also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature. Cousin syndrome is defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. Contains 1 T-box DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis Tle3-Aes complex  uc001ehl.1 uc001ehl.2 
ENST00000207457.8 TEKT2 ENST00000207457.8 Homo sapiens tektin 2 (TEKT2), mRNA. (from RefSeq NM_014466) A6NIS6 ENST00000207457.1 ENST00000207457.2 ENST00000207457.3 ENST00000207457.4 ENST00000207457.5 ENST00000207457.6 ENST00000207457.7 NM_014466 O60638 Q9UIF3 TEKT2_HUMAN uc001bzr.1 uc001bzr.2 uc001bzr.3 uc001bzr.4 This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF054910.1, SRR5189667.198951.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000207457.8/ ENSP00000207457.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Structural component of ciliary and flagellar microtubules. Plays a key role in the assembly or attachment of the inner dynein arm to microtubules in sperm flagella and tracheal cilia. Forms filamentous polymers in the walls of ciliary and flagellar microtubules (By similarity). Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, flagellum axoneme. Note=In sperm, observed in a discontinuous punctate pattern in the flagellum and in the postacrosomal head region. Expressed at high levels in testis, trachea and fetal lung, and at lower levels in ovary, pituitary, adult lung, fetal brain and fetal kidney. Tyrosine phosphorylated (By similarity). Belongs to the tektin family. nucleus cytoplasm microtubule organizing center cytoskeleton microtubule cilium microtubule cytoskeleton cell projection organization flagellated sperm motility motile cilium inner dynein arm assembly cell projection cilium assembly cilium movement involved in cell motility  uc001bzr.1 uc001bzr.2 uc001bzr.3 uc001bzr.4 
ENST00000207549.9 UNC13D ENST00000207549.9 Homo sapiens unc-13 homolog D (UNC13D), mRNA. (from RefSeq NM_199242) B4DWG9 ENST00000207549.1 ENST00000207549.2 ENST00000207549.3 ENST00000207549.4 ENST00000207549.5 ENST00000207549.6 ENST00000207549.7 ENST00000207549.8 NM_199242 Q70J99 Q9H7K5 UN13D_HUMAN uc002jpp.1 uc002jpp.2 uc002jpp.3 uc002jpp.4 uc002jpp.5 uc002jpp.6 This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC067084.1, AJ578444.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in cytotoxic granule exocytosis in lymphocytes. Required for both granule maturation and granule docking and priming at the immunologic synapse. Regulates assembly of recycling and late endosomal structures, leading to the formation of an endosomal exocytic compartment that fuses with perforin-containing granules at the immunologic synapse and licences them for exocytosis. Regulates Ca(2+)-dependent secretory lysosome exocytosis in mast cells. Interacts with DOC2A (By similarity). Interacts with RAB27A. Cytoplasm. Membrane; Peripheral membrane protein. Late endosome. Recycling endosome. Lysosome. Note=Colocalizes with cytotoxic granules at the plasma membrane. Localizes to endosomal exocytic vesicles. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q70J99-1; Sequence=Displayed; Name=2; IsoId=Q70J99-2; Sequence=VSP_011385, VSP_011386, VSP_011387; Note=No experimental confirmation available; Name=3; IsoId=Q70J99-3; Sequence=VSP_037949; Note=No experimental confirmation available; Expressed at high levels in spleen, thymus and leukocytes. Also expressed in lung and placenta, and at very low levels in brain, heart, skeletal muscle and kidney. Expressed in cytotoxic T-lymphocytes (CTL) and mast cells. The MHD1 and MHD2 domains mediate localization on recycling endosomes and lysosome. Defects in UNC13D are the cause of familial hemophagocytic lymphohistiocytosis type 3 (FHL3) [MIM:608898]; also known as HPLH3. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T-lymphocytes in lymph nodes, spleen, and other organs is also found. Belongs to the unc-13 family. Contains 2 C2 domains. Contains 1 MHD1 (MUNC13 homology domain 1) domain. Contains 1 MHD2 (MUNC13 homology domain 2) domain. Sequence=BAB15764.1; Type=Erroneous initiation; Name=UNC13Dbase; Note=UNC13D mutation db; URL="http://bioinf.uta.fi/UNC13Dbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNC13D"; granuloma formation germinal center formation protein binding extracellular region cytoplasm lysosome endosome late endosome cytosol exocytosis phagocytosis membrane Rab GTPase binding Weibel-Palade body azurophil granule lumen intracellular membrane-bounded organelle regulation of mast cell degranulation neutrophil degranulation natural killer cell degranulation positive regulation of exocytosis defense response to virus recycling endosome exocytic vesicle positive regulation of substrate adhesion-dependent cell spreading positive regulation of regulated secretory pathway  uc002jpp.1 uc002jpp.2 uc002jpp.3 uc002jpp.4 uc002jpp.5 uc002jpp.6 
ENST00000207636.9 COMT ENST00000207636.9 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8WBW9) BC011935 ENST00000207636.1 ENST00000207636.2 ENST00000207636.3 ENST00000207636.4 ENST00000207636.5 ENST00000207636.6 ENST00000207636.7 ENST00000207636.8 F8WBW9 F8WBW9_HUMAN uc062bof.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. O-methyltransferase activity methylation  uc062bof.1 
ENST00000207870.8 XYLB ENST00000207870.8 Homo sapiens xylulokinase (XYLB), transcript variant 2, mRNA. (from RefSeq NM_005108) B2RAW4 B9EH64 ENST00000207870.1 ENST00000207870.2 ENST00000207870.3 ENST00000207870.4 ENST00000207870.5 ENST00000207870.6 ENST00000207870.7 NM_005108 O75191 XYLB_HUMAN uc003cic.1 uc003cic.2 uc003cic.3 uc003cic.4 The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other gene products in C.elegans (45%) and yeast (31-35%), which are thought to belong to a family of enzymes that include fucokinase, gluconokinase, glycerokinase and xylulokinase. These proteins play important roles in energy metabolism. [provided by RefSeq, Aug 2009]. ATP + D-xylulose = ADP + D-xylulose 5- phosphate. Belongs to the FGGY kinase family. Sequence=BAA31527.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; nucleotide binding xylulokinase activity ATP binding cytosol carbohydrate metabolic process xylulose metabolic process xylulose catabolic process generation of precursor metabolites and energy kinase activity phosphorylation transferase activity phosphotransferase activity, alcohol group as acceptor glucuronate catabolic process to xylulose 5-phosphate D-xylose metabolic process carbohydrate phosphorylation  uc003cic.1 uc003cic.2 uc003cic.3 uc003cic.4 
ENST00000209540.2 OR1I1 ENST00000209540.2 Odorant receptor (Potential). (from UniProt O60431) BC140930 ENST00000209540.1 O60431 OR1I1_HUMAN Q96R92 uc010xoe.1 uc010xoe.2 uc010xoe.3 Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR1I1"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc010xoe.1 uc010xoe.2 uc010xoe.3 
ENST00000209665.8 ADH7 ENST00000209665.8 Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism. (from UniProt P40394) A2RRB6 A8MVN9 ADH7_HUMAN B2R760 B4DWV6 ENST00000209665.1 ENST00000209665.2 ENST00000209665.3 ENST00000209665.4 ENST00000209665.5 ENST00000209665.6 ENST00000209665.7 P40394 Q13713 X76342 uc003huv.1 uc003huv.2 Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism. An alcohol + NAD(+) = an aldehyde or ketone + NADH. Binds 2 zinc ions per subunit. Homodimer. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P40394-1; Sequence=Displayed; Name=2; IsoId=P40394-2; Sequence=VSP_043093; Note=No experimental confirmation available; Preferentially expressed in stomach. There are 7 different ADH's isozymes in human: three belongs to class-I: alpha, beta, and gamma, one to class-II: pi, one to class-III: chi, one to class-IV: ADH7 and one to class- V: ADH6. Belongs to the zinc-containing alcohol dehydrogenase family. Class-IV subfamily. It is uncertain whether Met-1 or Met-13 is the initiator. Sequence=AAA19002.1; Type=Erroneous initiation; Sequence=AAC51351.1; Type=Erroneous initiation; Sequence=BAG35707.1; Type=Erroneous initiation; Sequence=CAA53960.1; Type=Erroneous initiation; Sequence=CAA53961.1; Type=Erroneous initiation; retinoid metabolic process alcohol dehydrogenase (NAD) activity alcohol dehydrogenase activity, zinc-dependent aldehyde oxidase activity retinol dehydrogenase activity cytoplasm cytosol plasma membrane ethanol catabolic process ethanol oxidation zinc ion binding response to bacterium fatty acid omega-oxidation oxidoreductase activity retinol binding ethanol binding retinol metabolic process retinoic acid metabolic process response to ethanol metal ion binding receptor antagonist activity omega-hydroxydecanoate dehydrogenase activity oxidation-reduction process negative regulation of receptor activity  uc003huv.1 uc003huv.2 
ENST00000209668.3 ADH1A ENST00000209668.3 Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. (from RefSeq NM_000667) A8K3E3 ADH1 ADH1A_HUMAN ENST00000209668.1 ENST00000209668.2 NM_000667 P07327 Q17R68 uc003hur.1 uc003hur.2 uc003hur.3 uc003hur.4 This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290558.1, SRR5189664.58023.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000209668.3/ ENSP00000209668.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## An alcohol + NAD(+) = an aldehyde or ketone + NADH. Binds 2 zinc ions per subunit. Dimer of identical or non-identical chains of three types; alpha, beta and gamma. Cytoplasm. There are 7 different ADH's isozymes in human: three belongs to class-I: alpha, beta, and gamma, one to class-II: pi, one to class-III: chi, one to class-IV: ADH7 and one to class- V: ADH6. Belongs to the zinc-containing alcohol dehydrogenase family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/adh1a/"; alcohol dehydrogenase (NAD) activity alcohol dehydrogenase activity, zinc-dependent retinol dehydrogenase activity protein binding nucleoplasm cytoplasm cytosol plasma membrane alcohol metabolic process ethanol oxidation zinc ion binding oxidoreductase activity drug metabolic process retinol metabolic process retinoic acid metabolic process metal ion binding oxidation-reduction process  uc003hur.1 uc003hur.2 uc003hur.3 uc003hur.4 
ENST00000209718.8 KRT23 ENST00000209718.8 Homo sapiens keratin 23 (KRT23), transcript variant 1, mRNA. (from RefSeq NM_015515) A8K084 ENST00000209718.1 ENST00000209718.2 ENST00000209718.3 ENST00000209718.4 ENST00000209718.5 ENST00000209718.6 ENST00000209718.7 K1C23_HUMAN NM_015515 Q9C075 Q9NUR6 uc002hvm.1 uc002hvm.2 uc002hvm.3 uc002hvm.4 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Heterotetramer of two type I and two type II keratins (By similarity). There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity cytosol intermediate filament keratinization cornification  uc002hvm.1 uc002hvm.2 uc002hvm.3 uc002hvm.4 
ENST00000209728.9 CDC6 ENST00000209728.9 Homo sapiens cell division cycle 6 (CDC6), mRNA. (from RefSeq NM_001254) CDC18L CDC6_HUMAN ENST00000209728.1 ENST00000209728.2 ENST00000209728.3 ENST00000209728.4 ENST00000209728.5 ENST00000209728.6 ENST00000209728.7 ENST00000209728.8 NM_001254 Q8TB30 Q99741 uc002huj.1 uc002huj.2 uc002huj.3 The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.4610.1, AK313620.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000209728.9/ ENSP00000209728.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated. Interacts with PCNA, ORC1L, cyclin-CDK and HUWE1. Q9H211:CDT1; NbExp=3; IntAct=EBI-374862, EBI-456953; Nucleus. Cytoplasm. Note=The protein is nuclear in G1 and cytoplasmic in S-phase cells. Defects in CDC6 are the cause of Meier-Gorlin syndrome type 5 (MGORS5) [MIM:613805]. MGORS5 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Belongs to the CDC6/cdc18 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CDC6ID40014ch17q21.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc6/"; DNA replication checkpoint regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle regulation of transcription involved in G1/S transition of mitotic cell cycle nucleotide binding mitotic cell cycle spindle pole DNA replication origin binding protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol DNA replication DNA replication initiation cell cycle traversing start control point of mitotic cell cycle negative regulation of DNA replication negative regulation of cell proliferation kinase binding regulation of mitotic metaphase/anaphase transition positive regulation of cytokinesis mitotic DNA replication checkpoint positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of fibroblast proliferation spindle midzone cell division positive regulation of chromosome segregation cellular response to vasopressin cellular response to angiotensin nucleolus  uc002huj.1 uc002huj.2 uc002huj.3 
ENST00000209873.9 AAAS ENST00000209873.9 Homo sapiens aladin WD repeat nucleoporin (AAAS), transcript variant 1, mRNA. (from RefSeq NM_015665) AAAS_HUMAN ADRACALA ENST00000209873.1 ENST00000209873.2 ENST00000209873.3 ENST00000209873.4 ENST00000209873.5 ENST00000209873.6 ENST00000209873.7 ENST00000209873.8 GL003 NM_015665 Q5JB47 Q9NRG9 Q9NWI6 Q9UG19 uc001scr.1 uc001scr.2 uc001scr.3 uc001scr.4 uc001scr.5 uc001scr.6 The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. Plays a role in the normal development of the peripheral and central nervous system. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=AAAS-v1; IsoId=Q9NRG9-1; Sequence=Displayed; Name=2; Synonyms=AAAS-v2; IsoId=Q9NRG9-2; Sequence=VSP_043014; Note=Ubiquitously expressed; Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung. Defects in AAAS are the cause of achalasia-addisonianism- alacrima syndrome (AAAS) [MIM:231550]; also known as triple-A syndrome or Allgrove syndrome. AAAS is an autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)- resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. Contains 4 WD repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AAAS"; spindle pole microtubule bundle formation molecular_function nucleus nuclear envelope nuclear pore nucleoplasm cytoplasm centrosome cytosol cytoskeleton regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus nucleocytoplasmic transport learning fertilization protein transport membrane viral process protein sumoylation viral transcription nuclear membrane host cell regulation of nucleocytoplasmic transport mRNA transport regulation of gene silencing by miRNA mitotic spindle intracellular transport of virus mitotic spindle assembly regulation of cellular response to heat  uc001scr.1 uc001scr.2 uc001scr.3 uc001scr.4 uc001scr.5 uc001scr.6 
ENST00000209875.9 CBX5 ENST00000209875.9 Homo sapiens chromobox 5 (CBX5), transcript variant 3, mRNA. (from RefSeq NM_012117) ENST00000209875.1 ENST00000209875.2 ENST00000209875.3 ENST00000209875.4 ENST00000209875.5 ENST00000209875.6 ENST00000209875.7 ENST00000209875.8 NM_012117 V9HWG0 uc001sfk.1 uc001sfk.2 uc001sfk.3 uc001sfk.4 uc001sfk.5 uc001sfk.6 uc001sfk.7 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008].  uc001sfk.1 uc001sfk.2 uc001sfk.3 uc001sfk.4 uc001sfk.5 uc001sfk.6 uc001sfk.7 
ENST00000209884.5 KLHL20 ENST00000209884.5 Homo sapiens kelch like family member 20 (KLHL20), mRNA. (from RefSeq NM_014458) B3KMA0 ENST00000209884.1 ENST00000209884.2 ENST00000209884.3 ENST00000209884.4 KLEIP KLH20_HUMAN NM_014458 Q5TZF2 Q5ZF45 Q9H457 Q9Y2M5 uc001gjc.1 uc001gjc.2 uc001gjc.3 uc001gjc.4 uc001gjc.5 uc001gjc.6 The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.43618.1, SRR1660803.104669.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000209884.5/ ENSP00000209884.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis. Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. Protein modification; protein ubiquitination. Component of the BCR(KLHL20) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL20 and RBX1. Interacts with DAPK1. Interacts with F-actin. Interacts with IFN-gamma (IFNG). P29590:PML; NbExp=4; IntAct=EBI-714379, EBI-295890; Cytoplasm, perinuclear region. Nucleus. Note=Localizes in the perinuclear region in normal conditions. Following IFN-alpha or IFN-gamma treatment, it is relocalized and sequestrated to the PML nuclear bodies, preventing DAPK1 ubiquitination. Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. actin binding ubiquitin-protein transferase activity protein binding nucleus cytoplasm Golgi apparatus trans-Golgi network cytosol Golgi to endosome transport cytoskeleton organization protein transport actin cytoskeleton protein ubiquitination PML body interferon-gamma binding axon dendrite Cul3-RING ubiquitin ligase complex response to interferon-alpha cell projection negative regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process post-translational protein modification perinuclear region of cytoplasm protein K33-linked ubiquitination  uc001gjc.1 uc001gjc.2 uc001gjc.3 uc001gjc.4 uc001gjc.5 uc001gjc.6 
ENST00000209929.10 FMO2 ENST00000209929.10 Homo sapiens flavin containing dimethylaniline monoxygenase 2 (FMO2), transcript variant 6, non-coding RNA. (from RefSeq NR_160266) ENST00000209929.1 ENST00000209929.2 ENST00000209929.3 ENST00000209929.4 ENST00000209929.5 ENST00000209929.6 ENST00000209929.7 ENST00000209929.8 ENST00000209929.9 FMO2_HUMAN NR_160266 Q5EBX4 Q86U73 Q99518 Q9BRX1 uc057ngi.1 uc057ngi.2 This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.72069.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## Catalyzes the N-oxidation of certain primary alkylamines to their oximes via an N-hydroxylamine intermediate. Inactive toward certain tertiary amines, such as imipramine or chloropromazine. Can catalyze the S-oxidation of methimazole. The truncated form is catalytically inactive. N,N-dimethylaniline + NADPH + O(2) = N,N- dimethylaniline N-oxide + NADP(+) + H(2)O. FAD. Magnesium. Microsome membrane. Endoplasmic reticulum membrane. Expressed in lung (at protein level). Expressed predominantly in lung, and at a much lesser extent in kidney. Also expressed in fetal lung, but not in liver, kidney and brain. The truncated form is probably unable to fold correctly and is rapidly degraded. FMO2*1 is sumoylated at 'Lys-492'. The sequence shown is that of the allele FMO2*2A. There are two alleles; one major, FMO2*2A (truncated form) and one minor, FMO2*1 (full-length form similar to the protein found in other mammals). A nonsense mutation transforms the Gln-472 of FMO2*1 in a premature stop codon. FMO2*2A occurs in essentially 100% of Caucasians and Asians. FMO2*1 is present at a frequency of approximately 4% to 13% in the sample of population of African descent. FMO2*2A is catalytically inactive. Belongs to the FMO family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fmo2/"; monooxygenase activity N,N-dimethylaniline monooxygenase activity endoplasmic reticulum endoplasmic reticulum membrane organic acid metabolic process NADP metabolic process xenobiotic metabolic process toxin metabolic process membrane integral component of membrane oxidoreductase activity drug metabolic process organelle membrane intracellular membrane-bounded organelle flavin adenine dinucleotide binding NADP binding oxidation-reduction process NADPH oxidation oxygen metabolic process  uc057ngi.1 uc057ngi.2 
ENST00000210060.12 DHPS ENST00000210060.12 Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 11, non-coding RNA. (from RefSeq NR_161469) A8K688 DHYS_HUMAN DS ENST00000210060.1 ENST00000210060.10 ENST00000210060.11 ENST00000210060.2 ENST00000210060.3 ENST00000210060.4 ENST00000210060.5 ENST00000210060.6 ENST00000210060.7 ENST00000210060.8 ENST00000210060.9 NR_161469 P49366 Q13184 Q13276 Q9UDG0 uc002muh.1 uc002muh.2 uc002muh.3 uc002muh.4 This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.499141.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a specific lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue. [eIF5A-precursor]-lysine + spermidine = [eIF5A-precursor]-deoxyhypusine + propane-1,3-diamine. NAD. Protein modification; eIF5A hypusination. Homotetramer formed by a dimer of dimers. Q9GZT8:NIF3L1; NbExp=3; IntAct=EBI-741925, EBI-740897; Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-741925, EBI-740486; Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P49366-1; Sequence=Displayed; Name=Short; IsoId=P49366-2; Sequence=VSP_001351; Note=Inactive; Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the deoxyhypusine synthase family. protein binding cytoplasm cytosol translation spermidine metabolic process positive regulation of cell proliferation peptidyl-lysine modification to peptidyl-hypusine transferase activity deoxyhypusine synthase activity identical protein binding  uc002muh.1 uc002muh.2 uc002muh.3 uc002muh.4 
ENST00000210187.11 RAB26 ENST00000210187.11 Homo sapiens RAB26, member RAS oncogene family (RAB26), transcript variant 1, mRNA. (from RefSeq NM_014353) ENST00000210187.1 ENST00000210187.10 ENST00000210187.2 ENST00000210187.3 ENST00000210187.4 ENST00000210187.5 ENST00000210187.6 ENST00000210187.7 ENST00000210187.8 ENST00000210187.9 NM_014353 Q3L6K5 Q6NXS7 Q9ULW5 RAB26_HUMAN uc002cou.1 uc002cou.2 uc002cou.3 uc002cou.4 uc002cou.5 Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]. Participates in exocrine secretion: regulates the secretion of acinar granules in the parotid gland (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Predominantly expressed in brain. Belongs to the small GTPase superfamily. Rab family. Sequence=BAA84707.1; Type=Erroneous initiation; Golgi membrane nucleotide binding GTPase activity protein binding GTP binding Golgi apparatus intracellular protein transport protein transport membrane regulation of exocytosis GMP binding transport vesicle membrane secretory granule membrane intrinsic component of plasma membrane cytoplasmic vesicle Rab protein signal transduction exocrine system development Golgi to plasma membrane protein transport regulated exocytosis anchored component of synaptic vesicle membrane regulation of protein catabolic process at presynapse, modulating synaptic transmission  uc002cou.1 uc002cou.2 uc002cou.3 uc002cou.4 uc002cou.5 
ENST00000210227.4 PTBP3 ENST00000210227.4 polypyrimidine tract binding protein 3 (from HGNC PTBP3) BC044585 ENST00000210227.1 ENST00000210227.2 ENST00000210227.3 X6R242 uc064vce.1  uc064vce.1 
ENST00000210313.8 PSMD5 ENST00000210313.8 Homo sapiens proteasome 26S subunit, non-ATPase 5 (PSMD5), transcript variant 1, mRNA. (from RefSeq NM_005047) ENST00000210313.1 ENST00000210313.2 ENST00000210313.3 ENST00000210313.4 ENST00000210313.5 ENST00000210313.6 ENST00000210313.7 KIAA0072 NM_005047 PSMD5_HUMAN Q15045 Q16401 Q4VXG8 uc004bko.1 uc004bko.2 uc004bko.3 uc004bko.4 uc004bko.5 uc004bko.6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]. Acts as a chaperone during the assembly of the 26S proteasome, specifically of the base subcomplex of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD5:PSMC2:PSMC1:PSMD2 module which probably assembles with a PSMD10:PSMC4:PSMC5:PAAF1 module followed by dissociation of PSMD5. Interacts with PSMC1, PSMC2, PSMD1 and PSMD6. Part of transient complex containing PSMD5, PSMC2, PSMC1 and PSMD2 formed during the assembly of the 26S proteasome. P35998:PSMC2; NbExp=4; IntAct=EBI-752143, EBI-359710; Rich in dileucine repeats, which have been implicated in trafficking of a variety of transmembrane proteins. Belongs to the proteasome subunit S5B/HSM3 family. Was initially identified as a genuine component of the 26S proteasome. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding nucleoplasm cytosol regulation of cellular amino acid metabolic process proteasome regulatory particle, base subcomplex negative regulation of G2/M transition of mitotic cell cycle protein deubiquitination proteasome accessory complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process proteasome assembly regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia interleukin-1-mediated signaling pathway proteasome regulatory particle assembly negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation  uc004bko.1 uc004bko.2 uc004bko.3 uc004bko.4 uc004bko.5 uc004bko.6 
ENST00000210444.6 NANS ENST00000210444.6 Homo sapiens N-acetylneuraminate synthase (NANS), mRNA. (from RefSeq NM_018946) B2RE98 ENST00000210444.1 ENST00000210444.2 ENST00000210444.3 ENST00000210444.4 ENST00000210444.5 NM_018946 Q8WUV9 Q9BWS6 Q9NR45 Q9NVD4 SAS SIAS_HUMAN uc004ayc.1 uc004ayc.2 uc004ayc.3 uc004ayc.4 uc004ayc.5 This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.231306.1, BC000008.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000210444.6/ ENSP00000210444.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3- deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N- acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively. Phosphoenolpyruvate + N-acetyl-D-mannosamine + H(2)O = phosphate + N-acetylneuraminate. Phosphoenolpyruvate + N-acyl-D-mannosamine 6- phosphate + H(2)O = N-acylneuraminate 9-phosphate + phosphate. Ubiquitous. Contains 1 AFP-like domain. catalytic activity cytoplasm cytosol CMP-N-acetylneuraminate biosynthetic process N-acylneuraminate cytidylyltransferase activity carbohydrate biosynthetic process transferase activity N-acylneuraminate-9-phosphate synthase activity N-acetylneuraminate synthase activity extracellular exosome  uc004ayc.1 uc004ayc.2 uc004ayc.3 uc004ayc.4 uc004ayc.5 
ENST00000210633.4 SEMA4G ENST00000210633.4 Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity). (from UniProt Q9NTN9) A1A5C6 A6NJY8 ENST00000210633.1 ENST00000210633.2 ENST00000210633.3 KIAA1619 NR_172057 Q58EY1 Q9HCF3 Q9NTN9 SEM4G_HUMAN uc001krw.1 uc001krw.2 uc001krw.3 uc001krw.4 Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity). Interacts with PLXNB2 (By similarity). Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NTN9-1; Sequence=Displayed; Name=2; IsoId=Q9NTN9-2; Sequence=VSP_035067; Note=No experimental confirmation available; Name=3; IsoId=Q9NTN9-3; Sequence=VSP_035067, VSP_043883; Note=No experimental confirmation available; Belongs to the semaphorin family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 PSI domain. Contains 1 Sema domain. Sequence=BAB13445.1; Type=Erroneous initiation; neural crest cell migration protein binding extracellular space plasma membrane integral component of plasma membrane multicellular organism development nervous system development membrane integral component of membrane cell differentiation semaphorin receptor binding positive regulation of cell migration chemorepellent activity negative regulation of axon extension involved in axon guidance negative chemotaxis semaphorin-plexin signaling pathway  uc001krw.1 uc001krw.2 uc001krw.3 uc001krw.4 
ENST00000211076.5 TPSD1 ENST00000211076.5 Homo sapiens tryptase delta 1 (TPSD1), mRNA. (from RefSeq NM_012217) ENST00000211076.1 ENST00000211076.2 ENST00000211076.3 ENST00000211076.4 NM_012217 O95824 Q8TDI6 Q96L36 Q96RZ5 Q9BZJ3 Q9H2Y6 Q9UQI8 TRYD_HUMAN uc002clb.1 uc002clb.2 uc002clb.3 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069143.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000211076.5/ ENSP00000211076.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type (By similarity). Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa, but with more restricted specificity than trypsin. Homotetramer (By similarity). Secreted (By similarity). Note=Released from the secretory granules upon mast cell activation (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BZJ3-1; Sequence=Displayed; Name=2; IsoId=Q9BZJ3-2; Sequence=VSP_008319; Expressed in colon, lung, heart and synovial tissue. May be specific to mast cells. Belongs to the peptidase S1 family. Tryptase subfamily. Contains 1 peptidase S1 domain. Although PubMed:11174199 reported this as a pseudogene, PubMed:12391231 showed it is expressed and has proteolytic activity when expressed in bacterial cells. Sequence=AAD17861.1; Type=Erroneous initiation; Sequence=AAK12909.1; Type=Erroneous initiation; serine-type endopeptidase activity extracellular region extracellular space proteolysis peptidase activity serine-type peptidase activity hydrolase activity  uc002clb.1 uc002clb.2 uc002clb.3 
ENST00000211122.4 GSTA3 ENST00000211122.4 Homo sapiens glutathione S-transferase alpha 3 (GSTA3), transcript variant 1, mRNA. (from RefSeq NM_000847) ENST00000211122.1 ENST00000211122.2 ENST00000211122.3 GSTA3_HUMAN NM_000847 O43468 Q068V6 Q16772 Q8WWA8 Q9H415 uc003pbb.1 uc003pbb.2 uc003pbb.3 uc003pbb.4 uc003pbb.5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)- pregnene-3,20-dione, precursors to testosterone and progesterone, respectively. RX + glutathione = HX + R-S-glutathione. Kinetic parameters: KM=23 uM for delta(5)-androstene-3,17-dione; Vmax=99 umol/min/mg enzyme for delta(5)-androstene-3,17-dione isomerization; Homodimer. Cytoplasm. Belongs to the GST superfamily. Alpha family. Contains 1 GST C-terminal domain. Contains 1 GST N-terminal domain. Sequence=AAA74634.1; Type=Erroneous initiation; Sequence=AAD04712.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gsta3/"; glutathione transferase activity cytoplasm cytosol glutathione metabolic process xenobiotic metabolic process transferase activity extracellular exosome glutathione derivative biosynthetic process  uc003pbb.1 uc003pbb.2 uc003pbb.3 uc003pbb.4 uc003pbb.5 
ENST00000211287.9 MAPK13 ENST00000211287.9 Homo sapiens mitogen-activated protein kinase 13 (MAPK13), transcript variant 1, mRNA. (from RefSeq NM_002754) ENST00000211287.1 ENST00000211287.2 ENST00000211287.3 ENST00000211287.4 ENST00000211287.5 ENST00000211287.6 ENST00000211287.7 ENST00000211287.8 MK13_HUMAN NM_002754 O14739 O15124 O15264 PRKM13 Q6FI46 Q9UNU0 SAPK4 uc003ols.1 uc003ols.2 uc003ols.3 uc003ols.4 uc003ols.5 uc003ols.6 This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]. Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studied p38 MAPK isoforms. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K. Involved in cytoskeletal remodeling through phosphorylation of MAPT and STMN1. Mediates UV irradiation induced up-regulation of the gene expression of CXCL14. Plays an important role in the regulation of epidermal keratinocyte differentiation, apoptosis and skin tumor development. Phosphorylates the transcriptional activator MYB in response to stress which leads to rapid MYB degradation via a proteasome-dependent pathway. MAPK13 also phosphorylates and down-regulates PRKD1 during regulation of insulin secretion in pancreatic beta cells. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated by phosphorylation on threonine and tyrosine by dual specificity kinases, MAP2K3/MKK3, MAP2K6/MKK6, MAP2K4/MKK4 and MAP2K7/MKK7. Activation by ultraviolet radiation, hyperosmotic shock, anisomycin or by TNF-alpha is mediated by MAP2K3/MKK3. Inhibited by dual specificity phosphatase DUSP1. Interacts with MAPK8IP2. P21462:FPR1; NbExp=3; IntAct=EBI-2116951, EBI-2869495; Q15139:PRKD1; NbExp=6; IntAct=EBI-2116951, EBI-1181072; Expressed in testes, pancreas, small intestine, lung and kidney. Abundant in macrophages, also present in neutrophils, CD4+ T-cells, and endothelial cells. The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases. Dually phosphorylated on Thr-180 and Tyr-182 by MAP2K3/MKK3, MAP2K4/MKK4, MAP2K6/MKK6 and MAP2K7/MKK7, which activates the enzyme. Dephosphorylated by dual specificity phosphatase DUSP1. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. MAPK cascade nucleotide binding protein kinase activity protein serine/threonine kinase activity MAP kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein phosphorylation response to osmotic stress cell cycle regulation of gene expression kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation positive regulation of interleukin-6 production cellular response to UV intracellular signal transduction positive regulation of inflammatory response stress-activated MAPK cascade cellular response to hydrogen peroxide cellular response to interleukin-1 cellular response to sorbitol cellular response to anisomycin cellular response to sodium arsenite  uc003ols.1 uc003ols.2 uc003ols.3 uc003ols.4 uc003ols.5 uc003ols.6 
ENST00000211314.5 TMEM14A ENST00000211314.5 Homo sapiens transmembrane protein 14A (TMEM14A), mRNA. (from RefSeq NM_014051) B2R552 C6orf73 ENST00000211314.1 ENST00000211314.2 ENST00000211314.3 ENST00000211314.4 NM_014051 PTD011 Q9Y6G1 TM14A_HUMAN uc003pax.1 uc003pax.2 uc003pax.3 uc003pax.4 uc003pax.5 Membrane; Multi-pass membrane protein (Potential). Belongs to the UPF0136 (TMEM14) family. protein binding mitochondrion endoplasmic reticulum endoplasmic reticulum membrane apoptotic process membrane integral component of membrane mitochondrial membrane negative regulation of apoptotic process negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  uc003pax.1 uc003pax.2 uc003pax.3 uc003pax.4 uc003pax.5 
ENST00000211372.9 RPS18 ENST00000211372.9 Homo sapiens ribosomal protein S18 (RPS18), mRNA. (from RefSeq NM_022551) D6S218E ENST00000211372.1 ENST00000211372.2 ENST00000211372.3 ENST00000211372.4 ENST00000211372.5 ENST00000211372.6 ENST00000211372.7 ENST00000211372.8 NM_022551 P25232 P62269 Q5SUJ3 Q6IPF8 RS18_HUMAN uc302whh.1 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189661.4343.1, CD173693.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000439602.7/ ENSP00000393241.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Located at the top of the head of the 40S subunit, it contacts several helices of the 18S rRNA (By similarity). Cytoplasm. Belongs to the ribosomal protein S13P family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay nucleic acid binding RNA binding structural constituent of ribosome protein binding nucleus nucleoplasm cytoplasm cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane postsynaptic density small ribosomal subunit membrane viral transcription rRNA binding cytosolic small ribosomal subunit extracellular exosome  uc302whh.1 
ENST00000211377.7 GPANK1 ENST00000211377.7 Homo sapiens G-patch domain and ankyrin repeats 1 (GPANK1), transcript variant 2, mRNA. (from RefSeq NM_033177) A6NG25 ANKRD59 B0UXA2 BAT4 ENST00000211377.1 ENST00000211377.2 ENST00000211377.3 ENST00000211377.4 ENST00000211377.5 ENST00000211377.6 G5 GPAN1_HUMAN GPATCH10 NM_033177 O95872 Q5SQ49 uc302whi.1 This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]. Contains 2 ANK repeats. Contains 1 G-patch domain. nucleic acid binding protein binding  uc302whi.1 
ENST00000211379.9 BAG6 ENST00000211379.9 Homo sapiens BAG cochaperone 6 (BAG6), transcript variant 3, mRNA. (from RefSeq NM_080703) A2ADJ7 A3KQ42 A3KQ44 A6NGY6 A6PWF7 B0UX84 BAG6_HUMAN BAT3 ENST00000211379.1 ENST00000211379.2 ENST00000211379.3 ENST00000211379.4 ENST00000211379.5 ENST00000211379.6 ENST00000211379.7 ENST00000211379.8 G3 NM_080703 O95874 P46379 Q5HYL9 Q5SQ35 Q5SQ36 Q5SQ37 Q5SQ41 Q5SRP8 Q5SRP9 Q5STC1 Q5STX1 Q5STX3 Q96SA6 Q9BCN4 uc003nvi.1 uc003nvi.2 uc003nvi.3 uc003nvi.4 uc003nvi.5 This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Chaperone that plays a key role in various processes such as apoptosis, insertion of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane and regulation of chromatin. Acts in part by regulating stability of proteins and their degradation by the proteasome. Participates in endoplasmic reticulum stress-induced apoptosis via its interaction with AIFM1/AIF by regulating AIFM1/AIF stability and preventing its degradation. Also required during spermatogenesis for synaptonemal complex assembly via its interaction with HSPA2, by inhibiting polyubiquitination and subsequent proteasomal degradation of HSPA2. Required for selective ubiquitin-mediated degradation of defective nascent chain polypeptides by the proteasome. In this context, may play a role in immuno-proteasomes to generate antigenic peptides via targeted degradation, thereby playing a role in antigen presentation in immune response. Key component of the BAG6/BAT3 complex, a cytosolic multiprotein complex involved in the post-translational delivery of tail-anchored (TA) membrane proteins to the endoplasmic reticulum membrane. TA membrane proteins, also named type II transmembrane proteins, contain a single C-terminal transmembrane region. BAG6/BAT3 acts by facilitating TA membrane proteins capture by ASNA1/TRC40: it is recruited to ribosomes synthesizing membrane proteins, interacts with the transmembrane region of newly released TA proteins and transfers them to ASNA1/TRC40 for targeting to the endoplasmic reticulum membrane. Involved in DNA damage-induced apoptosis: following DNA damage, accumulates in the nucleus and forms a complex with p300/EP300, enhancing p300/EP300-mediated p53/TP53 acetylation leading to increase p53/TP53 transcriptional activity. When nuclear, may also act as a component of some chromatin regulator complex that regulates histone 3 'Lys-4' dimethylation (H3K4me2). Can be released from tumor and dendritic cells in membrane vesicles or exosomes, and engage NCR3 thereby promoting natural killer cell (NK) activation and cytotoxicity. Component of the BAT3 complex, at least composed of BAG6/BAT3, UBL4A and GET3/TRC35. Interacts with AIFM1, CTCFL, HSPA2 and p300/EP300. Interacts with ricin A chain. Interacts with L.pneumophila proteins Lpg2160 and LegU1. Interacts with NCR3. Q7Z434:MAVS; NbExp=2; IntAct=EBI-347552, EBI-995373; Cytoplasm, cytosol. Nucleus. Note=The C- terminal fragment generated by caspase-3 is cytoplasmic. Also found in extracellular vesicular exosomes in some tumor cells. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P46379-1; Sequence=Displayed; Name=2; IsoId=P46379-2; Sequence=VSP_015695; Name=3; IsoId=P46379-3; Sequence=VSP_015695, VSP_030519; Note=No experimental confirmation available; Cleavage by caspase-3 releases a C-terminal peptide that plays a role in ricin-induced apoptosis. In case of infection by L.pneumophila, ubiquitinated by the SCF(LegU1) complex. Contains 1 ubiquitin-like domain. Sequence=AAD18085.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB63390.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAI18318.2; Type=Erroneous gene model prediction; kidney development immune system process immune response-activating cell surface receptor signaling pathway receptor binding protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol chromatin organization ubiquitin-dependent protein catabolic process apoptotic process synaptonemal complex assembly spermatogenesis brain development proteasomal protein catabolic process membrane internal peptidyl-lysine acetylation natural killer cell activation cell differentiation lung development ER-associated ubiquitin-dependent protein catabolic process Hsp70 protein binding polyubiquitin binding ubiquitin protein ligase binding negative regulation of proteasomal ubiquitin-dependent protein catabolic process regulation of cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator identical protein binding regulation of apoptotic process ribosome binding negative regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process intracellular membrane-bounded organelle negative regulation of proteolysis regulation of embryonic development protein stabilization misfolded protein binding intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress extracellular exosome proteasome binding ER-associated misfolded protein catabolic process tail-anchored membrane protein insertion into ER membrane BAT3 complex positive regulation of ERAD pathway maintenance of unfolded protein involved in ERAD pathway protein localization to cytosolic proteasome complex involved in ERAD pathway ubiquitin-specific protease binding  uc003nvi.1 uc003nvi.2 uc003nvi.3 uc003nvi.4 uc003nvi.5 
ENST00000211402.10 VARS1 ENST00000211402.10 Homo sapiens valyl-tRNA synthetase 1 (VARS1), mRNA. (from RefSeq NM_006295) B0V1N1 ENST00000211402.1 ENST00000211402.2 ENST00000211402.3 ENST00000211402.4 ENST00000211402.5 ENST00000211402.6 ENST00000211402.7 ENST00000211402.8 ENST00000211402.9 G7A NM_006295 P26640 Q5JQ90 Q96E77 Q9UQM2 SYVC_HUMAN VARS VARS2 uc302whj.1 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X59303.1, BC012808.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology MANE Ensembl match :: ENST00000375663.8/ ENSP00000364815.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## ATP + L-valine + tRNA(Val) = AMP + diphosphate + L-valyl-tRNA(Val). Can be regulated by protein kinase C-dependent phosphorylation. Forms high-molecular-mass aggregates with elongation factor 1. Q05639:EEF1A2; NbExp=1; IntAct=EBI-355765, EBI-354943; P11171:EPB41; NbExp=1; IntAct=EBI-355765, EBI-1050906; P30480:HLA-B; NbExp=1; IntAct=EBI-355765, EBI-1054175; P19532:TFE3; NbExp=1; IntAct=EBI-355765, EBI-1048957; Q9Y4K3:TRAF6; NbExp=1; IntAct=EBI-355765, EBI-359276; Belongs to the class-I aminoacyl-tRNA synthetase family. Contains 1 GST C-terminal domain. Sequence=CAA41990.1; Type=Frameshift; Positions=620, 640; nucleotide binding aminoacyl-tRNA editing activity aminoacyl-tRNA ligase activity valine-tRNA ligase activity protein binding ATP binding cytoplasm cytosol translation tRNA aminoacylation for protein translation valyl-tRNA aminoacylation ligase activity  uc302whj.1 
ENST00000211413.10 PRRT1 ENST00000211413.10 Homo sapiens proline rich transmembrane protein 1 (PRRT1), transcript variant 1, mRNA. (from RefSeq NM_030651) A6ND08 A6ND40 B0S869 C6orf31 ENST00000211413.1 ENST00000211413.2 ENST00000211413.3 ENST00000211413.4 ENST00000211413.5 ENST00000211413.6 ENST00000211413.7 ENST00000211413.8 ENST00000211413.9 NG5 NM_030651 PRRT1_HUMAN Q5SSW4 Q5SSX7 Q5STI1 Q96DW3 Q96NQ8 Q99946 uc003nzt.1 uc003nzt.2 uc003nzt.3 uc003nzt.4 uc003nzt.5 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99946-1; Sequence=Displayed; Name=2; IsoId=Q99946-2; Sequence=VSP_003808; Note=No experimental confirmation available; Belongs to the CD225/Dispanin family. plasma membrane membrane integral component of membrane cell junction synapse glutamatergic synapse integral component of postsynaptic membrane  uc003nzt.1 uc003nzt.2 uc003nzt.3 uc003nzt.4 uc003nzt.5 
ENST00000211921.11 LST1 ENST00000211921.11 leukocyte specific transcript 1 (from HGNC LST1) AF000426 DAAP-90L16.2-012 DADB-70P7.4-012 DAMA-25N12.8-012 DAMC-81L12.3-012 DAQB-87N14.1-012 DASS-280D8.5-003 ENST00000211921.1 ENST00000211921.10 ENST00000211921.2 ENST00000211921.3 ENST00000211921.4 ENST00000211921.5 ENST00000211921.6 ENST00000211921.7 ENST00000211921.8 ENST00000211921.9 Q5STB1 Q5STB1_HUMAN uc063ncc.1  uc063ncc.1 
ENST00000211936.10 ZNF184 ENST00000211936.10 Homo sapiens zinc finger protein 184 (ZNF184), transcript variant 3, mRNA. (from RefSeq NM_007149) B2R715 ENST00000211936.1 ENST00000211936.2 ENST00000211936.3 ENST00000211936.4 ENST00000211936.5 ENST00000211936.6 ENST00000211936.7 ENST00000211936.8 ENST00000211936.9 NM_007149 O60792 Q8TBA9 Q99676 ZN184_HUMAN uc003nji.1 uc003nji.2 uc003nji.3 uc003nji.4 The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]. May be involved in transcriptional regulation. Nucleus (Probable). Predominant expression in testis. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 19 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated zinc ion binding metal ion binding  uc003nji.1 uc003nji.2 uc003nji.3 uc003nji.4 
ENST00000211998.10 VCL ENST00000211998.10 Homo sapiens vinculin (VCL), transcript variant 1, mRNA. (from RefSeq NM_014000) ENST00000211998.1 ENST00000211998.2 ENST00000211998.3 ENST00000211998.4 ENST00000211998.5 ENST00000211998.6 ENST00000211998.7 ENST00000211998.8 ENST00000211998.9 NM_014000 V9HWK2 uc001jwd.1 uc001jwd.2 uc001jwd.3 uc001jwd.4 uc001jwd.5 uc001jwd.6 Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008].  uc001jwd.1 uc001jwd.2 uc001jwd.3 uc001jwd.4 uc001jwd.5 uc001jwd.6 
ENST00000212015.11 SIRT1 ENST00000212015.11 Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA. (from RefSeq NM_012238) ENST00000212015.1 ENST00000212015.10 ENST00000212015.2 ENST00000212015.3 ENST00000212015.4 ENST00000212015.5 ENST00000212015.6 ENST00000212015.7 ENST00000212015.8 ENST00000212015.9 NM_012238 Q2XNF6 Q5JVQ0 Q96EB6 Q9GZR9 Q9Y6F0 SIR1_HUMAN SIR2L1 uc001jnd.1 uc001jnd.2 uc001jnd.3 uc001jnd.4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]. NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metobolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively. Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction. Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. Deacetylates 'Lys-266' of SUV39H1, leading to its activation. Inhibits skeletal muscle differentiation by deacetylating PCAF and MYOD1. Deacetylates H2A and 'Lys-26' of HIST1H1E. Deacetylates 'Lys-16' of histone H4 (in vitro). Involved in NR0B2/SHP corepression function through chromatin remodeling: Recruited to LRH1 target gene promoters by NR0B2/SHP thereby stimulating histone H3 and H4 deacetylation leading to transcriptional repression. Proposed to contribute to genomic integrity via positive regulation of telomere length; however, reports on localization to pericentromeric heterochromatin are conflicting. Proposed to play a role in constitutive heterochromatin (CH) formation and/or maintenance through regulation of the available pool of nuclear SUV39H1. Upon oxidative/metabolic stress decreases SUV39H1 degradation by inhibiting SUV39H1 polyubiquitination by MDM2. This increase in SUV39H1 levels enhances SUV39H1 turnover in CH, which in turn seems to accelerate renewal of the heterochromatin which correlates with greater genomic integrity during stress response. Deacetylates 'Lys-382' of p53/TP53 and impairs its ability to induce transcription-dependent proapoptotic program and modulate cell senescence. Deacetylates TAF1B and thereby represses rDNA transcription by the RNA polymerase I. Deacetylates MYC, promotes the association of MYC with MAX and decreases MYC stability leading to compromised transformational capability. Deacetylates FOXO3 in response to oxidative stress thereby increasing its ability to induce cell cycle arrest and resistance to oxidative stress but inhibiting FOXO3-mediated induction of apoptosis transcriptional activity; also leading to FOXO3 ubiquitination and protesomal degradation. Appears to have a similar effect on MLLT7/FOXO4 in regulation of transcriptional activity and apoptosis. Deacetylates DNMT1; thereby impairs DNMT1 methyltransferase-independent transcription repressor activity, modulates DNMT1 cell cycle regulatory function and DNMT1-mediated gene silencing. Deacetylates RELA/NF-kappa-B p65 thereby inhibiting its transactivating potential and augments apoptosis in response to TNF-alpha. Deacetylates HIF1A, KAT5/TIP60, RB1 and HIC1. Deacetylates FOXO1 resulting in its nuclear retention and enhancement of its transcriptional activity leading to increased gluconeogenesis in liver. Inhibits E2F1 transcriptional activity and apoptotic function, possibly by deacetylation. Involved in HES1- and HEY2-mediated transcriptional repression. In cooperation with MYCN seems to be involved in transcriptional repression of DUSP6/MAPK3 leading to MYCN stabilization by phosphorylation at 'Ser-62'. Deacetylates MEF2D. Required for antagonist-mediated transcription suppression of AR-dependent genes which may be linked to local deacetylation of histone H3. Represses HNF1A- mediated transcription. Required for the repression of ESRRG by CREBZF. Modulates AP-1 transcription factor activity. Deacetylates NR1H3 AND NR1H2 and deacetylation of NR1H3 at 'Lys-434' positively regulates transcription of NR1H3:RXR target genes, promotes NR1H3 proteosomal degradation and results in cholesterol efflux; a promoter clearing mechanism after reach round of transcription is proposed. Involved in lipid metabolism. Implicated in regulation of adipogenesis and fat mobilization in white adipocytes by repression of PPARG which probably involves association with NCOR1 and SMRT/NCOR2. Deacetylates ACSS2 leading to its activation, and HMGCS1. Involved in liver and muscle metabolism. Through deacteylation and activation of PPARGC1A is required to activate fatty acid oxidation in skeletel muscle under low-glucose conditions and is involved in glucose homeostasis. Involved in regulation of PPARA and fatty acid beta-oxidation in liver. Involved in positive regulation of insulin secretion in pancreatic beta cells in response to glucose; the function seems to imply transcriptional repression of UCP2. Proposed to deacetylate IRS2 thereby facilitating its insuline-induced tyrosine phosphorylation. Deacetylates SREBF1 isoform SREBP-1C thereby decreasing its stability and transactivation in lipogenic gene expression. Involved in DNA damage response by repressing genes which are involved in DNA repair, such as XPC and TP73, deacetylating XRCC6/Ku70, and faciliting recruitment of additional factors to sites of damaged DNA, such as SIRT1-deacetylated NBN can recruit ATM to initiate DNA repair and SIRT1-deacetylated XPA interacts with RPA2. Also involved in DNA repair of DNA double- strand breaks by homologous recombination and specifically single- strand annealing independently of XRCC6/Ku70 and NBN. Transcriptional suppression of XPC probably involves an E2F4:RBL2 suppressor complex and protein kinase B (AKT) signaling. Transcriptional suppression of TP73 probably involves E2F4 and PCAF. Deacetylates WRN thereby regulating its helicase and exonuclease activities and regulates WRN nuclear translocation in response to DNA damage. Deacetylates APEX1 at 'Lys-6' and 'Lys-7' and stimulates cellular AP endonuclease activity by promoting the association of APEX1 to XRCC1. Increases p53/TP53-mediated transcription-independent apoptosis by blocking nuclear translocation of cytoplasmic p53/TP53 and probably redirecting it to mitochondria. Deacetylates XRCC6/Ku70 at 'Lys-539' and 'Lys- 542' causing it to sequester BAX away from mitochondria thereby inhibiting stress-induced apoptosis. Is involved in autophagy, presumably by deacetylating ATG5, ATG7 and MAP1LC3B/ATG8. Deacetylates AKT1 which leads to enhanced binding of AKT1 and PDK1 to PIP3 and promotes their activation. Proposed to play role in regulation of STK11/LBK1-dependent AMPK signaling pathways implicated in cellular senescence which seems to involve the regulation of the acetylation status of STK11/LBK1. Can deacetylate STK11/LBK1 and thereby increase its activity, cytoplasmic localization and association with STRAD; however, the relevance of such activity in normal cells is unclear. In endothelial cells is shown to inhibit STK11/LBK1 activity and to promote its degradation. Deacetylates SMAD7 at 'Lys-64' and 'Lys- 70' thereby promoting its degradation. Deacetylates CIITA and augments its MHC class II transacivation and contributes to its stability. Deacteylates MECOM/EVI1. Isoform 2 is shown to deacetylate 'Lys-382' of p53/TP53, however with lower activity than isoform 1. In combination, the two isoforms exert an additive effect. Isoform 2 regulates p53/TP53 expression and cellular stress response and is in turn repressed by p53/TP53 presenting a SIRT1 isoform-dependent auto-regulatory loop. In case of HIV-1 infection, interacts with and deacetylates the viral Tat protein. The viral Tat protein inhibits SIRT1 deacetylation activity toward RELA/NF-kappa-B p65, thereby potentiates its transcriptional activity and SIRT1 is proposed to contribute to T-cell hyperactivation during infection. SirtT1 75 kDa fragment: catalytically inactive 75SirT1 may be involved in regulation of apoptosis. May be involved in protecting chondrocytes from apoptotic death by associating with cytochrome C and interfering with apoptosome assembly. NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein. Binds 1 zinc ion per subunit (By similarity). Inhibited by nicotinamide. Activated by resveratrol (3,5,4'-trihydroxy-trans-stilbene), butein (3,4,2',4'- tetrahydroxychalcone), piceatannol (3,5,3',4'-tetrahydroxy-trans- stilbene), Isoliquiritigenin (4,2',4'-trihydroxychalcone), fisetin (3,7,3',4'-tetrahydroxyflavone) and quercetin (3,5,7,3',4'- pentahydroxyflavone). MAPK8/JNK1 and RPS19BP1/AROS act as positive regulators of deacetylation activity. Negatively regulated by KIAA1967/DBC1. Found in a complex with PCAF and MYOD1. Interacts with FOXO1; the interaction deacetylates FOXO1, resulting in its nuclear retention and promotion of its transcriptional activity Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8. Interacts with HES1, HEY2 and PML. Interacts with RPS19BP1/AROS. Interacts with KIAA1967/DBC1 (via N-terminus); the interaction disrupts the interaction between SIRT1 and p53/TP53. Interacts with SETD7; the interaction induces the dissociation of SIRT1 from p53/TP53 and increases p53/TP53 activity. Interacts with MYCN, NR1I2, CREBZF, TSC2, TLE1, FOS, JUN, NR0B2, PPARG, NCOR, IRS1, IRS2 and NMNAT1. Interacts with HNF1A; the interaction occurs under nutrient restriction. Interacts with SUZ12; the interaction mediates the association with the PRC4 histone methylation complex which is specific as an association with PCR2 and PCR3 complex variants is not found. Interacts with HIV-1 tat. Q13085:ACACA; NbExp=3; IntAct=EBI-1802965, EBI-717681; P31749:AKT1; NbExp=5; IntAct=EBI-1802965, EBI-296087; P27695:APEX1; NbExp=6; IntAct=EBI-1802965, EBI-1048805; P33076:CIITA; NbExp=4; IntAct=EBI-1802965, EBI-1538819; Q9NS37:CREBZF; NbExp=3; IntAct=EBI-1802965, EBI-632965; P68400:CSNK2A1; NbExp=2; IntAct=EBI-1802965, EBI-347804; P26358:DNMT1; NbExp=11; IntAct=EBI-1802965, EBI-719459; Q01094:E2F1; NbExp=3; IntAct=EBI-1802965, EBI-448924; Q09472:EP300; NbExp=2; IntAct=EBI-1802965, EBI-447295; Q14192:FHL2; NbExp=2; IntAct=EBI-1802965, EBI-701903; Q12778:FOXO1; NbExp=3; IntAct=EBI-1802965, EBI-1108782; Q9R1E0:Foxo1 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-1371343; O43524:FOXO3; NbExp=5; IntAct=EBI-1802965, EBI-1644164; P98177:FOXO4; NbExp=3; IntAct=EBI-1802965, EBI-4481939; P51610:HCFC1; NbExp=2; IntAct=EBI-1802965, EBI-396176; Q14469:HES1; NbExp=4; IntAct=EBI-1802965, EBI-2832522; Q9UBP5:HEY2; NbExp=3; IntAct=EBI-1802965, EBI-750630; Q9Y4H2:IRS2; NbExp=2; IntAct=EBI-1802965, EBI-1049582; Q92831:KAT2B; NbExp=3; IntAct=EBI-1802965, EBI-477430; Q8N163:KIAA1967; NbExp=9; IntAct=EBI-1802965, EBI-355410; Q03112:MECOM; NbExp=2; IntAct=EBI-1802965, EBI-1384862; P42345:MTOR; NbExp=2; IntAct=EBI-1802965, EBI-359260; P01106:MYC; NbExp=4; IntAct=EBI-1802965, EBI-447544; P04198:MYCN; NbExp=3; IntAct=EBI-1802965, EBI-878369; O60934:NBN; NbExp=5; IntAct=EBI-1802965, EBI-494844; Q60974:Ncor1 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-349004; Q02577:NHLH2; NbExp=2; IntAct=EBI-1802965, EBI-5378683; Q9HAN9:NMNAT1; NbExp=3; IntAct=EBI-1802965, EBI-3917542; Q15466:NR0B2; NbExp=6; IntAct=EBI-1802965, EBI-3910729; Q60644:Nr1h2 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-5276809; Q9Z0Y9:Nr1h3 (xeno); NbExp=2; IntAct=EBI-1802965, EBI-5276764; P27986:PIK3R1; NbExp=3; IntAct=EBI-1802965, EBI-79464; P10276:RARA; NbExp=3; IntAct=EBI-1802965, EBI-413374; Q04206:RELA; NbExp=4; IntAct=EBI-1802965, EBI-73886; Q86WX3:RPS19BP1; NbExp=9; IntAct=EBI-1802965, EBI-4479407; Q8N122:RPTOR; NbExp=3; IntAct=EBI-1802965, EBI-1567928; O43159:RRP8; NbExp=3; IntAct=EBI-1802965, EBI-2008793; Q13573:SNW1; NbExp=7; IntAct=EBI-1802965, EBI-632715; P36956-3:SREBF1; NbExp=2; IntAct=EBI-1802965, EBI-948338; O54864:Suv39h1 (xeno); NbExp=4; IntAct=EBI-1802965, EBI-302230; P04608:tat (xeno); NbExp=3; IntAct=EBI-1802965, EBI-6164389; Q04724:TLE1; NbExp=4; IntAct=EBI-1802965, EBI-711424; P04637:TP53; NbExp=13; IntAct=EBI-1802965, EBI-366083; O15350:TP73; NbExp=4; IntAct=EBI-1802965, EBI-389606; P49815:TSC2; NbExp=2; IntAct=EBI-1802965, EBI-396587; Q14191:WRN; NbExp=9; IntAct=EBI-1802965, EBI-368417; P23025:XPA; NbExp=8; IntAct=EBI-1802965, EBI-295222; P12956:XRCC6; NbExp=7; IntAct=EBI-1802965, EBI-353208; Nucleus, PML body. Cytoplasm. Note=Recruited to the nuclear bodies via its interaction with PML. Colocalized with APEX1 in the nucleus. May be found in nucleolus, nuclear euchromatin, heterochromatin and inner membrane. Shuttles between nucleus and cytoplasm. SirtT1 75 kDa fragment: Cytoplasm. Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EB6-1; Sequence=Displayed; Name=2; Synonyms=delta-exon8; IsoId=Q96EB6-2; Sequence=VSP_042189; Widely expressed. Up-regulated by methyl methanesulfonate (MMS). In H293T cells by presence of rat calorie restriction (CR) serum. Methylated on multiple lysine residues; methylation is enhanced after DNA damage and is dispensable for deacetylase activity toward p53/TP53. Phosphorylated. Phosphorylated by STK4/MST1, resulting in inhibition of SIRT1-mediated p53/TP53 deacetylation. Phosphorylation by MAPK8/JNK1 at Ser-27, Ser-47, and Thr-530 leads to increased nuclear localization and enzymatic activity. Phosphorylation at Thr-530 by DYRK1A and DYRK3 acivates deacetylase activity and promotes cell survival. Phosphorylation by mammalian target of rapamycin complex 1 (mTORC1) at Ser-47 inhibits deacetylation activity. Phosphorylated by CaMK2, leading to increased p53/TP53 and NF-kappa-B p65/RELA deacetylation activity (By similarity). Phosphorylation at Ser-27 implicating MAPK9 is linked to protein stability. There is some ambiguity for some phosphosites: Ser-159/Ser-162 and Thr-544/Ser-545. Proteolytically cleaved by cathepsin B upon TNF-alpha treatment to yield catalytic inactive but stable SirtT1 75 kDa fragment (75SirT1). S-nitrosylated by GAPDH, leading to inhibit the NAD-dependent protein deacetylase activity (By similarity). Red wine, which contains resveratrol, may participate in activation of sirtuin proteins, and may therefore participate in an extended lifespan as it has been observed in yeast. Calf histone H1 is used as substrate in the in vitro deacetylation assay (PubMed:15469825). As, in vivo, interaction occurs between SIRT1 with HIST1H1E, deacetylation has been validated only for HIST1H1E. The reported ADP-ribosyltransferase activity of sirtuins is likely some inefficient side reaction of the deacetylase activity and may not be physiologically relevant (PubMed:19220062). Belongs to the sirtuin family. Class I subfamily. Contains 1 deacetylase sirtuin-type domain. Sequence=AAH12499.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/sirt1/"; single strand break repair negative regulation of transcription from RNA polymerase II promoter chromatin silencing at rDNA pyrimidine dimer repair by nucleotide-excision repair DNA synthesis involved in DNA repair chromatin nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis ovulation from ovarian follicle cellular glucose homeostasis positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation p53 binding positive regulation of adaptive immune response transcription corepressor activity histone deacetylase activity protein binding nucleus nuclear envelope nuclear inner membrane nucleoplasm chromatin silencing complex nuclear euchromatin nuclear heterochromatin nucleolus cytoplasm mitochondrion cytosol chromatin organization establishment of chromatin silencing maintenance of chromatin silencing methylation-dependent chromatin silencing rRNA processing protein deacetylation triglyceride mobilization apoptotic process cellular response to DNA damage stimulus response to oxidative stress transforming growth factor beta receptor signaling pathway multicellular organism development spermatogenesis regulation of mitotic cell cycle muscle organ development cell aging circadian rhythm protein C-terminus binding transcription factor binding positive regulation of cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage cellular response to starvation negative regulation of gene expression positive regulation of cholesterol efflux regulation of lipid storage regulation of glucose metabolic process macrophage cytokine production positive regulation of phosphatidylinositol 3-kinase signaling viral process positive regulation of macroautophagy protein ubiquitination histone deacetylation PML body hydrolase activity NAD-dependent histone deacetylase activity peptidyl-lysine acetylation deacetylase activity enzyme binding protein domain specific binding cell differentiation macrophage differentiation negative regulation of cell growth negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of prostaglandin biosynthetic process protein destabilization positive regulation of chromatin silencing negative regulation of TOR signaling regulation of endodeoxyribonuclease activity negative regulation of NF-kappaB transcription factor activity response to insulin circadian regulation of gene expression leptin-mediated signaling pathway rDNA heterochromatin protein deacetylase activity regulation of smooth muscle cell apoptotic process NAD-dependent protein deacetylase activity peptidyl-lysine deacetylation nuclear hormone receptor binding cellular triglyceride homeostasis regulation of peroxisome proliferator activated receptor signaling pathway regulation of cell proliferation negative regulation of phosphorylation histone binding response to hydrogen peroxide behavioral response to starvation cholesterol homeostasis intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator identical protein binding regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of I-kappaB kinase/NF-kappaB signaling proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process HLH domain binding bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of DNA damage response, signal transduction by p53 class mediator positive regulation of blood vessel endothelial cell migration response to leptin positive regulation of MHC class II biosynthetic process negative regulation of fat cell differentiation positive regulation of gluconeogenesis positive regulation of DNA repair positive regulation of angiogenesis negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of insulin receptor signaling pathway metal ion binding NAD-dependent histone deacetylase activity (H3-K9 specific) rhythmic process white fat cell differentiation mitogen-activated protein kinase binding negative regulation of helicase activity positive regulation of smooth muscle cell differentiation positive regulation of histone H3-K9 methylation negative regulation of protein kinase B signaling fatty acid homeostasis negative regulation of androgen receptor signaling pathway histone H3-K9 modification cellular response to hydrogen peroxide NAD+ binding regulation of bile acid biosynthetic process UV-damage excision repair histone H3 deacetylation cellular response to tumor necrosis factor negative regulation of histone H3-K14 acetylation cellular response to hypoxia cellular response to ionizing radiation regulation of protein serine/threonine kinase activity regulation of brown fat cell differentiation stress-induced premature senescence regulation of cellular response to heat negative regulation of histone H3-K9 trimethylation negative regulation of neuron death negative regulation of protein acetylation negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway positive regulation of adipose tissue development keratin filament binding histone H3-K9 deacetylation cellular response to leukemia inhibitory factor positive regulation of macrophage apoptotic process negative regulation of cAMP-dependent protein kinase activity positive regulation of cAMP-dependent protein kinase activity negative regulation of histone H4-K16 acetylation negative regulation of cellular response to testosterone stimulus negative regulation of peptidyl-lysine acetylation negative regulation of cellular senescence positive regulation of cellular senescence ESC/E(Z) complex NAD+ ADP-ribosyltransferase activity protein ADP-ribosylation  uc001jnd.1 uc001jnd.2 uc001jnd.3 uc001jnd.4 
ENST00000212355.9 TGFBR3 ENST00000212355.9 Homo sapiens transforming growth factor beta receptor 3 (TGFBR3), transcript variant 4, non-coding RNA. (from RefSeq NR_036634) A0AUW8 A8K5N0 B9EG88 ENST00000212355.1 ENST00000212355.2 ENST00000212355.3 ENST00000212355.4 ENST00000212355.5 ENST00000212355.6 ENST00000212355.7 ENST00000212355.8 NR_036634 Q03167 Q5T2T4 Q5U731 Q9UGI2 TGBR3_HUMAN uc001doh.1 uc001doh.2 uc001doh.3 uc001doh.4 uc001doh.5 This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]. Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors. Interacts with TCTEX1D4. P01137:TGFB1; NbExp=2; IntAct=EBI-2852679, EBI-779636; Secreted. Secreted, extracellular space. Cell membrane; Single-pass type I membrane protein (Potential). Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q03167-1; Sequence=Displayed; Name=2; IsoId=Q03167-2; Sequence=VSP_040018; Extensively modified by glycosaminoglycan groups (GAG). Contains 1 ZP domain. Sequence=AAA67061.1; Type=Frameshift; Positions=70, 73, 349, 350; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TGFBR3ID42541ch1p33.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfbr3/"; response to hypoxia epithelial to mesenchymal transition liver development heart morphogenesis muscular septum morphogenesis outflow tract morphogenesis ventricular compact myocardium morphogenesis transforming growth factor beta-activated receptor activity type II transforming growth factor beta receptor binding transforming growth factor beta receptor binding protein binding glycosaminoglycan binding extracellular region extracellular space cytoplasm plasma membrane integral component of plasma membrane immune response transforming growth factor beta receptor signaling pathway transforming growth factor beta receptor complex assembly heparin binding external side of plasma membrane cell surface coreceptor activity membrane integral component of membrane cell migration fibroblast growth factor binding PDZ domain binding BMP signaling pathway positive regulation of transforming growth factor beta receptor signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway extracellular matrix animal organ regeneration response to follicle-stimulating hormone inhibin-betaglycan-ActRII complex response to prostaglandin E response to luteinizing hormone intracellular signal transduction receptor complex regulation of protein binding SMAD binding activin binding transforming growth factor beta binding negative regulation of epithelial cell proliferation negative regulation of cellular component movement ventricular cardiac muscle tissue morphogenesis cardiac muscle cell proliferation positive regulation of cardiac muscle cell proliferation definitive hemopoiesis cardiac epithelial to mesenchymal transition definitive erythrocyte differentiation heart trabecula formation pathway-restricted SMAD protein phosphorylation ventricular septum morphogenesis epicardium-derived cardiac fibroblast cell development vasculogenesis involved in coronary vascular morphogenesis heart trabecula morphogenesis macromolecular complex assembly extracellular exosome transforming growth factor beta receptor activity, type III regulation of JNK cascade regulation of ERK1 and ERK2 cascade  uc001doh.1 uc001doh.2 uc001doh.3 uc001doh.4 uc001doh.5 
ENST00000214869.7 TMED1 ENST00000214869.7 Homo sapiens transmembrane p24 trafficking protein 1 (TMED1), transcript variant 1, mRNA. (from RefSeq NM_006858) ENST00000214869.1 ENST00000214869.2 ENST00000214869.3 ENST00000214869.4 ENST00000214869.5 ENST00000214869.6 IL1RL1L IL1RL1LG NM_006858 Q13445 TMED1_HUMAN uc002mpy.1 uc002mpy.2 uc002mpy.3 uc002mpy.4 uc002mpy.5 uc002mpy.6 This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Potential role in vesicular protein trafficking, mainly in the early secretory pathway. May act as a cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and may be involved in vesicle coat formation at the cytoplasmic side. Homodimer in endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment and cis-Golgi network. May interact with IL1RL1. Cell membrane; Single-pass type I membrane protein (Potential). Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi network membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Widely expressed. Found only in very low concentrations in the endoplasmic reticulum, Golgi apparatus and endoplasmic reticulum- Golgi intermediate compartment compared to other members of the EMP24/GP25L family. Belongs to the EMP24/GP25L family. Contains 1 GOLD domain. receptor binding protein binding endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport Golgi organization signal transduction cell-cell signaling protein transport membrane integral component of membrane ER to Golgi transport vesicle endoplasmic reticulum-Golgi intermediate compartment membrane  uc002mpy.1 uc002mpy.2 uc002mpy.3 uc002mpy.4 uc002mpy.5 uc002mpy.6 
ENST00000214893.10 ERMP1 ENST00000214893.10 endoplasmic reticulum metallopeptidase 1 (from HGNC ERMP1) AB058718 ENST00000214893.1 ENST00000214893.2 ENST00000214893.3 ENST00000214893.4 ENST00000214893.5 ENST00000214893.6 ENST00000214893.7 ENST00000214893.8 ENST00000214893.9 uc064saa.1 uc064saa.2  uc064saa.1 uc064saa.2 
ENST00000215057.7 MZF1 ENST00000215057.7 Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA. (from RefSeq NM_198055) ENST00000215057.1 ENST00000215057.2 ENST00000215057.3 ENST00000215057.4 ENST00000215057.5 ENST00000215057.6 MZF MZF1_HUMAN NM_198055 P28698 Q96I71 Q9NRY0 Q9UBW2 ZNF42 ZSCAN6 uc002qto.1 uc002qto.2 uc002qto.3 uc002qto.4 uc002qto.5 Binds to target promoter DNA and functions as trancription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development. Homodimer. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=MZF1A; Synonyms=MZF1B; IsoId=P28698-1; Sequence=Displayed; Name=MZF1B-C; IsoId=P28698-2; Sequence=VSP_006889, VSP_006890; Preferentially expressed in differentiating myeloid cells. Detected in osteoblasts. By retinoic acid. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers. Contains 1 SCAN box domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated protein homodimerization activity transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter metal ion binding  uc002qto.1 uc002qto.2 uc002qto.3 uc002qto.4 uc002qto.5 
ENST00000215061.9 OCEL1 ENST00000215061.9 Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA. (from RefSeq NM_024578) ENST00000215061.1 ENST00000215061.2 ENST00000215061.3 ENST00000215061.4 ENST00000215061.5 ENST00000215061.6 ENST00000215061.7 ENST00000215061.8 NM_024578 OCEL1_HUMAN Q9H607 uc002nfp.1 uc002nfp.2 uc002nfp.3 uc002nfp.4 uc002nfp.5 Belongs to the ELL/occludin family.  uc002nfp.1 uc002nfp.2 uc002nfp.3 uc002nfp.4 uc002nfp.5 
ENST00000215071.9 PSMD8 ENST00000215071.9 Homo sapiens proteasome 26S subunit, non-ATPase 8 (PSMD8), mRNA. (from RefSeq NM_002812) ENST00000215071.1 ENST00000215071.2 ENST00000215071.3 ENST00000215071.4 ENST00000215071.5 ENST00000215071.6 ENST00000215071.7 ENST00000215071.8 NM_002812 V9HW09 uc002oii.1 uc002oii.2 uc002oii.3 uc002oii.4 uc002oii.5 uc002oii.6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU668354.1, BC001164.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc002oii.1 uc002oii.2 uc002oii.3 uc002oii.4 uc002oii.5 uc002oii.6 
ENST00000215095.11 STX1B ENST00000215095.11 Homo sapiens syntaxin 1B (STX1B), mRNA. (from RefSeq NM_052874) ENST00000215095.1 ENST00000215095.10 ENST00000215095.2 ENST00000215095.3 ENST00000215095.4 ENST00000215095.5 ENST00000215095.6 ENST00000215095.7 ENST00000215095.8 ENST00000215095.9 NM_052874 P61266 Q15531 STX1B1 STX1B2 STX1B_HUMAN uc010cad.1 uc010cad.2 uc010cad.3 uc010cad.4 uc010cad.5 The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY028792.1, SRR3476690.311163.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215095.11/ ENSP00000215095.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity). Interacts with OTOF. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity). Membrane; Single-pass type IV membrane protein (Potential). Phosphorylated by CK2 (By similarity). Belongs to the syntaxin family. Contains 1 t-SNARE coiled-coil homology domain. SNARE binding positive regulation of neurotransmitter secretion receptor binding SNAP receptor activity nucleus nuclear lamina nucleoplasm cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton plasma membrane neurotransmitter transport intracellular protein transport exocytosis vesicle docking involved in exocytosis vesicle fusion regulation of gene expression regulation of synaptic vesicle priming negative regulation of neuron projection development endomembrane system protein transport membrane integral component of membrane synaptic vesicle exocytosis synaptic vesicle docking vesicle-mediated transport regulation of exocytosis protein kinase binding protein domain specific binding axon SNARE complex neuromuscular junction synaptic vesicle fusion to presynaptic active zone membrane presynaptic membrane vesicle docking presynaptic active zone membrane calcium ion-regulated exocytosis of neurotransmitter regulation of synaptic activity spontaneous neurotransmitter secretion protein localization to membrane presynapse exocytic insertion of neurotransmitter receptor to postsynaptic membrane negative regulation of synaptic vesicle recycling positive regulation of spontaneous neurotransmitter secretion negative regulation of macropinocytosis positive regulation of excitatory postsynaptic potential  uc010cad.1 uc010cad.2 uc010cad.3 uc010cad.4 uc010cad.5 
ENST00000215115.5 BCL7C ENST00000215115.5 Homo sapiens BAF chromatin remodeling complex subunit BCL7C (BCL7C), transcript variant 2, mRNA. (from RefSeq NM_004765) BCL7C_HUMAN ENST00000215115.1 ENST00000215115.2 ENST00000215115.3 ENST00000215115.4 NM_004765 O43770 Q6PD89 Q8WUZ0 uc002dzv.1 uc002dzv.2 uc002dzv.3 uc002dzv.4 uc002dzv.5 uc002dzv.6 This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. May play an anti-apoptotic role (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUZ0-1; Sequence=Displayed; Name=2; IsoId=Q8WUZ0-2; Sequence=VSP_019282; Ubiquitous. Belongs to the BCL7 family. apoptotic process  uc002dzv.1 uc002dzv.2 uc002dzv.3 uc002dzv.4 uc002dzv.5 uc002dzv.6 
ENST00000215368.4 EFNA2 ENST00000215368.4 Homo sapiens ephrin A2 (EFNA2), mRNA. (from RefSeq NM_001405) EFNA2_HUMAN ENST00000215368.1 ENST00000215368.2 ENST00000215368.3 EPLG6 LERK6 NM_001405 O43921 O76020 uc002lry.1 uc002lry.2 uc002lry.3 uc002lry.4 This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ007292.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215368.4/ ENSP00000215368.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (By similarity). Binds to the receptor tyrosine kinases EPHA3, EPHA4 and EPHA5. Interacts with EPHA8; activates EPHA8. Cell membrane; Lipid-anchor, GPI-anchor (Potential). Belongs to the ephrin family. Contains 1 ephrin RBD (ephrin receptor-binding) domain. protein binding plasma membrane cell-cell signaling axon guidance membrane olfactory bulb development osteoclast differentiation anchored component of membrane neuromuscular junction perikaryon bone remodeling ephrin receptor binding ephrin receptor signaling pathway  uc002lry.1 uc002lry.2 uc002lry.3 uc002lry.4 
ENST00000215375.7 ATP5F1D ENST00000215375.7 Homo sapiens ATP synthase F1 subunit delta (ATP5F1D), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001687) ATP5D ATPD_HUMAN D6W5Y3 ENST00000215375.1 ENST00000215375.2 ENST00000215375.3 ENST00000215375.4 ENST00000215375.5 ENST00000215375.6 NM_001687 P30049 Q6FG90 uc002lro.1 uc002lro.2 uc002lro.3 uc002lro.4 uc002lro.5 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]. Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). Mitochondrion. Mitochondrion inner membrane. Belongs to the ATPase epsilon chain family. mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) protein binding mitochondrion mitochondrial inner membrane mitochondrial proton-transporting ATP synthase complex mitochondrial matrix oxidative phosphorylation ATP biosynthetic process ion transport aerobic respiration ATP synthesis coupled proton transport membrane ATPase activity transmembrane transporter activity mitochondrial proton-transporting ATP synthase complex assembly cristae formation mitochondrial ATP synthesis coupled proton transport proton-transporting ATP synthase complex, catalytic core F(1) response to copper ion proton-transporting ATP synthase activity, rotational mechanism ATP binding ADP binding  uc002lro.1 uc002lro.2 uc002lro.3 uc002lro.4 uc002lro.5 
ENST00000215376.7 CBARP ENST00000215376.7 CACN beta subunit associated regulatory protein (from HGNC CBARP) BC028156 ENST00000215376.1 ENST00000215376.2 ENST00000215376.3 ENST00000215376.4 ENST00000215376.5 ENST00000215376.6 uc060qws.1 uc060qws.2  uc060qws.1 uc060qws.2 
ENST00000215473.7 PCDH11Y ENST00000215473.7 Potential calcium-dependent cell-adhesion protein. (from UniProt Q9BZA8) AF332216 ENST00000215473.1 ENST00000215473.2 ENST00000215473.3 ENST00000215473.4 ENST00000215473.5 ENST00000215473.6 PC11Y_HUMAN PCDH11 PCDH22 PCDHY Q70LR6 Q70LR8 Q70LS0 Q70LS1 Q70LS2 Q70LS3 Q70LS4 Q70LS5 Q8WY34 Q9BZA8 Q9BZA9 Q9H4E1 uc004fqp.1 uc004fqp.2 Potential calcium-dependent cell-adhesion protein. Interacts with CTNNB1. Cell membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q9BZA8-1; Sequence=Displayed; Name=2; IsoId=Q9BZA8-2; Sequence=VSP_017998, VSP_017999; Name=3; IsoId=Q9BZA8-3; Sequence=VSP_017996, VSP_017998, VSP_017999; Name=4; IsoId=Q9BZA8-4; Sequence=VSP_017997, VSP_018000; Expressed strongly in fetal brain and brain (cortex, amygdala, thalamus, substantia nigra, hippocampus, caudate nucleus and corpus callosum). Expressed at low level in testis. Expressed in apoptosis-resistant cells. Note=A chromosomal aberration involving PCDH11Y is a cause of multiple congenital abnormalities, including severe bilateral vesicoureteral reflux (VUR) with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with ROBO2. Contains 7 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules spermatogenesis membrane integral component of membrane positive regulation of Wnt signaling pathway sperm midpiece  uc004fqp.1 uc004fqp.2 
ENST00000215530.7 FGF22 ENST00000215530.7 Homo sapiens fibroblast growth factor 22 (FGF22), transcript variant 1, mRNA. (from RefSeq NM_020637) B2RPH4 ENST00000215530.1 ENST00000215530.2 ENST00000215530.3 ENST00000215530.4 ENST00000215530.5 ENST00000215530.6 FGF22_HUMAN NM_020637 Q9HCT0 UNQ2500/PRO5800 uc010xfq.1 uc010xfq.2 uc010xfq.3 uc010xfq.4 uc010xfq.5 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The mouse homolog of this gene was found to be preferentially expressed in the inner root sheath of the hair follicle, which suggested a role in hair development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development. Interacts with FGFR1 and FGFR2. Interacts with FGFBP1. Secreted (Potential). Belongs to the heparin-binding growth factors family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf22/"; MAPK cascade fibroblast growth factor receptor binding extracellular region extracellular space nucleolus Golgi apparatus growth factor activity fibroblast growth factor receptor signaling pathway cell surface cell differentiation positive regulation of protein kinase B signaling  uc010xfq.1 uc010xfq.2 uc010xfq.3 uc010xfq.4 uc010xfq.5 
ENST00000215531.6 SMIM24 ENST00000215531.6 Homo sapiens small integral membrane protein 24 (SMIM24), mRNA. (from RefSeq NM_001136503) B9EJF4 C19orf77 CS077_HUMAN ENST00000215531.1 ENST00000215531.2 ENST00000215531.3 ENST00000215531.4 ENST00000215531.5 HSPC323 NM_001136503 O75264 Q9P059 uc010xhk.1 uc010xhk.2 uc010xhk.3 Membrane; Single-pass membrane protein (Potential). Sequence=AAC33194.1; Type=Erroneous gene model prediction; Note=Wrong choice of frame and superfluous exons were predicted; Sequence=AAF29001.1; Type=Frameshift; Positions=111; Sequence=EAW69320.1; Type=Erroneous gene model prediction; Note=Wrong choice of frame and superfluous exons were predicted; molecular_function biological_process membrane integral component of membrane  uc010xhk.1 uc010xhk.2 uc010xhk.3 
ENST00000215539.4 IGFALS ENST00000215539.4 Homo sapiens insulin like growth factor binding protein acid labile subunit (IGFALS), transcript variant 2, mRNA. (from RefSeq NM_004970) ALS ALS_HUMAN ENST00000215539.1 ENST00000215539.2 ENST00000215539.3 NM_004970 P35858 uc002cmy.1 uc002cmy.2 uc002cmy.3 uc002cmy.4 uc002cmy.5 The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion. Forms a ternary complex of about 140 to 150 kDa with IGF- I or IGF-II and IGFBP-3. Secreted, extracellular space. Plasma. Contains 19 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. insulin-like growth factor binding extracellular region extracellular space nucleoplasm cell adhesion signal transduction extracellular matrix insulin-like growth factor ternary complex cellular protein metabolic process extracellular exosome  uc002cmy.1 uc002cmy.2 uc002cmy.3 uc002cmy.4 uc002cmy.5 
ENST00000215555.7 MARCHF2 ENST00000215555.7 Homo sapiens membrane associated ring-CH-type finger 2 (MARCHF2), transcript variant 8, non-coding RNA. (from RefSeq NR_163145) A6NP10 ENST00000215555.1 ENST00000215555.2 ENST00000215555.3 ENST00000215555.4 ENST00000215555.5 ENST00000215555.6 HSPC240 MARCH2 MARH2_HUMAN NR_163145 Q5H785 Q8N5A3 Q96B78 Q9P0N8 RNF172 uc002mjw.1 uc002mjw.2 uc002mjw.3 uc002mjw.4 uc002mjw.5 MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.487821.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## E3 ubiquitin-protein ligase that may mediate ubiquitination of TFRC and CD86, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin- conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May be involved in endosomal trafficking through interaction with STX6. Protein modification; protein ubiquitination. Interacts with STX6 (By similarity). Interacts with MARCH3. Endoplasmic reticulum membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P0N8-1; Sequence=Displayed; Name=2; IsoId=Q9P0N8-2; Sequence=VSP_041478; Note=No experimental confirmation available; Broadly expressed. The RING-CH-type zinc finger domain is required for E3 ligase activity. Contains 1 RING-CH-type zinc finger. ubiquitin-protein transferase activity protein binding lysosome lysosomal membrane endosome endoplasmic reticulum endoplasmic reticulum membrane endocytosis zinc ion binding endosome membrane membrane integral component of membrane protein ubiquitination transferase activity cytoplasmic vesicle metal ion binding  uc002mjw.1 uc002mjw.2 uc002mjw.3 uc002mjw.4 uc002mjw.5 
ENST00000215565.3 NDUFB7 ENST00000215565.3 Homo sapiens NADH:ubiquinone oxidoreductase subunit B7 (NDUFB7), mRNA. (from RefSeq NM_004146) ENST00000215565.1 ENST00000215565.2 NDUB7_HUMAN NM_004146 P17568 Q6ICN9 Q9UI16 uc002mzg.1 uc002mzg.2 uc002mzg.3 uc002mzg.4 uc002mzg.5 The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.221643.1, SRR1163658.407215.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000215565.3/ ENSP00000215565.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein (Probable). Mitochondrion intermembrane space. Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds. Belongs to the complex I NDUFB7 subunit family. Sequence=AAA35675.1; Type=Frameshift; Positions=Several; NADH dehydrogenase activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial intermembrane space mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain  uc002mzg.1 uc002mzg.2 uc002mzg.3 uc002mzg.4 uc002mzg.5 
ENST00000215567.10 TECR ENST00000215567.10 Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA. (from RefSeq NM_138501) B2RD55 ENST00000215567.1 ENST00000215567.2 ENST00000215567.3 ENST00000215567.4 ENST00000215567.5 ENST00000215567.6 ENST00000215567.7 ENST00000215567.8 ENST00000215567.9 GPSN2 NM_138501 O75350 Q6IBB2 Q9BWK3 Q9NZ01 Q9Y6P0 SC2 TECR_HUMAN uc002mza.1 uc002mza.2 uc002mza.3 uc002mza.4 uc002mza.5 This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]. Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids. A very-long-chain acyl-CoA + NADP(+) = a very- long-chain trans-2,3-dehydroacyl-CoA + NADPH. Interacts with ELOVL1 and LASS2. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZ01-1; Sequence=Displayed; Name=2; IsoId=Q9NZ01-2; Sequence=VSP_005957; Expressed in most tissues tested. Highly expressed in skeletal muscle. Defects in TECR are the cause of mental retardation autosomal recessive type 14 (MRT14) [MIM:614020]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Belongs to the steroid 5-alpha reductase family. protein binding nucleus endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process sphingolipid metabolic process membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors integral component of endoplasmic reticulum membrane fatty acid elongation long-chain fatty-acyl-CoA biosynthetic process very long-chain fatty acid biosynthetic process oxidation-reduction process  uc002mza.1 uc002mza.2 uc002mza.3 uc002mza.4 uc002mza.5 
ENST00000215570.8 TIMM13 ENST00000215570.8 Homo sapiens translocase of inner mitochondrial membrane 13 (TIMM13), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012458) ENST00000215570.1 ENST00000215570.2 ENST00000215570.3 ENST00000215570.4 ENST00000215570.5 ENST00000215570.6 ENST00000215570.7 NM_012458 P62206 Q9UHL8 Q9WTL1 Q9Y5L4 TIM13B TIM13_HUMAN TIMM13A TIMM13B uc002lvx.1 uc002lvx.2 uc002lvx.3 uc002lvx.4 This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.773314.1, SRR3476690.880947.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2163105 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000215570.8/ ENSP00000215570.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Heterohexamer; composed of 3 copies of TIMM8 (TIMM8A or TIMM8B) and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22. Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Ubiquitous, with highest expression in heart, kidney, liver and skeletal muscle. The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM13 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity). Belongs to the small Tim family. fibrillar center mitochondrion mitochondrial inner membrane mitochondrial intermembrane space protein targeting to mitochondrion sensory perception of sound zinc ion binding protein transport membrane mitochondrial intermembrane space protein transporter complex protein import into mitochondrial inner membrane metal ion binding chaperone-mediated protein transport  uc002lvx.1 uc002lvx.2 uc002lvx.3 uc002lvx.4 
ENST00000215574.9 CDC34 ENST00000215574.9 Homo sapiens cell division cycle 34, ubiqiutin conjugating enzyme (CDC34), mRNA. (from RefSeq NM_004359) A8K689 ENST00000215574.1 ENST00000215574.2 ENST00000215574.3 ENST00000215574.4 ENST00000215574.5 ENST00000215574.6 ENST00000215574.7 ENST00000215574.8 NM_004359 P49427 UB2R1_HUMAN UBCH3 UBE2R1 uc002lov.1 uc002lov.2 uc002lov.3 uc002lov.4 uc002lov.5 uc002lov.6 The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009850.2, SRR1163655.656271.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215574.9/ ENSP00000215574.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys- 48'-linked polyubiquitination. Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Cooperates with the SCF(SKP2) E3 ligase complex to regulate cell proliferation through ubiquitination and degradation of MYBL2 and KIP1. Involved in ubiquitin conjugation and degradation of CREM isoform ICERIIgamma and ATF15 resulting in abrogation of ICERIIgamma- and ATF5- mediated repression of cAMP-induced transcription during both meiotic and mitotic cell cycles. Involved in the regulation of the cell cycle G2/M phase through its targeting of the WEE1 kinase for ubiquitination and degradation. Also involved in the degradation of beta-catenin. Is target of human herpes virus 1 protein ICP0, leading to ICP0-dependent dynamic interaction with proteasomes. ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. CDC34-catalyzed polyubiquitin chain assembly activity is stimulated by the conjugation of NEDD8 to the CUL1 SCF E3 ligase complex subunit. Kinetic parameters: KM=0.11 uM for beta-catenin-monoubiquin; Protein modification; protein ubiquitination. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. When cullin is neddylated, the interaction between the E2 and the SCF complex is strengthened. When phosphorylated, interacts with beta-TrCP (BTRC). Interacts with human herpes virus 1 protein ICP0 and associates with the proteasome for degradation. Interacts with casein kinase subunit CSNK2B. Q13616:CUL1; NbExp=3; IntAct=EBI-975634, EBI-359390; Cytoplasm. Nucleus. Note=The phosphorylation of the C-terminal tail plays an important role in mediating nuclear localization. Colocalizes with beta-tubulin on mitotic spindles in anaphase. Expressed in testes during spermatogenesis to regulate repression of cAMP-induced transcription. Negatively regulated by the let-7 microRNA. The C-terminal acidic tail is required for nuclear localization and is involved in the binding to SCF E3 ligase complexes, and more specifically with the CUL1 subunit. Autoubiquitinated. Autoubiquitination is promoted by the human herpes virus 1 protein ICP0 and leads to degradation by the Ubiquitin-proteasomal pathway. Phosphorylated by CK2. Phosphorylation of the C-terminal tail by CK2 controles the nuclear localization. Belongs to the ubiquitin-conjugating enzyme family. Sequence=AAC37534.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc34/"; G1/S transition of mitotic cell cycle nucleotide binding protein polyubiquitination ubiquitin-protein transferase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol DNA replication initiation cellular protein modification process cell cycle protein ubiquitination nuclear speck transferase activity cellular response to interferon-beta proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of neuron apoptotic process negative regulation of cAMP-mediated signaling ubiquitin conjugating enzyme activity response to growth factor protein K48-linked ubiquitination positive regulation of inclusion body assembly  uc002lov.1 uc002lov.2 uc002lov.3 uc002lov.4 uc002lov.5 uc002lov.6 
ENST00000215582.8 MISP ENST00000215582.8 Homo sapiens mitotic spindle positioning (MISP), transcript variant 2, non-coding RNA. (from RefSeq NR_135168) C19orf21 CS021_HUMAN ENST00000215582.1 ENST00000215582.2 ENST00000215582.3 ENST00000215582.4 ENST00000215582.5 ENST00000215582.6 ENST00000215582.7 NR_135168 Q8IVT2 uc002lpo.1 uc002lpo.2 uc002lpo.3 uc002lpo.4 uc002lpo.5 uc002lpo.6 The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]. establishment of mitotic spindle orientation actin binding protein binding cytoplasm cytoskeleton plasma membrane focal adhesion cell cortex cell cycle cell migration cell junction spindle pole centrosome intracellular membrane-bounded organelle actin filament binding cell division organelle localization establishment of centrosome localization mitotic spindle assembly regulation of protein localization to cell cortex actin filament adherens junction cortical actin cytoskeleton mitotic spindle astral microtubule end  uc002lpo.1 uc002lpo.2 uc002lpo.3 uc002lpo.4 uc002lpo.5 uc002lpo.6 
ENST00000215587.11 POLR2E ENST00000215587.11 RNA polymerase II subunit E (from HGNC POLR2E) A0A0A0MQR7 AK122813 ENST00000215587.1 ENST00000215587.10 ENST00000215587.2 ENST00000215587.3 ENST00000215587.4 ENST00000215587.5 ENST00000215587.6 ENST00000215587.7 ENST00000215587.8 ENST00000215587.9 uc060qvf.1  uc060qvf.1 
ENST00000215631.9 GADD45B ENST00000215631.9 Homo sapiens growth arrest and DNA damage inducible beta (GADD45B), mRNA. (from RefSeq NM_015675) A8KAM2 ENST00000215631.1 ENST00000215631.2 ENST00000215631.3 ENST00000215631.4 ENST00000215631.5 ENST00000215631.6 ENST00000215631.7 ENST00000215631.8 GA45B_HUMAN MYD118 NM_015675 O75293 O75960 Q17R46 uc002lwb.1 uc002lwb.2 uc002lwb.3 uc002lwb.4 This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.236157.1, SRR3476690.397772.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215631.9/ ENSP00000215631.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK. Interacts with GADD45GIP1. Belongs to the GADD45 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gadd45b/"; Name=Wikipedia; Note=GADD45B entry; URL="http://en.wikipedia.org/wiki/GADD45B"; activation of MAPKKK activity activation of MAPKK activity protein binding nucleus cytoplasm negative regulation of protein kinase activity apoptotic process multicellular organism development cell differentiation positive regulation of apoptotic process positive regulation of JNK cascade regulation of cell cycle positive regulation of p38MAPK cascade  uc002lwb.1 uc002lwb.2 uc002lwb.3 uc002lwb.4 
ENST00000215637.8 MADCAM1 ENST00000215637.8 Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA. (from RefSeq NM_130760) A5PKV4 B2RPL9 ENST00000215637.1 ENST00000215637.2 ENST00000215637.3 ENST00000215637.4 ENST00000215637.5 ENST00000215637.6 ENST00000215637.7 MADCA_HUMAN NM_130760 O60222 O75867 Q13477 uc002los.1 uc002los.2 uc002los.3 uc002los.4 uc002los.5 uc002los.6 The protein encoded by this gene is an endothelial cell adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid cells to direct leukocytes into mucosal and inflamed tissues. It is a member of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoforms have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. Cell adhesion leukocyte receptor expressed by mucosal venules, helps to direct lymphocyte traffic into mucosal tissues including the Peyer patches and the intestinal lamina propria. It can bind both integrin alpha-4/beta-7 and L-selectin, regulating both the passage and retention of leukocytes. Isoform 2, lacking the mucin-like domain, may be specialized in supporting integrin alpha-4/beta-7-dependent adhesion strengthening, independent of L- selectin binding. Homodimer (Probable). Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q13477-1; Sequence=Displayed; Name=2; IsoId=Q13477-2; Sequence=VSP_050014; Name=3; IsoId=Q13477-3; Sequence=VSP_043202; Note=No experimental confirmation available; Highly expressed on high endothelial venules (HEV) and lamina propia venules found in the small intestine, and to a lesser extent in the colon and spleen. Very low levels of expression found in pancreas and brain. Not expressed in the thymus, prostate, ovaries, testis, heart, placenta, lung, liver, skeletal muscle, kidney or peripheral blood leukocytes. The Ser/Thr-rich mucin-like domain may provide possible sites for O-glycosylation (By similarity). The number of repeats in the mucin domain varies between 5 and 8 repeats. Contains 2 Ig-like (immunoglobulin-like) domains. positive regulation of leukocyte migration plasma membrane immune response cell adhesion cell-matrix adhesion signal transduction integrin-mediated signaling pathway membrane integral component of membrane extracellular matrix organization heterotypic cell-cell adhesion receptor clustering regulation of immune response leukocyte tethering or rolling integrin binding involved in cell-matrix adhesion positive regulation of lymphocyte migration  uc002los.1 uc002los.2 uc002los.3 uc002los.4 uc002los.5 uc002los.6 
ENST00000215659.13 MAPK12 ENST00000215659.13 Homo sapiens mitogen-activated protein kinase 12 (MAPK12), transcript variant 1, mRNA. (from RefSeq NM_002969) ENST00000215659.1 ENST00000215659.10 ENST00000215659.11 ENST00000215659.12 ENST00000215659.2 ENST00000215659.3 ENST00000215659.4 ENST00000215659.5 ENST00000215659.6 ENST00000215659.7 ENST00000215659.8 ENST00000215659.9 ERK6 MK12_HUMAN NM_002969 P53778 Q14260 Q99588 Q99672 SAPK3 uc003bkm.1 uc003bkm.2 uc003bkm.3 Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]. Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK12 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in myoblast differentiation and also in the down-regulation of cyclin D1 in response to hypoxia in adrenal cells suggesting MAPK12 may inhibit cell proliferation while promoting differentiation. Phosphorylates DLG1. Following osmotic shock, MAPK12 in the cell nucleus increases its association with nuclear DLG1, thereby causing dissociation of DLG1-SFPQ complexes. This function is independent of its catalytic activity and could affect mRNA processing and/or gene transcription to aid cell adaptation to osmolarity changes in the environment. Regulates UV-induced checkpoint signaling and repair of UV-induced DNA damage and G2 arrest after gamma- radiation exposure. MAPK12 is involved in the regulation of SLC2A1 expression and basal glucose uptake in L6 myotubes; and negatively regulates SLC2A4 expression and contraction-mediated glucose uptake in adult skeletal muscle. C-Jun (JUN) phosphorylation is stimulated by MAPK14 and inhibited by MAPK12, leading to a distinct AP-1 regulation. MAPK12 is required for the normal kinetochore localization of PLK1, prevents chromosomal instability and supports mitotic cell viability. MAPK12-signaling is also positively regulating the expansion of transient amplifying myogenic precursor cells during muscle growth and regeneration. ATP + a protein = ADP + a phosphoprotein. Binds 2 magnesium ions. Activated by phosphorylation on threonine and tyrosine. MAP2K3/MKK3 and MAP2K6/MKK6 are both essential for the activation of MAPK12 induced by environmental stress, whereas MAP2K6/MKK6 is the major MAPK12 activator in response to TNF- alpha. Kinetic parameters: KM=37 uM for ATP; KM=313 uM for EGFR substrate peptide; KM=254 uM for GST-ATF2; Monomer. Interacts with the PDZ domain of the syntrophin SNTA1. Interacts with SH3BP5. Interacts with LIN7C, SCRIB and SYNJ2BP (By similarity). Q16512:PKN1; NbExp=2; IntAct=EBI-602406, EBI-602382; Cytoplasm. Nucleus. Mitochondrion. Note=Mitochondrial when associated with SH3BP5. In skeletal muscle co-localizes with SNTA1 at the neuromuscular junction and throughout the sarcolemma (By similarity). Highly expressed in skeletal muscle and heart. Expression of MAPK12 is down-regulation by MAPK14 activation. The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases. Dually phosphorylated on Thr-183 and Tyr-185 by MAP2K3/MKK3 and MAP2K6/MKK6, which activates the enzyme. Ubiquitinated. Ubiquitination leads to degradation by the proteasome pathway. Note=MAPK is overexpressed in highly metastatic breast cancer cell lines and its expression is preferentially associated with basal-like and metastatic phenotypes of breast tumor samples. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. MAPK cascade nucleotide binding magnesium ion binding protein kinase activity protein serine/threonine kinase activity MAP kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion cytosol protein phosphorylation DNA damage induced protein phosphorylation cell cycle cell cycle arrest signal transduction muscle organ development regulation of gene expression positive regulation of peptidase activity kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation intracellular signal transduction myoblast differentiation negative regulation of cell cycle metal ion binding positive regulation of muscle cell differentiation  uc003bkm.1 uc003bkm.2 uc003bkm.3 
ENST00000215727.10 SERPIND1 ENST00000215727.10 Homo sapiens serpin family D member 1 (SERPIND1), mRNA. (from RefSeq NM_000185) B2RAI1 D3DX34 ENST00000215727.1 ENST00000215727.2 ENST00000215727.3 ENST00000215727.4 ENST00000215727.5 ENST00000215727.6 ENST00000215727.7 ENST00000215727.8 ENST00000215727.9 HCF2 HEP2_HUMAN NM_000185 P05546 Q6IBZ5 uc002ztb.1 uc002ztb.2 uc002ztb.3 This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035028.2, SRR1803613.60943.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215727.10/ ENSP00000215727.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner. Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils. Expressed predominantly in liver. Also present in plasma. The N-terminal acidic repeat region mediates, in part, the glycosaminoglycan-accelerated thrombin inhibition. Phosphorylation sites are present in the extracellular medium. Defects in SERPIND1 are the cause of thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]. A hemostatic disorder characterized by a tendency to recurrent thrombosis. Belongs to the serpin family. Sequence=CAG30459.1; Type=Erroneous initiation; endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity extracellular region extracellular space endoplasmic reticulum lumen chemotaxis blood coagulation hemostasis heparin binding negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity post-translational protein modification cellular protein metabolic process extracellular exosome  uc002ztb.1 uc002ztb.2 uc002ztb.3 
ENST00000215730.12 SNAP29 ENST00000215730.12 Homo sapiens synaptosome associated protein 29 (SNAP29), mRNA. (from RefSeq NM_004782) ENST00000215730.1 ENST00000215730.10 ENST00000215730.11 ENST00000215730.2 ENST00000215730.3 ENST00000215730.4 ENST00000215730.5 ENST00000215730.6 ENST00000215730.7 ENST00000215730.8 ENST00000215730.9 NM_004782 O95721 SNP29_HUMAN uc011ahw.1 uc011ahw.2 uc011ahw.3 uc011ahw.4 This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.113951.1, SRR1660809.243742.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215730.12/ ENSP00000215730.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in multiple membrane trafficking steps. Binds tightly to multiple syntaxins. Cytoplasm. Membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Note=Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic. Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas. Defects in SNAP29 are the cause of CEDNIK syndrome (CEDNIK) [MIM:609528]. CEDNIK is a neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma. Belongs to the SNAP-25 family. Contains 1 t-SNARE coiled-coil homology domain. Golgi membrane autophagosome membrane SNAP receptor activity protein binding nucleoplasm cytoplasm autophagosome Golgi apparatus centrosome cytosol plasma membrane cilium exocytosis vesicle targeting vesicle fusion autophagy protein transport membrane synaptic vesicle priming autophagosome docking syntaxin binding ciliary pocket membrane cell projection organization SNARE complex cytoplasmic vesicle synaptic vesicle fusion to presynaptic active zone membrane azurophil granule membrane cell projection neutrophil degranulation ciliary membrane cilium assembly membrane fusion autophagosome maturation presynapse  uc011ahw.1 uc011ahw.2 uc011ahw.3 uc011ahw.4 
ENST00000215742.9 THAP7 ENST00000215742.9 Homo sapiens THAP domain containing 7 (THAP7), transcript variant 1, mRNA. (from RefSeq NM_030573) B2RD97 D3DX40 ENST00000215742.1 ENST00000215742.2 ENST00000215742.3 ENST00000215742.4 ENST00000215742.5 ENST00000215742.6 ENST00000215742.7 ENST00000215742.8 NM_030573 Q9BT49 THAP7_HUMAN uc002zts.1 uc002zts.2 uc002zts.3 Chromatin-associated, histone tail-binding protein that represses transcription via recruitment of HDAC3 and nuclear hormone receptor corepressors. Interacts with HDAC3 and nuclear hormone receptor corepressors. Nucleus. Chromosome. Contains 1 THAP-type zinc finger. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding protein binding nucleus chromosome regulation of transcription from RNA polymerase II promoter nuclear speck nuclear membrane identical protein binding intracellular membrane-bounded organelle negative regulation of transcription, DNA-templated metal ion binding protein N-terminus binding C2H2 zinc finger domain binding  uc002zts.1 uc002zts.2 uc002zts.3 
ENST00000215743.8 MMP11 ENST00000215743.8 Homo sapiens matrix metallopeptidase 11 (MMP11), transcript variant 1, mRNA. (from RefSeq NM_005940) ENST00000215743.1 ENST00000215743.2 ENST00000215743.3 ENST00000215743.4 ENST00000215743.5 ENST00000215743.6 ENST00000215743.7 MMP11_HUMAN NM_005940 P24347 Q5FX24 Q6PEZ6 Q9UC26 STMY3 uc002zxx.1 uc002zxx.2 uc002zxx.3 uc002zxx.4 uc002zxx.5 Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]. May play an important role in the progression of epithelial malignancies. Binds 1 calcium ion per subunit (By similarity). Binds 2 zinc ions per subunit (By similarity). Secreted, extracellular space, extracellular matrix (Probable). Specifically expressed in stromal cells of breast carcinomas. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. The precursor is cleaved by a furin endopeptidase (By similarity). Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ST3ID200.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp11/"; metalloendopeptidase activity extracellular region extracellular space Golgi lumen proteolysis multicellular organism development peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly extracellular matrix organization collagen fibril organization collagen catabolic process extracellular matrix negative regulation of fat cell differentiation metal ion binding basement membrane organization  uc002zxx.1 uc002zxx.2 uc002zxx.3 uc002zxx.4 uc002zxx.5 
ENST00000215754.8 MIF ENST00000215754.8 Homo sapiens macrophage migration inhibitory factor (MIF), mRNA. (from RefSeq NM_002415) A5Z1R8 B2R4S3 ENST00000215754.1 ENST00000215754.2 ENST00000215754.3 ENST00000215754.4 ENST00000215754.5 ENST00000215754.6 ENST00000215754.7 GLIF MIF_HUMAN MMIF NM_002415 P14174 Q2V4Y5 Q6FHV0 uc002zyr.1 uc002zyr.2 uc002zyr.3 This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP204676.1, BP317237.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215754.8/ ENSP00000215754.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Pro-inflammatory cytokine. Involved in the innate immune response to bacterial pathogens. The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense. Counteracts the anti- inflammatory activity of glucocorticoids. Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known. It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity. Keto-phenylpyruvate = enol-phenylpyruvate. L-dopachrome = 5,6-dihydroxyindole-2- carboxylate. Kinetic parameters: KM=249 uM for phenylpyruvate; KM=168 uM for p-hydroxyphenylpyruvate; Vmax=2113 umol/min/mg enzyme toward phenylpyruvate; Vmax=524 umol/min/mg enzyme toward p-hydroxyphenylpyruvate; Homotrimer. Interacts with CXCR2 extracellular domain (By similarity). Interacts with the CD74 extracellular domain, COPS5 and BNIPL. O43521-2:BCL2L11; NbExp=5; IntAct=EBI-372712, EBI-526420; Secreted. Cytoplasm. Note=Does not have a cleavable signal sequence and is secreted via a specialized, non- classical pathway. Secreted by macrophages upon stimulation by bacterial lipopolysaccharide (LPS), or by M.tuberculosis antigens. Up-regulated in concanavalin-A-treated lymphocytes. Up- regulated in macrophages upon exposure to M.tuberculosis antigens. Genetic variations in MIF are associated with susceptibility to rheumatoid arthritis systemic juvenile (RASJ) [MIM:604302]. An inflammatory articular disorder with systemic- onset beginning before the age of 16. It represents a subgroup of juvenile arthritis associated with severe extraarticular features and occasionally fatal complications. During active phases of the disorder, patients display a typical daily spiking fever, an evanescent macular rash, lymphadenopathy, hepatosplenomegaly, serositis, myalgia and arthritis. Serum levels of MIF are elevated in patients with severe sepsis or septic shock. High levels of MIF are correlated with low survival. Drugs that inhibit tautomerase activity protect against death due to sepsis. Belongs to the MIF family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mif/"; prostaglandin biosynthetic process positive regulation of protein phosphorylation protease binding immune system process negative regulation of mature B cell apoptotic process dopachrome isomerase activity receptor binding cytokine activity cytokine receptor binding protein binding extracellular region extracellular space nucleoplasm cytoplasm cytosol plasma membrane inflammatory response cell surface receptor signaling pathway cell aging cell proliferation cell surface negative regulation of gene expression positive regulation of protein kinase A signaling negative regulation of macrophage chemotaxis isomerase activity carboxylic acid metabolic process DNA damage response, signal transduction by p53 class mediator negative regulation of cell migration positive regulation of B cell proliferation positive regulation of lipopolysaccharide-mediated signaling pathway vesicle negative regulation of cellular protein metabolic process positive regulation of tumor necrosis factor production negative regulation of myeloid cell apoptotic process positive regulation of peptidyl-serine phosphorylation secretory granule lumen interleukin-12-mediated signaling pathway chemoattractant activity regulation of cell proliferation positive regulation of phosphorylation identical protein binding regulation of macrophage activation negative regulation of apoptotic process neutrophil degranulation positive regulation of MAP kinase activity negative regulation of DNA damage response, signal transduction by p53 class mediator innate immune response positive regulation of fibroblast proliferation phenylpyruvate tautomerase activity positive regulation of cytokine secretion positive regulation of peptidyl-tyrosine phosphorylation leukocyte migration positive chemotaxis positive regulation of prostaglandin secretion involved in immune response positive regulation of myeloid leukocyte cytokine production involved in immune response extracellular exosome protein homotrimerization positive regulation of ERK1 and ERK2 cascade negative regulation of cell cycle arrest positive regulation of arachidonic acid secretion negative regulation of cell aging negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator ficolin-1-rich granule lumen positive regulation of chemokine (C-X-C motif) ligand 2 production  uc002zyr.1 uc002zyr.2 uc002zyr.3 
ENST00000215770.6 DDTL ENST00000215770.6 Homo sapiens D-dopachrome tautomerase like (DDTL), mRNA. (from RefSeq NM_001084393) A6NHG4 B4DJJ7 DDTL_HUMAN ENST00000215770.1 ENST00000215770.2 ENST00000215770.3 ENST00000215770.4 ENST00000215770.5 NM_001084393 uc002zyy.1 uc002zyy.2 uc002zyy.3 uc002zyy.4 uc002zyy.5 uc002zyy.6 May have lyase activity (Potential). Cytoplasm (By similarity). Belongs to the MIF family. cytoplasm lyase activity extracellular exosome  uc002zyy.1 uc002zyy.2 uc002zyy.3 uc002zyy.4 uc002zyy.5 uc002zyy.6 
ENST00000215781.3 OSM ENST00000215781.3 Homo sapiens oncostatin M (OSM), transcript variant 1, mRNA. (from RefSeq NM_020530) ENST00000215781.1 ENST00000215781.2 NM_020530 ONCM_HUMAN P13725 Q6FHP8 Q9UCP6 uc003ahb.1 uc003ahb.2 uc003ahb.3 uc003ahb.4 uc003ahb.5 This gene encodes a member of the leukemia inhibitory factor/oncostatin-M (LIF/OSM) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a secreted cytokine and growth regulator that inhibits the proliferation of a number of tumor cell lines. This protein also regulates the production of other cytokines, including interleukin 6, granulocyte-colony stimulating factor and granulocyte-macrophage colony stimulating factor in endothelial cells. This gene and the related gene, leukemia inhibitory factor, also present on chromosome 22, may have resulted from the duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Growth regulator. Inhibits the proliferation of a number of tumor cell lines. Stimulates proliferation of AIDS-KS cells. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. Uses both type I OSM receptor (heterodimers composed of LIPR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST). Involved in the maturation of fetal hepatocytes, thereby promoting liver development and regeneration (By similarity). Secreted. Propeptide processing is not important for receptor binding activity but may be important growth-inhibitory activity. Belongs to the LIF/OSM family. positive regulation of acute inflammatory response cytokine activity oncostatin-M receptor binding protein binding extracellular region extracellular space immune response multicellular organism development growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of phosphatidylinositol 3-kinase signaling cytokine-mediated signaling pathway positive regulation of peptidyl-serine phosphorylation oncostatin-M-mediated signaling pathway regulation of growth positive regulation of tyrosine phosphorylation of STAT protein positive regulation of MAPK cascade positive regulation of transcription from RNA polymerase II promoter negative regulation of hormone secretion positive regulation of inflammatory response positive regulation of peptidyl-tyrosine phosphorylation positive regulation of cell division positive regulation of protein kinase B signaling regulation of hematopoietic stem cell differentiation positive regulation of interleukin-17 secretion  uc003ahb.1 uc003ahb.2 uc003ahb.3 uc003ahb.4 uc003ahb.5 
ENST00000215790.12 TBC1D10A ENST00000215790.12 Homo sapiens TBC1 domain family member 10A (TBC1D10A), transcript variant 2, mRNA. (from RefSeq NM_031937) B3KXT8 ENST00000215790.1 ENST00000215790.10 ENST00000215790.11 ENST00000215790.2 ENST00000215790.3 ENST00000215790.4 ENST00000215790.5 ENST00000215790.6 ENST00000215790.7 ENST00000215790.8 ENST00000215790.9 EPI64 NM_031937 O76053 Q543A2 Q9BXI6 TB10A_HUMAN TBC1D10 uc003ahk.1 uc003ahk.2 uc003ahk.3 uc003ahk.4 uc003ahk.5 uc003ahk.6 Acts as GTPase-activating protein for RAB27A, but not for RAB2A, RAB3A, nor RAB4A. Binds to the first PDZ domain of SLC9A3R1 and SLC9A3R2. Cell projection, microvillus. Note=Localizes to the microvilli-rich region of the syncytiotrophoblast. In melanocytes, located at the periphery of cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BXI6-1; Sequence=Displayed; Name=2; IsoId=Q9BXI6-2; Sequence=VSP_043119; Note=No experimental confirmation available; Exists in both phosphorylated and non-phosphorylated state. Contains 1 Rab-GAP TBC domain. Sequence=AAC23434.1; Type=Erroneous gene model prediction; guanyl-nucleotide exchange factor activity GTPase activator activity protein binding cytosol plasma membrane microvillus intracellular protein transport Rab GTPase binding PDZ domain binding retrograde transport, endosome to Golgi cell projection cadherin binding positive regulation of proteolysis extracellular exosome activation of GTPase activity activation of cysteine-type endopeptidase activity regulation of cilium assembly  uc003ahk.1 uc003ahk.2 uc003ahk.3 uc003ahk.4 uc003ahk.5 uc003ahk.6 
ENST00000215793.13 SF3A1 ENST00000215793.13 Homo sapiens splicing factor 3a subunit 1 (SF3A1), mRNA. (from RefSeq NM_005877) ENST00000215793.1 ENST00000215793.10 ENST00000215793.11 ENST00000215793.12 ENST00000215793.2 ENST00000215793.3 ENST00000215793.4 ENST00000215793.5 ENST00000215793.6 ENST00000215793.7 ENST00000215793.8 ENST00000215793.9 NM_005877 Q15459 SAP114 SF3A1_HUMAN uc003ahl.1 uc003ahl.2 uc003ahl.3 uc003ahl.4 uc003ahl.5 This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.875500.1, SRR3476690.853979.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215793.13/ ENSP00000215793.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Subunit of the splicing factor SF3A required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Identified in the spliceosome C complex. Component of splicing factor SF3A which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62, SF3A1/SAP114. SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Interacts with SF3A3. Q9BXW4:MAP1LC3C; NbExp=3; IntAct=EBI-1054743, EBI-2603996; P08047:SP1; NbExp=2; IntAct=EBI-1054743, EBI-298336; Nucleus (By similarity). Ubiquitously expressed. Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 2 SURP motif repeats. Contains 1 ubiquitin-like domain. mRNA 3'-splice site recognition mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm spliceosomal complex U2-type spliceosomal complex U2 snRNP RNA processing mRNA processing RNA splicing nuclear speck U2-type prespliceosome U2-type precatalytic spliceosome catalytic step 2 spliceosome U2-type prespliceosome assembly  uc003ahl.1 uc003ahl.2 uc003ahl.3 uc003ahl.4 uc003ahl.5 
ENST00000215794.8 USP18 ENST00000215794.8 Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA. (from RefSeq NM_017414) ENST00000215794.1 ENST00000215794.2 ENST00000215794.3 ENST00000215794.4 ENST00000215794.5 ENST00000215794.6 ENST00000215794.7 ISG43 NM_017414 Q6IAD9 Q9NY71 Q9UMW8 UBP18_HUMAN uc002zny.1 uc002zny.2 uc002zny.3 uc002zny.4 uc002zny.5 The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL136690.1, BC014896.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215794.8/ ENSP00000215794.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Can efficiently cleave only ISG15 fusions including native ISG15 conjugates linked via isopeptide bonds. Necessary to maintain a critical cellular balance of ISG15-conjugated proteins in both healthy and stressed organisms. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Belongs to the peptidase C19 family. cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus cytoplasm cytosol proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity regulation of inflammatory response regulation of type I interferon-mediated signaling pathway  uc002zny.1 uc002zny.2 uc002zny.3 uc002zny.4 uc002zny.5 
ENST00000215798.10 RNF215 ENST00000215798.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H0Y2L4) AK293904 ENST00000215798.1 ENST00000215798.2 ENST00000215798.3 ENST00000215798.4 ENST00000215798.5 ENST00000215798.6 ENST00000215798.7 ENST00000215798.8 ENST00000215798.9 H0Y2L4 H0Y2L4_HUMAN uc062dci.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc062dci.1 
ENST00000215812.9 SEC14L3 ENST00000215812.9 Homo sapiens SEC14 like lipid binding 3 (SEC14L3), transcript variant 1, mRNA. (from RefSeq NM_174975) ENST00000215812.1 ENST00000215812.2 ENST00000215812.3 ENST00000215812.4 ENST00000215812.5 ENST00000215812.6 ENST00000215812.7 ENST00000215812.8 NM_174975 Q495V8 Q9UDX4 S14L3_HUMAN TAP2 uc003ahy.1 uc003ahy.2 uc003ahy.3 uc003ahy.4 uc003ahy.5 The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. ##Evidence-Data-START## Transcript exon combination :: AY240872.1, BC101004.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215812.9/ ENSP00000215812.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids. Contains 1 CRAL-TRIO domain. Contains 1 GOLD domain. lipid binding extracellular exosome  uc003ahy.1 uc003ahy.2 uc003ahy.3 uc003ahy.4 uc003ahy.5 
ENST00000215829.8 SNRPD3 ENST00000215829.8 Homo sapiens small nuclear ribonucleoprotein D3 polypeptide (SNRPD3), transcript variant 1, mRNA. (from RefSeq NM_004175) B5BU13 ENST00000215829.1 ENST00000215829.2 ENST00000215829.3 ENST00000215829.4 ENST00000215829.5 ENST00000215829.6 ENST00000215829.7 NM_004175 P43331 P62318 SMD3_HUMAN uc003aam.1 uc003aam.2 uc003aam.3 uc003aam.4 This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Appears to function in the U7 snRNP complex that is involved in histone 3'-end processing. Binds to the downstream cleavage product (DCP) of histone pre-mRNA in a U7 snRNP dependent manner. Component of the heptameric ring U7 snRNP complex, or U7 Sm protein core complex, at least composed of LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF, SNRPG and U7 snRNA. Formation of the U7 snRNP is an ATP-dependent process mediated by a specialized SMN complex containing at least the Sm protein core complex and additionally, the U7-specific LSM10 and LSM11 proteins. Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. P54105:CLNS1A; NbExp=5; IntAct=EBI-372789, EBI-724693; Nucleus. Methylated on arginine residues by PRMT5 and PRMT7; methylation is required for assembly and biogenesis of snRNPs. Arg-97 is dimethylated, probably to asymmetric dimethylarginine. In the autoimmune disease systemic lupus erythematosus, antinuclear antibodies are developed with Sm specificity. Belongs to the snRNP core protein family. commitment complex spliceosomal snRNP assembly mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm spliceosomal complex U5 snRNP U7 snRNP U1 snRNP U2 snRNP U4 snRNP U12-type spliceosomal complex telomerase holoenzyme complex cytoplasm cytosol termination of RNA polymerase II transcription RNA processing mRNA processing protein methylation histone mRNA metabolic process RNA splicing nuclear body enzyme binding small nuclear ribonucleoprotein complex methylosome pICln-Sm protein complex SMN-Sm protein complex U4/U6 x U5 tri-snRNP complex nuclear import telomerase RNA binding U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome histone pre-mRNA DCP binding U7 snRNA binding U1 snRNP binding  uc003aam.1 uc003aam.2 uc003aam.3 uc003aam.4 
ENST00000215832.11 MAPK1 ENST00000215832.11 Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA. (from RefSeq NM_002745) ENST00000215832.1 ENST00000215832.10 ENST00000215832.2 ENST00000215832.3 ENST00000215832.4 ENST00000215832.5 ENST00000215832.6 ENST00000215832.7 ENST00000215832.8 ENST00000215832.9 NM_002745 Q1HBJ4 Q1HBJ4_HUMAN hCG_32557 uc002zvn.1 uc002zvn.2 uc002zvn.3 uc002zvn.4 uc002zvn.5 This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]. ATP + a protein = ADP + a phosphoprotein. Contains 1 protein kinase domain. MAPK cascade nucleotide binding activation of MAPK activity phosphotyrosine binding double-stranded DNA binding protein kinase activity protein serine/threonine kinase activity MAP kinase activity MAP kinase kinase activity ATP binding nucleus nucleoplasm cytoplasm mitochondrion cytosol plasma membrane caveola protein phosphorylation cellular response to DNA damage stimulus signal transduction heart development aging transcription factor binding positive regulation of cell proliferation RNA polymerase II carboxy-terminal domain kinase activity response to toxic substance animal organ morphogenesis neural crest cell development postsynaptic density diadenosine tetraphosphate biosynthetic process kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation sensory perception of pain cytosine metabolic process protein kinase binding phosphatase binding regulation of ossification positive regulation of cell migration axon regulation of cellular pH thyroid gland development pseudopodium mitogen-activated protein kinase kinase kinase binding lipopolysaccharide-mediated signaling pathway response to lipopolysaccharide dendrite cytoplasm macromolecular complex mammary gland epithelial cell proliferation response to nicotine intracellular signal transduction positive regulation of protein import into nucleus outer ear morphogenesis identical protein binding perikaryon response to exogenous dsRNA response to estrogen negative regulation of cell differentiation positive regulation of translation positive regulation of transcription, DNA-templated decidualization thymus development T cell receptor signaling pathway B cell receptor signaling pathway Bergmann glial cell differentiation positive regulation of cardiac muscle cell proliferation long-term synaptic potentiation face development lung morphogenesis trachea formation labyrinthine layer blood vessel development cardiac neural crest cell development involved in heart development ERK1 and ERK2 cascade cellular response to organic substance cellular response to tumor necrosis factor cellular response to granulocyte macrophage colony-stimulating factor stimulus  uc002zvn.1 uc002zvn.2 uc002zvn.3 uc002zvn.4 uc002zvn.5 
ENST00000215838.8 TCN2 ENST00000215838.8 Homo sapiens transcobalamin 2 (TCN2), transcript variant 1, mRNA. (from RefSeq NM_000355) ENST00000215838.1 ENST00000215838.2 ENST00000215838.3 ENST00000215838.4 ENST00000215838.5 ENST00000215838.6 ENST00000215838.7 NM_000355 P20062 Q96FD4 Q9BVI8 Q9UCI5 Q9UCI6 Q9UDM0 TC2 TCO2_HUMAN uc003aip.1 uc003aip.2 uc003aip.3 uc003aip.4 This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P20062-1; Sequence=Displayed; Name=2; IsoId=P20062-2; Sequence=VSP_043711; Note=No experimental confirmation available; Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism. Defects in TCN2 are the cause of transcobalamin II deficiency (TCN2 deficiency) [MIM:275350]. This results in various forms of anemia. Belongs to the eukaryotic cobalamin transport proteins family. Name=TCN2base; Note=TCN2 mutation db; URL="http://bioinf.uta.fi/TCN2base/"; protein binding extracellular region extracellular space endosome ion transport cobalt ion transport cobalamin metabolic process cobalamin transport cobalamin binding lysosomal lumen metal ion binding  uc003aip.1 uc003aip.2 uc003aip.3 uc003aip.4 
ENST00000215855.7 CRYBB3 ENST00000215855.7 Homo sapiens crystallin beta B3 (CRYBB3), mRNA. (from RefSeq NM_004076) CRBB3_HUMAN CRYB3 ENST00000215855.1 ENST00000215855.2 ENST00000215855.3 ENST00000215855.4 ENST00000215855.5 ENST00000215855.6 NM_004076 P26998 Q3B7S9 Q3T1B7 Q6ISK6 Q92965 Q9UH09 uc003abo.1 uc003abo.2 uc003abo.3 uc003abo.4 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B2. Mutations in this gene result in cataract congenital nuclear autosomal recessive type 2. [provided by RefSeq, Feb 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC102021.1, CR456427.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215855.7/ ENSP00000215855.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Crystallins are the dominant structural components of the vertebrate eye lens. Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity). Has a two-domain beta-structure, folded into four very similar Greek key motifs. Mass=24222; Mass_error=3; Method=Electrospray; Range=1-211; Source=PubMed:8999933; Defects in CRYBB3 are the cause of cataract congenital nuclear autosomal recessive type 2 (CATCN2) [MIM:609741]. A congenital cataract affecting the central nucleus of the eye. Nuclear cataracts are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Belongs to the beta/gamma-crystallin family. Contains 4 beta/gamma crystallin 'Greek key' domains. lens development in camera-type eye structural constituent of eye lens protein binding visual perception  uc003abo.1 uc003abo.2 uc003abo.3 uc003abo.4 
ENST00000215862.8 MORC2 ENST00000215862.8 Homo sapiens MORC family CW-type zinc finger 2 (MORC2), transcript variant 3, mRNA. (from RefSeq NM_014941) B2RNB1 ENST00000215862.1 ENST00000215862.2 ENST00000215862.3 ENST00000215862.4 ENST00000215862.5 ENST00000215862.6 ENST00000215862.7 KIAA0852 MORC2_HUMAN NM_014941 Q9UF28 Q9Y6V2 Q9Y6X9 ZCWCC1 uc003aje.1 uc003aje.2 This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. May act as a transcriptional repressor. Down-regulates CA9 expression. Interacts with HDAC4. Nucleus. Cytoplasm, cytosol. Note=Mainly located in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y6X9-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q9Y6X9-2; Sequence=VSP_041759; Note=No experimental confirmation available; Highly expressed in smooth muscle, pancreas and testis. Contains 1 CW-type zinc finger. Sequence=AAC12954.1; Type=Erroneous gene model prediction; Sequence=BAA74875.2; Type=Miscellaneous discrepancy; Note=Intron retention; nucleotide binding magnesium ion binding heterochromatin chromatin binding protein binding ATP binding nucleus chromosome cytoplasm cytosol chromatin remodeling lipid metabolic process fatty acid metabolic process cellular response to DNA damage stimulus zinc ion binding nuclear matrix hydrolase activity ATPase activity protein homodimerization activity negative regulation of gene expression, epigenetic negative regulation of single stranded viral RNA replication via double stranded DNA intermediate metal ion binding positive regulation of methylation-dependent chromatin silencing  uc003aje.1 uc003aje.2 
ENST00000215882.10 SLC25A1 ENST00000215882.10 Homo sapiens solute carrier family 25 member 1 (SLC25A1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005984) A8K8E8 ENST00000215882.1 ENST00000215882.2 ENST00000215882.3 ENST00000215882.4 ENST00000215882.5 ENST00000215882.6 ENST00000215882.7 ENST00000215882.8 ENST00000215882.9 NM_005984 P53007 Q9BSK6 SLC20A3 TXTP_HUMAN uc002zoz.1 uc002zoz.2 uc002zoz.3 uc002zoz.4 uc002zoz.5 uc002zoz.6 uc002zoz.7 This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. Involved in citrate-H(+)/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD(+) for the glycolytic pathway. Mitochondrion inner membrane; Multi-pass membrane protein. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. nucleus mitochondrion mitochondrial inner membrane gluconeogenesis mitochondrial citrate transport citrate transmembrane transporter activity tricarboxylic acid transmembrane transporter activity membrane integral component of membrane transmembrane transporter activity fatty-acyl-CoA biosynthetic process transmembrane transport extracellular exosome citrate secondary active transmembrane transporter activity  uc002zoz.1 uc002zoz.2 uc002zoz.3 uc002zoz.4 uc002zoz.5 uc002zoz.6 uc002zoz.7 
ENST00000215885.4 PLA2G3 ENST00000215885.4 Homo sapiens phospholipase A2 group III (PLA2G3), mRNA. (from RefSeq NM_015715) ENST00000215885.1 ENST00000215885.2 ENST00000215885.3 NM_015715 O95768 PA2G3_HUMAN Q9NZ20 uc003aka.1 uc003aka.2 uc003aka.3 uc003aka.4 uc003aka.5 This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC025316.1, AF220490.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215885.4/ ENSP00000215885.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Shows an 11-fold preference for phosphatidylglycerol over phosphatidylcholine (PC). Preferential cleavage: 1-palmitoyl-2-linoleoyl- phosphatidylethanolamine (PE) > 1-palmitoyl-2-linoleoyl-PC > 1- palmitoyl-2-arachidonoyl-PC > 1-palmitoyl-2-arachidonoyl-PE. Plays a role in ciliogenesis. Phosphatidylcholine + H(2)O = 1- acylglycerophosphocholine + a carboxylate. Binds 1 calcium ion per subunit. Arachidonic acid release is markedly increased by glypican, a glycosylphosphatidylinositol-anchored heparan sulfate proteoglycan. Secreted. Cell membrane. Cytoplasm, cytoskeleton, centrosome, centriole. Expressed in kidney, heart, liver, and skeletal muscle. Also present in placenta and peripheral blood leukocytes. Not detected in brain, colon, thymus, spleen and small intestine. In lung, expressed in bronchial epithelial cells and alveolar macrophages, but scarcely detected in alveolar epithelium, arterial walls and interstitial fibroblasts (at protein level). In joints of osteoarthritis and rheumatoid arthritis, expressed in endothelial cells (at protein level). In normal heart, detected in some vessels. In myocardial tissues with acute infarction, expressed in vascular endothelial cells adjacent to cardiomyocytes and those in lesions with granulation. Expression in cardiomyocytes is scarce (at protein level). In uterus, breast and colon cancers, detected in tumor cells and neighboring microvascular endothelium, but not in normal glandular tissues (at protein level). By IL1B/interleukin-1 beta and TNF in microvascular endothelial cells (at protein level). N-glycosylation does not affect the catalytic activity, but is required for proper secretion. A nonglycosylated form was observed in several cell types. In several cell types, the N- and C-termini are cleaved off. Belongs to the phospholipase A2 family. Sequence=AAD15617.1; Type=Erroneous gene model prediction; acrosome assembly phospholipase A2 activity extracellular region extracellular space cytoplasm centriole cytoskeleton plasma membrane lipid metabolic process phospholipid metabolic process sperm axoneme assembly membrane lipid catabolic process hydrolase activity lipoxygenase pathway cell projection organization phosphatidylglycerol acyl-chain remodeling phosphatidylcholine acyl-chain remodeling phosphatidylethanolamine acyl-chain remodeling mast cell granule mast cell degranulation phosphatidylcholine metabolic process metal ion binding calcium-dependent phospholipase A2 activity cell development arachidonic acid secretion cilium assembly  uc003aka.1 uc003aka.2 uc003aka.3 uc003aka.4 uc003aka.5 
ENST00000215886.6 LGALS2 ENST00000215886.6 Homo sapiens galectin 2 (LGALS2), mRNA. (from RefSeq NM_006498) ENST00000215886.1 ENST00000215886.2 ENST00000215886.3 ENST00000215886.4 ENST00000215886.5 LEG2_HUMAN NM_006498 P05162 Q6FGY4 uc003ata.1 uc003ata.2 uc003ata.3 uc003ata.4 uc003ata.5 The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP303532.1, ERR279840.1904.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215886.6/ ENSP00000215886.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein binds beta-galactoside. Its physiological function is not yet known. Homodimer. Contains 1 galectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Galectin-2; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Stlect_280"; protein binding galactoside binding carbohydrate binding  uc003ata.1 uc003ata.2 uc003ata.3 uc003ata.4 uc003ata.5 
ENST00000215904.7 PDXP ENST00000215904.7 Homo sapiens pyridoxal phosphatase (PDXP), mRNA. (from RefSeq NM_020315) CIN ENST00000215904.1 ENST00000215904.2 ENST00000215904.3 ENST00000215904.4 ENST00000215904.5 ENST00000215904.6 NM_020315 PLP PLPP PLPP_HUMAN Q96GD0 Q9UGY2 uc003atm.1 uc003atm.2 uc003atm.3 Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC064922.1, SRR1163655.298190.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215904.7/ ENSP00000215904.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Protein serine phosphatase that dephosphorylates 'Ser-3' in cofilin and probably also dephosphorylates phospho-serine residues in DSTN. Regulates cofilin-dependent actin cytoskeleton reorganization. Required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phospho-threonines in LIMK1. Does not dephosphorylate peptides containing phospho- tyrosine. Pyridoxal phosphate phosphatase. Has some activity towards pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PMP) and pyridoxine 5'-phosphate (PNP), with a highest activity with PLP followed by PNP. Pyridoxal 5'-phosphate + H(2)O = pyridoxal + phosphate. O-phospho-L(or D)-serine + H(2)O = L(or D)- serine + phosphate. Divalent ions. Magnesium is the most effective. Inhibited by NaF, Zn(2+), Ca(2+), Mn(2+) and EDTA. Homodimer. P29066:Arrb1 (xeno); NbExp=2; IntAct=EBI-4303060, EBI-4303019; Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with the actin cytoskeleton in membrane ruffles and lamellipodia. Diffusely distributed throughout the cytosol during pro-metaphase and metaphase. Detected at the dynamic cell poles during telophase. Detected at the cleavage furrow and contractile ring during cytokinesis. Transiently detected at the plasma membrane in late stages of cytokinesis. Detected at the midbody. Ubiquitous. Highly expressed in all the regions of central nerve system except the spinal cord. Also expressed at high level in liver and testis. In fetus, it is weakly expressed in all organs except brain. Belongs to the HAD-like hydrolase superfamily. magnesium ion binding phosphoserine phosphatase activity phosphoprotein phosphatase activity protein binding cytoplasm cytosol cytoskeleton plasma membrane cell-cell junction protein dephosphorylation regulation of mitotic nuclear division membrane dephosphorylation hydrolase activity phosphatase activity positive regulation of actin filament depolymerization heat shock protein binding actin rod assembly lamellipodium membrane pyridoxal phosphate catabolic process regulation of cytokinesis ruffle membrane pyridoxal phosphatase activity protein homodimerization activity cell projection metal ion binding cellular response to ATP actin cytoskeleton lamellipodium midbody cleavage furrow contractile ring  uc003atm.1 uc003atm.2 uc003atm.3 
ENST00000215906.6 ASPHD2 ENST00000215906.6 Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA. (from RefSeq NM_020437) ASPH2_HUMAN B2RCH3 ENST00000215906.1 ENST00000215906.2 ENST00000215906.3 ENST00000215906.4 ENST00000215906.5 NM_020437 Q6ICH7 Q7L0W3 Q9NSN3 uc003acg.1 uc003acg.2 uc003acg.3 uc003acg.4 Membrane; Single-pass type II membrane protein (Potential). Belongs to the aspartyl/asparaginyl beta-hydroxylase family. Sequence=AAH36753.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG37570.1; Type=Erroneous initiation; Note=Translation N-terminally extended; membrane integral component of membrane oxidoreductase activity peptidyl-amino acid modification metal ion binding dioxygenase activity oxidation-reduction process  uc003acg.1 uc003acg.2 uc003acg.3 uc003acg.4 
ENST00000215909.10 LGALS1 ENST00000215909.10 Homo sapiens galectin 1 (LGALS1), mRNA. (from RefSeq NM_002305) B2R5E8 ENST00000215909.1 ENST00000215909.2 ENST00000215909.3 ENST00000215909.4 ENST00000215909.5 ENST00000215909.6 ENST00000215909.7 ENST00000215909.8 ENST00000215909.9 LEG1_HUMAN NM_002305 P09382 Q9UDK5 uc003atn.1 uc003atn.2 uc003atn.3 uc003atn.4 uc003atn.5 The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020675.1, GQ891519.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000215909.10/ ENSP00000215909.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May regulate apoptosis, cell proliferation and cell differentiation. Binds beta-galactoside and a wide array of complex carbohydrates. Inhibits CD45 protein phosphatase activity and therefore the dephosphorylation of Lyn kinase. Homodimer. Binds LGALS3BP. Interacts with CD2, CD3, CD4, CD7, CD43 and CD45. Interacts with laminin (via poly-N- acetyllactosamine). Secreted, extracellular space, extracellular matrix. Expressed in placenta, maternal decidua and fetal membranes. Within placenta, expressed in trophoblasts, stromal cells, villous endothelium, syncytiotrophoblast apical membrane and villous stroma. Within fetal membranes, expressed in amnion, chorioamniotic mesenchyma and chorion (at protein level). Expressed in cardiac, smooth, and skeletal muscle, neurons, thymus, kidney and hematopoietic cells. Contains 1 galectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Galectin-1; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Stlect_00116"; plasma cell differentiation RNA binding protein binding extracellular region extracellular space intracellular nucleus cytoplasm endoplasmic reticulum lumen cytosol apoptotic process cell surface negative regulation of cell-substrate adhesion negative regulation of neuron projection development carbohydrate binding lactose binding T cell costimulation positive regulation of erythrocyte aggregation response to isolation stress response to drug protein homodimerization activity regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling laminin binding post-translational protein modification cellular protein metabolic process myoblast differentiation positive regulation of viral entry into host cell response to axon injury extracellular exosome cellular response to glucose stimulus cellular response to organic cyclic compound positive regulation of dendritic cell differentiation  uc003atn.1 uc003atn.2 uc003atn.3 uc003atn.4 uc003atn.5 
ENST00000215912.10 PIK3IP1 ENST00000215912.10 Homo sapiens phosphoinositide-3-kinase interacting protein 1 (PIK3IP1), transcript variant 1, mRNA. (from RefSeq NM_052880) B4DRR9 ENST00000215912.1 ENST00000215912.2 ENST00000215912.3 ENST00000215912.4 ENST00000215912.5 ENST00000215912.6 ENST00000215912.7 ENST00000215912.8 ENST00000215912.9 HGFL NM_052880 O00318 P3IP1_HUMAN Q49A94 Q86YW2 Q8NCJ9 Q96FE7 uc003akm.1 uc003akm.2 uc003akm.3 uc003akm.4 uc003akm.5 Negative regulator of hepatic phosphatidylinositol 3- kinase (PI3K) activity (By similarity). Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=HGFL(L); IsoId=Q96FE7-1; Sequence=Displayed; Name=2; Synonyms=HGFL(S); IsoId=Q96FE7-2; Sequence=VSP_023639, VSP_023640; Name=3; IsoId=Q96FE7-3; Sequence=VSP_023638; Note=No experimental confirmation available; Name=4; IsoId=Q96FE7-4; Sequence=VSP_043368; Note=No experimental confirmation available; N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-66: dHex1Hex5HexNAc4 (major) and dHex1Hex6HexNAc5 (minor). Contains 1 kringle domain. serine-type endopeptidase activity protein binding plasma membrane proteolysis negative regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane phosphatidylinositol 3-kinase catalytic subunit binding negative regulation of phosphatidylinositol 3-kinase activity  uc003akm.1 uc003akm.2 uc003akm.3 uc003akm.4 uc003akm.5 
ENST00000215917.11 SRRD ENST00000215917.11 Homo sapiens SRR1 domain containing (SRRD), mRNA. (from RefSeq NM_001013694) ENST00000215917.1 ENST00000215917.10 ENST00000215917.2 ENST00000215917.3 ENST00000215917.4 ENST00000215917.5 ENST00000215917.6 ENST00000215917.7 ENST00000215917.8 ENST00000215917.9 NM_001013694 Q6NXP8 Q9UH36 SRR1L SRR1L_HUMAN uc010gve.1 uc010gve.2 uc010gve.3 uc010gve.4 May be involved in a circadian clock input pathway (By similarity). Belongs to the SRR1 family. nucleus cytoplasm heme biosynthetic process microtubule-based process circadian rhythm regulation of circadian rhythm rhythmic process regulation of heme biosynthetic process  uc010gve.1 uc010gve.2 uc010gve.3 uc010gve.4 
ENST00000215919.3 PATZ1 ENST00000215919.3 Homo sapiens POZ/BTB and AT hook containing zinc finger 1 (PATZ1), transcript variant 4, mRNA. (from RefSeq NM_032051) ENST00000215919.1 ENST00000215919.2 NM_032051 PATZ PATZ1_HUMAN Q9HBE1 Q9HBE2 Q9HBE3 Q9P1A9 Q9UDU0 Q9Y529 RIAZ ZBTB19 ZNF278 ZSG uc003aks.1 uc003aks.2 uc003aks.3 uc003aks.4 The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]. Transcriptional repressor. Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=C; IsoId=Q9HBE1-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9HBE1-2; Sequence=VSP_008799, VSP_008800; Name=3; Synonyms=A; IsoId=Q9HBE1-3; Sequence=VSP_008801; Name=4; Synonyms=Short; IsoId=Q9HBE1-4; Sequence=VSP_008802, VSP_008800; Ubiquitous. Note=A chromosomal aberration involving PATZ1 is associated with small round cell sarcoma. Translocation t(1;22)(p36.1;q12) with EWSR1. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 A.T hook DNA-binding domain. Contains 1 BTB (POZ) domain. Contains 7 C2H2-type zinc fingers. Sequence=CAB51404.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding chromatin binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated spermatogenesis male gonad development regulation of gene expression T cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding  uc003aks.1 uc003aks.2 uc003aks.3 uc003aks.4 
ENST00000215941.9 ANKRD54 ENST00000215941.9 Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 4, non-coding RNA. (from RefSeq NR_146280) ANR54_HUMAN ENST00000215941.1 ENST00000215941.2 ENST00000215941.3 ENST00000215941.4 ENST00000215941.5 ENST00000215941.6 ENST00000215941.7 ENST00000215941.8 LIAR NR_146280 Q6NXT1 Q6ZSB1 Q9UGV1 uc003auc.1 uc003auc.2 uc003auc.3 uc003auc.4 uc003auc.5 Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation (By similarity). Interacts (via ankyrin repeat region) with LYN (via SH3- domain) in an activation-independent status of LYN (By similarity). Forms a multiprotein complex with LYN and HCLS1 (By similarity). Interacts with TSN2, VAV1, DBNL AND LASP1 (By similarity). Nucleus (By similarity). Cytoplasm (By similarity). Midbody (By similarity). Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NXT1-1; Sequence=Displayed; Name=2; IsoId=Q6NXT1-2; Sequence=VSP_022770, VSP_022771; Note=No experimental confirmation available; Contains 4 ANK repeats. protein binding nucleus cytoplasm nucleocytoplasmic transport protein kinase regulator activity midbody macromolecular complex binding positive regulation of erythrocyte differentiation regulation of protein kinase activity regulation of intracellular signal transduction  uc003auc.1 uc003auc.2 uc003auc.3 uc003auc.4 uc003auc.5 
ENST00000215956.10 SNU13 ENST00000215956.10 small nuclear ribonucleoprotein 13 (from HGNC SNU13) CTA-216E10.8-001 D50420 ENST00000215956.1 ENST00000215956.2 ENST00000215956.3 ENST00000215956.4 ENST00000215956.5 ENST00000215956.6 ENST00000215956.7 ENST00000215956.8 ENST00000215956.9 NHP2L1 Q6FHM6 Q6FHM6_HUMAN hCG_41538 uc062erq.1 uc062erq.2 box C/D snoRNP assembly RNA binding nucleus nucleolus single fertilization box C/D snoRNP complex box C/D snoRNA binding ribosome biogenesis ribonucleoprotein complex  uc062erq.1 uc062erq.2 
ENST00000215957.10 MICALL1 ENST00000215957.10 Homo sapiens MICAL like 1 (MICALL1), mRNA. (from RefSeq NM_033386) ENST00000215957.1 ENST00000215957.2 ENST00000215957.3 ENST00000215957.4 ENST00000215957.5 ENST00000215957.6 ENST00000215957.7 ENST00000215957.8 ENST00000215957.9 KIAA1668 MILK1_HUMAN MIRAB13 NM_033386 Q5TI16 Q7RTP5 Q8N3F8 Q8N3N8 Q9BVL9 Q9BY92 Q9UH43 Q9UH44 Q9UH45 uc003aui.1 uc003aui.2 uc003aui.3 uc003aui.4 May be a cytoskeletal regulator. Binds to Rab13. Cytoplasm, cytoskeleton (By similarity). Contains 1 CH (calponin-homology) domain. Contains 1 LIM zinc-binding domain. Sequence=CAD39036.1; Type=Frameshift; Positions=486, 507; protein binding endosome late endosome microtubule organizing center protein targeting to membrane endocytosis receptor-mediated endocytosis endosome membrane protein transport membrane Rab GTPase binding extrinsic component of membrane actin cytoskeleton organization neuron projection development late endosome membrane filamentous actin endocytic recycling slow endocytic recycling protein localization to endosome identical protein binding cadherin binding metal ion binding recycling endosome membrane phosphatidic acid binding plasma membrane tubulation cellular response to nerve growth factor stimulus retrograde transport, endosome to plasma membrane early endosome trans-Golgi network  uc003aui.1 uc003aui.2 uc003aui.3 uc003aui.4 
ENST00000215980.10 CENPM ENST00000215980.10 Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA. (from RefSeq NM_024053) A7LM22 C22orf18 CENPM_HUMAN ENST00000215980.1 ENST00000215980.2 ENST00000215980.3 ENST00000215980.4 ENST00000215980.5 ENST00000215980.6 ENST00000215980.7 ENST00000215980.8 ENST00000215980.9 ICEN39 NM_024053 PANE1 Q6I9W3 Q9NSP4 uc003bbn.1 uc003bbn.2 uc003bbn.3 uc003bbn.4 uc003bbn.5 The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU. The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. Nucleus. Cytoplasm. Chromosome, centromere, kinetochore. Note=Nuclear in non-confluent cells and cytoplasmic in confluent or dividing cells (By similarity). Localizes in the kinetochore domain of centromeres. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NSP4-1; Sequence=Displayed; Name=2; IsoId=Q9NSP4-2; Sequence=VSP_010259, VSP_010260; Note=Due to intron retention. No experimental confirmation available; Name=3; IsoId=Q9NSP4-3; Sequence=VSP_017726, VSP_017725; Isoform 3 is highly expressed in spleen, and intermediately in heart, prostate and ovary. Isoform 3 is highly expressed in resting CD19 B-cells and B-lineage chronic lymphocytic leukemia (B-CLL) cells and weakly expressed in activated B-cells. Isoform 1 is selectively expressed in activated CD19 cells and weakly in resting CD19 B-cells. chromosome, centromeric region kinetochore condensed chromosome kinetochore nucleus nucleoplasm chromosome cytoplasm cytosol CENP-A containing nucleosome assembly  uc003bbn.1 uc003bbn.2 uc003bbn.3 uc003bbn.4 uc003bbn.5 
ENST00000216014.9 KDELR3 ENST00000216014.9 Homo sapiens KDEL endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 1, mRNA. (from RefSeq NM_006855) A8K7T7 B8ZZ26 ENST00000216014.1 ENST00000216014.2 ENST00000216014.3 ENST00000216014.4 ENST00000216014.5 ENST00000216014.6 ENST00000216014.7 ENST00000216014.8 ERD23_HUMAN NM_006855 O43731 O95557 Q4V750 Q4V767 Q53FP4 Q53GK1 uc003avv.1 uc003avv.2 uc003avv.3 uc003avv.4 uc003avv.5 This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Required for the retention of luminal endoplasmic reticulum proteins. Determines the specificity of the luminal ER protein retention system. Also required for normal vesicular traffic through the Golgi. This receptor recognizes K-D-E-L (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43731-1; Sequence=Displayed; Name=2; IsoId=O43731-2; Sequence=VSP_022856; Belongs to the ERD2 family. Golgi membrane KDEL sequence binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cis-Golgi network protein retention in ER lumen ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER protein transport membrane integral component of membrane vesicle-mediated transport transport vesicle COPI-coated vesicle membrane cytoplasmic vesicle IRE1-mediated unfolded protein response ER retention sequence binding  uc003avv.1 uc003avv.2 uc003avv.3 uc003avv.4 uc003avv.5 
ENST00000216019.11 DDX17 ENST00000216019.11 DEAD-box helicase 17 (from HGNC DDX17) AL713763 ENST00000216019.1 ENST00000216019.10 ENST00000216019.2 ENST00000216019.3 ENST00000216019.4 ENST00000216019.5 ENST00000216019.6 ENST00000216019.7 ENST00000216019.8 ENST00000216019.9 uc062eft.1  uc062eft.1 
ENST00000216024.7 DMC1 ENST00000216024.7 Homo sapiens DNA meiotic recombinase 1 (DMC1), transcript variant 1, mRNA. (from RefSeq NM_007068) A8K9A2 DMC1H DMC1_HUMAN ENST00000216024.1 ENST00000216024.2 ENST00000216024.3 ENST00000216024.4 ENST00000216024.5 ENST00000216024.6 LIM15 NM_007068 Q08AI1 Q14565 Q99498 Q9UH11 uc003avz.1 uc003avz.2 uc003avz.3 uc003avz.4 This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. May participate in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks (By similarity). Interacts with the MND1-PSMC3IP heterodimer (By similarity). Double stacked ring-shaped homooctamer. Interacts with BRCA2. Nucleus (Potential). Belongs to the RecA family. DMC1 subfamily. Contains 1 HhH domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dmc1/"; recombinase activity nucleotide binding DNA recombinase assembly chromosome, telomeric region condensed nuclear chromosome ovarian follicle development oocyte maturation DNA binding double-stranded DNA binding single-stranded DNA binding protein binding ATP binding nucleus chromosome DNA metabolic process DNA repair mitotic recombination cell cycle synapsis reciprocal meiotic recombination male meiosis I gamete generation spermatogenesis spermatid development female gamete generation DNA-dependent ATPase activity strand invasion meiotic cell cycle  uc003avz.1 uc003avz.2 uc003avz.3 uc003avz.4 
ENST00000216027.8 HSCB ENST00000216027.8 Homo sapiens HscB mitochondrial iron-sulfur cluster cochaperone (HSCB), transcript variant 1, mRNA. (from RefSeq NM_172002) DNAJC20 ENST00000216027.1 ENST00000216027.2 ENST00000216027.3 ENST00000216027.4 ENST00000216027.5 ENST00000216027.6 ENST00000216027.7 HSC20 HSC20_HUMAN NM_172002 Q8IWL3 Q9BWS7 uc003aea.1 uc003aea.2 uc003aea.3 uc003aea.4 uc003aea.5 This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria. Cofactor biosynthesis; iron-sulfur cluster biosynthesis. Interacts with ISCU and HSPA9. Cytoplasm. Mitochondrion. Expressed in lung, brain, stomach, spleen, ovary, testis, liver, muscle and heart. Belongs to the HscB family. Contains 1 J domain. ATPase activator activity molecular_function protein binding nucleus cytoplasm mitochondrion cytosol iron-sulfur cluster assembly positive regulation of ATPase activity identical protein binding [2Fe-2S] cluster assembly metal ion binding chaperone binding protein oligomerization protein maturation by iron-sulfur cluster transfer  uc003aea.1 uc003aea.2 uc003aea.3 uc003aea.4 uc003aea.5 
ENST00000216029.8 CBY1 ENST00000216029.8 Homo sapiens chibby family member 1, beta catenin antagonist (CBY1), transcript variant 1, mRNA. (from RefSeq NM_015373) ARB1 B2R4S2 C22orf2 CBY CBY1_HUMAN ENST00000216029.1 ENST00000216029.2 ENST00000216029.3 ENST00000216029.4 ENST00000216029.5 ENST00000216029.6 ENST00000216029.7 HRIHFB2025 NM_015373 PGEA1 Q66GT6 Q9UIK9 Q9Y3M2 uc003awc.1 uc003awc.2 uc003awc.3 uc003awc.4 uc003awc.5 uc003awc.6 Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Inhibits the Wnt/Wingless pathway by binding to beta- catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation. Homodimer. Interacts with polycystin-2/PKD2 and GM130. Interacts with the C-terminal region of beta-catenin. Nucleus speckle. Golgi apparatus, trans- Golgi network. Note=Nuclear, in a punctate manner. Also found in the trans-Golgi. Widely expressed. Expressed at higher levels in heart, skeletal muscle, kidney and placenta. Also found in brain, lung, liver and testis. Significantly down-regulated in thyroid and metastatic uterine tumors. 'Chibby' is Japanese for 'small'; the gene was so named for the RNAi phenotype seen in flies. Belongs to the chibby family. protein binding nucleus nucleoplasm cytoplasm Golgi apparatus trans-Golgi network centriole cytosol cytoskeleton beta-catenin binding protein localization nuclear speck cell projection organization cell differentiation negative regulation of Wnt signaling pathway ciliary basal body identical protein binding protein homodimerization activity cell projection fat cell differentiation negative regulation of transcription, DNA-templated protein homotetramerization cardiac muscle cell differentiation cilium assembly ciliary transition zone assembly  uc003awc.1 uc003awc.2 uc003awc.3 uc003awc.4 uc003awc.5 uc003awc.6 
ENST00000216034.6 TOMM22 ENST00000216034.6 Homo sapiens translocase of outer mitochondrial membrane 22 (TOMM22), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_020243) ENST00000216034.1 ENST00000216034.2 ENST00000216034.3 ENST00000216034.4 ENST00000216034.5 NM_020243 Q9NS69 TOM22 TOM22_HUMAN uc003awe.1 uc003awe.2 uc003awe.3 uc003awe.4 uc003awe.5 The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.833620.1, SRR3476690.976671.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000216034.6/ ENSP00000216034.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore. Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with TOMM40. Interacts with PPP2R2B (By similarity). Q9P0U1:TOMM7; NbExp=2; IntAct=EBI-1047508, EBI-1180558; Mitochondrion outer membrane; Single-pass membrane protein (By similarity). Ubiquitous. Requires the transmembrane domain (TMD), a short segment (the import sequence) in the cytoplasmic domain localizing separately from the TMD and the C-tail signal in the C-terminal domain for efficient targeting and integration into the TOM complex (By similarity). The N-terminal domain (residues 1-62) is important for binding to the unfolded mature imported proteins. Residues (49-71) of the cytoplasmic domain interacts with TOMM20 while the C-terminal segment (residues 63-82) binds presequence of preproteins. Belongs to the Tom22 family. protein binding mitochondrion mitochondrial outer membrane mitochondrial outer membrane translocase complex protein targeting to mitochondrion intracellular protein transport protein transmembrane transporter activity protein transport membrane integral component of membrane macroautophagy positive regulation of apoptotic process protein import into mitochondrial outer membrane protein insertion into mitochondrial membrane protein transmembrane transport  uc003awe.1 uc003awe.2 uc003awe.3 uc003awe.4 uc003awe.5 
ENST00000216036.9 RSPH14 ENST00000216036.9 Homo sapiens radial spoke head 14 homolog (RSPH14), mRNA. (from RefSeq NM_014433) ENST00000216036.1 ENST00000216036.2 ENST00000216036.3 ENST00000216036.4 ENST00000216036.5 ENST00000216036.6 ENST00000216036.7 ENST00000216036.8 NM_014433 Q9UHP6 RTDR1 RTDR1_HUMAN uc002zwt.1 uc002zwt.2 uc002zwt.3 uc002zwt.4 uc002zwt.5 This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF133587.1, BC008986.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216036.9/ ENSP00000216036.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Expressed in adult cerebellum, spinal cord, spleen, skeletal muscle and some/5 out of 9 rhabdoid tumors. Detected in fetal brain, lung, liver and kidney. molecular_function protein binding cellular_component biological_process  uc002zwt.1 uc002zwt.2 uc002zwt.3 uc002zwt.4 uc002zwt.5 
ENST00000216037.10 XBP1 ENST00000216037.10 Homo sapiens X-box binding protein 1 (XBP1), transcript variant 1, mRNA. (from RefSeq NM_005080) ENST00000216037.1 ENST00000216037.2 ENST00000216037.3 ENST00000216037.4 ENST00000216037.5 ENST00000216037.6 ENST00000216037.7 ENST00000216037.8 ENST00000216037.9 NM_005080 P17861 Q8WYK6 Q969P1 Q96BD7 TREB5 XBP1_HUMAN XBP2 uc062cvg.1 This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]. Transcription factor essential for hepatocyte growth, the differentiation of plasma cells, the immunoglobulin secretion, and the unfolded protein response (UPR). Acts during endoplasmic reticulum stress (ER) by activating unfolded protein response (UPR) target genes via direct binding to the UPR element (UPRE). Binds DNA preferably to the CRE-like element 5'- GATGACGTG[TG]N(3)[AT]T-3', and also to some TPA response elements (TRE). Binds to the HLA DR-alpha promoter. Binds to the Tax- responsive element (TRE) of HTLV-I. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=XBP-1U; IsoId=P17861-1; Sequence=Displayed; Name=2; Synonyms=XBP-1S; IsoId=P17861-2; Sequence=VSP_012936; Note=Potent transcriptional activator. Induced by ERN1 in response to endoplasmic reticulum stress. ENR1 cleaves a 26-bp fragment causing a frameshift of the mRNA transcript; Up-regulated by ATF6 via direct binding to the ERSE in response to endoplasmic reticulum stress. Genetic variations in XBP1 could be associated with susceptibility to major affective disorder type 7 (MAFD7) [MIM:612371]. Major affective disorders represent a class of mental disorders characterized by a disturbance in mood as their predominant feature. Belongs to the bZIP family. Contains 1 bZIP (basic-leucine zipper) domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding enhancer sequence-specific DNA binding angiogenesis regulation of cell growth liver development positive regulation of protein phosphorylation endothelial cell proliferation protease binding epithelial cell maturation positive regulation of immunoglobulin production DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol regulation of transcription, DNA-templated transcription from RNA polymerase II promoter ubiquitin-dependent protein catabolic process lipid metabolic process fatty acid biosynthetic process autophagy apoptotic process immune response response to unfolded protein positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response organelle organization multicellular organism development muscle organ development positive regulation of cell proliferation regulation of autophagy positive regulation of autophagy negative regulation of myotube differentiation phosphatidylinositol 3-kinase signaling protein transport membrane integral component of membrane protein kinase binding cell differentiation integral component of endoplasmic reticulum membrane estrogen receptor binding positive regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway endoplasmic reticulum unfolded protein response exocrine pancreas development positive regulation of histone methylation chromatin DNA binding ubiquitin protein ligase binding regulation of protein stability protein destabilization cellular response to nutrient positive regulation of TOR signaling cellular response to insulin stimulus cellular response to oxidative stress response to endoplasmic reticulum stress cellular triglyceride homeostasis positive regulation of vascular wound healing cellular response to vascular endothelial growth factor stimulus IRE1-mediated unfolded protein response ATF6-mediated unfolded protein response cellular response to glucose starvation positive regulation of protein import into nucleus cholesterol homeostasis protein homodimerization activity negative regulation of apoptotic process sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of MHC class II biosynthetic process positive regulation of B cell differentiation positive regulation of T cell differentiation positive regulation of fat cell differentiation positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity vascular endothelial growth factor receptor signaling pathway neuron development positive regulation of immunoglobulin secretion positive regulation of protein kinase B signaling fatty acid homeostasis sterol homeostasis negative regulation of pathway-restricted SMAD protein phosphorylation adipose tissue development epithelial cell maturation involved in salivary gland development intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress negative regulation of ERK1 and ERK2 cascade cellular response to lipopolysaccharide cellular response to amino acid stimulus cellular response to fructose stimulus cellular response to glucose stimulus cellular response to interleukin-4 cellular response to peptide hormone stimulus cellular response to fluid shear stress cellular response to laminar fluid shear stress positive regulation of plasma cell differentiation negative regulation of endoplasmic reticulum unfolded protein response positive regulation of endoplasmic reticulum unfolded protein response positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter positive regulation of protein acetylation negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway positive regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of lactation positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell migration response to insulin-like growth factor stimulus positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress cellular response to leukemia inhibitory factor positive regulation of hepatocyte proliferation positive regulation of endothelial cell apoptotic process positive regulation of interleukin-6 secretion  uc062cvg.1 
ENST00000216038.6 RTCB ENST00000216038.6 Homo sapiens RNA 2',3'-cyclic phosphate and 5'-OH ligase (RTCB), mRNA. (from RefSeq NM_014306) B2R6A8 C22orf28 ENST00000216038.1 ENST00000216038.2 ENST00000216038.3 ENST00000216038.4 ENST00000216038.5 HSPC117 NM_014306 Q6IAI0 Q9BWL4 Q9NTH1 Q9P037 Q9P0J3 Q9Y3I0 RTCB_HUMAN uc003amm.1 uc003amm.2 uc003amm.3 uc003amm.4 Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'- phosphodiester. May act as a RNA ligase with broad substrate specificity, and may function toward other RNAs. ATP + (ribonucleotide)(n) + (ribonucleotide)(m) = AMP + diphosphate + (ribonucleotide)(n+m). Catalytic component of the tRNA-splicing ligase complex. Cytoplasm (By similarity). Belongs to the RtcB family. Sequence=AAF29081.1; Type=Frameshift; Positions=295, 298; Sequence=AAF67477.1; Type=Frameshift; Positions=173, 180; nucleotide binding tRNA exon ligation utilizing 2',3' cyclic phosphate of 5'-exon as source of linkage phosphate in utero embryonic development placenta development RNA binding RNA ligase (ATP) activity protein binding ATP binding nucleus nuclear envelope nucleoplasm cytoplasm endoplasmic reticulum membrane cytosol tRNA splicing, via endonucleolytic cleavage and ligation RNA processing tRNA processing RNA ligase activity ligase activity vinculin binding intracellular membrane-bounded organelle metal ion binding tRNA-splicing ligase complex  uc003amm.1 uc003amm.2 uc003amm.3 uc003amm.4 
ENST00000216039.9 JOSD1 ENST00000216039.9 Homo sapiens Josephin domain containing 1 (JOSD1), transcript variant 2, mRNA. (from RefSeq NM_001360235) A8K712 ENST00000216039.1 ENST00000216039.2 ENST00000216039.3 ENST00000216039.4 ENST00000216039.5 ENST00000216039.6 ENST00000216039.7 ENST00000216039.8 JOS1_HUMAN JSPH1 KIAA0063 NM_001360235 Q15040 uc003awf.1 uc003awf.2 uc003awf.3 uc003awf.4 Has low protease activity towards poly-ubiquitin chains (in vitro). May act as a deubiquitinating enzyme. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Contains 1 Josephin domain. Sequence=BAA06682.2; Type=Erroneous initiation; thiol-dependent ubiquitin-specific protease activity protein binding cytoplasm cytosol plasma membrane proteolysis peptidase activity membrane protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity  uc003awf.1 uc003awf.2 uc003awf.3 uc003awf.4 
ENST00000216044.10 GTPBP1 ENST00000216044.10 Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. (from RefSeq NM_004286) ENST00000216044.1 ENST00000216044.2 ENST00000216044.3 ENST00000216044.4 ENST00000216044.5 ENST00000216044.6 ENST00000216044.7 ENST00000216044.8 ENST00000216044.9 GTPB1_HUMAN NM_004286 O00178 Q6IC67 uc003awg.1 uc003awg.2 uc003awg.3 uc003awg.4 uc003awg.5 This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.199191.1, SRR1660807.264517.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216044.10/ ENSP00000216044.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity). Interacts with EXOSC2/RRP4, EXOSC3/RRP40, EXOSC5/RRP46, HNRNPD, HNRNPR and SYNCRIP. Identified in a complex with AANAT mRNA, but does not bind mRNA by itself (By similarity). Cytoplasm (By similarity). Belongs to the GTPBP1 GTP-binding protein family. Sequence=AAB51273.1; Type=Erroneous initiation; Sequence=CAG30387.1; Type=Erroneous initiation; nucleotide binding cytoplasmic exosome (RNase complex) RNA binding translation elongation factor activity GTPase activity GTP binding cytoplasm cytosol translational elongation immune response signal transduction membrane GTP metabolic process positive regulation of mRNA catabolic process  uc003awg.1 uc003awg.2 uc003awg.3 uc003awg.4 uc003awg.5 
ENST00000216061.9 PPP6R2 ENST00000216061.9 Homo sapiens protein phosphatase 6 regulatory subunit 2 (PPP6R2), transcript variant 13, mRNA. (from RefSeq NM_001365836) A6PVG3 B7Z7T3 ENST00000216061.1 ENST00000216061.2 ENST00000216061.3 ENST00000216061.4 ENST00000216061.5 ENST00000216061.6 ENST00000216061.7 ENST00000216061.8 KIAA0685 NM_001365836 O75170 PP6R2 PP6R2_HUMAN Q5U5P3 Q7Z2L2 Q7Z5G5 Q7Z731 Q9UGB9 SAPS2 uc003blb.1 uc003blb.2 uc003blb.3 The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## CDS exon combination :: BC000976.4 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2163105, SAMN01820687 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6- mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28. O00743:PPP6C; NbExp=2; IntAct=EBI-359739, EBI-359751; Cytoplasm. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=O75170-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=O75170-2; Sequence=VSP_030758, VSP_030759, VSP_030760, VSP_030761; Note=No experimental confirmation available; Name=3; IsoId=O75170-3; Sequence=VSP_037768, VSP_030758, VSP_030760; Name=4; IsoId=O75170-4; Sequence=VSP_030758, VSP_030760; Name=5; IsoId=O75170-5; Sequence=VSP_030760; Name=6; IsoId=O75170-6; Sequence=VSP_037767, VSP_030758, VSP_030760; Ubiquitously expressed with strongest expression in the testis followed by liver, heart, kidney, brain and placenta. Belongs to the SAPS family. Sequence=BAA31660.2; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding cytoplasm cytosol protein phosphatase binding intracellular membrane-bounded organelle regulation of phosphoprotein phosphatase activity  uc003blb.1 uc003blb.2 uc003blb.3 
ENST00000216068.9 DNAL4 ENST00000216068.9 Homo sapiens dynein axonemal light chain 4 (DNAL4), mRNA. (from RefSeq NM_005740) DNAL4_HUMAN ENST00000216068.1 ENST00000216068.2 ENST00000216068.3 ENST00000216068.4 ENST00000216068.5 ENST00000216068.6 ENST00000216068.7 ENST00000216068.8 NM_005740 O96015 uc003awj.1 uc003awj.2 uc003awj.3 uc003awj.4 uc003awj.5 This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]. ##Evidence-Data-START## Transcript exon combination :: AL035366.1, SRR3476690.696320.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2142586, SAMEA2145245 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216068.9/ ENSP00000216068.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity). Consists of at least two heavy chains and a number of intermediate and light chains. Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Belongs to the dynein light chain family. motor activity microtubule motor activity protein binding cytoplasm cytoskeleton microtubule plasma membrane cilium microtubule-based process microtubule-based movement dynein complex cell projection dynein intermediate chain binding dynein light intermediate chain binding positive regulation of ATP-dependent microtubule motor activity, plus-end-directed ATP-dependent microtubule motor activity, plus-end-directed  uc003awj.1 uc003awj.2 uc003awj.3 uc003awj.4 uc003awj.5 
ENST00000216071.5 C22orf31 ENST00000216071.5 Homo sapiens chromosome 22 open reading frame 31 (C22orf31), mRNA. (from RefSeq NM_015370) A0AV97 CV031_HUMAN ENST00000216071.1 ENST00000216071.2 ENST00000216071.3 ENST00000216071.4 NM_015370 O95567 uc003aej.1 uc003aej.2 uc003aej.3  uc003aej.1 uc003aej.2 uc003aej.3 
ENST00000216075.11 MIOX ENST00000216075.11 Homo sapiens myo-inositol oxygenase (MIOX), mRNA. (from RefSeq NM_017584) ALDRL6 ENST00000216075.1 ENST00000216075.10 ENST00000216075.2 ENST00000216075.3 ENST00000216075.4 ENST00000216075.5 ENST00000216075.6 ENST00000216075.7 ENST00000216075.8 ENST00000216075.9 KSP32 MIOX_HUMAN NM_017584 Q05DJ6 Q5S8C9 Q9BZZ1 Q9UGB7 Q9UHB8 RSOR uc003bll.1 uc003bll.2 uc003bll.3 Myo-inositol + O(2) = D-glucuronate + H(2)O. Binds 2 iron ions per subunit. Polyol metabolism; myo-inositol degradation into D- glucuronate; D-glucuronate from myo-inositol: step 1/1. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UGB7-1; Sequence=Displayed; Name=2; IsoId=Q9UGB7-2; Sequence=VSP_041667, VSP_041668; Kidney specific. Belongs to the myo-inositol oxygenase family. aldo-keto reductase (NADP) activity iron ion binding cytoplasm cytosol ferric iron binding inclusion body oxidoreductase activity oxidoreductase activity, acting on NAD(P)H oxidoreductase activity, acting on single donors with incorporation of molecular oxygen inositol catabolic process inositol phosphate metabolic process metal ion binding inositol oxygenase activity oxidation-reduction process  uc003bll.1 uc003bll.2 uc003bll.3 
ENST00000216080.5 LMF2 ENST00000216080.5 Homo sapiens lipase maturation factor 2 (LMF2), transcript variant 2, mRNA. (from RefSeq NM_001363816) A6NEZ0 ENST00000216080.1 ENST00000216080.2 ENST00000216080.3 ENST00000216080.4 LMF2_HUMAN NM_001363816 Q13392 Q6ZNR2 Q8WU74 Q96C62 Q9BU23 TMEM112B TMEM153 uc003blo.1 uc003blo.2 uc003blo.3 Involved in the maturation of specific proteins in the endoplasmic reticulum. May be required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BU23-1; Sequence=Displayed; Name=2; IsoId=Q9BU23-2; Sequence=VSP_032254; Name=3; IsoId=Q9BU23-3; Sequence=VSP_032255; Note=No experimental confirmation available; Belongs to the lipase maturation factor family. Sequence=AAB03346.1; Type=Erroneous gene model prediction; Sequence=BAC85437.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; protein binding endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane protein maturation  uc003blo.1 uc003blo.2 uc003blo.3 
ENST00000216083.6 CBX6 ENST00000216083.6 Homo sapiens chromobox 6 (CBX6), transcript variant 2, mRNA. (from RefSeq NM_001303494) B0QXZ6 B0QXZ6_HUMAN ENST00000216083.1 ENST00000216083.2 ENST00000216083.3 ENST00000216083.4 ENST00000216083.5 NM_001303494 RP3-327J16.5-003 uc062eiy.1 nucleus  uc062eiy.1 
ENST00000216085.12 RHBDD3 ENST00000216085.12 Homo sapiens rhomboid domain containing 3 (RHBDD3), transcript variant 1, mRNA. (from RefSeq NM_012265) C22orf3 ENST00000216085.1 ENST00000216085.10 ENST00000216085.11 ENST00000216085.2 ENST00000216085.3 ENST00000216085.4 ENST00000216085.5 ENST00000216085.6 ENST00000216085.7 ENST00000216085.8 ENST00000216085.9 NM_012265 Q6I9X3 Q9UGQ7 Q9Y3P4 RHBD3_HUMAN uc003aeq.1 uc003aeq.2 uc003aeq.3 Membrane; Multi-pass membrane protein (Potential). Contains 1 UBA domain. MAPK cascade liver development regulation of acute inflammatory response serine-type endopeptidase activity proteolysis response to xenobiotic stimulus membrane integral component of membrane negative regulation of natural killer cell activation positive regulation of protein catabolic process regulation of protein secretion  uc003aeq.1 uc003aeq.2 uc003aeq.3 
ENST00000216099.13 APOBEC3D ENST00000216099.13 Homo sapiens apolipoprotein B mRNA editing enzyme catalytic subunit 3D (APOBEC3D), transcript variant 1, mRNA. (from RefSeq NM_152426) ABC3D_HUMAN ENST00000216099.1 ENST00000216099.10 ENST00000216099.11 ENST00000216099.12 ENST00000216099.2 ENST00000216099.3 ENST00000216099.4 ENST00000216099.5 ENST00000216099.6 ENST00000216099.7 ENST00000216099.8 ENST00000216099.9 NM_152426 Q5JZ91 Q7Z2N2 Q7Z2N5 Q7Z2N6 Q96AK3 uc003awt.1 uc003awt.2 uc003awt.3 uc003awt.4 uc003awt.5 uc003awt.6 This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC017022.1, SRR1803613.102281.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216099.13/ ENSP00000216099.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Probable DNA cytidine deaminase involved in foreign DNA clearance. May provide cellular innate resistance to a specific panel of genetic invaders including endogenous retroelements and a subset of viruses. Cytidine + H(2)O = uridine + NH(3). Zinc (By similarity). Expressed in lymphoid organs. Also detected in non-lymphoid tissues including lung. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Belongs to the cytidine and deoxycytidylate deaminase family. P-body immune system process RNA binding catalytic activity cytidine deaminase activity nucleus cytoplasm zinc ion binding cytidine deamination negative regulation of transposition cytidine to uridine editing hydrolase activity innate immune response negative regulation of single stranded viral RNA replication via double stranded DNA intermediate metal ion binding deoxycytidine deaminase activity defense response to virus DNA cytosine deamination DNA demethylation  uc003awt.1 uc003awt.2 uc003awt.3 uc003awt.4 uc003awt.5 uc003awt.6 
ENST00000216101.7 RASL10A ENST00000216101.7 Homo sapiens RAS like family 10 member A (RASL10A), mRNA. (from RefSeq NM_006477) ENST00000216101.1 ENST00000216101.2 ENST00000216101.3 ENST00000216101.4 ENST00000216101.5 ENST00000216101.6 NM_006477 Q49AU5 Q6PI03 Q92737 RRP22 RSLAA_HUMAN uc003aff.1 uc003aff.2 uc003aff.3 uc003aff.4 uc003aff.5 Potent inhibitor of cellular proliferation. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Nucleus, nucleolus. Note=May cycle in and out of the nucleolus in a GTP-dependent manner. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92737-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q92737-2; Sequence=VSP_013372; Expression appears to be strictly limited to the central nervous system. Isoprenylation is essential for nucleolar localization, and the proliferation-inhibiting activity of RASL10A. Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity GTP binding nucleus nucleolus plasma membrane signal transduction small GTPase mediated signal transduction membrane  uc003aff.1 uc003aff.2 uc003aff.3 uc003aff.4 uc003aff.5 
ENST00000216106.6 HMGXB4 ENST00000216106.6 Homo sapiens HMG-box containing 4 (HMGXB4), transcript variant 3, mRNA. (from RefSeq NM_001362972) ENST00000216106.1 ENST00000216106.2 ENST00000216106.3 ENST00000216106.4 ENST00000216106.5 HMG2L1 HMGBCG HMGX4_HUMAN NM_001362972 O75672 O75673 Q9UGU5 Q9UMT5 uc003anl.1 uc003anl.2 uc003anl.3 uc003anl.4 uc003anl.5 High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]. Negatively regulates Wnt/beta-catenin signaling during development (By similarity). Nucleus (Potential). Contains 1 HMG box DNA-binding domain. DNA binding nucleus endosome to lysosome transport Wnt signaling pathway NURF complex negative regulation of Wnt signaling pathway  uc003anl.1 uc003anl.2 uc003anl.3 uc003anl.4 uc003anl.5 
ENST00000216115.3 BIK ENST00000216115.3 Homo sapiens BCL2 interacting killer (BIK), mRNA. (from RefSeq NM_001197) BIK_HUMAN ENST00000216115.1 ENST00000216115.2 NBK NM_001197 Q13323 Q16582 Q6FH93 uc003bdk.1 uc003bdk.2 uc003bdk.3 uc003bdk.4 The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.81286.1, SRR1163657.62147.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216115.3/ ENSP00000216115.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX. Interacts with RHBDL4/RHBDD1. P10415:BCL2; NbExp=3; IntAct=EBI-700794, EBI-77694; Q07817:BCL2L1; NbExp=2; IntAct=EBI-700794, EBI-78035; Q07817-1:BCL2L1; NbExp=3; IntAct=EBI-700794, EBI-287195; Q92843:BCL2L2; NbExp=2; IntAct=EBI-700794, EBI-707714; Endomembrane system; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein (By similarity). Note=Around the nuclear envelope, and in cytoplasmic membranes. Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti-apoptotic members of the Bcl-2 family. Proteolytically cleaved by RHBDL4/RHBDD1. RHBDL4/RHBDD1- induced cleavage is a necessary step prior its degradation by the proteosome-dependent mechanism. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bik/"; protein binding mitochondrion apoptotic process male gonad development apoptotic mitochondrial changes endomembrane system membrane integral component of membrane positive regulation of protein complex assembly mitochondrial membrane regulation of apoptotic process positive regulation of release of cytochrome c from mitochondria  uc003bdk.1 uc003bdk.2 uc003bdk.3 uc003bdk.4 
ENST00000216117.9 HMOX1 ENST00000216117.9 Homo sapiens heme oxygenase 1 (HMOX1), mRNA. (from RefSeq NM_002133) ENST00000216117.1 ENST00000216117.2 ENST00000216117.3 ENST00000216117.4 ENST00000216117.5 ENST00000216117.6 ENST00000216117.7 ENST00000216117.8 NM_002133 Q6FH11 Q6FH11_HUMAN hCG_40033 uc003ant.1 uc003ant.2 uc003ant.3 uc003ant.4 Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1099521.1, X06985.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216117.9/ ENSP00000216117.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## angiogenesis response to hypoxia heme oxygenase (decyclizing) activity phospholipase D activity nucleus nucleolus endoplasmic reticulum cytosol caveola heme oxidation response to oxidative stress small GTPase mediated signal transduction regulation of blood pressure cell death negative regulation of cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of muscle cell apoptotic process membrane integral component of membrane positive regulation of macroautophagy negative regulation of macroautophagy enzyme binding heme binding cellular response to nutrient negative regulation of mast cell cytokine production regulation of transcription from RNA polymerase II promoter in response to iron intracellular signal transduction heme catabolic process heme metabolic process response to hydrogen peroxide positive regulation of apoptotic process negative regulation of mast cell degranulation negative regulation of DNA binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of neuron apoptotic process regulation of transcription from RNA polymerase II promoter in response to oxidative stress response to estrogen positive regulation of angiogenesis metal ion binding negative regulation of smooth muscle cell proliferation regulation of sequence-specific DNA binding transcription factor activity oxidation-reduction process cellular response to arsenic-containing substance cellular response to cadmium ion cellular response to cisplatin liver regeneration negative regulation of epithelial cell apoptotic process negative regulation of vascular smooth muscle cell proliferation  uc003ant.1 uc003ant.2 uc003ant.3 uc003ant.4 
ENST00000216121.12 NIPSNAP1 ENST00000216121.12 Homo sapiens nipsnap homolog 1 (NIPSNAP1), transcript variant 1, mRNA. (from RefSeq NM_003634) B2RAY3 ENST00000216121.1 ENST00000216121.10 ENST00000216121.11 ENST00000216121.2 ENST00000216121.3 ENST00000216121.4 ENST00000216121.5 ENST00000216121.6 ENST00000216121.7 ENST00000216121.8 ENST00000216121.9 NIPS1_HUMAN NM_003634 O43800 Q9BPW8 uc003afx.1 uc003afx.2 uc003afx.3 uc003afx.4 uc003afx.5 uc003afx.6 This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]. Ubiquitous. Highest expression in liver. Belongs to the NipSnap family. protein binding mitochondrion membrane sensory perception of pain neurotransmitter binding synaptic membrane  uc003afx.1 uc003afx.2 uc003afx.3 uc003afx.4 uc003afx.5 uc003afx.6 
ENST00000216122.9 MCM5 ENST00000216122.9 Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA. (from RefSeq NM_006739) CDC46 ENST00000216122.1 ENST00000216122.2 ENST00000216122.3 ENST00000216122.4 ENST00000216122.5 ENST00000216122.6 ENST00000216122.7 ENST00000216122.8 MCM5_HUMAN NM_006739 O60785 P33992 Q14578 Q9BTJ4 Q9BWL8 uc003anu.1 uc003anu.2 uc003anu.3 uc003anu.4 uc003anu.5 uc003anu.6 The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.22654.1, SRR1803614.45180.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216122.9/ ENSP00000216122.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Interacts with MCMBP. ATP + H(2)O = ADP + phosphate. Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6- MCM4-MCM7-MCM3-MCM5 (By simililarity). P62805:HIST2H4B; NbExp=2; IntAct=EBI-359410, EBI-302023; P49736:MCM2; NbExp=4; IntAct=EBI-359410, EBI-374819; P25205:MCM3; NbExp=3; IntAct=EBI-359410, EBI-355153; Nucleus. Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. The MCM2-7 hexamer is the proposed physiological active complex. Belongs to the MCM family. Contains 1 MCM domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mcm5/"; G1/S transition of mitotic cell cycle nucleotide binding double-strand break repair via break-induced replication nuclear chromosome, telomeric region DNA binding DNA helicase activity DNA replication origin binding single-stranded DNA binding helicase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol DNA replication pre-replicative complex assembly involved in nuclear cell cycle DNA replication DNA replication initiation cell cycle membrane hydrolase activity DNA duplex unwinding MCM complex single-stranded DNA-dependent ATP-dependent DNA helicase activity 3'-5' DNA helicase activity  uc003anu.1 uc003anu.2 uc003anu.3 uc003anu.4 uc003anu.5 uc003anu.6 
ENST00000216124.10 ARSA ENST00000216124.10 Homo sapiens arylsulfatase A (ARSA), transcript variant 4, mRNA. (from RefSeq NM_001085427) A0A0C4DFZ2 ENST00000216124.1 ENST00000216124.2 ENST00000216124.3 ENST00000216124.4 ENST00000216124.5 ENST00000216124.6 ENST00000216124.7 ENST00000216124.8 ENST00000216124.9 NM_001085427 uc021wse.1 uc021wse.2 uc021wse.3 The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010].  uc021wse.1 uc021wse.2 uc021wse.3 
ENST00000216127.5 RASD2 ENST00000216127.5 Homo sapiens RASD family member 2 (RASD2), transcript variant 1, mRNA. (from RefSeq NM_014310) ENST00000216127.1 ENST00000216127.2 ENST00000216127.3 ENST00000216127.4 NM_014310 O95520 Q5THY8 Q96D21 RHES_HUMAN TEM2 uc003anx.1 uc003anx.2 uc003anx.3 uc003anx.4 uc003anx.5 This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC013419.2, SRR1803615.228277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216127.5/ ENSP00000216127.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination. Monomer (Potential). Interacts with PIK3CA and UBE2I (By similarity). Interacts with GNB1, GNB2 and GNB3. Interacts with HTT; interacts with mutant HTT (mHTT) with a much higher affinity than wild type HTT. Cell membrane; Lipid-anchor (By similarity). Pancreatic endocrine cells (islets of Langerhans). Farnesylated. Farnesylation is required for membrane targeting (By similarity). Reduces cell survival in striatal cells with Huntington disease by binding to mutant Huntington disease protein (mHTT; poly-Gln region with 82 repeats) and inducing sumoylation of mHTT. Belongs to the small GTPase superfamily. RasD family. Sequence=AAG00868.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding synaptic transmission, dopaminergic GTPase activity GTP binding plasma membrane signal transduction locomotory behavior membrane negative regulation of protein ubiquitination ubiquitin conjugating enzyme binding G-protein beta-subunit binding positive regulation of protein sumoylation phosphatidylinositol 3-kinase binding regulation of cAMP-mediated signaling positive regulation of protein kinase B signaling  uc003anx.1 uc003anx.2 uc003anx.3 uc003anx.4 uc003anx.5 
ENST00000216129.7 TTLL12 ENST00000216129.7 Homo sapiens tubulin tyrosine ligase like 12 (TTLL12), mRNA. (from RefSeq NM_015140) ENST00000216129.1 ENST00000216129.2 ENST00000216129.3 ENST00000216129.4 ENST00000216129.5 ENST00000216129.6 KIAA0153 NM_015140 Q14166 Q20WK5 Q9UGU3 TTL12_HUMAN uc003bdq.1 uc003bdq.2 uc003bdq.3 uc003bdq.4 uc003bdq.5 Contains 1 TTL domain. nucleotide binding protein binding ATP binding cytoplasm cellular protein modification process regulation of mitotic cell cycle tubulin binding histone lysine methylation negative regulation of type I interferon-mediated signaling pathway H4K20me3 modified histone binding tubulin-tyrosine ligase activity histone-lysine N-methyltransferase activity regulation of histone H4-K20 methylation  uc003bdq.1 uc003bdq.2 uc003bdq.3 uc003bdq.4 uc003bdq.5 
ENST00000216133.10 CBX7 ENST00000216133.10 Homo sapiens chromobox 7 (CBX7), transcript variant 1, mRNA. (from RefSeq NM_175709) CBX7_HUMAN ENST00000216133.1 ENST00000216133.2 ENST00000216133.3 ENST00000216133.4 ENST00000216133.5 ENST00000216133.6 ENST00000216133.7 ENST00000216133.8 ENST00000216133.9 NM_175709 O95931 Q86T17 uc003axb.1 uc003axb.2 uc003axb.3 uc003axb.4 uc003axb.5 This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control the lifespan of several normal human cells. [provided by RefSeq, Oct 2016]. Component of a Polycomb group (PcG) multiprotein PRC1- like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Promotes histone H3 trimethylation at 'Lys-9' (H3K9me3). Binds to trimethylated lysine residues in histones, and possibly also other proteins. Regulator of cellular lifespan by maintaining the repression of CDKN2A, but not by inducing telomerase activity. Component of a PRC1-like complex. Interacts with RING1 and RNF2/RING1B, but not with BMI1, EED or EZH2. Interacts with PCGF1, PCGF2, PCGF3, PCGF5 and PCGF6. P35226:BMI1; NbExp=5; IntAct=EBI-3923843, EBI-2341576; P35227:PCGF2; NbExp=3; IntAct=EBI-3923843, EBI-2129767; Q3KNV8:PCGF3; NbExp=2; IntAct=EBI-3923843, EBI-2339807; Q9BYE7:PCGF6; NbExp=2; IntAct=EBI-3923843, EBI-1048026; Q06587:RING1; NbExp=3; IntAct=EBI-3923843, EBI-752313; Q99496:RNF2; NbExp=3; IntAct=EBI-3923843, EBI-722416; Nucleus. The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nulear localizations, contribute differently to transcriptional repression, and appear to be part of distinct PRC1-like protein complexes. Contains 1 chromo domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin protein binding nucleus nucleoplasm cytosol chromatin organization PcG protein complex PRC1 complex  uc003axb.1 uc003axb.2 uc003axb.3 uc003axb.4 uc003axb.5 
ENST00000216139.10 ACR ENST00000216139.10 Homo sapiens acrosin (ACR), mRNA. (from RefSeq NM_001097) ACRO_HUMAN ACRS ENST00000216139.1 ENST00000216139.2 ENST00000216139.3 ENST00000216139.4 ENST00000216139.5 ENST00000216139.6 ENST00000216139.7 ENST00000216139.8 ENST00000216139.9 NM_001097 P10323 Q6ICK2 uc003bnh.1 uc003bnh.2 uc003bnh.3 uc003bnh.4 uc003bnh.5 uc003bnh.6 Acrosin is the major proteinase present in the acrosome of mature spermatozoa. It is a typical serine proteinase with trypsin-like specificity. It is stored in the acrosome in its precursor form, proacrosin. The active enzyme functions in the lysis of the zona pellucida, thus facilitating penetration of the sperm through the innermost glycoprotein layers of the ovum. The mRNA for proacrosin is synthesized only in the postmeiotic stages of spermatogenesis. In humans proacrosin first appears in the haploid spermatids. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y00970.1, CR456366.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216139.10/ ENSP00000216139.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acrosin is the major protease of mammalian spermatozoa. It is a serine protease of trypsin-like cleavage specificity, it is synthesized in a zymogen form, proacrosin and stored in the acrosome. Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa. Inhibited by SERPINA5. Heavy chain (catalytic) and a light chain linked by two disulfide bonds. Forms heterodimer with SERPINA5. Belongs to the peptidase S1 family. Contains 1 peptidase S1 domain. acrosomal vesicle protease binding acrosome matrix dispersal DNA binding amidase activity serine-type endopeptidase activity copper ion binding protein binding mannose binding extracellular region nucleus Golgi-associated vesicle proteolysis activation of adenylate cyclase activity single fertilization binding of sperm to zona pellucida acrosome reaction penetration of zona pellucida drug binding peptidase activity serine-type peptidase activity zinc ion binding hydrolase activity protein catabolic process macromolecular complex fucose binding acrosomal matrix response to steroid hormone  uc003bnh.1 uc003bnh.2 uc003bnh.3 uc003bnh.4 uc003bnh.5 uc003bnh.6 
ENST00000216144.4 CABP7 ENST00000216144.4 Homo sapiens calcium binding protein 7 (CABP7), mRNA. (from RefSeq NM_182527) CABP7_HUMAN CALN2 ENST00000216144.1 ENST00000216144.2 ENST00000216144.3 NM_182527 Q86V35 uc003agl.1 uc003agl.2 uc003agl.3 uc003agl.4 uc003agl.5 Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity (By similarity). Interacts with PI4KB. This binding competes with FREQ/NCS1 binding in a calcium-dependent manner (By similarity). Golgi apparatus, trans-Golgi network membrane; Single-pass type IV membrane protein (Probable). Cytoplasm, perinuclear region. Cell membrane; Single-pass type IV membrane protein (Probable). The C-terminal transmembrane domain (TMD) is necessary and sufficient for membrane targeting. Contains 2 EF-hand domains. calcium ion binding cytoplasm Golgi apparatus plasma membrane membrane integral component of membrane trans-Golgi network membrane metal ion binding perinuclear region of cytoplasm  uc003agl.1 uc003agl.2 uc003agl.3 uc003agl.4 uc003agl.5 
ENST00000216146.9 RPL3 ENST00000216146.9 Homo sapiens ribosomal protein L3 (RPL3), transcript variant 2, mRNA. (from RefSeq NM_001033853) B2RDV9 ENST00000216146.1 ENST00000216146.2 ENST00000216146.3 ENST00000216146.4 ENST00000216146.5 ENST00000216146.6 ENST00000216146.7 ENST00000216146.8 NM_001033853 OK/SW-cl.32 P39023 Q15548 Q5I0G0 RL3_HUMAN uc003axi.1 uc003axi.2 uc003axi.3 uc003axi.4 uc003axi.5 Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this gene's introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. The L3 protein is a component of the large subunit of cytoplasmic ribosomes. Nucleus, nucleolus. Cytoplasm. Belongs to the ribosomal protein L3P family. ribosomal large subunit assembly nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding structural constituent of ribosome protein binding nucleus nucleolus cytoplasm cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane 5S rRNA binding viral transcription cytosolic large ribosomal subunit macromolecular complex synapse extracellular exosome cellular response to interleukin-4  uc003axi.1 uc003axi.2 uc003axi.3 uc003axi.4 uc003axi.5 
ENST00000216155.11 SYNGR1 ENST00000216155.11 synaptogyrin 1 (from HGNC SYNGR1) A2A283 A2A283_HUMAN AB209372 ENST00000216155.1 ENST00000216155.10 ENST00000216155.2 ENST00000216155.3 ENST00000216155.4 ENST00000216155.5 ENST00000216155.6 ENST00000216155.7 ENST00000216155.8 ENST00000216155.9 RP3-333H23.3-006 uc062ekx.1 membrane integral component of membrane  uc062ekx.1 
ENST00000216160.11 TAB1 ENST00000216160.11 Homo sapiens TGF-beta activated kinase 1 (MAP3K7) binding protein 1 (TAB1), transcript variant alpha, mRNA. (from RefSeq NM_006116) ENST00000216160.1 ENST00000216160.10 ENST00000216160.2 ENST00000216160.3 ENST00000216160.4 ENST00000216160.5 ENST00000216160.6 ENST00000216160.7 ENST00000216160.8 ENST00000216160.9 MAP3K7IP1 NM_006116 Q15750 Q2PP09 Q8IZW2 TAB1_HUMAN uc003axt.1 uc003axt.2 uc003axt.3 uc003axt.4 uc003axt.5 The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. May be an important signaling intermediate between TGFB receptors and MAP3K7/TAK1. May play an important role in mammalian embryogenesis. Interacts with XIAP and BIRC7. Interacts with TRAF6 and MAP3K7; during IL-1 signaling. Identified in the TRIKA2 complex composed of MAP3K7, TAB1 and TAB2. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=TAB1alpha; IsoId=Q15750-1; Sequence=Displayed; Name=2; Synonyms=TAB1beta; IsoId=Q15750-2; Sequence=VSP_042024; Note=Does not bind nor activate MAP3K7/TAK1; Ubiquitous. Monoubiquitinated. Deubiquitinated by Y.enterocolitica YopP. Contains 1 PP2C-like domain. activation of MAPKKK activity activation of MAPK activity in utero embryonic development stimulatory C-type lectin receptor signaling pathway MyD88-dependent toll-like receptor signaling pathway heart morphogenesis cardiac septum development catalytic activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity protein binding nucleus cytosol protein dephosphorylation transforming growth factor beta receptor signaling pathway I-kappaB kinase/NF-kappaB signaling JNK cascade enzyme activator activity endosome membrane protein deubiquitination nuclear speck kinase activator activity lung development macromolecular complex aorta development Fc-epsilon receptor signaling pathway positive regulation of MAP kinase activity macromolecular complex binding mitogen-activated protein kinase p38 binding positive regulation of NF-kappaB transcription factor activity coronary vasculature development nucleotide-binding oligomerization domain containing signaling pathway interleukin-1-mediated signaling pathway  uc003axt.1 uc003axt.2 uc003axt.3 uc003axt.4 uc003axt.5 
ENST00000216177.9 PNPLA5 ENST00000216177.9 Homo sapiens patatin like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA. (from RefSeq NM_138814) B1AHL8 B3KPR1 ENST00000216177.1 ENST00000216177.2 ENST00000216177.3 ENST00000216177.4 ENST00000216177.5 ENST00000216177.6 ENST00000216177.7 ENST00000216177.8 GS2L NM_138814 PLPL5_HUMAN Q6ZST0 Q7Z6Z6 uc062eyk.1 uc062eyk.2 This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]. Lipid hydrolase (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z6Z6-1; Sequence=Displayed; Name=2; IsoId=Q7Z6Z6-2; Sequence=VSP_026373; Expressed in brain and pituitary gland. No differential expression during adipocyte differentiation. Contains 1 patatin domain. triglyceride lipase activity cytoplasm lipid particle cytosol lipid metabolic process membrane lipid catabolic process hydrolase activity triglyceride catabolic process lipid homeostasis  uc062eyk.1 uc062eyk.2 
ENST00000216180.8 PNPLA3 ENST00000216180.8 Homo sapiens patatin like phospholipase domain containing 3 (PNPLA3), mRNA. (from RefSeq NM_025225) ADPN B0QYI0 B2RCL3 B3KW00 C22orf20 ENST00000216180.1 ENST00000216180.2 ENST00000216180.3 ENST00000216180.4 ENST00000216180.5 ENST00000216180.6 ENST00000216180.7 NM_025225 PLPL3_HUMAN Q6P1A1 Q96CB4 Q9NST1 uc003bei.1 uc003bei.2 The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK315166.1, AL138578.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216180.8/ ENSP00000216180.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Glycerolipid metabolism; triacylglycerol degradation. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NST1-1; Sequence=Displayed; Name=2; IsoId=Q9NST1-2; Sequence=VSP_036222; Note=No experimental confirmation available; By changes in energy balance: down-regulated following very low-calorie diet, whereas refeeding elevates the mRNA level. Polymorphic variation at position 148 influences insulin secretion levels and obesity. In obese subjects the body mass index and waist are higher in carriers of the Ile-148 allele. The Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test. Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index. Genetic variations in PNPLA3 are a cause of susceptibility to non-alcoholic fatty liver disease type 1 (NAFLD1) [MIM:613282]. A condition characterized by an accumulation of excess triglyceride in the liver, a condition known as hepatic steatosis (or fatty liver), which is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. Contains 1 patatin domain. long-chain fatty acid metabolic process 1-acylglycerol-3-phosphate O-acyltransferase activity phospholipase A2 activity triglyceride lipase activity cytoplasm endoplasmic reticulum membrane lipid particle lipid metabolic process glycerophospholipid metabolic process phosphatidic acid biosynthetic process phospholipid biosynthetic process membrane integral component of membrane lipid catabolic process transferase activity transferase activity, transferring acyl groups hydrolase activity triglyceride biosynthetic process triglyceride catabolic process lipid particle organization lysophosphatidic acid binding long-chain fatty acyl-CoA binding triglyceride acyl-chain remodeling acylglycerol acyl-chain remodeling lysophosphatidic acid acyltransferase activity mono-olein transacylation activity diolein transacylation activity lipid homeostasis  uc003bei.1 uc003bei.2 
ENST00000216181.11 MYH9 ENST00000216181.11 Homo sapiens myosin heavy chain 9 (MYH9), mRNA. (from RefSeq NM_002473) ENST00000216181.1 ENST00000216181.10 ENST00000216181.2 ENST00000216181.3 ENST00000216181.4 ENST00000216181.5 ENST00000216181.6 ENST00000216181.7 ENST00000216181.8 ENST00000216181.9 MYH9_HUMAN NM_002473 O60805 P35579 Q86T83 uc003apg.1 uc003apg.2 uc003apg.3 uc003apg.4 uc003apg.5 uc003apg.6 This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB191263.1, AB290175.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216181.11/ ENSP00000216181.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Interacts with PDLIM2 (By similarity). Interacts with SLC6A4 (By similarity). Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with RASIP1. Interacts with DDR1 (By similarity). Interacts with SVIL and HTRA3. P61073:CXCR4; NbExp=5; IntAct=EBI-350338, EBI-489411; O00255:MEN1; NbExp=7; IntAct=EBI-350338, EBI-592789; P19338:NCL; NbExp=3; IntAct=EBI-350338, EBI-346967; Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35579-1; Sequence=Displayed; Name=2; IsoId=P35579-2; Sequence=VSP_035409, VSP_035410; In the kidney, expressed in the glomeruli. Also expressed in leukocytes. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. ISGylated. Defects in MYH9 are the cause of May-Hegglin anomaly (MHA) [MIM:155100]. MHA is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukokyte inclusions appearing as highly parallel paracrystalline bodies. Defects in MYH9 are the cause of Sebastian syndrome (SBS) [MIM:605249]. SBS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly. Defects in MYH9 are the cause of Fechtner syndrome (FTNS) [MIM:153640]. FTNS is an autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. Defects in MYH9 are the cause of Alport syndrome with macrothrombocytopenia (APSM) [MIM:153650]. APSM is an autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. Defects in MYH9 are the cause of Epstein syndrome (EPS) [MIM:153650]. EPS is an autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. Defects in MYH9 are the cause of deafness autosomal dominant type 17 (DFNA17) [MIM:603622]. DFNA17 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA17 is characterized by progressive hearing impairment and cochleosaccular degeneration. Defects in MYH9 are the cause of macrothrombocytopenia with progressive sensorineural deafness (MPSD) [MIM:600208]. MPSD is an autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. Note=Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9- related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures. Note=Genetic variations in MYH9 are associated with non- diabetic end stage renal disease (ESRD). Contains 1 IQ domain. Contains 1 myosin head-like domain. Sequence=CAD89954.1; Type=Frameshift; Positions=1890; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYH9ID481.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH9"; microfilament motor activity nucleotide binding meiotic spindle organization cell morphogenesis involved in differentiation angiogenesis in utero embryonic development stress fiber ruffle establishment of T cell polarity immunological synapse plasma membrane repair uropod RNA binding motor activity actin binding integrin binding protein binding calmodulin binding ATP binding nucleus cytoplasm spindle actomyosin contractile ring cytosol cytoskeleton plasma membrane brush border cell-cell adherens junction focal adhesion cell cortex membrane protein ectodomain proteolysis phagocytosis, engulfment cell adhesion integrin-mediated signaling pathway myoblast fusion regulation of cell shape protein transport actin cytoskeleton membrane myosin complex myosin II complex ATPase activity protein domain specific binding actin filament-based movement platelet formation monocyte differentiation cortical cytoskeleton actin-dependent ATPase activity actomyosin structure organization cell leading edge actin cytoskeleton reorganization neuromuscular junction cleavage furrow lysosome localization cytokinetic process uropod organization macromolecular complex actomyosin protein homodimerization activity protein anchor ADP binding blood vessel endothelial cell migration regulated exocytosis cadherin binding leukocyte migration actin filament binding establishment of meiotic spindle localization extracellular exosome platelet aggregation myosin II filament cell-cell adhesion negative regulation of actin filament severing positive regulation of protein processing in phagocytic vesicle regulation of plasma membrane repair COP9 signalosome  uc003apg.1 uc003apg.2 uc003apg.3 uc003apg.4 uc003apg.5 uc003apg.6 
ENST00000216185.7 TXN2 ENST00000216185.7 Homo sapiens thioredoxin 2 (TXN2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012473) ENST00000216185.1 ENST00000216185.2 ENST00000216185.3 ENST00000216185.4 ENST00000216185.5 ENST00000216185.6 NM_012473 Q5JZA0 Q6FH60 Q99757 Q9UH29 THIOM_HUMAN TRX2 uc003apk.1 uc003apk.2 uc003apk.3 This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1074468.1, SRR3476690.1132764.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152474, SAMEA2152568 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000216185.7/ ENSP00000216185.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Has an anti-apoptotic function and plays an important role in the regulation of mitochondrial membrane potential. Could be involved in the resistance to anti-tumor agents. Possesses a dithiol-reducing activity. Monomer. Mitochondrion. Widely expressed in adult (at protein level) and fetal tissues. Belongs to the thioredoxin family. Contains 1 thioredoxin domain. sulfur amino acid catabolic process response to hypoxia protein binding nucleolus mitochondrion mitochondrial matrix glycerol ether metabolic process response to oxidative stress peptide-methionine (S)-S-oxide reductase activity response to hormone response to glucose response to organic cyclic compound protein disulfide oxidoreductase activity dendrite cellular response to nutrient levels peptide-methionine (R)-S-oxide reductase activity response to drug neuronal cell body macromolecular complex binding cell redox homeostasis response to axon injury oxidation-reduction process  uc003apk.1 uc003apk.2 uc003apk.3 
ENST00000216187.10 FOXRED2 ENST00000216187.10 Homo sapiens FAD dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. (from RefSeq NM_024955) B2RDI4 ENST00000216187.1 ENST00000216187.2 ENST00000216187.3 ENST00000216187.4 ENST00000216187.5 ENST00000216187.6 ENST00000216187.7 ENST00000216187.8 ENST00000216187.9 ERFAD FXRD2_HUMAN NM_024955 Q8IWF2 Q8N378 Q96BD1 Q9H5L5 Q9H6M8 uc003apo.1 uc003apo.2 uc003apo.3 uc003apo.4 uc003apo.5 Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation. FAD. Interacts with SEL1L. May interact with OS9 and DNAJC10. Endoplasmic reticulum lumen. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IWF2-1; Sequence=Displayed; Name=2; IsoId=Q8IWF2-2; Sequence=VSP_033997; Note=No experimental confirmation available; N-glycosylated. Belongs to the FOXRED2 family. protein binding endoplasmic reticulum endoplasmic reticulum lumen oxidoreductase activity ER-associated ubiquitin-dependent protein catabolic process flavin adenine dinucleotide binding oxidation-reduction process  uc003apo.1 uc003apo.2 uc003apo.3 uc003apo.4 uc003apo.5 
ENST00000216190.13 EIF3D ENST00000216190.13 Homo sapiens eukaryotic translation initiation factor 3 subunit D (EIF3D), transcript variant 2, non-coding RNA. (from RefSeq NR_156418) B2R7D4 EIF3D_HUMAN EIF3S7 ENST00000216190.1 ENST00000216190.10 ENST00000216190.11 ENST00000216190.12 ENST00000216190.2 ENST00000216190.3 ENST00000216190.4 ENST00000216190.5 ENST00000216190.6 ENST00000216190.7 ENST00000216190.8 ENST00000216190.9 NR_156418 O15371 Q3MJD9 Q5M9Q6 uc003apr.1 uc003apr.2 uc003apr.3 uc003apr.4 uc003apr.5 Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.157599.1, SRR7410570.685658.1 [ECO:0000332] ##Evidence-Data-END## Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Q9Q2G4:ORF (xeno); NbExp=5; IntAct=EBI-353818, EBI-6248094; Q8WV24:PHLDA1; NbExp=2; IntAct=EBI-353818, EBI-738731; Cytoplasm (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Mass=63972.9; Method=Unknown; Range=1-548; Source=PubMed:17322308; Mass=64046.7; Mass_error=1.4; Method=MALDI; Range=1-548; Source=PubMed:18599441; Belongs to the eIF-3 subunit D family. formation of cytoplasmic translation initiation complex cytoplasmic translational initiation cap-dependent translational initiation RNA binding translation initiation factor activity protein binding cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation membrane eukaryotic 43S preinitiation complex eukaryotic 48S preinitiation complex positive regulation of translation eukaryotic translation initiation factor 3 complex, eIF3m IRES-dependent viral translational initiation viral translational termination-reinitiation mRNA cap binding positive regulation of mRNA binding  uc003apr.1 uc003apr.2 uc003apr.3 uc003apr.4 uc003apr.5 
ENST00000216194.11 ADSL ENST00000216194.11 adenylosuccinate lyase (from HGNC ADSL) A0A0A6YY92 AK298187 ENST00000216194.1 ENST00000216194.10 ENST00000216194.2 ENST00000216194.3 ENST00000216194.4 ENST00000216194.5 ENST00000216194.6 ENST00000216194.7 ENST00000216194.8 ENST00000216194.9 uc062emw.1  uc062emw.1 
ENST00000216200.9 PVALB ENST00000216200.9 Homo sapiens parvalbumin (PVALB), transcript variant 1, mRNA. (from RefSeq NM_002854) B2R4H7 ENST00000216200.1 ENST00000216200.2 ENST00000216200.3 ENST00000216200.4 ENST00000216200.5 ENST00000216200.6 ENST00000216200.7 ENST00000216200.8 NM_002854 P20472 P78378 PRVA_HUMAN Q4VB78 Q5R3Q9 uc003apx.1 uc003apx.2 uc003apx.3 uc003apx.4 The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]. In muscle, parvalbumin is thought to be involved in relaxation after contraction. It binds two calcium ions. Mass=11927; Mass_error=0.76; Method=Electrospray; Range=2-110; Source=PubMed:10036163; Belongs to the parvalbumin family. Contains 2 EF-hand domains. calcium ion binding nucleus cytoplasm axon stereocilium cuticular plate macromolecular complex protein homodimerization activity neuronal cell body metal ion binding protein heterodimerization activity cochlea development  uc003apx.1 uc003apx.2 uc003apx.3 uc003apx.4 
ENST00000216211.9 UPK3A ENST00000216211.9 Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. (from RefSeq NM_006953) B0QY25 ENST00000216211.1 ENST00000216211.2 ENST00000216211.3 ENST00000216211.4 ENST00000216211.5 ENST00000216211.6 ENST00000216211.7 ENST00000216211.8 NM_006953 O60261 O75631 Q32N05 Q5TII6 UPK3 UPK3A_HUMAN uc003bfy.1 uc003bfy.2 uc003bfy.3 uc003bfy.4 uc003bfy.5 This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]. Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity). Heterodimer with uroplakin-1B (UPK1B) (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER) (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75631-1; Sequence=Displayed; Name=2; IsoId=O75631-2; Sequence=VSP_030004; Expressed in ureter. Defects in UPK3A are a cause of renal adysplasia (RADYS) [MIM:191830]; also known as renal agenesis or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral) kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral dysplasia and severe obstructive uropathy. Belongs to the uroplakin-3 family. cell morphogenesis kidney development protein binding endoplasmic reticulum endoplasmic reticulum membrane water transport urea transport membrane integral component of membrane apical plasma membrane epithelial cell differentiation potassium ion homeostasis sodium ion homeostasis urinary bladder development extracellular exosome  uc003bfy.1 uc003bfy.2 uc003bfy.3 uc003bfy.4 uc003bfy.5 
ENST00000216214.7 FAM118A ENST00000216214.7 Homo sapiens family with sequence similarity 118 member A (FAM118A), transcript variant 7, non-coding RNA. (from RefSeq NR_146323) B3KWG4 C22orf8 ENST00000216214.1 ENST00000216214.2 ENST00000216214.3 ENST00000216214.4 ENST00000216214.5 ENST00000216214.6 F118A_HUMAN NR_146323 Q5TII5 Q96CY3 Q9NWS6 uc003bfz.1 uc003bfz.2 uc003bfz.3 uc003bfz.4 uc003bfz.5 Membrane; Single-pass membrane protein (Potential). Belongs to the FAM118 family. protein binding membrane integral component of membrane identical protein binding  uc003bfz.1 uc003bfz.2 uc003bfz.3 uc003bfz.4 uc003bfz.5 
ENST00000216218.8 ST13 ENST00000216218.8 Homo sapiens ST13 Hsp70 interacting protein (ST13), transcript variant 1, mRNA. (from RefSeq NM_003932) AAG2 ENST00000216218.1 ENST00000216218.2 ENST00000216218.3 ENST00000216218.4 ENST00000216218.5 ENST00000216218.6 ENST00000216218.7 F10A1_HUMAN FAM10A1 HIP NM_003932 O14999 P50502 Q2TU77 SNC6 uc003aze.1 uc003aze.2 uc003aze.3 uc003aze.4 uc003aze.5 uc003aze.6 The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]. One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity). Homotetramer. Interacts with HSC70 as well as DNAJ homologs and HSP90 (By similarity). Interacts (via the C-terminus 303- 319 AA) with GRK5. P02649:APOE; NbExp=3; IntAct=EBI-357285, EBI-1222467; P29474:NOS3; NbExp=3; IntAct=EBI-357285, EBI-1391623; P49768:PSEN1; NbExp=3; IntAct=EBI-357285, EBI-297277; Cytoplasm (By similarity). Belongs to the FAM10 family. Contains 1 STI1 domain. Contains 3 TPR repeats. protein binding cytoplasm cytosol protein folding response to bacterium protein domain specific binding Hsp70 protein binding protein binding, bridging dATP binding macromolecular complex identical protein binding macromolecular complex binding protein dimerization activity unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding protein homooligomerization protein homotetramerization negative regulation of protein refolding extracellular exosome  uc003aze.1 uc003aze.2 uc003aze.3 uc003aze.4 uc003aze.5 uc003aze.6 
ENST00000216223.10 IL2RB ENST00000216223.10 Homo sapiens interleukin 2 receptor subunit beta (IL2RB), transcript variant 1, mRNA. (from RefSeq NM_000878) B2R765 ENST00000216223.1 ENST00000216223.2 ENST00000216223.3 ENST00000216223.4 ENST00000216223.5 ENST00000216223.6 ENST00000216223.7 ENST00000216223.8 ENST00000216223.9 IL2RB_HUMAN NM_000878 P14784 uc003aqv.1 uc003aqv.2 uc003aqv.3 The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]. Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Non-covalent dimer of an alpha and a beta subunit. IL2R exists in 3 different forms: a high affinity dimer, an intermediate affinity monomer (beta subunit), and a low affinity monomer (alpha subunit). The high and intermediate affinity forms also associate with a gamma subunit. Interacts with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I. Membrane; Single-pass type I membrane protein. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Belongs to the type I cytokine receptor family. Type 4 subfamily. Contains 1 fibronectin type-III domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il2rb/"; MAPK cascade cytokine receptor activity interleukin-2 receptor activity protein binding endosome cytosol plasma membrane integral component of plasma membrane interleukin-2 receptor complex signal transduction external side of plasma membrane cell surface membrane integral component of membrane viral process cytokine-mediated signaling pathway interleukin-2 binding interleukin-15-mediated signaling pathway interleukin-2-mediated signaling pathway interleukin-15 receptor activity negative regulation of apoptotic process positive regulation of phagocytosis macromolecular complex assembly  uc003aqv.1 uc003aqv.2 uc003aqv.3 
ENST00000216225.9 RBX1 ENST00000216225.9 Homo sapiens ring-box 1 (RBX1), mRNA. (from RefSeq NM_014248) B2RDY1 ENST00000216225.1 ENST00000216225.2 ENST00000216225.3 ENST00000216225.4 ENST00000216225.5 ENST00000216225.6 ENST00000216225.7 ENST00000216225.8 NM_014248 P62877 Q8N6Z8 Q9D1S2 Q9WUK9 Q9Y254 RBX1_HUMAN RNF75 ROC1 uc003azk.1 uc003azk.2 uc003azk.3 uc003azk.4 uc003azk.5 This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.60101.1, SRR1803614.52727.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216225.9/ ENSP00000216225.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## E3 ubiquitin ligase component of multiple cullin-RING- based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like CDC34, to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Protein modification; protein ubiquitination. Part of a SCF complex consisting of CUL1, RBX1, SKP1 and SKP2. Part of a SCF-like complex consisting of CUL7, RBX1, SKP1 and FBXW8. Part of CBC(VHL) complexes with elongin BC complex (TCEB1 and TCEB2), CUL2 or CUL5 and VHL. Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Part of multisubunit E3 ubiquitin ligase complexes with elongin BC complex (TCEB1 and TCEB2), CUL2 and MED8; elongin BC complex (TCEB1 and TCEB2), CUL5 and MUF1. Part of multisubunit complexes with elongin BC complex (TCEB1 and TCEB2), elongin A/TCEB3 or SOCS1 or WSB1 and CUL5. Interacts directly with CUL1 and probably also with CUL2, CUL3, CUL4A, CUL4B, CUL5 and CUL7. Probably interacts with CDC34. Interacts with COPS6. Component of the DCX DET1-COP1 ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Part of an E3 ligase complex composed of RBX1, DDB1, DDB2 and CUL4A or CUL4B. Interacts with UBE2M. Part of a SCF complex consisting of CUL1, FBXO3, RBX1 and SKP1; this complex interacts with PML via FBXO3. Interacts with human adenovirus early E1A protein; this interaction inhibits RBX1-CUL1-dependent elongation reaction of ubiquitin chains by the SCF(FBW7) complex. Component of the SCF(Cyclin F) complex consisting of CUL1, RBX1, SKP1 and CCNF. Q13616:CUL1; NbExp=12; IntAct=EBI-398523, EBI-359390; Q93034:CUL5; NbExp=3; IntAct=EBI-398523, EBI-1057139; Cytoplasm. Nucleus. Widely expressed. The RING-type zinc finger domain is essential for ubiquitin ligase activity. It coordinates an additional third zinc ion. Belongs to the RING-box family. Contains 1 RING-type zinc finger. Sequence=AAH17370.2; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RBX1ID42075ch22q13.html"; MAPK cascade protein polyubiquitination nucleotide-excision repair, DNA damage recognition nucleotide-excision repair, DNA duplex unwinding protein binding nucleus nucleoplasm cytoplasm cytosol DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion ubiquitin-dependent protein catabolic process protein monoubiquitination cellular response to DNA damage stimulus transcription factor binding zinc ion binding SCF complex assembly negative regulation of G2/M transition of mitotic cell cycle viral process Wnt signaling pathway protein ubiquitination transferase activity SCF ubiquitin ligase complex NEDD8 transferase activity protein catabolic process VCB complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex Cul2-RING ubiquitin ligase complex Cul3-RING ubiquitin ligase complex Cul4A-RING E3 ubiquitin ligase complex Cul4B-RING E3 ubiquitin ligase complex Cul5-RING ubiquitin ligase complex Cul7-RING ubiquitin ligase complex ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process nucleotide-excision repair, DNA incision ubiquitin-ubiquitin ligase activity DNA damage response, detection of DNA damage proteasome-mediated ubiquitin-dependent protein catabolic process nuclear SCF ubiquitin ligase complex post-translational protein modification macromolecular complex binding protein neddylation metal ion binding regulation of transcription from RNA polymerase II promoter in response to hypoxia ubiquitin protein ligase activity interleukin-1-mediated signaling pathway global genome nucleotide-excision repair Cul4-RING E3 ubiquitin ligase complex negative regulation of canonical Wnt signaling pathway cullin family protein binding ubiquitin-protein transferase activity  uc003azk.1 uc003azk.2 uc003azk.3 uc003azk.4 uc003azk.5 
ENST00000216237.10 L3MBTL2 ENST00000216237.10 Homo sapiens L3MBTL histone methyl-lysine binding protein 2 (L3MBTL2), mRNA. (from RefSeq NM_031488) ENST00000216237.1 ENST00000216237.2 ENST00000216237.3 ENST00000216237.4 ENST00000216237.5 ENST00000216237.6 ENST00000216237.7 ENST00000216237.8 ENST00000216237.9 LMBL2_HUMAN NM_031488 Q8TEN1 Q969R5 Q96SC4 Q9BQI2 Q9UGS4 uc003azo.1 uc003azo.2 uc003azo.3 uc003azo.4 uc003azo.5 Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27'. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, BAT8 and YAF2. Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=Q969R5-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q969R5-2; Sequence=VSP_003904, VSP_003905; Name=3; IsoId=Q969R5-3; Sequence=VSP_003906, VSP_003907; Contains 1 FCS-type zinc finger. Contains 4 MBT repeats. Sequence=BAB84917.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAC04936.1; Type=Miscellaneous discrepancy; Note=Intron retention; protein binding nucleus nucleoplasm chromatin organization regulation of transcription, DNA-templated zinc ion binding methylated histone binding histone binding metal ion binding negative regulation of G0 to G1 transition  uc003azo.1 uc003azo.2 uc003azo.3 uc003azo.4 uc003azo.5 
ENST00000216241.14 CHADL ENST00000216241.14 Homo sapiens chondroadherin like (CHADL), mRNA. (from RefSeq NM_138481) CHADL_HUMAN ENST00000216241.1 ENST00000216241.10 ENST00000216241.11 ENST00000216241.12 ENST00000216241.13 ENST00000216241.2 ENST00000216241.3 ENST00000216241.4 ENST00000216241.5 ENST00000216241.6 ENST00000216241.7 ENST00000216241.8 ENST00000216241.9 NM_138481 Q05CY2 Q4G0S0 Q5JY13 Q6NUI6 Q86XY1 Q96E60 SLRR4B uc003azq.1 uc003azq.2 uc003azq.3 uc003azq.4 uc003azq.5 uc003azq.6 Secreted, extracellular space, extracellular matrix (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NUI6-1; Sequence=Displayed; Name=2; IsoId=Q6NUI6-2; Sequence=VSP_027735; Note=No experimental confirmation available; Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class IV subfamily. Contains 19 LRR (leucine-rich) repeats. Contains 2 LRRCT domains. Contains 2 LRRNT domains. Sequence=AAH19839.1; Type=Frameshift; Positions=504; Sequence=AAH68590.1; Type=Erroneous initiation; collagen binding extracellular region extracellular space extracellular matrix structural constituent conferring compression resistance extracellular matrix negative regulation of chondrocyte differentiation collagen fibril binding negative regulation of collagen fibril organization  uc003azq.1 uc003azq.2 uc003azq.3 uc003azq.4 uc003azq.5 uc003azq.6 
ENST00000216252.4 PHF5A ENST00000216252.4 Homo sapiens PHD finger protein 5A (PHF5A), mRNA. (from RefSeq NM_032758) ENST00000216252.1 ENST00000216252.2 ENST00000216252.3 NM_032758 PHF5A_HUMAN Q7RTV0 Q9UH06 uc003bab.1 uc003bab.2 uc003bab.3 uc003bab.4 uc003bab.5 This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.132999.1, SRR1163658.184099.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467150 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216252.4/ ENSP00000216252.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER- alpha. Also involved in pre-mRNA splicing. Interacts (via N-terminus) with U2AF1 and SRSF5; acts to bridge the two. Interacts (via C-terminus) with EP400 and DDX1; acts to bridge the two (By similarity). Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B145, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B, SF3B10 and SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Component of the U11/U12 snRNPs that are part of the U12- type spliceosome. Nucleus (By similarity). Nucleus speckle (By similarity). Belongs to the PHF5 family. mRNA splicing, via spliceosome DNA binding transcription factor activity, sequence-specific DNA binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U2 snRNP U12-type spliceosomal complex mRNA processing RNA splicing nuclear matrix nuclear speck positive regulation of transcription, DNA-templated metal ion binding U2-type precatalytic spliceosome  uc003bab.1 uc003bab.2 uc003bab.3 uc003bab.4 uc003bab.5 
ENST00000216254.9 ACO2 ENST00000216254.9 Homo sapiens aconitase 2 (ACO2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001098) ACON_HUMAN ENST00000216254.1 ENST00000216254.2 ENST00000216254.3 ENST00000216254.4 ENST00000216254.5 ENST00000216254.6 ENST00000216254.7 ENST00000216254.8 NM_001098 O75809 Q5JZ41 Q6FHX0 Q8TAQ6 Q99798 uc003bac.1 uc003bac.2 uc003bac.3 uc003bac.4 The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.171951.1, SRR1660809.68762.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000216254.9/ ENSP00000216254.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity). Citrate = isocitrate. Binds 1 4Fe-4S cluster per subunit. Binding of a 3Fe-4S cluster leads to an inactive enzyme (By similarity). Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2. Monomer (By similarity). Mitochondrion (By similarity). Defects in ACO2 are the cause of infantile cerebellar- retinal degeneration (ICRD) [MIM:614559]. A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. Belongs to the aconitase/IPM isomerase family. Name=Wikipedia; Note=Aconitase entry; URL="http://en.wikipedia.org/wiki/Aconitase"; liver development aconitate hydratase activity iron ion binding mitochondrion mitochondrial matrix cytosol generation of precursor metabolites and energy tricarboxylic acid cycle citrate metabolic process isocitrate metabolic process lyase activity response to isolation stress metal ion binding iron-sulfur cluster binding 3 iron, 4 sulfur cluster binding 4 iron, 4 sulfur cluster binding  uc003bac.1 uc003bac.2 uc003bac.3 uc003bac.4 
ENST00000216259.8 PMM1 ENST00000216259.8 Homo sapiens phosphomannomutase 1 (PMM1), mRNA. (from RefSeq NM_002676) A8K003 ENST00000216259.1 ENST00000216259.2 ENST00000216259.3 ENST00000216259.4 ENST00000216259.5 ENST00000216259.6 ENST00000216259.7 NM_002676 PMM1_HUMAN PMMH22 Q92586 Q92871 uc003bal.1 uc003bal.2 uc003bal.3 uc003bal.4 Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.38470.1, SRR5189667.210396.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216259.8/ ENSP00000216259.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. Alpha-D-mannose 1-phosphate = D-mannose 6- phosphate. Magnesium. IMP, a metabolite whose concentration is elevated in anoxia, inhibits phosphomannomutase and phosphoglucomutase activities and strongly enhances glucose-1,6- bisphosphatase activity (By similarity). Kinetic parameters: KM=54 uM for alpha-D-mannose 1-phosphate; KM=7.5 uM for alpha-D-glucose 1-phosphate; Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6- phosphate: step 2/2. Homodimer. Cytoplasm. Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle. Belongs to the eukaryotic PMM family. phosphomannomutase activity protein binding cytoplasm cytosol mannose metabolic process protein N-linked glycosylation GDP-mannose biosynthetic process isomerase activity neuronal cell body protein targeting to ER metal ion binding cellular response to leukemia inhibitory factor  uc003bal.1 uc003bal.2 uc003bal.3 uc003bal.4 
ENST00000216264.13 CERK ENST00000216264.13 Homo sapiens ceramide kinase (CERK), mRNA. (from RefSeq NM_022766) A0JNT4 A8K611 CERK1_HUMAN ENST00000216264.1 ENST00000216264.10 ENST00000216264.11 ENST00000216264.12 ENST00000216264.2 ENST00000216264.3 ENST00000216264.4 ENST00000216264.5 ENST00000216264.6 ENST00000216264.7 ENST00000216264.8 ENST00000216264.9 KIAA1646 NM_022766 Q8TCT0 Q9BYB3 Q9UGE5 uc003bia.1 uc003bia.2 uc003bia.3 uc003bia.4 uc003bia.5 CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB079066.1, SRR1803616.221518.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216264.13/ ENSP00000216264.8 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate. Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines. Binds phosphoinositides. ATP + ceramide = ADP + ceramide 1-phosphate. Calcium. Magnesium. Inhibited by sulfatide. pH dependence: Optimum pH is 6.0-7.5; Cytoplasm. Membrane; Peripheral membrane protein. High level expression in heart, brain, skeletal muscle, kidney and liver; moderate in peripheral blood leukocytes and thymus; very low in spleen, small intestine, placenta and lung. Contains 1 DAGKc domain. nucleotide binding magnesium ion binding ceramide kinase activity NAD+ kinase activity protein binding ATP binding cytoplasm plasma membrane ceramide metabolic process glycosphingolipid metabolic process membrane integral component of membrane kinase activity phosphorylation transferase activity lipid phosphorylation  uc003bia.1 uc003bia.2 uc003bia.3 uc003bia.4 uc003bia.5 
ENST00000216267.12 BRD1 ENST00000216267.12 Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. (from UniProt O95696) A6ZJA4 BRD1_HUMAN BRL BRPF2 ENST00000216267.1 ENST00000216267.10 ENST00000216267.11 ENST00000216267.2 ENST00000216267.3 ENST00000216267.4 ENST00000216267.5 ENST00000216267.6 ENST00000216267.7 ENST00000216267.8 ENST00000216267.9 NM_001394552 O95696 uc003biv.1 uc003biv.2 uc003biv.3 uc003biv.4 Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts (via PHD-type zinc finger domain) with unmodified histone H3. Interacts (via PWWP domain) with dimethylated and trimethylated 'Lys-79' on histone H3. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95696-1; Sequence=Displayed; Name=2; IsoId=O95696-2; Sequence=VSP_040262; Highly expressed in testis. Contains 1 bromo domain. Contains 1 PHD-type zinc finger. Contains 1 PWWP domain. protein binding nucleus chromatin organization nuclear speck dendrite response to immobilization stress histone binding perikaryon histone H3 acetylation metal ion binding response to electrical stimulus MOZ/MORF histone acetyltransferase complex  uc003biv.1 uc003biv.2 uc003biv.3 uc003biv.4 
ENST00000216268.6 ZBED4 ENST00000216268.6 Homo sapiens zinc finger BED-type containing 4 (ZBED4), mRNA. (from RefSeq NM_014838) B2RZH1 ENST00000216268.1 ENST00000216268.2 ENST00000216268.3 ENST00000216268.4 ENST00000216268.5 KIAA0637 NM_014838 O75132 Q1ECU0 Q9UGG8 ZBED4_HUMAN uc003bix.1 uc003bix.2 uc003bix.3 uc003bix.4 Homodimer. Nucleus. Cytoplasm. Widely expressed with highest levels in testis, kidney and spinal cord and brain corpus callosum. Expressed in the retina, found in the cone photoreceptors, Mueller cells, cone pedicles and in the innermost retinal layer. Contains 4 BED-type zinc fingers. Sequence=BAA31612.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription from RNA polymerase II promoter metal ion binding protein dimerization activity  uc003bix.1 uc003bix.2 uc003bix.3 uc003bix.4 
ENST00000216271.10 HDAC10 ENST00000216271.10 Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. (from RefSeq NM_032019) ENST00000216271.1 ENST00000216271.2 ENST00000216271.3 ENST00000216271.4 ENST00000216271.5 ENST00000216271.6 ENST00000216271.7 ENST00000216271.8 ENST00000216271.9 HDA10_HUMAN NM_032019 Q08AP4 Q6STF9 Q969S8 Q96P77 Q96P78 Q9H028 Q9UGX1 Q9UGX2 uc003bkg.1 uc003bkg.2 uc003bkg.3 uc003bkg.4 uc003bkg.5 The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]. Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone. Interacts with HDAC2, HDAC3 and NCOR2. Cytoplasm. Nucleus. Note=Excluded from the nucleoli. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=B, Alpha; IsoId=Q969S8-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q969S8-2; Sequence=VSP_002089; Name=4; Synonyms=A; IsoId=Q969S8-4; Sequence=VSP_002090; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=5; IsoId=Q969S8-5; Sequence=VSP_014698, VSP_014699; Ubiquitous. High expression in liver, spleen, pancreas and kidney. Belongs to the histone deacetylase family. HD type 2 subfamily. histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter histone deacetylase activity protein binding nucleus nucleoplasm cytoplasm DNA repair DNA recombination chromatin organization regulation of transcription, DNA-templated protein deacetylation autophagy cellular response to DNA damage stimulus zinc ion binding oligodendrocyte development macroautophagy histone deacetylation hydrolase activity deacetylase activity enzyme binding positive regulation of mismatch repair protein deacetylase activity peptidyl-lysine deacetylation reciprocal DNA recombination histone deacetylase binding negative regulation of transcription, DNA-templated metal ion binding acetylputrescine deacetylase activity acetylspermidine deacetylase activity  uc003bkg.1 uc003bkg.2 uc003bkg.3 uc003bkg.4 uc003bkg.5 
ENST00000216274.10 RIPK3 ENST00000216274.10 Homo sapiens receptor interacting serine/threonine kinase 3 (RIPK3), mRNA. (from RefSeq NM_006871) B4DJL9 C4AM87 ENST00000216274.1 ENST00000216274.2 ENST00000216274.3 ENST00000216274.4 ENST00000216274.5 ENST00000216274.6 ENST00000216274.7 ENST00000216274.8 ENST00000216274.9 NM_006871 Q5J795 Q5J796 Q6P5Y1 Q9Y572 RIP3 RIPK3_HUMAN uc001wpb.1 uc001wpb.2 uc001wpb.3 uc001wpb.4 uc001wpb.5 The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC062584.1, AK075275.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216274.10/ ENSP00000216274.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Essential for cellular necroptosis in response to TNF- alpha family of death-inducing cytokines. Upon induction of necrosis, RIPK3 interacts with, and phosphorylates RIPK1 to form a necrosis-inducing complex. RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL. These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production (By similarity). ATP + a protein = ADP + a phosphoprotein. Interacts (via RIP homotypic interaction motif) with RIPK1 (via RIP homotypic interaction motif); this interaction induces RIPK1 phosphorylation and formation of a RIPK1-RIPK3 necroptosis-inducing complex. Binds TRAF2 is recruited to the TNFR-1 signaling complex. Interacts with PYGL, GLUL and GLUD1; these interactions result in activation of these metabolic enzymes. Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4. Self; NbExp=5; IntAct=EBI-298250, EBI-298250; Q13490:BIRC2; NbExp=3; IntAct=EBI-298250, EBI-514538; Q13489:BIRC3; NbExp=3; IntAct=EBI-298250, EBI-517709; Q8NB16:MLKL; NbExp=10; IntAct=EBI-298250, EBI-1055040; Q13546:RIPK1; NbExp=24; IntAct=EBI-298250, EBI-358507; Cytoplasm (By similarity). Cell membrane (By similarity). Mitochondrion (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y572-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9Y572-2; Sequence=VSP_035106; Name=3; Synonyms=Gamma; IsoId=Q9Y572-3; Sequence=VSP_035107; Highly expressed in the pancreas. Detected at lower levels in heart, placenta, lung and kidney. Isoform 3 is significantly increased in colon and lung cancers. RIPK1 and RIPK3 undergo reciprocal auto- and trans- phosphorylation. Phosphorylation of Ser-199 plays a role in the necroptotic function of RIPK3. Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa- B. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Contains 1 protein kinase domain. nucleotide binding regulation of T cell mediated cytotoxicity regulation of adaptive immune response transcription coactivator activity protein kinase activity protein serine/threonine kinase activity NF-kappaB-inducing kinase activity protein binding ATP binding cytoplasm mitochondrion cytosol plasma membrane cellular protein modification process protein phosphorylation signal transduction I-kappaB kinase/NF-kappaB signaling positive regulation of phosphatase activity positive regulation of necrotic cell death programmed cell death membrane kinase activity phosphorylation transferase activity activation of protein kinase activity regulation of interferon-gamma production T cell differentiation in thymus NIK/NF-kappaB signaling identical protein binding T cell homeostasis macromolecular complex binding regulation of activated T cell proliferation protein autophosphorylation lymph node development spleen development thymus development positive regulation of NF-kappaB transcription factor activity protein homooligomerization protein heterooligomerization positive regulation of ligase activity positive regulation of oxidoreductase activity positive regulation of necroptotic process regulation of activation-induced cell death of T cells necroptotic process cellular response to hydrogen peroxide apoptotic signaling pathway programmed necrotic cell death positive regulation of nucleic acid-templated transcription amyloid fibril formation regulation of reactive oxygen species metabolic process positive regulation of reactive oxygen species metabolic process regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation positive regulation of intrinsic apoptotic signaling pathway  uc001wpb.1 uc001wpb.2 uc001wpb.3 uc001wpb.4 uc001wpb.5 
ENST00000216277.13 PAPOLA ENST00000216277.13 Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA. (from RefSeq NM_032632) ENST00000216277.1 ENST00000216277.10 ENST00000216277.11 ENST00000216277.12 ENST00000216277.2 ENST00000216277.3 ENST00000216277.4 ENST00000216277.5 ENST00000216277.6 ENST00000216277.7 ENST00000216277.8 ENST00000216277.9 NM_032632 P51003 PAP PAPOA_HUMAN Q86SX4 Q86TV0 Q8IYF5 Q9BVU2 uc001yfq.1 uc001yfq.2 uc001yfq.3 uc001yfq.4 uc001yfq.5 The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Polymerase that creates the 3'-poly(A) tail of mRNA's. Also required for the endoribonucleolytic cleavage reaction at some polyadenylation sites. May acquire specificity through interaction with a cleavage and polyadenylation specificity factor (CPSF) at its C-terminus. ATP + RNA(n) = diphosphate + RNA(n+1). Binds 2 magnesium ions. Also active with manganese (By similarity). Monomer. Found in a complex with CPSF1, FIP1L1 and PAPOLA. Interacts with FIP1L1 (By similarity). Interacts with NUDT21; the interaction is diminished by acetylation. Interacts with KPNB1; the interaction promotes PAP nuclear import and is inhibited by acetylation of PAP (By similarity). Cytoplasm. Nucleus. Note=The 90 kDa form is nuclear while the 100 kDa and the 106 kDa forms are both nuclear and cytoplasmic. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51003-1; Sequence=Displayed; Name=2; IsoId=P51003-2; Sequence=VSP_012895, VSP_012896; Polysumoylated. Varying sumolyation depending on tissue- and cell-type. Highly sumoylated in bladder and NIH 3T3 cells. Sumoylation is required for nuclear localization and enhances PAP stability. Desumoylated by SENP1. Inhibits polymerase activity (By similarity). Hyperphosphorylation on multiple CDK2 consensus and non- consensus sites in the C-terminal Ser/Thr-rich region represses PAP activity in late M-phase. Phosphorylation/dephosphorylation may regulate the interaction between PAP and CPSF (By similarity). Acetylated in the C-terminus. Acetylation decreases interaction with NUDT21 and KPNB1, and inhibits nuclear localization through inhibiting binding to the importin alpha/beta complex (By similarity). Belongs to the poly(A) polymerase family. nucleotide binding magnesium ion binding mRNA splicing, via spliceosome RNA binding polynucleotide adenylyltransferase activity protein binding ATP binding nucleus nucleoplasm cytoplasm termination of RNA polymerase II transcription mRNA polyadenylation mRNA processing transferase activity nucleotidyltransferase activity manganese ion binding RNA 3'-end processing mRNA 3'-end processing regulation of mRNA 3'-end processing RNA polyadenylation metal ion binding  uc001yfq.1 uc001yfq.2 uc001yfq.3 uc001yfq.4 uc001yfq.5 
ENST00000216281.13 HSP90AA1 ENST00000216281.13 Homo sapiens heat shock protein 90 alpha family class A member 1 (HSP90AA1), transcript variant 2, mRNA. (from RefSeq NM_005348) A8K500 B3KPJ9 ENST00000216281.1 ENST00000216281.10 ENST00000216281.11 ENST00000216281.12 ENST00000216281.2 ENST00000216281.3 ENST00000216281.4 ENST00000216281.5 ENST00000216281.6 ENST00000216281.7 ENST00000216281.8 ENST00000216281.9 HS90A_HUMAN HSP90A HSPC1 HSPCA NM_005348 P07900 Q2PP14 Q5CAQ6 Q5CAQ7 Q9BVQ5 uc001yku.1 uc001yku.2 uc001yku.3 uc001yku.4 uc001yku.5 uc001yku.6 The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Homodimer. Interacts with AHSA1, FNIP1, HSF1, SMYD3 and TOM34. Interacts with TERT; the interaction, together with PTGES3, is required for correct assembly and stabilization of the TERT holoenzyme complex. Interacts with CHORDC1 and DNAJC7. Interacts with STUB1 and UBE2N; may couple the chaperone and ubiquitination systems. Self; NbExp=4; IntAct=EBI-296047, EBI-296047; O95433:AHSA1; NbExp=4; IntAct=EBI-296047, EBI-448610; Q96G23:CERS2; NbExp=2; IntAct=EBI-296047, EBI-1057080; Q9UHD1:CHORDC1; NbExp=8; IntAct=EBI-296047, EBI-2550959; P05412:JUN; NbExp=2; IntAct=EBI-296047, EBI-852823; P53041:PPP5C; NbExp=8; IntAct=EBI-296047, EBI-716663; Q15185:PTGES3; NbExp=5; IntAct=EBI-296047, EBI-1049387; P61247:RPS3A; NbExp=2; IntAct=EBI-296047, EBI-352378; Q9UNE7:STUB1; NbExp=9; IntAct=EBI-296047, EBI-357085; Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=HSP90AA1-1, HSP90-alpha 2; IsoId=P07900-1; Sequence=Displayed; Name=2; Synonyms=HSP90AA1-2; IsoId=P07900-2; Sequence=VSP_026604; Note=Variant in position: 71:M->L (in dbSNP:rs8005905); The TPR repeat-binding motif mediates interaction with TPR repeat-containing proteins like the co-chaperone STUB1. ISGylated. S-nitrosylated; negatively regulates the ATPase activity and the activation of eNOS by HSP90AA1. Belongs to the heat shock protein 90 family. G2/M transition of mitotic cell cycle nucleotide binding positive regulation of protein phosphorylation RNA binding protein binding ATP binding extracellular region nucleus nucleoplasm cytoplasm cytosol plasma membrane protein folding mitochondrial transport receptor-mediated endocytosis response to unfolded protein telomere maintenance via telomerase signal transduction response to heat response to cold cell surface regulation of G2/M transition of mitotic cell cycle membrane ATPase activity cytokine-mediated signaling pathway central nervous system neuron axonogenesis MHC class II protein complex binding establishment of cell polarity nitric-oxide synthase regulator activity TPR domain binding regulation of protein ubiquitination ubiquitin protein ligase binding positive regulation of protein polymerization macromolecular complex positive regulation of peptidyl-serine phosphorylation cellular response to heat secretory granule lumen Fc-gamma receptor signaling pathway involved in phagocytosis ERBB2 signaling pathway protein refolding melanosome ATPase activity, coupled identical protein binding protein homodimerization activity histone deacetylase binding neuronal cell body lysosomal lumen myelin sheath regulation of protein complex assembly neutrophil degranulation protein unfolding protein binding involved in protein folding dendritic growth cone axonal growth cone protein import into mitochondrial outer membrane positive regulation of nitric oxide biosynthetic process response to antibiotic vascular endothelial growth factor receptor signaling pathway tau protein binding perinuclear region of cytoplasm axon extension protein stabilization regulation of nitric-oxide synthase activity GTPase binding unfolded protein binding chaperone-mediated protein complex assembly cofactor metabolic process positive regulation of protein kinase B signaling positive regulation of telomerase activity chaperone-mediated autophagy extracellular exosome DNA polymerase binding endocytic vesicle lumen scaffold protein binding ciliary basal body docking disordered domain specific binding regulation of cellular response to heat positive regulation of tau-protein kinase activity positive regulation of cellular protein catabolic process regulation of cellular protein localization ficolin-1-rich granule lumen telomerase holoenzyme complex assembly protein tyrosine kinase binding  uc001yku.1 uc001yku.2 uc001yku.3 uc001yku.4 uc001yku.5 uc001yku.6 
ENST00000216286.10 NID2 ENST00000216286.10 Homo sapiens nidogen 2 (NID2), mRNA. (from RefSeq NM_007361) A8K6I7 B4DU19 ENST00000216286.1 ENST00000216286.2 ENST00000216286.3 ENST00000216286.4 ENST00000216286.5 ENST00000216286.6 ENST00000216286.7 ENST00000216286.8 ENST00000216286.9 NID2_HUMAN NM_007361 O43710 Q14112 uc001wzo.1 uc001wzo.2 uc001wzo.3 uc001wzo.4 uc001wzo.5 This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.169212.1, AJ223500.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216286.10/ ENSP00000216286.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions. Interacts with LAMA2 (By similarity). Interacts with COL13A1. Secreted, extracellular space, extracellular matrix, basement membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14112-1; Sequence=Displayed; Name=2; IsoId=Q14112-2; Sequence=VSP_038779, VSP_038780; Note=No experimental confirmation available; Heart, placenta and bone. Less in pancreas, kidney and skeletal muscle. Highly N- and O-glycosylated. Contains 5 EGF-like domains. Contains 5 LDL-receptor class B repeats. Contains 1 NIDO domain. Contains 1 nidogen G2 beta-barrel domain. Contains 2 thyroglobulin type-1 domains. Sequence=BAA13087.1; Type=Frameshift; Positions=54, 68, 150, 172; Sequence=BAA24112.1; Type=Frameshift; Positions=54, 68, 150, 172; extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region basement membrane plasma membrane cell adhesion cell-matrix adhesion extracellular matrix organization extracellular matrix extracellular exosome basement membrane organization  uc001wzo.1 uc001wzo.2 uc001wzo.3 uc001wzo.4 uc001wzo.5 
ENST00000216288.11 MARK3 ENST00000216288.11 Homo sapiens microtubule affinity regulating kinase 3 (MARK3), transcript variant 4, mRNA. (from RefSeq NM_001128920) CTAK1 EMK2 ENST00000216288.1 ENST00000216288.10 ENST00000216288.2 ENST00000216288.3 ENST00000216288.4 ENST00000216288.5 ENST00000216288.6 ENST00000216288.7 ENST00000216288.8 ENST00000216288.9 MARK3_HUMAN NM_001128920 O60219 P27448 Q86TT8 Q8TB41 Q8WX83 Q96RG1 Q9UMY9 Q9UN34 uc001yna.1 uc001yna.2 uc001yna.3 uc001yna.4 uc001yna.5 The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Involved in the specific phosphorylation of microtubule- associated proteins for tau, MAP2 and MAP4. Phosphorylates CDC25C on 'Ser-216'. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. ATP + a protein = ADP + a phosphoprotein. Activated by phosphorylation on Thr-211. Inhibited by phosphorylation on Thr-564. Q8WXK3:ASB13; NbExp=2; IntAct=EBI-707595, EBI-707573; Q15560:TCEA2; NbExp=2; IntAct=EBI-707595, EBI-710310; P31946:YWHAB; NbExp=2; IntAct=EBI-707595, EBI-359815; P61981:YWHAG; NbExp=2; IntAct=EBI-707595, EBI-359832; Q04917:YWHAH; NbExp=4; IntAct=EBI-707595, EBI-306940; P63104:YWHAZ; NbExp=6; IntAct=EBI-707595, EBI-347088; Cell membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=P27448-5; Sequence=Displayed; Name=2; Synonyms=CTAK75a; IsoId=P27448-2; Sequence=VSP_041582, VSP_004944; Name=3; IsoId=P27448-3; Sequence=VSP_004944; Name=4; IsoId=P27448-4; Sequence=VSP_004945; Name=5; Synonyms=p58; IsoId=P27448-6; Sequence=VSP_004943, VSP_004944; Name=6; IsoId=P27448-7; Sequence=VSP_041582, VSP_004943; Name=7; IsoId=P27448-8; Sequence=VSP_043197, VSP_043198; Note=No experimental confirmation available; Ubiquitous. Phosphorylated at Thr-211 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Phosphorylation at Thr-564 by PRKCZ/aPKC inhibits the kinase activity. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. Contains 1 KA1 (kinase-associated) domain. Contains 1 protein kinase domain. Contains 1 UBA domain. MAPK cascade nucleotide binding microtubule cytoskeleton organization protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm cytosol plasma membrane protein phosphorylation membrane kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation dendrite positive regulation of protein binding negative regulation of hippo signaling intracellular signal transduction peptidyl-serine autophosphorylation cell projection tau protein binding tau-protein kinase activity extracellular exosome  uc001yna.1 uc001yna.2 uc001yna.3 uc001yna.4 uc001yna.5 
ENST00000216294.5 SNAPC1 ENST00000216294.5 Homo sapiens small nuclear RNA activating complex polypeptide 1 (SNAPC1), mRNA. (from RefSeq NM_003082) ENST00000216294.1 ENST00000216294.2 ENST00000216294.3 ENST00000216294.4 NM_003082 Q16533 SNAP43 SNPC1_HUMAN uc001xft.1 uc001xft.2 uc001xft.3 uc001xft.4 Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC1 interacts with SNAPC3, SNAPC4 and TBP. Nucleus. DNA binding protein binding nucleus nucleoplasm nucleolus snRNA-activating protein complex snRNA transcription from RNA polymerase II promoter snRNA transcription from RNA polymerase III promoter sequence-specific DNA binding  uc001xft.1 uc001xft.2 uc001xft.3 uc001xft.4 
ENST00000216297.7 SUPT16H ENST00000216297.7 Homo sapiens SPT16 homolog, facilitates chromatin remodeling subunit (SUPT16H), mRNA. (from RefSeq NM_007192) ENST00000216297.1 ENST00000216297.2 ENST00000216297.3 ENST00000216297.4 ENST00000216297.5 ENST00000216297.6 FACT140 FACTP140 NM_007192 Q6GMT8 Q6P2F1 Q6PJM1 Q9NRX0 Q9Y5B9 SP16H_HUMAN uc001wao.1 uc001wao.2 uc001wao.3 Transcription of protein-coding genes can be reconstituted on naked DNA with only the general transcription factors and RNA polymerase II. However, this minimal system cannot transcribe DNA packaged into chromatin, indicating that accessory factors may facilitate access to DNA. One such factor, FACT (facilitates chromatin transcription), interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT is composed of an 80 kDa subunit and a 140 kDa subunit; this gene encodes the 140 kDa subunit. [provided by RefSeq, Feb 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.184381.1, SRR1803612.96622.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216297.7/ ENSP00000216297.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of 'Ser-392' of p53/TP53 via its association with CK2 (casein kinase II). Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR- mediated transrepression of the CYP27B1 gene (By similarity). Component of the FACT complex, a stable heterodimer of SSRP1 and SUPT16H. Also component of a CK2-SPT16-SSRP1 complex which forms following UV irradiation, composed of SSRP1, SUPT16H, CSNK2A1, CSNK2A2 and CSNK2B. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts with NEK9. Binds to histone H2A-H2B. Interacts with GTF2E2. Nucleus. Chromosome. Note=Colocalizes with RNA polymerase II on chromatin. Recruited to actively transcribed loci. Ubiquitous. The Glu-rich acidic region in C-terminus is essential for FACT activity. ADP-ribosylated. ADP-ribosylation by PARP1 is induced by genotoxic stress and correlates with dissociation of FACT from chromatin. Belongs to the peptidase M24 family. SPT16 subfamily. Although related to the peptidase M24 family, this protein lacks conserved active site residues suggesting that it may lack peptidase activity. Sequence=AAH64561.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH73849.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; RNA binding protein binding nucleus nucleoplasm chromosome DNA replication DNA repair nucleosome disassembly transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter cellular response to DNA damage stimulus nucleosome binding positive regulation of DNA-templated transcription, elongation positive regulation of transcription elongation from RNA polymerase II promoter DNA replication-independent nucleosome organization FACT complex histone binding regulation of signal transduction by p53 class mediator  uc001wao.1 uc001wao.2 uc001wao.3 
ENST00000216327.10 ABHD4 ENST00000216327.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMW0) AX721056 ENST00000216327.1 ENST00000216327.2 ENST00000216327.3 ENST00000216327.4 ENST00000216327.5 ENST00000216327.6 ENST00000216327.7 ENST00000216327.8 ENST00000216327.9 J3KMW0 J3KMW0_HUMAN uc058zhv.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc058zhv.1 
ENST00000216330.7 FKBP3 ENST00000216330.7 FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins. (from UniProt Q00688) B2R4Q9 BC016288 ENST00000216330.1 ENST00000216330.2 ENST00000216330.3 ENST00000216330.4 ENST00000216330.5 ENST00000216330.6 FKBP25 FKBP3_HUMAN Q00688 Q14317 uc059bdf.1 FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins. Peptidylproline (omega=180) = peptidylproline (omega=0). Inhibited preferentially by rapamycin over FK506. Nucleus. Belongs to the FKBP-type PPIase family. Contains 1 PPIase FKBP-type domain. Sequence=AAA58474.1; Type=Frameshift; Positions=197; protein peptidyl-prolyl isomerization RNA binding peptidyl-prolyl cis-trans isomerase activity protein binding FK506 binding nucleus isomerase activity signaling receptor activity  uc059bdf.1 
ENST00000216336.3 CTSG ENST00000216336.3 Homo sapiens cathepsin G (CTSG), mRNA. (from RefSeq NM_001911) CATG_HUMAN ENST00000216336.1 ENST00000216336.2 NM_001911 P08311 Q6IBJ6 Q9UCA5 Q9UCU6 uc001wpq.1 uc001wpq.2 uc001wpq.3 uc001wpq.4 uc001wpq.5 The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014460.1, BI833632.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2149004 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216336.3/ ENSP00000216336.2 Protein has antimicrobial activity :: PMID: 2116408 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine protease with trypsin- and chymotrypsin-like specificity. Cleaves complement C3. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, antibacterial activity is inhibited by LPS from P.aeruginosa, Z-Gly-Leu-Phe- CH2Cl and phenylmethylsulfonyl fluoride. Specificity similar to chymotrypsin C. Inhibited by soybean trypsin inhibitor, benzamidine, the synthetic peptide R13K, Z-Gly-Leu-Phe-CH2Cl, phenylmethylsulfonyl fluoride, 3,4-dichloroisocoumarin, DFP, SBTI and alpha-1-antitrypsin. Inhibited by LPS from P.aeruginosa but not by LPS from S.minnesota. Not inhibited by elastinal, CMK, TLCK and ETDA. Kinetic parameters: KM=1.15 mM for Z-Lys-SBzl; KM=0.26 mM for Suc-Ala-Ala-Pro-Phe-SBzl; Cell surface. Belongs to the peptidase S1 family. Contains 1 peptidase S1 domain. angiotensin maturation serine-type endopeptidase activity protein binding extracellular region extracellular space nucleus cytoplasm plasma membrane protein phosphorylation proteolysis immune response heparin binding peptidase activity serine-type peptidase activity cell surface cytoplasmic stress granule hydrolase activity antimicrobial humoral response antibacterial humoral response extracellular matrix disassembly secretory granule response to lipopolysaccharide azurophil granule lumen defense response to bacterium neutrophil degranulation cellular protein metabolic process positive regulation of immune response defense response to Gram-negative bacterium defense response to Gram-positive bacterium defense response to fungus extracellular exosome neutrophil mediated killing of gram-positive bacterium cellular response to lipopolysaccharide  uc001wpq.1 uc001wpq.2 uc001wpq.3 uc001wpq.4 uc001wpq.5 
ENST00000216338.9 GZMH ENST00000216338.9 Homo sapiens granzyme H (GZMH), transcript variant 1, mRNA. (from RefSeq NM_033423) CGL2 CTSGL2 ENST00000216338.1 ENST00000216338.2 ENST00000216338.3 ENST00000216338.4 ENST00000216338.5 ENST00000216338.6 ENST00000216338.7 ENST00000216338.8 GRAH_HUMAN NM_033423 P20718 uc001wpr.1 uc001wpr.2 uc001wpr.3 uc001wpr.4 This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]. Cytotoxic chymotrypsin-like serine protease with preference for bulky and aromatic residues at the P1 position and acidic residues at the P3' and P4' sites. Probably necessary for target cell lysis in cell-mediated immune responses. Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity cytoplasm proteolysis apoptotic process peptidase activity serine-type peptidase activity granzyme-mediated apoptotic signaling pathway membrane hydrolase activity cytolysis  uc001wpr.1 uc001wpr.2 uc001wpr.3 uc001wpr.4 
ENST00000216341.9 GZMB ENST00000216341.9 Homo sapiens granzyme B (GZMB), transcript variant 1, mRNA. (from RefSeq NM_004131) CGL1 CSPB CTLA1 ENST00000216341.1 ENST00000216341.2 ENST00000216341.3 ENST00000216341.4 ENST00000216341.5 ENST00000216341.6 ENST00000216341.7 ENST00000216341.8 GRAB_HUMAN GRB NM_004131 P10144 Q8N1D2 Q9UCC1 uc001wps.1 uc001wps.2 uc001wps.3 uc001wps.4 uc001wps.5 This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]. This enzyme is necessary for target cell lysis in cell- mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis. Preferential cleavage: -Asp-|-Xaa- >> -Asn-|- Xaa- > -Met-|-Xaa-, -Ser-|-Xaa-. Inactivated by the serine protease inhibitor diisopropylfluorophosphate. P14222:PRF1; NbExp=3; IntAct=EBI-2505785, EBI-724466; P10124:SRGN; NbExp=2; IntAct=EBI-2505785, EBI-744915; Cytoplasmic granule. Note=Cytoplasmic granules of cytolytic T-lymphocytes and natural killer cells. By staphylococcal enterotoxin A (SEA) in peripheral blood leukocytes. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. immunological synapse serine-type endopeptidase activity protein binding nucleus cytoplasm mitochondrion cytosol proteolysis apoptotic process peptidase activity serine-type peptidase activity granzyme-mediated apoptotic signaling pathway membrane hydrolase activity cytolysis natural killer cell mediated cytotoxicity positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  uc001wps.1 uc001wps.2 uc001wps.3 uc001wps.4 uc001wps.5 
ENST00000216350.12 PRMT5 ENST00000216350.12 Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 4, mRNA. (from RefSeq NM_001282954) A8MZ91 ANM5_HUMAN B5BU10 D3DS33 ENST00000216350.1 ENST00000216350.10 ENST00000216350.11 ENST00000216350.2 ENST00000216350.3 ENST00000216350.4 ENST00000216350.5 ENST00000216350.6 ENST00000216350.7 ENST00000216350.8 ENST00000216350.9 HRMT1L5 IBP72 JBP1 NM_001282954 O14744 Q6IBR1 Q9UKH1 SKB1 uc010tng.1 uc010tng.2 uc010tng.3 This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Arginine methyltransferase that can both catalyze the formation of omega-N monomethylarginine (MMA) and symmetrical dimethylarginine (sDMA), with a preference for the formation of MMA. Specifically mediates the symmetrical dimethylation of arginine residues in the small nuclear ribonucleoproteins Sm D1 (SNRPD1) and Sm D3 (SNRPD3); such methylation being required for the assembly and biogenesis of snRNP core particles. Methylates SUPT5H. Mono- and dimethylates arginine residues of myelin basic protein (MBP) in vitro. Plays a role in the assembly of snRNP core particles. May play a role in cytokine-activated transduction pathways. Negatively regulates cyclin E1 promoter activity and cellular proliferation. May regulate the SUPT5H transcriptional elongation properties. May be part of a pathway that is connected to a chloride current, possibly through cytoskeletal rearrangement. Methylates histone H2A and H4 'Arg-3' during germ cell development. Methylates histone H3 'Arg-8', which may repress transcription. Methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain-containing proteins and subsequent localization to the meiotic nuage. Methylates RPS10. Attenuates EGF signaling through the MAPK1/MAPK3 pathway acting at 2 levels. First, monomethylates EGFR; this enhances EGFR 'Tyr-1197' phosphorylation and PTPN6 recruitment, eventually leading to reduced SOS1 phosphorylation. Second, methylates RAF1 and probably BRAF, hence destabilizing these 2 signaling proteins and reducing their catalytic activity. Required for induction of E-selectin and VCAM-1, on the endothelial cells surface at sites of inflammation. Methylates HOXA9. Methylates and regulates SRGAP2 which is involved in cell migration and differentiation. S-adenosyl-L-methionine + arginine-[histone] = S-adenosyl-L-homocysteine + N(omega)-methyl-arginine-[histone]. Activity is increased by EGF, HGF, FGF1 or FGF2 treatments, and slightly decreased by NGF treatment. Forms, at least, homodimers and homotetramers. Interacts with PRDM1 (By similarity). Component of the methylosome, a 20S complex containing at least pICLn, PRMT1/SKB1 and MEP50. Component of a high molecular weight E2F-pocket protein complex, CERC (cyclin E1 repressor complex). Also interacts with Sm proteins, JAK2, SSTR1 and SUPT5H. Associates with SWI/SNF remodeling complexes containing SMARCA2 and SMARCA4. Interacts with LSM11, PRMT7 and SNRPD3. Interacts with COPR5/C17orf79; promoting its recruitment on histone H4. Interacts with RPS10. Interacts with EGFR; methylates EGFR and stimulates EGFR-mediated ERK activation. Interacts with BRAF and with active RAF1. Interacts with HOXA9. Interacts with SRGAP2. P62805:HIST2H4B; NbExp=3; IntAct=EBI-351098, EBI-302023; O75044:SRGAP2; NbExp=4; IntAct=EBI-351098, EBI-1051034; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seems to exist. According to EST sequences; Name=1; IsoId=O14744-1; Sequence=Displayed; Name=2; IsoId=O14744-2; Sequence=VSP_043382; Note=No experimental confirmation available; Ubiquitous. Disulfide bonds and non-covalent association mediate homooligomers formation. Belongs to the protein arginine N-methyltransferase family. spliceosomal snRNP assembly p53 binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol chromatin organization DNA-templated transcription, termination protein methylation regulation of mitotic nuclear division methyltransferase activity methyl-CpG binding histone-arginine N-methyltransferase activity protein-arginine N-methyltransferase activity transferase activity peptidyl-arginine methylation peptidyl-arginine methylation, to symmetrical-dimethyl arginine methylation circadian regulation of gene expression macromolecular complex methylosome histone arginine methylation histone methyltransferase complex protein-arginine omega-N symmetric methyltransferase activity peptidyl-arginine N-methylation endothelial cell activation identical protein binding ribonucleoprotein complex binding histone H4-R3 methylation histone methyltransferase activity (H4-R3 specific) regulation of DNA methylation macromolecular complex binding negative regulation of cell differentiation protein heterodimerization activity rhythmic process positive regulation of oligodendrocyte differentiation regulation of ERK1 and ERK2 cascade E-box binding Golgi ribbon formation liver regeneration regulation of signal transduction by p53 class mediator negative regulation of nucleic acid-templated transcription positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway  uc010tng.1 uc010tng.2 uc010tng.3 
ENST00000216361.9 COCH ENST00000216361.9 Homo sapiens cochlin (COCH), transcript variant 3, mRNA. (from RefSeq NM_001347720) A0A2U3TZE7 ENST00000216361.1 ENST00000216361.2 ENST00000216361.3 ENST00000216361.4 ENST00000216361.5 ENST00000216361.6 ENST00000216361.7 ENST00000216361.8 NM_001347720 uc059ams.1 uc059ams.2 The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008].  uc059ams.1 uc059ams.2 
ENST00000216366.9 AP4S1 ENST00000216366.9 adaptor related protein complex 4 sigma 1 subunit (from HGNC AP4S1) A0A8C8KBR5 BC001259 ENST00000216366.1 ENST00000216366.2 ENST00000216366.3 ENST00000216366.4 ENST00000216366.5 ENST00000216366.6 ENST00000216366.7 ENST00000216366.8 uc001wqw.1 uc001wqw.2 uc001wqw.3 uc001wqw.4 uc001wqw.5 uc001wqw.6  uc001wqw.1 uc001wqw.2 uc001wqw.3 uc001wqw.4 uc001wqw.5 uc001wqw.6 
ENST00000216367.10 POLE2 ENST00000216367.10 Homo sapiens DNA polymerase epsilon 2, accessory subunit (POLE2), transcript variant 1, mRNA. (from RefSeq NM_002692) A0AV55 A4FU92 A4LBB7 A6NH58 B4DDE6 DPE2 DPOE2_HUMAN ENST00000216367.1 ENST00000216367.2 ENST00000216367.3 ENST00000216367.4 ENST00000216367.5 ENST00000216367.6 ENST00000216367.7 ENST00000216367.8 ENST00000216367.9 NM_002692 O43560 P56282 uc001wwu.1 uc001wwu.2 uc001wwu.3 uc001wwu.4 uc001wwu.5 DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]. Participates in DNA repair and in chromosomal DNA replication. Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P56282-1; Sequence=Displayed; Name=2; IsoId=P56282-2; Sequence=VSP_042551; Note=No experimental confirmation available; Name=3; IsoId=P56282-3; Sequence=VSP_043796; In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis. Belongs to the DNA polymerase epsilon subunit B family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/pole2/"; G1/S transition of mitotic cell cycle DNA binding DNA-directed DNA polymerase activity protein binding nucleus nucleoplasm DNA replication DNA-dependent DNA replication DNA replication initiation DNA repair epsilon DNA polymerase complex nuclear body transferase activity nucleotidyltransferase activity telomere maintenance via semi-conservative replication error-prone translesion synthesis intracellular membrane-bounded organelle  uc001wwu.1 uc001wwu.2 uc001wwu.3 uc001wwu.4 uc001wwu.5 
ENST00000216373.10 SOS2 ENST00000216373.10 Homo sapiens SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), mRNA. (from RefSeq NM_006939) D3DSB4 ENST00000216373.1 ENST00000216373.2 ENST00000216373.3 ENST00000216373.4 ENST00000216373.5 ENST00000216373.6 ENST00000216373.7 ENST00000216373.8 ENST00000216373.9 NM_006939 Q07890 Q15503 Q17RN1 SOS2_HUMAN uc001wxs.1 uc001wxs.2 uc001wxs.3 uc001wxs.4 uc001wxs.5 uc001wxs.6 This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.78693.1, SRR1803614.79798.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216373.10/ ENSP00000216373.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Promotes the exchange of Ras-bound GDP by GTP (By similarity). P00519:ABL1; NbExp=2; IntAct=EBI-298181, EBI-375543; P46108:CRK; NbExp=2; IntAct=EBI-298181, EBI-886; P62993:GRB2; NbExp=6; IntAct=EBI-298181, EBI-401755; P16333:NCK1; NbExp=3; IntAct=EBI-298181, EBI-389883; Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-298181, EBI-77926; P19174:PLCG1; NbExp=4; IntAct=EBI-298181, EBI-79387; Q9Y5X1:SNX9; NbExp=2; IntAct=EBI-298181, EBI-77848; Contains 1 DH (DBL-homology) domain. Contains 1 N-terminal Ras-GEF domain. Contains 1 PH domain. Contains 1 Ras-GEF domain. Name=Wikipedia; Note=Son of sevenless entry; URL="http://en.wikipedia.org/wiki/Son_of_Sevenless"; nucleosome DNA binding guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity protein binding cytosol G-protein coupled receptor signaling pathway small GTPase mediated signal transduction regulation of Rho protein signal transduction positive regulation of apoptotic process protein heterodimerization activity regulation of small GTPase mediated signal transduction positive regulation of small GTPase mediated signal transduction  uc001wxs.1 uc001wxs.2 uc001wxs.3 uc001wxs.4 uc001wxs.5 uc001wxs.6 
ENST00000216378.2 CDKL1 ENST00000216378.2 Homo sapiens cyclin dependent kinase like 1 (CDKL1), transcript variant 2, mRNA. (from RefSeq NM_001282236) A0A5H1ZRP5 ENST00000216378.1 NM_001282236 uc032bbp.1 uc032bbp.2 This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018].  uc032bbp.1 uc032bbp.2 
ENST00000216392.8 PYGL ENST00000216392.8 Homo sapiens glycogen phosphorylase L (PYGL), transcript variant 1, mRNA. (from RefSeq NM_002863) A6NDQ4 ENST00000216392.1 ENST00000216392.2 ENST00000216392.3 ENST00000216392.4 ENST00000216392.5 ENST00000216392.6 ENST00000216392.7 NM_002863 O60567 O60752 O60913 P06737 PYGL_HUMAN Q501V9 Q641R5 Q96G82 uc001wyu.1 uc001wyu.2 uc001wyu.3 uc001wyu.4 uc001wyu.5 This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]. Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4- alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate. Pyridoxal phosphate. Activity of phosphorylase is controlled both by allosteric means (through the noncovalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Interacts with PPP1R3B (By similarity). Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Defects in PYGL are the cause of glycogen storage disease type 6 (GSD6) [MIM:232700]. A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. Belongs to the glycogen phosphorylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PYGL"; nucleotide binding purine nucleobase binding catalytic activity phosphorylase activity protein binding ATP binding glucose binding extracellular region cytoplasm cytosol carbohydrate metabolic process glycogen metabolic process glycogen catabolic process 5-phosphoribose 1-diphosphate biosynthetic process drug binding metabolic process glycogen phosphorylase activity response to bacterium AMP binding transferase activity transferase activity, transferring glycosyl groups vitamin binding pyridoxal phosphate binding carbohydrate binding bile acid binding secretory granule lumen glucose homeostasis protein homodimerization activity neutrophil degranulation extracellular exosome necroptotic process ficolin-1-rich granule lumen  uc001wyu.1 uc001wyu.2 uc001wyu.3 uc001wyu.4 uc001wyu.5 
ENST00000216407.4 ENSG00000256075 ENST00000216407.4 ENSG00000256075 (from geneSymbol) ENST00000216407.1 ENST00000216407.2 ENST00000216407.3 uc286iux.1  uc286iux.1 
ENST00000216410.8 GNPNAT1 ENST00000216410.8 Homo sapiens glucosamine-phosphate N-acetyltransferase 1 (GNPNAT1), mRNA. (from RefSeq NM_198066) ENST00000216410.1 ENST00000216410.2 ENST00000216410.3 ENST00000216410.4 ENST00000216410.5 ENST00000216410.6 ENST00000216410.7 GNA1 GNA1_HUMAN NM_198066 Q96EK6 uc001xab.1 uc001xab.2 uc001xab.3 uc001xab.4 uc001xab.5 Acetyl-CoA + D-glucosamine 6-phosphate = CoA + N-acetyl-D-glucosamine 6-phosphate. Kinetic parameters: KM=26 uM for acetyl-coenzyme A; KM=97 uM for glucosamine-6-phosphate; Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 1/2. Homodimer. Golgi apparatus membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein (By similarity). Belongs to the acetyltransferase family. GNA1 subfamily. Contains 1 N-acetyltransferase domain. Golgi membrane liver development glucosamine 6-phosphate N-acetyltransferase activity endosome late endosome endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cytosol glucosamine metabolic process N-acetylglucosamine metabolic process UDP-N-acetylglucosamine biosynthetic process N-acetyltransferase activity endosome membrane membrane transferase activity transferase activity, transferring acyl groups identical protein binding monosaccharide binding cellular response to leukemia inhibitory factor  uc001xab.1 uc001xab.2 uc001xab.3 uc001xab.4 uc001xab.5 
ENST00000216414.12 CDKN3 ENST00000216414.12 cyclin dependent kinase inhibitor 3 (from HGNC CDKN3) AY257475 ENST00000216414.1 ENST00000216414.10 ENST00000216414.11 ENST00000216414.2 ENST00000216414.3 ENST00000216414.4 ENST00000216414.5 ENST00000216414.6 ENST00000216414.7 ENST00000216414.8 ENST00000216414.9 uc010aoj.1 uc010aoj.2 uc010aoj.3  uc010aoj.1 uc010aoj.2 uc010aoj.3 
ENST00000216416.9 CNIH1 ENST00000216416.9 Homo sapiens cornichon family AMPA receptor auxiliary protein 1 (CNIH1), mRNA. (from RefSeq NM_005776) CNIH CNIH_HUMAN CNIL ENST00000216416.1 ENST00000216416.2 ENST00000216416.3 ENST00000216416.4 ENST00000216416.5 ENST00000216416.6 ENST00000216416.7 ENST00000216416.8 NM_005776 O95406 Q3SYM7 UNQ155/PRO181 uc001xat.1 uc001xat.2 uc001xat.3 Involved in the selective transport and maturation of TGF-alpha family proteins. Interacts with AREG immature precursor and with immature TGFA, i.e. with a prosegment and lacking full N-glycosylation, but not with the fully N-glycosylated form. In the Golgi apparatus, may form a complex with GORASP55 and transmembrane TGFA. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane. Note=Located primarily in the ER; may cycle between the ER and the Golgi apparatus. Highly expressed in heart, liver, skeletal muscle, pancreas, adrenal medulla and cortex, thyroid, testis, spleen, appendix, peripheral blood lymphocytes and bone marrow. Lower expression found in brain, placenta, lung, kidney, ovary, small intestine, stomach, lymph node, thymus and fetal liver. Belongs to the cornichon family. Golgi membrane endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus ER to Golgi vesicle-mediated transport immune response signal transduction ER to Golgi transport vesicle membrane membrane integral component of membrane vesicle-mediated transport endoplasmic reticulum-Golgi intermediate compartment membrane COPII vesicle coating  uc001xat.1 uc001xat.2 uc001xat.3 
ENST00000216420.12 CGRRF1 ENST00000216420.12 Homo sapiens cell growth regulator with ring finger domain 1 (CGRRF1), mRNA. (from RefSeq NM_006568) CGR19 CGRF1_HUMAN ENST00000216420.1 ENST00000216420.10 ENST00000216420.11 ENST00000216420.2 ENST00000216420.3 ENST00000216420.4 ENST00000216420.5 ENST00000216420.6 ENST00000216420.7 ENST00000216420.8 ENST00000216420.9 NM_006568 Q96BX2 Q99675 RNF197 uc001xay.1 uc001xay.2 uc001xay.3 uc001xay.4 uc001xay.5 Able to inhibit growth in several cell lines (By similarity). Nucleus. Contains 1 RING-type zinc finger. nucleus nucleoplasm endoplasmic reticulum cell cycle cell cycle arrest negative regulation of cell proliferation intracellular membrane-bounded organelle metal ion binding  uc001xay.1 uc001xay.2 uc001xay.3 uc001xay.4 uc001xay.5 
ENST00000216442.12 ATP6V1D ENST00000216442.12 Homo sapiens ATPase H+ transporting V1 subunit D (ATP6V1D), mRNA. (from RefSeq NM_015994) ATP6M B2RE33 ENST00000216442.1 ENST00000216442.10 ENST00000216442.11 ENST00000216442.2 ENST00000216442.3 ENST00000216442.4 ENST00000216442.5 ENST00000216442.6 ENST00000216442.7 ENST00000216442.8 ENST00000216442.9 NM_015994 Q9Y5K8 Q9Y688 VATD VATD_HUMAN uc001xjf.1 uc001xjf.2 uc001xjf.3 uc001xjf.4 uc001xjf.5 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.236310.1, SRR1803613.130608.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216442.12/ ENSP00000216442.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Subunit of the peripheral V1 complex of vacuolar ATPase. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Belongs to the V-ATPase D subunit family. protein binding lysosomal membrane cytosol plasma membrane ion transport insulin receptor signaling pathway membrane regulation of macroautophagy cell projection organization proton-transporting V-type ATPase complex transferrin transport ion transmembrane transport specific granule membrane ATPase activity, coupled to transmembrane movement of substances neutrophil degranulation proton-transporting ATPase activity, rotational mechanism cilium assembly protein localization to cilium extracellular exosome phagosome acidification hydrogen ion transmembrane transport centrosome cilium  uc001xjf.1 uc001xjf.2 uc001xjf.3 uc001xjf.4 uc001xjf.5 
ENST00000216445.8 CCDC198 ENST00000216445.8 Homo sapiens coiled-coil domain containing 198 (CCDC198), transcript variant 2, mRNA. (from RefSeq NM_018168) C14orf105 CN105_HUMAN ENST00000216445.1 ENST00000216445.2 ENST00000216445.3 ENST00000216445.4 ENST00000216445.5 ENST00000216445.6 ENST00000216445.7 NM_018168 Q53G04 Q9NVL8 uc001xcy.1 uc001xcy.2 uc001xcy.3 uc001xcy.4 uc001xcy.5 protein binding  uc001xcy.1 uc001xcy.2 uc001xcy.3 uc001xcy.4 uc001xcy.5 
ENST00000216446.9 PLEK2 ENST00000216446.9 Homo sapiens pleckstrin 2 (PLEK2), mRNA. (from RefSeq NM_016445) ENST00000216446.1 ENST00000216446.2 ENST00000216446.3 ENST00000216446.4 ENST00000216446.5 ENST00000216446.6 ENST00000216446.7 ENST00000216446.8 NM_016445 PLEK2_HUMAN Q96JT0 Q9NYT0 uc001xjh.1 uc001xjh.2 uc001xjh.3 The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease. [provided by RefSeq, Dec 2015]. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.122977.1, BC001226.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2146411 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216446.9/ ENSP00000216446.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation. Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Contains 1 DEP domain. Contains 2 PH domains. cytoplasm cytoskeleton plasma membrane membrane actin cytoskeleton organization lamellipodium membrane positive regulation of cell projection organization actin cytoskeleton reorganization phosphatidylinositol-3-phosphate binding intracellular signal transduction cell projection phosphatidylinositol-3,4-bisphosphate binding phosphatidylinositol-3,5-bisphosphate binding  uc001xjh.1 uc001xjh.2 uc001xjh.3 
ENST00000216450.7 LRRC74A ENST00000216450.7 Homo sapiens leucine rich repeat containing 74A (LRRC74A), transcript variant 6, non-coding RNA. (from RefSeq NR_169573) C14orf166B ENST00000216450.1 ENST00000216450.2 ENST00000216450.3 ENST00000216450.4 ENST00000216450.5 ENST00000216450.6 H7BXD0 H7BXD0_HUMAN NR_169573 uc010asn.1 uc010asn.2 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc010asn.1 uc010asn.2 
ENST00000216452.9 PIGH ENST00000216452.9 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class H (PIGH), transcript variant 1, mRNA. (from RefSeq NM_004569) B2RAA4 ENST00000216452.1 ENST00000216452.2 ENST00000216452.3 ENST00000216452.4 ENST00000216452.5 ENST00000216452.6 ENST00000216452.7 ENST00000216452.8 NM_004569 PIGH_HUMAN Q14442 uc001xjr.1 uc001xjr.2 uc001xjr.3 This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.5166.1, SRR1803613.53054.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216452.9/ ENSP00000216452.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Part of the complex catalyzing the transfer of N- acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis. UDP-N-acetyl-D-glucosamine + 1-phosphatidyl- 1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Associates with PIGA, PIGC, PIGP, PIGQ and DPM2. The latter is not essential for activity. Cytoplasm. Belongs to the PIGH family. Name=Functional Glycomics Gateway - GTase; Note=Phosphatidylinositol N-acetylglucosaminyltransferase subunit H; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_557"; glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex catalytic activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cellular protein modification process GPI anchor biosynthetic process preassembly of GPI anchor in ER membrane transferase activity transferase activity, transferring glycosyl groups phosphatidylinositol N-acetylglucosaminyltransferase activity  uc001xjr.1 uc001xjr.2 uc001xjr.3 
ENST00000216455.9 PSMA3 ENST00000216455.9 Homo sapiens proteasome 20S subunit alpha 3 (PSMA3), transcript variant 1, mRNA. (from RefSeq NM_002788) B2RCK6 ENST00000216455.1 ENST00000216455.2 ENST00000216455.3 ENST00000216455.4 ENST00000216455.5 ENST00000216455.6 ENST00000216455.7 ENST00000216455.8 HC8 NM_002788 P25788 PSA3_HUMAN PSC8 Q86U83 Q8N1D8 Q9BS70 uc001xdj.1 uc001xdj.2 uc001xdj.3 uc001xdj.4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Binds to the C-terminus of CDKN1A and thereby mediates its degradation. Negatively regulates the membrane trafficking of the cell-surface thromboxane A2 receptor (TBXA2R) isoform 2. Cleavage of peptide bonds with very broad specificity. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. Interacts with AURKB. Interacts with CDKN1A. Interacts with HIV-1 TAT protein. Interacts with hepatitis C virus (HCV) F protein. Interacts with Epstein-Barr virus EBNA3 proteins. Interacts with MDM2 and RB1. Interacts with the C-terminus of TBXA2R isoform 2. P29590:PML; NbExp=2; IntAct=EBI-348380, EBI-295890; P25786:PSMA1; NbExp=3; IntAct=EBI-348380, EBI-359352; P25789:PSMA4; NbExp=4; IntAct=EBI-348380, EBI-359310; P60900:PSMA6; NbExp=2; IntAct=EBI-348380, EBI-357793; O14818:PSMA7; NbExp=4; IntAct=EBI-348380, EBI-603272; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P25788-1; Sequence=Displayed; Name=2; IsoId=P25788-2; Sequence=VSP_005280; Down-regulated by antioxidants BO-653 and probucol. Up- regulated by bacterial lipopolysaccharides (LPS) and TNF. Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle viral process protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process ubiquitin protein ligase binding tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification synapse T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process regulation of endopeptidase activity transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation  uc001xdj.1 uc001xdj.2 uc001xdj.3 uc001xdj.4 
ENST00000216456.6 VTI1B ENST00000216456.6 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMW2) AK310839 ENST00000216456.1 ENST00000216456.2 ENST00000216456.3 ENST00000216456.4 ENST00000216456.5 J3KMW2 J3KMW2_HUMAN uc059cqw.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc059cqw.1 
ENST00000216463.8 TIMM9 ENST00000216463.8 Homo sapiens translocase of inner mitochondrial membrane 9 (TIMM9), transcript variant 10, non-coding RNA. (from RefSeq NR_130751) ENST00000216463.1 ENST00000216463.2 ENST00000216463.3 ENST00000216463.4 ENST00000216463.5 ENST00000216463.6 ENST00000216463.7 NR_130751 uc059bzp.1 TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004].  uc059bzp.1 
ENST00000216465.10 GSTZ1 ENST00000216465.10 Homo sapiens glutathione S-transferase zeta 1 (GSTZ1), transcript variant 1, mRNA. (from RefSeq NM_145870) A0A0C4DFM0 ENST00000216465.1 ENST00000216465.2 ENST00000216465.3 ENST00000216465.4 ENST00000216465.5 ENST00000216465.6 ENST00000216465.7 ENST00000216465.8 ENST00000216465.9 NM_145870 uc001xtj.1 uc001xtj.2 uc001xtj.3 uc001xtj.4 uc001xtj.5 This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015].  uc001xtj.1 uc001xtj.2 uc001xtj.3 uc001xtj.4 uc001xtj.5 
ENST00000216468.8 TMED8 ENST00000216468.8 Homo sapiens transmembrane p24 trafficking protein family member 8 (TMED8), transcript variant 2, mRNA. (from RefSeq NM_213601) B3KTI6 ENST00000216468.1 ENST00000216468.2 ENST00000216468.3 ENST00000216468.4 ENST00000216468.5 ENST00000216468.6 ENST00000216468.7 FAM15B L10 NM_213601 Q3MJB0 Q6PL24 Q9P1V9 TMED8_HUMAN uc001xto.1 uc001xto.2 uc001xto.3 Contains 1 GOLD domain. Sequence=AAF62560.1; Type=Erroneous gene model prediction;  uc001xto.1 uc001xto.2 uc001xto.3 
ENST00000216471.5 SAMD15 ENST00000216471.5 Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA. (from RefSeq NM_001010860) C14orf174 ENST00000216471.1 ENST00000216471.2 ENST00000216471.3 ENST00000216471.4 FAM15A NM_001010860 Q2M3P3 Q9P1V8 SAM15_HUMAN uc001xtq.1 uc001xtq.2 uc001xtq.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P1V8-1; Sequence=Displayed; Name=2; IsoId=Q9P1V8-2; Sequence=VSP_023431, VSP_023432; Contains 1 SAM (sterile alpha motif) domain.  uc001xtq.1 uc001xtq.2 uc001xtq.3 
ENST00000216479.8 AHSA1 ENST00000216479.8 Homo sapiens activator of HSP90 ATPase activity 1 (AHSA1), transcript variant 1, mRNA. (from RefSeq NM_012111) AHSA1_HUMAN B2R9L2 C14orf3 ENST00000216479.1 ENST00000216479.2 ENST00000216479.3 ENST00000216479.4 ENST00000216479.5 ENST00000216479.6 ENST00000216479.7 HSPC322 NM_012111 O95433 Q96IL6 Q9P060 uc001xtw.1 uc001xtw.2 uc001xtw.3 uc001xtw.4 uc001xtw.5 Cochaperone that stimulates HSP90 ATPase activity (By similarity). May affect a step in the endoplasmic reticulum to Golgi trafficking. Interacts with HSPCA/HSP90 and with the cytoplasmic tail of the vesicular stomatitis virus glycoprotein (VSV G). Interacts with GCH1. Interacts with SRPK1. P30793:GCH1; NbExp=3; IntAct=EBI-448610, EBI-958183; P07900:HSP90AA1; NbExp=4; IntAct=EBI-448610, EBI-296047; Cytoplasm, cytosol. Endoplasmic reticulum. Note=May transiently interact with the endoplasmic reticulum. Expressed in numerous tissues, including brain, heart, skeletal muscle and kidney and, at lower levels, liver and placenta. By heat shock and treatment with the HSP90 inhibitor 17-demethoxygeldanamycin (17AAG). Belongs to the AHA1 family. ATPase activator activity protein binding cytoplasm endoplasmic reticulum cytosol positive regulation of ATPase activity cadherin binding chaperone binding Hsp90 protein binding extracellular exosome  uc001xtw.1 uc001xtw.2 uc001xtw.3 uc001xtw.4 uc001xtw.5 
ENST00000216481.10 ISM2 ENST00000216481.10 Secreted (Potential). (from UniProt Q6H9L7) A8K6D5 AK056709 ENST00000216481.1 ENST00000216481.2 ENST00000216481.3 ENST00000216481.4 ENST00000216481.5 ENST00000216481.6 ENST00000216481.7 ENST00000216481.8 ENST00000216481.9 ISM2_HUMAN O95432 PSEC0137 Q495U5 Q68CN3 Q6H9L7 Q86TQ7 Q86TW3 Q86TW4 Q8N501 Q8NBL0 TAIL1 THSD3 uc059duv.1 Secreted (Potential). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q6H9L7-1; Sequence=Displayed; Name=2; IsoId=Q6H9L7-2; Sequence=VSP_028610, VSP_028611; Name=3; IsoId=Q6H9L7-3; Sequence=VSP_028612; Name=4; IsoId=Q6H9L7-4; Sequence=VSP_029679, VSP_029680; Name=5; IsoId=Q6H9L7-5; Sequence=VSP_029681; Expressed at high levels in the placenta and at moderate levels in the pancreas, kidney, heart, liver, lung, brain and skeletal muscle. Belongs to the isthmin family. Contains 1 AMOP domain. Contains 1 TSP type-1 domain. Sequence=AAD09622.1; Type=Erroneous gene model prediction; Sequence=CAD62605.1; Type=Erroneous initiation; Sequence=CAD66577.1; Type=Erroneous initiation; Sequence=EAW81296.1; Type=Erroneous gene model prediction; extracellular region  uc059duv.1 
ENST00000216484.7 SPTLC2 ENST00000216484.7 Homo sapiens serine palmitoyltransferase long chain base subunit 2 (SPTLC2), mRNA. (from RefSeq NM_004863) ENST00000216484.1 ENST00000216484.2 ENST00000216484.3 ENST00000216484.4 ENST00000216484.5 ENST00000216484.6 KIAA0526 LCB2 NM_004863 O15270 Q16685 SPTC2_HUMAN uc001xub.1 uc001xub.2 uc001xub.3 uc001xub.4 uc001xub.5 This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB011098.1, SRR1660809.78040.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SSSPTA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SSSPTB complex displays a preference for C18-CoA substrate. Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D- sphinganine + CO(2). Pyridoxal phosphate (By similarity). Lipid metabolism; sphingolipid metabolism. Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (C14orf147/SSSPTA and C3orf57/SSSPTB). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Widely expressed. Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C) [MIM:613640]. It is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. Sequence=BAA25452.2; Type=Erroneous initiation; catalytic activity serine C-palmitoyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process sphingolipid metabolic process sphingomyelin biosynthetic process biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups serine C-palmitoyltransferase complex sphingolipid biosynthetic process pyridoxal phosphate binding sphinganine biosynthetic process sphingosine biosynthetic process ceramide biosynthetic process adipose tissue development positive regulation of lipophagy  uc001xub.1 uc001xub.2 uc001xub.3 uc001xub.4 uc001xub.5 
ENST00000216487.12 RIN3 ENST00000216487.12 Homo sapiens Ras and Rab interactor 3 (RIN3), transcript variant 1, mRNA. (from RefSeq NM_024832) ENST00000216487.1 ENST00000216487.10 ENST00000216487.11 ENST00000216487.2 ENST00000216487.3 ENST00000216487.4 ENST00000216487.5 ENST00000216487.6 ENST00000216487.7 ENST00000216487.8 ENST00000216487.9 NM_024832 Q76LB3 Q8NF30 Q8TB24 Q8TEE8 Q8WYP4 Q9H6A5 Q9HAG1 RIN3_HUMAN uc001yap.1 uc001yap.2 uc001yap.3 uc001yap.4 uc001yap.5 This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Potential Ras effector protein. May function as a guanine nucleotide exchange (GEF), by exchanging bound GDP for free GTP. Interacts with RAB5B and BIN1. P16333:NCK1; NbExp=2; IntAct=EBI-1570523, EBI-389883; P19174:PLCG1; NbExp=3; IntAct=EBI-1570523, EBI-79387; Cytoplasm. Cytoplasmic vesicle. Early endosome. Note=Activation of tyrosine phosphorylation signaling induces translocation to cytoplasmic vesicles. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TB24-1; Sequence=Displayed; Name=4; IsoId=Q8TB24-4; Sequence=VSP_007587, VSP_007588; Note=No experimental confirmation available; Widely expressed. Belongs to the RIN (Ras interaction/interference) family. Contains 1 Ras-associating domain. Contains 1 SH2 domain. Contains 1 VPS9 domain. Sequence=BAB13888.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAB15357.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC03432.1; Type=Miscellaneous discrepancy; Note=Intron retention; GTPase activator activity protein binding cytoplasm endosome early endosome cytosol endocytosis signal transduction Rab guanyl-nucleotide exchange factor activity Rab GTPase binding cytoplasmic vesicle positive regulation of GTPase activity  uc001yap.1 uc001yap.2 uc001yap.3 uc001yap.4 uc001yap.5 
ENST00000216489.8 ALKBH1 ENST00000216489.8 Homo sapiens alkB homolog 1, histone H2A dioxygenase (ALKBH1), mRNA. (from RefSeq NM_006020) ABH ABH1 ALKB1_HUMAN ALKBH ENST00000216489.1 ENST00000216489.2 ENST00000216489.3 ENST00000216489.4 ENST00000216489.5 ENST00000216489.6 ENST00000216489.7 NM_006020 Q13686 Q8TAU1 Q9ULA7 uc001xuc.1 uc001xuc.2 uc001xuc.3 This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.180648.1, SRR1660805.27277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144, SAMN03267755 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216489.8/ ENSP00000216489.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dioxygenase that repairs alkylated single-stranded DNA and RNA containing 3-methylcytosine by oxidative demethylation. Requires molecular oxygen, alpha-ketoglutarate and iron. May have a role in placental trophoblast lineage differentiation (By similarity). Has DNA lyase activity and introduces double-stranded breaks at abasic sites. Cleaves both single-stranded DNA and double-stranded DNA at abasic sites, with the greatest activity towards double-stranded DNA with two abasic sites. DNA lyase activity does not require alpha-ketoglutarate and iron. The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. DNA-base-CH(3) + 2-oxoglutarate + O(2) = DNA- base + formaldehyde + succinate + CO(2). Binds 1 Fe(2+) ion per subunit. Monomer. Interacts with DNAJB6 (By similarity). Mitochondrion. Nucleus (By similarity). Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli (By similarity). Ubiquitous. Belongs to the alkB family. Contains 1 Fe2OG dioxygenase domain. Detected in cytoplasm and nucleus When expressed as fusion protein with an N-terminal tag, or when the first 26 N- terminal residues are removed (PubMed:17979886 and PubMed:18603530). The endogenous, unmodified protein localizes to mitochondria (PubMed:18603530). Sequence=CAA63047.1; Type=Frameshift; Positions=Several; tRNA binding in utero embryonic development neuron migration placenta development tRNA wobble cytosine modification catalytic activity nucleus nuclear euchromatin mitochondrion DNA repair DNA dealkylation involved in DNA repair regulation of translation regulation of translational initiation regulation of translational elongation cellular response to DNA damage stimulus metabolic process ferrous iron binding regulation of gene expression oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors lyase activity cell differentiation neuron projection development oxidative DNA demethylation oxidative DNA demethylase activity chemoattractant activity RNA repair negative regulation of neuron apoptotic process metal ion binding developmental growth positive chemotaxis dioxygenase activity oxidation-reduction process regulation of mitochondrial translation methylcytosine dioxygenase activity oxidative demethylation DNA demethylation 1-ethyladenine demethylase activity tRNA demethylation tRNA demethylase activity  uc001xuc.1 uc001xuc.2 uc001xuc.3 
ENST00000216492.10 CHGA ENST00000216492.10 Homo sapiens chromogranin A (CHGA), transcript variant 1, mRNA. (from RefSeq NM_001275) B2R9E9 CMGA_HUMAN ENST00000216492.1 ENST00000216492.2 ENST00000216492.3 ENST00000216492.4 ENST00000216492.5 ENST00000216492.6 ENST00000216492.7 ENST00000216492.8 ENST00000216492.9 NM_001275 P10645 Q53FA8 Q6NR84 Q96E84 Q96GL7 Q9BQB5 uc001ybc.1 uc001ybc.2 uc001ybc.3 uc001ybc.4 uc001ybc.5 uc001ybc.6 uc001ybc.7 The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]. Pancreastatin strongly inhibits glucose induced insulin release from the pancreas. Interacts with SCG3 (By similarity). Cytoplasmic vesicle, secretory vesicle lumen (By similarity). Cytoplasmic vesicle, secretory vesicle membrane (By similarity). Secreted. Note=Associated with the secretory granule membrane through direct interaction to SCG3 that in turn binds to cholesterol-enriched lipid rafts in intragranular conditions (By similarity). Sulfated on tyrosine residues and/or contains sulfated glycans. O-glycosylated with core 1 or possibly core 8 glycans. Binds calcium with a low-affinity. Belongs to the chromogranin/secretogranin protein family. regulation of the force of heart contraction mast cell chemotaxis extracellular region extracellular space organelle organization regulation of blood pressure membrane antimicrobial humoral response transport vesicle secretory granule transport vesicle membrane cytoplasmic vesicle killing of cells of other organism mast cell cytokine production protein localization to secretory granule negative regulation of catecholamine secretion chromaffin granule mast cell granule defense response to bacterium mast cell degranulation innate immune response mast cell activation perinuclear region of cytoplasm defense response to Gram-negative bacterium defense response to Gram-positive bacterium defense response to fungus positive regulation of cardiac muscle contraction adrenergic receptor signaling pathway involved in cardiac muscle relaxation positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway negative regulation of neuron death positive regulation of relaxation of cardiac muscle positive regulation of dense core granule biogenesis  uc001ybc.1 uc001ybc.2 uc001ybc.3 uc001ybc.4 uc001ybc.5 uc001ybc.6 uc001ybc.7 
ENST00000216500.9 DHRS7 ENST00000216500.9 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y394-1; Sequence=Displayed; Name=2; IsoId=Q9Y394-2; Sequence=VSP_008103; Note=No experimental confirmation available; (from UniProt Q9Y394) AL117420 B2R896 CGI-86 DHRS7A DHRS7_HUMAN ENST00000216500.1 ENST00000216500.2 ENST00000216500.3 ENST00000216500.4 ENST00000216500.5 ENST00000216500.6 ENST00000216500.7 ENST00000216500.8 Q9UKU2 Q9Y394 RETSDR4 UNQ285/PRO3448 uc001xes.1 uc001xes.2 uc001xes.3 uc001xes.4 uc001xes.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y394-1; Sequence=Displayed; Name=2; IsoId=Q9Y394-2; Sequence=VSP_008103; Note=No experimental confirmation available; Belongs to the short-chain dehydrogenases/reductases (SDR) family. membrane oxidoreductase activity oxidation-reduction process  uc001xes.1 uc001xes.2 uc001xes.3 uc001xes.4 uc001xes.5 
ENST00000216513.5 SIX4 ENST00000216513.5 Homo sapiens SIX homeobox 4 (SIX4), mRNA. (from RefSeq NM_017420) ENST00000216513.1 ENST00000216513.2 ENST00000216513.3 ENST00000216513.4 NM_017420 Q4QQH5 Q4V764 Q9UIU6 SIX4_HUMAN uc001xfc.1 uc001xfc.2 uc001xfc.3 uc001xfc.4 uc001xfc.5 This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.140483.1, BC098135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216513.5/ ENSP00000216513.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Nucleus (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the SIX/Sine oculis homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=BAA86223.1; Type=Erroneous initiation; Sequence=EAW80786.1; Type=Erroneous initiation; nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription factor complex cytoplasm regulation of transcription, DNA-templated multicellular organism development skeletal muscle tissue development regulation of synaptic growth at neuromuscular junction male gonad development anatomical structure morphogenesis regulation of gene expression male sex determination olfactory placode formation regulation of protein localization protein localization to nucleus inner ear morphogenesis negative regulation of apoptotic process negative regulation of neuron apoptotic process sequence-specific DNA binding tongue development sarcomere organization negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter male sex differentiation thymus development generation of neurons embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis anatomical structure development regulation of epithelial cell proliferation myoblast migration pharyngeal system development myotome development fungiform papilla morphogenesis trigeminal ganglion development metanephric mesenchyme development regulation of branch elongation involved in ureteric bud branching positive regulation of ureteric bud formation positive regulation of branching involved in ureteric bud morphogenesis skeletal muscle fiber differentiation negative regulation of satellite cell differentiation  uc001xfc.1 uc001xfc.2 uc001xfc.3 uc001xfc.4 uc001xfc.5 
ENST00000216517.10 CEP128 ENST00000216517.10 Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Note=Associates with the mother centriole. (from UniProt Q6ZU80) B9EK52 BC045834 C14orf145 C14orf61 CE128_HUMAN ENST00000216517.1 ENST00000216517.2 ENST00000216517.3 ENST00000216517.4 ENST00000216517.5 ENST00000216517.6 ENST00000216517.7 ENST00000216517.8 ENST00000216517.9 Q6ZU80 Q86X97 Q96ML4 uc059dxs.1 Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, spindle pole. Note=Associates with the mother centriole. Event=Alternative splicing; Named isoforms=3; Name=2; IsoId=Q6ZU80-2; Sequence=Displayed; Name=1; IsoId=Q6ZU80-1; Sequence=VSP_014752, VSP_030196; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=Q6ZU80-3; Sequence=VSP_030194, VSP_030195; Note=No experimental confirmation available; Phosphorylated upon DNA damage, probably by ATM or ATR. Sequence=BAB71273.1; Type=Erroneous initiation; Note=Translation N-terminally extended; spindle pole cytoplasm centriole microtubule organizing center cytoskeleton protein localization  uc059dxs.1 
ENST00000216520.6 ERH ENST00000216520.6 ERH, mRNA splicing and mitosis factor (from HGNC ERH) BC014301 ENST00000216520.1 ENST00000216520.2 ENST00000216520.3 ENST00000216520.4 ENST00000216520.5 uc059cuw.1  uc059cuw.1 
ENST00000216540.5 SLC10A1 ENST00000216540.5 Homo sapiens solute carrier family 10 member 1 (SLC10A1), mRNA. (from RefSeq NM_003049) B9EGB6 ENST00000216540.1 ENST00000216540.2 ENST00000216540.3 ENST00000216540.4 GIG29 NM_003049 NTCP NTCP_HUMAN Q14973 Q2TU29 uc001xlr.1 uc001xlr.2 uc001xlr.3 uc001xlr.4 The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.103981.1, SRR5189664.104510.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216540.5/ ENSP00000216540.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The hepatic sodium/bile acid uptake system exhibits broad substrate specificity and transports various non-bile acid organic compounds as well. It is strictly dependent on the extracellular presence of sodium. Membrane; Multi-pass membrane protein. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. virus receptor activity plasma membrane integral component of plasma membrane ion transport sodium ion transport bile acid:sodium symporter activity bile acid transmembrane transporter activity symporter activity bile acid and bile salt transport membrane integral component of membrane viral process basolateral plasma membrane viral entry into host cell transmembrane transport  uc001xlr.1 uc001xlr.2 uc001xlr.3 uc001xlr.4 
ENST00000216554.8 EIF5 ENST00000216554.8 Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 1, mRNA. (from RefSeq NM_001969) ENST00000216554.1 ENST00000216554.2 ENST00000216554.3 ENST00000216554.4 ENST00000216554.5 ENST00000216554.6 ENST00000216554.7 IF5_HUMAN NM_001969 P55010 Q53XB3 Q9H5N2 Q9UG48 uc001ymq.1 uc001ymq.2 uc001ymq.3 uc001ymq.4 uc001ymq.5 uc001ymq.6 Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]. Catalyzes the hydrolysis of GTP bound to the 40S ribosomal initiation complex (40S.mRNA.Met-tRNA[F].eIF-2.GTP) with the subsequent joining of a 60S ribosomal subunit resulting in the release of eIF-2 and the guanine nucleotide. The subsequent joining of a 60S ribosomal subunit results in the formation of a functional 80S initiation complex (80S.mRNA.Met-tRNA[F]). Belongs to the eIF-2-beta/eIF-5 family. Contains 1 W2 domain. nucleotide binding formation of translation preinitiation complex formation of cytoplasmic translation initiation complex RNA binding translation initiation factor activity GTPase activity GDP-dissociation inhibitor activity protein binding GTP binding cytoplasm cytosol plasma membrane translation translational initiation regulation of translational initiation translation factor activity, RNA binding cadherin binding eukaryotic initiation factor eIF2 binding activation of GTPase activity nucleus  uc001ymq.1 uc001ymq.2 uc001ymq.3 uc001ymq.4 uc001ymq.5 uc001ymq.6 
ENST00000216568.11 SLC8A3 ENST00000216568.11 Homo sapiens solute carrier family 8 member A3 (SLC8A3), transcript variant g, mRNA. (from RefSeq NM_001130417) ENST00000216568.1 ENST00000216568.10 ENST00000216568.2 ENST00000216568.3 ENST00000216568.4 ENST00000216568.5 ENST00000216568.6 ENST00000216568.7 ENST00000216568.8 ENST00000216568.9 NAC3_HUMAN NCX3 NM_001130417 P57103 Q5K3P6 Q5K3P7 Q8IUE9 Q8IUF0 Q8NFI7 Q96QG1 Q96QG2 uc001xlv.1 uc001xlv.2 uc001xlv.3 uc001xlv.4 uc001xlv.5 This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]. Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores (By similarity). By intracellular calcium ions (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=7; Name=3; Synonyms=NCX3.3; IsoId=P57103-1; Sequence=Displayed; Name=2; Synonyms=NCX3.2; IsoId=P57103-2; Sequence=VSP_008116; Name=4; Synonyms=NCX3.4; IsoId=P57103-3; Sequence=VSP_008117, VSP_008118; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; Name=5; Synonyms=NCX3-tN.1; IsoId=P57103-4; Sequence=VSP_043125; Note=Expressed in fetal brain; Name=6; Synonyms=NCX3-tN.2; IsoId=P57103-5; Sequence=VSP_043126, VSP_008116; Note=Expressed in fetal brain; Name=7; IsoId=P57103-6; Sequence=VSP_043850; Name=8; IsoId=P57103-7; Sequence=VSP_044502; Isoform 2 is expressed in brain and skeletal muscle. Isoform 3 is expressed in excitable cells of brain, retina and skeletal muscle. Isoform 4 is expressed in skeletal muscle. Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily. Contains 2 Calx-beta domains. hematopoietic progenitor cell differentiation calcium:sodium antiporter activity calmodulin binding cytoplasm mitochondrion mitochondrial outer membrane endoplasmic reticulum endoplasmic reticulum membrane microtubule plasma membrane integral component of plasma membrane ion transport sodium ion transport calcium ion transport mitochondrial calcium ion transport cellular calcium ion homeostasis cell communication learning memory regulation of skeletal muscle contraction antiporter activity calcium:cation antiporter activity membrane integral component of membrane sarcoplasm telencephalon development metal ion transport cell junction dendrite intrinsic component of plasma membrane neuromuscular junction sodium ion transmembrane transport sarcolemma myelination cell projection neuronal cell body dendritic spine perikaryon metal ion binding perinuclear region of cytoplasm oligodendrocyte differentiation mitochondrial calcium ion homeostasis transmembrane transport long-term synaptic potentiation calcium ion transport into cytosol calcium ion transmembrane transport cellular response to cAMP cellular response to hypoxia calcium ion import across plasma membrane integral component of postsynaptic membrane regulation of postsynaptic cytosolic calcium ion concentration ion antiporter activity involved in regulation of postsynaptic membrane potential regulation of cardiac conduction calcium:cation antiporter activity involved in regulation of postsynaptic cytosolic calcium ion concentration calcium ion export from cell  uc001xlv.1 uc001xlv.2 uc001xlv.3 uc001xlv.4 uc001xlv.5 
ENST00000216602.10 ZFYVE21 ENST00000216602.10 Homo sapiens zinc finger FYVE-type containing 21 (ZFYVE21), transcript variant 1, mRNA. (from RefSeq NM_001198953) A8K3A4 ENST00000216602.1 ENST00000216602.2 ENST00000216602.3 ENST00000216602.4 ENST00000216602.5 ENST00000216602.6 ENST00000216602.7 ENST00000216602.8 ENST00000216602.9 NM_001198953 Q86T05 Q96LT1 Q9BQ24 ZFY21_HUMAN uc001yod.1 uc001yod.2 uc001yod.3 uc001yod.4 Plays a role in cell adhesion, and thereby in cell motility, regulating microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassemblya, as well as integrin beta-1/ITGB1 cell surface expression. Interacts with PTK2/FAK1. Cell junction, focal adhesion. Cytoplasmic vesicle. Note=Within cytoplasmic vesicles, partially colocalizes with EEA1, an endosomal marker. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQ24-1; Sequence=Displayed; Name=2; IsoId=Q9BQ24-2; Sequence=VSP_013794; Note=No experimental confirmation available; Contains 1 FYVE-type zinc finger. Sequence=CAD62589.1; Type=Erroneous initiation; protein binding endosome focal adhesion cell junction cytoplasmic vesicle metal ion binding  uc001yod.1 uc001yod.2 uc001yod.3 uc001yod.4 
ENST00000216629.11 BDKRB1 ENST00000216629.11 This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation. (from UniProt P46663) A8K7F5 BKRB1_HUMAN BRADYB1 ENST00000216629.1 ENST00000216629.10 ENST00000216629.2 ENST00000216629.3 ENST00000216629.4 ENST00000216629.5 ENST00000216629.6 ENST00000216629.7 ENST00000216629.8 ENST00000216629.9 NM_001386007 P46663 Q546S7 Q8N0Y8 uc001yfh.1 uc001yfh.2 uc001yfh.3 uc001yfh.4 uc001yfh.5 This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB1 sub-subfamily. Name=Wikipedia; Note=Bradykinin receptor entry; URL="http://en.wikipedia.org/wiki/Bradykinin_receptor"; negative regulation of protein phosphorylation positive regulation of leukocyte migration G-protein coupled receptor activity bradykinin receptor activity protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration protein kinase C-activating G-protein coupled receptor signaling pathway response to mechanical stimulus membrane integral component of membrane cell migration sensory perception of pain negative regulation of cell growth response to lipopolysaccharide peptide binding neuron projection negative regulation of blood pressure positive regulation of release of sequestered calcium ion into cytosol  uc001yfh.1 uc001yfh.2 uc001yfh.3 uc001yfh.4 uc001yfh.5 
ENST00000216639.8 VRK1 ENST00000216639.8 Homo sapiens VRK serine/threonine kinase 1 (VRK1), mRNA. (from RefSeq NM_003384) ENST00000216639.1 ENST00000216639.2 ENST00000216639.3 ENST00000216639.4 ENST00000216639.5 ENST00000216639.6 ENST00000216639.7 NM_003384 Q3SYL2 Q99986 VRK1_HUMAN uc001yft.1 uc001yft.2 uc001yft.3 uc001yft.4 uc001yft.5 This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC103761.1, SRR1803611.253760.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216639.8/ ENSP00000216639.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine/threonine kinase involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, required to induce Golgi fragmentation. Acts by mediating phosphorylation of downstream target protein. Phosphorylates 'Thr- 18' of p53/TP53 and may thereby prevent the interaction between p53/TP53 and MDM2. Phosphorylates casein and histone H3. Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm. ATP + a protein = ADP + a phosphoprotein. Active in presence of Mn(2+), Mg(2+) and Zn(2+), but is not functional with Ca(2+) or Cu(2+). Has a higher affinity for Mn(2+) than for Mg(2+). RAN inhibits its autophosphorylation and its ability to phosphorylate histone H3. P15336:ATF2; NbExp=5; IntAct=EBI-1769146, EBI-1170906; P38432:COIL; NbExp=9; IntAct=EBI-1769146, EBI-945751; P05412:JUN; NbExp=4; IntAct=EBI-1769146, EBI-852823; Q9H4B4:PLK3; NbExp=12; IntAct=EBI-1769146, EBI-751877; P62826:RAN; NbExp=12; IntAct=EBI-1769146, EBI-286642; Q12888:TP53BP1; NbExp=8; IntAct=EBI-1769146, EBI-396540; Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle (By similarity). Note=Dispersed throughout the cell but not located on mitotic spindle or chromatids during mitosis. Widely expressed. Highly expressed in fetal liver, testis and thymus. Autophosphorylated at various serine and threonine residues. Autophosphorylation does not impair its ability to phosphorylate p53/TP53. Phosphorylation by PLK3 leads to induction of Golgi fragmentation during mitosis. Defects in VRK1 are the cause of pontocerebellar hypoplasia type 1A (PCH1A) [MIM:607596]; also called pontocerebellar hypoplasia with infantile spinal muscular atrophy or pontocerebellar hypoplasia with anterior horn cell disease. PCH1A is characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA). Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/VRK1ID43556ch14q32.html"; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm nucleolus cytoplasm Golgi stack spindle cytosol cytoskeleton protein phosphorylation cell cycle mitotic nuclear envelope disassembly mitotic nuclear envelope reassembly kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation protein kinase binding nucleosomal histone binding histone kinase activity (H3-S10 specific) histone H3-S10 phosphorylation protein autophosphorylation cell division histone kinase activity (H3-T3 specific) histone H3-T3 phosphorylation Golgi disassembly  uc001yft.1 uc001yft.2 uc001yft.3 uc001yft.4 uc001yft.5 
ENST00000216658.9 PAPLN ENST00000216658.9 Homo sapiens papilin, proteoglycan like sulfated glycoprotein (PAPLN), transcript variant 3, non-coding RNA. (from RefSeq NR_158678) B5MDP7 B5MDP7_HUMAN ENST00000216658.1 ENST00000216658.2 ENST00000216658.3 ENST00000216658.4 ENST00000216658.5 ENST00000216658.6 ENST00000216658.7 ENST00000216658.8 NR_158678 uc059dbw.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc059dbw.1 
ENST00000216714.8 APEX1 ENST00000216714.8 Homo sapiens apurinic/apyrimidinic endodeoxyribonuclease 1 (APEX1), transcript variant 1, mRNA. (from RefSeq NM_001641) ENST00000216714.1 ENST00000216714.2 ENST00000216714.3 ENST00000216714.4 ENST00000216714.5 ENST00000216714.6 ENST00000216714.7 NM_001641 Q5TZP7 Q5TZP7_HUMAN hCG_40473 uc001vxg.1 uc001vxg.2 uc001vxg.3 uc001vxg.4 uc001vxg.5 The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]. DNA binding nuclease activity endonuclease activity endoribonuclease activity nucleus transcription factor complex cytoplasm mitochondrion centrosome DNA repair cellular response to DNA damage stimulus aging response to organonitrogen compound negative regulation of smooth muscle cell migration hydrolase activity lyase activity response to drug macromolecular complex binding cell redox homeostasis metal ion binding NF-kappaB binding cellular response to hydrogen peroxide cellular response to cAMP cellular response to peptide hormone stimulus cellular response to organonitrogen compound nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic positive regulation of G1/S transition of mitotic cell cycle  uc001vxg.1 uc001vxg.2 uc001vxg.3 uc001vxg.4 uc001vxg.5 
ENST00000216727.9 PABPN1 ENST00000216727.9 Homo sapiens poly(A) binding protein nuclear 1 (PABPN1), transcript variant 1, mRNA. (from RefSeq NM_004643) D3DS49 ENST00000216727.1 ENST00000216727.2 ENST00000216727.3 ENST00000216727.4 ENST00000216727.5 ENST00000216727.6 ENST00000216727.7 ENST00000216727.8 NM_004643 O43484 PAB2 PABP2 PABP2_HUMAN Q86U42 uc001wjk.1 uc001wjk.2 uc001wjk.3 uc001wjk.4 uc001wjk.5 This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.332773.1, SRR1163655.418336.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity). Monomer and homooligomer. Binds RNA as a monomer and oligomerizes when bound to poly(A). Interacts with PAPOLA, but only in presence of oligo(A) RNA. Interacts with transportin (By similarity). Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Association in a ternary complex with CPSF4 and influenza A virus NS1 blocks pre-mRNAs processing, thereby preventing nuclear export of host cell mRNAs. Associates in a single complex with SKIP and MYOD1 and interacts with SKIP in differentiated myocytes. Interacts with NUDT21/CPSF5. Nucleus (By similarity). Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus. Its nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism. Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic. Nucleus; nuclear speckle. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86U42-1; Sequence=Displayed; Name=2; IsoId=Q86U42-2; Sequence=VSP_009847, VSP_009848; Note=May be due to a competing donor splice site; Name=3; Synonyms=BCL2L2-PABPN1; IsoId=Q92843-2; Sequence=External; Note=Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available; Ubiquitous. The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient for poly(A) binding (By similarity). Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By similarity). The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is expanded to 8-13 repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7 allele result in earlier onset and more severe clinical manifestations of the disease. Defects in PABPN1 are the cause of oculopharyngeal muscular dystrophy (OPMD) [MIM:164300]. OPMD is a form of late- onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. Intranuclear filamentous inclusions or "aggregates" are detected in the myocytes of patients; these inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA. The association of the expanded polyalanine mutations together with the capability to oligomerize may induce these inclusions and cell death. Expanded polyalanine mutations may either result from unequal crossing over during germ cell homologous recombination or from DNA slippage. The pathogenic mechanisms mediated by polyalanine expansion mutations may be either a general disruption of cellular RNA metabolism due to the trapping by the inclusions of PABPN1, mRNAs and/or nuclear proteins, resulting in the induction of cell death; or may change the normal muscle cell differentiation. Contains 1 RRM (RNA recognition motif) domain. Sequence=CAD62310.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PABPN1"; MAPK cascade mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm cytoplasm termination of RNA polymerase II transcription RNA processing mRNA processing muscle contraction nuclear speck poly(A)+ mRNA export from nucleus mRNA 3'-end processing nuclear inclusion body modification by virus of host mRNA processing RNA polymerase binding cellular response to lipopolysaccharide positive regulation of polynucleotide adenylyltransferase activity ribonucleoprotein complex  uc001wjk.1 uc001wjk.2 uc001wjk.3 uc001wjk.4 uc001wjk.5 
ENST00000216733.8 EFS ENST00000216733.8 Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA. (from RefSeq NM_005864) B2RAJ7 CASS3 EFS_HUMAN ENST00000216733.1 ENST00000216733.2 ENST00000216733.3 ENST00000216733.4 ENST00000216733.5 ENST00000216733.6 ENST00000216733.7 NM_005864 O43281 O43282 uc001wjo.1 uc001wjo.2 uc001wjo.3 uc001wjo.4 uc001wjo.5 uc001wjo.6 The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]. Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES (By similarity). Event=Alternative splicing; Named isoforms=2; Name=Efs1; IsoId=O43281-1; Sequence=Displayed; Name=Efs2; IsoId=O43281-2; Sequence=VSP_004232; The protein has been detected in lung and placenta. Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2- binding sites putatively bind CRK, NCK and ABL SH2 domains. The SH3-binding sites that bind to the SRC SH3 domain are required for interaction with CRK and are implicated in promotion of serum response element (SRE) activation. The SH3 domain interacts with PTK2/FAK1. Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC (By similarity). Belongs to the CAS family. Contains 1 SH3 domain. protein binding cytoplasm cell adhesion cell migration SH3 domain binding protein domain specific binding intracellular signal transduction actin filament reorganization plasma membrane  uc001wjo.1 uc001wjo.2 uc001wjo.3 uc001wjo.4 uc001wjo.5 uc001wjo.6 
ENST00000216743.6 ARHGAP5 ENST00000216743.6 Rho GTPase activating protein 5 (from HGNC ARHGAP5) AK023014 ENST00000216743.1 ENST00000216743.2 ENST00000216743.3 ENST00000216743.4 ENST00000216743.5 uc059apv.1  uc059apv.1 
ENST00000216756.11 CINP ENST00000216756.11 Homo sapiens cyclin dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA. (from RefSeq NM_032630) CINP_HUMAN ENST00000216756.1 ENST00000216756.10 ENST00000216756.2 ENST00000216756.3 ENST00000216756.4 ENST00000216756.5 ENST00000216756.6 ENST00000216756.7 ENST00000216756.8 ENST00000216756.9 NM_032630 Q9BW66 Q9NPF9 uc059fna.1 uc059fna.2 The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.143715.1, SRR1660803.130635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216756.11/ ENSP00000216756.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Interacts with the components of the replication complex and 2 kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication. Regulates ATR-mediated checkpoint signaling. Homodimer. Interacts with CDK2 and CDC7. Interacts with the components of the replication complex, MCM2, MCM3, MCM4, MCM5, MCM6, MCM7 and with ORC2-containing complexes. Interacts with ATRIP. Interacts with CEP152. Nucleus. Note=Binds to nuclear under G1 conditions, and dissociates from chromatin with the start of DNA replication. Phosphorylated by CDC7 but not by CDK2. Belongs to the CINP family. protein binding nucleus DNA replication DNA repair cellular response to DNA damage stimulus cell cycle cell division  uc059fna.1 uc059fna.2 
ENST00000216774.11 SRP54 ENST00000216774.11 Homo sapiens signal recognition particle 54 (SRP54), transcript variant 1, mRNA. (from RefSeq NM_003136) B2R759 B4DUW6 ENST00000216774.1 ENST00000216774.10 ENST00000216774.2 ENST00000216774.3 ENST00000216774.4 ENST00000216774.5 ENST00000216774.6 ENST00000216774.7 ENST00000216774.8 ENST00000216774.9 NM_003136 P13624 P61011 SRP54_HUMAN uc059asx.1 uc059asx.2 Binds to the signal sequence of presecretory protein when they emerge from the ribosomes and transfers them to TRAM (translocating chain-associating membrane protein). Signal recognition particle consists of a 7S RNA molecule of 300 nucleotides and six protein subunits: SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9. Interacts with RNPS1. Nucleus speckle. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61011-1; Sequence=Displayed; Name=2; IsoId=P61011-2; Sequence=VSP_043696; Note=No experimental confirmation available; Has a two domain structure: the G-domain binds GTP; the M- domain binds the 7S RNA in presence of SRP19 and also binds the signal sequence. Belongs to the GTP-binding SRP family. SRP54 subfamily. Name=Wikipedia; Note=Signal recognition particle entry; URL="http://en.wikipedia.org/wiki/Signal_recognition_particle"; nucleotide binding RNA binding GTPase activity protein binding GTP binding nucleus cytoplasm signal recognition particle, endoplasmic reticulum targeting cytosol SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane, translocation SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition drug binding 7S RNA binding nuclear speck GDP binding endoplasmic reticulum signal peptide binding response to drug ribonucleoprotein complex binding protein targeting to ER signal recognition particle nucleolus  uc059asx.1 uc059asx.2 
ENST00000216780.9 PCK2 ENST00000216780.9 Homo sapiens phosphoenolpyruvate carboxykinase 2, mitochondrial (PCK2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004563) ENST00000216780.1 ENST00000216780.2 ENST00000216780.3 ENST00000216780.4 ENST00000216780.5 ENST00000216780.6 ENST00000216780.7 ENST00000216780.8 NM_004563 O43253 PCKGM_HUMAN PEPCK2 Q16822 Q86U01 Q9BV62 uc001wlt.1 uc001wlt.2 uc001wlt.3 uc001wlt.4 uc001wlt.5 This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]. Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (By similarity). GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2). Manganese (By similarity). Binds 1 manganese ion per subunit (By similarity). Carbohydrate biosynthesis; gluconeogenesis. Monomer. P84022:SMAD3; NbExp=2; IntAct=EBI-2825219, EBI-347161; Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16822-1; Sequence=Displayed; Name=2; IsoId=Q16822-2; Sequence=VSP_038783; Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in PCK2 are the cause of mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]. A metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one. Belongs to the phosphoenolpyruvate carboxykinase [GTP] family. Sequence=CAD62600.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCK2"; nucleotide binding phosphoenolpyruvate carboxykinase activity phosphoenolpyruvate carboxykinase (GTP) activity protein binding GTP binding mitochondrion mitochondrial matrix cytosol pyruvate metabolic process gluconeogenesis lyase activity carboxy-lyase activity purine nucleotide binding propionate catabolic process manganese ion binding cellular response to insulin stimulus response to lipid response to starvation glycerol biosynthetic process from pyruvate metal ion binding hepatocyte differentiation cellular response to glucose stimulus cellular response to dexamethasone stimulus  uc001wlt.1 uc001wlt.2 uc001wlt.3 uc001wlt.4 uc001wlt.5 
ENST00000216797.10 NFKBIA ENST00000216797.10 Homo sapiens NFKB inhibitor alpha (NFKBIA), mRNA. (from RefSeq NM_020529) B2R8L6 ENST00000216797.1 ENST00000216797.2 ENST00000216797.3 ENST00000216797.4 ENST00000216797.5 ENST00000216797.6 ENST00000216797.7 ENST00000216797.8 ENST00000216797.9 IKBA IKBA_HUMAN MAD3 NFKBI NM_020529 P25963 uc001wtf.1 uc001wtf.2 uc001wtf.3 uc001wtf.4 uc001wtf.5 uc001wtf.6 This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC004983.1, M69043.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216797.10/ ENSP00000216797.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL dimers in the cytoplasm through masking of their nuclear localization signals. On cellular stimulation by immune and proinflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription. Interacts with RELA; the interaction requires the nuclear import signal. Interacts with NKIRAS1 and NKIRAS2. Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, IKBKAP and MAP3K14. Interacts with HBV protein X. Interacts with RWDD3; the interaction enhances sumoylation. Interacts (when phosphorylated at the 2 serine residues in the destruction motif D-S-G-X(2,3,4)-S) with BTRC. Associates with the SCF(BTRC) complex, composed of SKP1, CUL1 and BTRC; the association is mediated via interaction with BTRC. Part of a SCF(BTRC)-like complex lacking CUL1, which is associated with RELA; RELA interacts directly with NFKBIA. Interacts with PRMT2. Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen. Interacts with HIF1AN. Self; NbExp=2; IntAct=EBI-307386, EBI-307386; O15111:CHUK; NbExp=6; IntAct=EBI-307386, EBI-81249; Q60680-2:Chuk (xeno); NbExp=2; IntAct=EBI-307386, EBI-646264; Q8N668:COMMD1; NbExp=3; IntAct=EBI-307386, EBI-1550112; O14920:IKBKB; NbExp=9; IntAct=EBI-307386, EBI-81266; Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-307386, EBI-81279; P19838:NFKB1; NbExp=2; IntAct=EBI-307386, EBI-300010; Q04206:RELA; NbExp=12; IntAct=EBI-307386, EBI-73886; Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1-dependent nuclear export (By similarity). Induced in adherent monocytes. Phosphorylated; disables inhibition of NF-kappa-B DNA-binding activity. Phosphorylation at positions 32 and 36 is prerequisite to recognition by UBE2D3 leading to polyubiquitination and subsequent degradation. Sumoylated; sumoylation requires the presence of the nuclear import signal. Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3. Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. The resulting polyubiquitination leads to protein degradation. Also ubiquitinated by SCF(BTRC) following stimulus-dependent phosphorylation at Ser-32 and Ser-36. Deubiquitinated by porcine reproductive and respiratory syndrome virus Nsp2 protein, which thereby interferes with NFKBIA degradation and impairs subsequent NF-kappa-B activation. Defects in NFKBIA are the cause of ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant (ADEDAID) [MIM:612132]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADEDAID is an ectodermal dysplasia associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. Belongs to the NF-kappa-B inhibitor family. Contains 5 ANK repeats. Name=NFKBIAbase; Note=NFKBIA mutation db; URL="http://bioinf.uta.fi/NFKBIAbase/"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/nfkbia/"; protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane protein import into nucleus apoptotic process I-kappaB kinase/NF-kappaB signaling cytoplasmic sequestering of NF-kappaB transcription factor binding nuclear localization sequence binding regulation of gene expression negative regulation of macrophage derived foam cell differentiation positive regulation of cholesterol efflux negative regulation of lipid storage viral process protein deubiquitination enzyme binding ubiquitin protein ligase binding lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity positive regulation of cellular protein metabolic process response to muramyl dipeptide response to lipopolysaccharide tumor necrosis factor-mediated signaling pathway I-kappaB/NF-kappaB complex toll-like receptor 4 signaling pathway response to muscle stretch regulation of cell proliferation identical protein binding cytoplasmic sequestering of transcription factor negative regulation of apoptotic process response to exogenous dsRNA negative regulation of DNA binding negative regulation of myeloid cell differentiation negative regulation of Notch signaling pathway positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of inflammatory response NF-kappaB binding cellular response to cold nucleotide-binding oligomerization domain containing 1 signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway interleukin-1-mediated signaling pathway cellular response to tumor necrosis factor regulation of NIK/NF-kappaB signaling  uc001wtf.1 uc001wtf.2 uc001wtf.3 uc001wtf.4 uc001wtf.5 uc001wtf.6 
ENST00000216799.9 EMC9 ENST00000216799.9 Homo sapiens ER membrane protein complex subunit 9 (EMC9), transcript variant 1, mRNA. (from RefSeq NM_016049) C14orf122 CGI-112 D3DS60 EMC9_HUMAN ENST00000216799.1 ENST00000216799.2 ENST00000216799.3 ENST00000216799.4 ENST00000216799.5 ENST00000216799.6 ENST00000216799.7 ENST00000216799.8 FAM158A NM_016049 Q9BUM3 Q9Y3B6 uc001wmi.1 uc001wmi.2 uc001wmi.3 uc001wmi.4 Component of the ER membrane protein complex (EMC). Cytoplasm. Belongs to the EMC8/EMC9 family. protein binding cytoplasm ER membrane protein complex  uc001wmi.1 uc001wmi.2 uc001wmi.3 uc001wmi.4 
ENST00000216802.10 PSME2 ENST00000216802.10 Homo sapiens proteasome activator subunit 2 (PSME2), mRNA. (from RefSeq NM_002818) ENST00000216802.1 ENST00000216802.2 ENST00000216802.3 ENST00000216802.4 ENST00000216802.5 ENST00000216802.6 ENST00000216802.7 ENST00000216802.8 ENST00000216802.9 NM_002818 PSME2_HUMAN Q15129 Q9UL46 uc001wmj.1 uc001wmj.2 uc001wmj.3 uc001wmj.4 uc001wmj.5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK026580.1, SRR1163655.105740.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216802.10/ ENSP00000216802.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Implicated in immunoproteasome assembly and required for efficient antigen processing. The PA28 activator complex enhances the generation of class I binding peptides by altering the cleavage pattern of the proteasome. Heterodimer of PSME1 and PSME2, which forms a hexameric ring. By IFNG/IFN-gamma. Belongs to the PA28 family. MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding nucleoplasm cytoplasm cytosol regulation of cellular amino acid metabolic process proteasome activator complex positive regulation of endopeptidase activity negative regulation of G2/M transition of mitotic cell cycle membrane protein deubiquitination anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway interleukin-12-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway identical protein binding proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway endopeptidase activator activity regulation of proteasomal protein catabolic process regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation regulation of G1/S transition of mitotic cell cycle  uc001wmj.1 uc001wmj.2 uc001wmj.3 uc001wmj.4 uc001wmj.5 
ENST00000216807.12 BRMS1L ENST00000216807.12 Homo sapiens BRMS1 like transcriptional repressor (BRMS1L), mRNA. (from RefSeq NM_032352) A6NFW5 A6NH45 BRM1L_HUMAN ENST00000216807.1 ENST00000216807.10 ENST00000216807.11 ENST00000216807.2 ENST00000216807.3 ENST00000216807.4 ENST00000216807.5 ENST00000216807.6 ENST00000216807.7 ENST00000216807.8 ENST00000216807.9 NM_032352 Q5PSV4 Q9BRI4 uc001wtl.1 uc001wtl.2 uc001wtl.3 uc001wtl.4 uc001wtl.5 The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.414428.1, SRR3476690.829117.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216807.12/ ENSP00000216807.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the histone deacetylase (HDAC1)-dependent transcriptional repression activity. When overexpressed in lung cancer cell line that lacks p53/TP53 expression, inhibits cell growth. Component of the Sin3/HDAC1 corepressor complex at least composed of BRMS1, BRMS1L and ING2/ING1L. Interacts with HDAC and SIN3A. Nucleus (Probable). Belongs to the BRMS1 family. negative regulation of transcription from RNA polymerase II promoter protein binding nucleus histone deacetylation regulation of growth histone deacetylase binding Sin3-type complex histone deacetylase activity  uc001wtl.1 uc001wtl.2 uc001wtl.3 uc001wtl.4 uc001wtl.5 
ENST00000216832.9 PNN ENST00000216832.9 Homo sapiens pinin, desmosome associated protein (PNN), mRNA. (from RefSeq NM_002687) B4DZX8 DRS ENST00000216832.1 ENST00000216832.2 ENST00000216832.3 ENST00000216832.4 ENST00000216832.5 ENST00000216832.6 ENST00000216832.7 ENST00000216832.8 MEMA NM_002687 O60899 PININ_HUMAN Q53EM7 Q6P5X4 Q7KYL1 Q99738 Q9H307 Q9UHZ9 Q9UQR9 uc001wuw.1 uc001wuw.2 uc001wuw.3 uc001wuw.4 uc001wuw.5 uc001wuw.6 Transcriptional activator binding to the E-box 1 core sequence of the E-cadherin promoter gene; the core-binding sequence is 5'CAGGTG-3'. Capable of reversing CTBP1-mediated transcription repression. Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Participates in the regulation of alternative pre-mRNA splicing. Associates to spliced mRNA within 60 nt upstream of the 5'-splice sites. Involved in the establishment and maintenance of epithelia cell-cell adhesion. Potential tumor suppressor for renal cell carcinoma. Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Found in a complex with SR proteins. Found in a mRNP complex with RNPS1. Interacts with C6orf111/SRRP130, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2. Identified in the spliceosome C complex. Q9UBC1:NFKBIL1; NbExp=1; IntAct=EBI-681904, EBI-1043728; Q15287:RNPS1; NbExp=1; IntAct=EBI-681904, EBI-395959; Nucleus speckle. Cell junction, desmosome. Note=Cell-cell contact area, predominantly desmosome of intercellular adherens junction. Not a nucleocytoplasmic shuttling protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H307-1; Sequence=Displayed; Name=2; IsoId=Q9H307-2; Sequence=VSP_015307; Expressed in placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, epidermis, esophagus, brain and smooth and skeletal muscle. Expressed strongly in melanoma metastasis lesions and advanced primary tumors. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the pinin family. mRNA splicing, via spliceosome DNA binding RNA binding structural molecule activity protein binding nucleus spliceosomal complex intermediate filament plasma membrane cell-cell junction mRNA processing cell adhesion RNA splicing membrane nuclear speck cell junction desmosome exon-exon junction complex catalytic step 2 spliceosome  uc001wuw.1 uc001wuw.2 uc001wuw.3 uc001wuw.4 uc001wuw.5 uc001wuw.6 
ENST00000216840.11 RABGGTA ENST00000216840.11 Homo sapiens Rab geranylgeranyltransferase subunit alpha (RABGGTA), transcript variant 1, mRNA. (from RefSeq NM_182836) A8K5N2 D3DS69 ENST00000216840.1 ENST00000216840.10 ENST00000216840.2 ENST00000216840.3 ENST00000216840.4 ENST00000216840.5 ENST00000216840.6 ENST00000216840.7 ENST00000216840.8 ENST00000216840.9 NM_182836 PGTA_HUMAN Q92696 uc001wog.1 uc001wog.2 uc001wog.3 uc001wog.4 uc001wog.5 uc001wog.6 Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines in Rab proteins with an -XXCC, -XCXC and -CCXX C-terminal, such as RAB1A, RAB3A and RAB5A respectively. Geranylgeranyl diphosphate + protein-cysteine = S-geranylgeranyl-protein + diphosphate. Binds 1 zinc ion per dimer (By similarity). The enzymatic reaction requires the aid of a Rab escort protein (also called component A). Heterodimer of an alpha and a beta subunit, collectively called component B. The Rab GGTase dimer (RGGT) can associate with CHM (component A) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp. Belongs to the protein prenyltransferase subunit alpha family. Contains 5 LRR (leucine-rich) repeats. Contains 6 PFTA repeats. prenyltransferase activity Rab geranylgeranyltransferase activity protein binding nucleoplasm cytoplasm cytosol plasma membrane Rab-protein geranylgeranyltransferase complex cellular protein modification process visual perception zinc ion binding protein prenyltransferase activity transferase activity Rab GTPase binding protein prenylation protein geranylgeranylation regulation of apoptotic process post-translational protein modification protein heterodimerization activity macromolecular complex assembly  uc001wog.1 uc001wog.2 uc001wog.3 uc001wog.4 uc001wog.5 uc001wog.6 
ENST00000216862.8 CYP24A1 ENST00000216862.8 Homo sapiens cytochrome P450 family 24 subfamily A member 1 (CYP24A1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000782) CP24A_HUMAN CYP24 ENST00000216862.1 ENST00000216862.2 ENST00000216862.3 ENST00000216862.4 ENST00000216862.5 ENST00000216862.6 ENST00000216862.7 NM_000782 Q07973 Q15807 Q32ML3 uc002xwv.1 uc002xwv.2 uc002xwv.3 uc002xwv.4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Has a role in maintaining calcium homeostasis. Catalyzes the NADPH-dependent 24-hydroxylation of calcidiol (25- hydroxyvitamin D(3)) and calcitriol (1-alpha,25-dihydroxyvitamin D(3)). The enzyme can perform up to 6 rounds of hydroxylation of calcitriol leading to calcitroic acid. It also shows 23- hydroxylating activity leading to 1-alpha,25-dihydroxyvitamin D(3)-26,23-lactone as end product. Calcitriol + NADPH + O(2) = calcitetrol + NADP(+) + H(2)O. Calcidiol + NADPH + O(2) = secalciferol + NADP(+) + H(2)O. Heme group (By similarity). Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q07973-1; Sequence=Displayed; Name=2; IsoId=Q07973-2; Sequence=VSP_043101; Note=No experimental confirmation available; Defects in CYP24A1 are the cause of hypercalcemia infantile (HCAI) [MIM:143880]. HCAI is a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Belongs to the cytochrome P450 family. osteoblast differentiation monooxygenase activity iron ion binding nucleus nucleoplasm mitochondrion mitochondrial outer membrane plasma membrane vitamin metabolic process 25-hydroxycholecalciferol-24-hydroxylase activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity response to vitamin D vitamin D metabolic process vitamin D catabolic process metal ion binding oxidation-reduction process vitamin D receptor signaling pathway  uc002xwv.1 uc002xwv.2 uc002xwv.3 uc002xwv.4 
ENST00000216877.10 PTPRA ENST00000216877.10 Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. (from UniProt P18433) A8K2G8 D3DVX5 ENST00000216877.1 ENST00000216877.2 ENST00000216877.3 ENST00000216877.4 ENST00000216877.5 ENST00000216877.6 ENST00000216877.7 ENST00000216877.8 ENST00000216877.9 NR_170936 P18433 PTPA PTPRA_HUMAN PTPRL2 Q14513 Q7Z2I2 Q96TD9 uc002whk.1 uc002whk.2 uc002whk.3 uc002whk.4 Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=P18433-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P18433-2; Sequence=VSP_005145; Name=3; IsoId=P18433-3; Sequence=VSP_007776, VSP_007777; Name=4; IsoId=P18433-4; Sequence=VSP_007777; Belongs to the protein-tyrosine phosphatase family. Receptor class 4 subfamily. Contains 2 tyrosine-protein phosphatase domains. MAPK cascade phosphoprotein phosphatase activity protein tyrosine phosphatase activity transmembrane receptor protein tyrosine phosphatase activity protein binding plasma membrane integral component of plasma membrane protein phosphorylation protein dephosphorylation axon guidance insulin receptor signaling pathway membrane integral component of membrane dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation receptor complex modulation of synaptic transmission extracellular exosome  uc002whk.1 uc002whk.2 uc002whk.3 uc002whk.4 
ENST00000216879.9 NSFL1C ENST00000216879.9 Homo sapiens NSFL1 cofactor (NSFL1C), transcript variant 1, mRNA. (from RefSeq NM_016143) A2A2L1 B2RD74 ENST00000216879.1 ENST00000216879.2 ENST00000216879.3 ENST00000216879.4 ENST00000216879.5 ENST00000216879.6 ENST00000216879.7 ENST00000216879.8 NM_016143 NSF1C_HUMAN Q5JXA4 Q5JXA5 Q7Z533 Q9H102 Q9NVL9 Q9UI06 Q9UNZ2 UBXN2C uc002wfc.1 uc002wfc.2 uc002wfc.3 uc002wfc.4 N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]. Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP- mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro). Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer that binds to one end of a VCP homohexamer. The complex binds to membranes enriched in phosphatidylethanolamine-containing lipids and promotes Golgi membrane fusion. Interaction with VCIP135 leads to dissociation of the complex via ATP hydrolysis by VCP. Binds ubiquitin and mono- ubiquitinated proteins via its N-terminal UBA-like domain when bound to VCP (By similarity). Nucleus (By similarity). Golgi apparatus, Golgi stack (By similarity). Chromosome (By similarity). Note=Predominantly nuclear in interphase cells. Bound to the axial elements of sex chromosomes in pachytene spermatocytes. A small proportion of the protein is cytoplasmic, associated with Golgi stacks (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UNZ2-1; Sequence=Displayed; Name=2; IsoId=Q9UNZ2-4; Sequence=VSP_009263; Note=No experimental confirmation available; Name=3; IsoId=Q9UNZ2-5; Sequence=VSP_009262; Name=4; IsoId=Q9UNZ2-6; Sequence=VSP_041062; Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the fragmentation of the Golgi stacks during mitosis (By similarity). Belongs to the NSFL1C family. Contains 1 SEP domain. Contains 1 UBX domain. Sequence=AAF17199.1; Type=Frameshift; Positions=Several; Sequence=AAF17199.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; autophagosome assembly establishment of mitotic spindle orientation protein binding phospholipid binding nucleus nucleoplasm chromosome cytoplasm Golgi apparatus Golgi stack microtubule organizing center cytosol cytoskeleton plasma membrane Golgi organization lipid binding nuclear envelope reassembly spindle pole centrosome ubiquitin binding proteasome-mediated ubiquitin-dependent protein catabolic process intermediate filament cytoskeleton positive regulation of mitotic centrosome separation ATPase binding membrane fusion negative regulation of protein localization to centrosome VCP-NSFL1C complex  uc002wfc.1 uc002wfc.2 uc002wfc.3 uc002wfc.4 
ENST00000216923.5 ZFP64 ENST00000216923.5 Homo sapiens ZFP64 zinc finger protein (ZFP64), transcript variant 1, mRNA. (from RefSeq NM_018197) A2A2N4 ENST00000216923.1 ENST00000216923.2 ENST00000216923.3 ENST00000216923.4 NM_018197 Q53H69 Q53XQ1 Q5JWM0 Q8WU98 Q9H9P1 Q9NTW7 ZF64B_HUMAN ZNF338 uc002xwl.1 uc002xwl.2 uc002xwl.3 uc002xwl.4 uc002xwl.5 May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=5; Name=3; IsoId=Q9NTW7-1; Sequence=Displayed; Name=4; Synonyms=ZNF338; IsoId=Q9NTW7-2; Sequence=VSP_007285, VSP_007286; Name=1; IsoId=Q9NPA5-1; Sequence=External; Name=2; IsoId=Q9NPA5-2; Sequence=External; Name=5; IsoId=Q9NTW7-3; Sequence=VSP_038213, VSP_038214; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers. nucleic acid binding DNA binding protein binding nucleus metal ion binding  uc002xwl.1 uc002xwl.2 uc002xwl.3 uc002xwl.4 uc002xwl.5 
ENST00000216927.4 SIRPG ENST00000216927.4 Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T- cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. (from UniProt Q9P1W8) AY748247 B1AKP6 ENST00000216927.1 ENST00000216927.2 ENST00000216927.3 Q5D051 Q5JV25 Q5MKL4 Q8WWA5 Q9NQK8 Q9P1W8 SIRPB2 SIRPG_HUMAN uc061uzs.1 Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T- cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. Interacts with CD47. Q08722:CD47; NbExp=2; IntAct=EBI-1268284, EBI-1268321; Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9P1W8-1; Sequence=Displayed; Name=2; IsoId=Q9P1W8-2; Sequence=VSP_007027; Note=No experimental confirmation available; Name=3; IsoId=Q9P1W8-3; Sequence=VSP_007028; Note=No experimental confirmation available; Name=4; IsoId=Q9P1W8-4; Sequence=VSP_026960; Detected in liver, and at very low levels in brain, heart, lung, pancreas, kidney, placenta and skeletal muscle. Expressed on CD4+ T-cells, CD8+ T-cells, CD56-bright natural killer (NK) cells, CD20+ cells, and all activated NK cells. Mainly present in the paracortical T-cell area of lymph nodes, with only sparse positive cells in the mantle and in the germinal center of B-cell follicles. In the thymus, primarily expressed in the medulla on mature T-lymphocytes that have undergone thymic selection. Contains 2 Ig-like C1-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. protein binding plasma membrane cell adhesion cell-cell signaling positive regulation of cell proliferation negative regulation of cell proliferation membrane integral component of membrane positive regulation of cell-cell adhesion intracellular signal transduction positive regulation of phagocytosis positive regulation of T cell activation leukocyte migration  uc061uzs.1 
ENST00000216962.9 PYGB ENST00000216962.9 Homo sapiens glycogen phosphorylase B (PYGB), mRNA. (from RefSeq NM_002862) ENST00000216962.1 ENST00000216962.2 ENST00000216962.3 ENST00000216962.4 ENST00000216962.5 ENST00000216962.6 ENST00000216962.7 ENST00000216962.8 NM_002862 P11216 PYGB_HUMAN Q96AK1 Q9NPX8 uc002wup.1 uc002wup.2 uc002wup.3 uc002wup.4 uc002wup.5 The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.211977.1, SRR1660807.231969.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216962.9/ ENSP00000216962.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Phosphorylase is an important allosteric enzyme in carbohydrate metabolism. Enzymes from different sources differ in their regulatory mechanisms and in their natural substrates. However, all known phosphorylases share catalytic and structural properties. (1,4-alpha-D-glucosyl)(n) + phosphate = (1,4- alpha-D-glucosyl)(n-1) + alpha-D-glucose 1-phosphate. Pyridoxal phosphate. Activity of phosphorylase is controlled both by allosteric means (through the non-covalent binding of metabolites) and by covalent modification. Thus AMP allosterically activates, whereas ATP, ADP, and glucose-6-phosphate allosterically inhibit, phosphorylase B. Homodimer. Dimers associate into a tetramer to form the enzymatically active phosphorylase A. Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Belongs to the glycogen phosphorylase family. catalytic activity phosphorylase activity protein binding extracellular region cytoplasm carbohydrate metabolic process glycogen metabolic process glycogen catabolic process metabolic process glycogen phosphorylase activity membrane transferase activity transferase activity, transferring glycosyl groups pyridoxal phosphate binding azurophil granule lumen neutrophil degranulation extracellular exosome  uc002wup.1 uc002wup.2 uc002wup.3 uc002wup.4 uc002wup.5 
ENST00000216968.5 PROCR ENST00000216968.5 Homo sapiens protein C receptor (PROCR), mRNA. (from RefSeq NM_006404) B2RC04 ENST00000216968.1 ENST00000216968.2 ENST00000216968.3 ENST00000216968.4 EPCR EPCR_HUMAN NM_006404 Q14218 Q6IB56 Q96CB3 Q9ULX1 Q9UNN8 uc002xbt.1 uc002xbt.2 uc002xbt.3 uc002xbt.4 uc002xbt.5 uc002xbt.6 The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014451.1, SRR5189652.204729.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216968.5/ ENSP00000216968.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation. P25116:F2R; NbExp=3; IntAct=EBI-719705, EBI-2803960; Membrane; Single-pass type I membrane protein. Expressed strongly in the endothelial cells of arteries and veins in heart and lung, less intensely in capillaries in the lung and skin, and not at all in the endothelium of small vessels of the liver and kidney. N-glycosylated. A soluble form exists; probably released by a metalloprotease. Seems to have the same activity as the membrane- bound form. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/procr/"; protein binding extracellular region extracellular space centrosome plasma membrane integral component of plasma membrane focal adhesion blood coagulation hemostasis cell surface membrane integral component of membrane signaling receptor activity perinuclear region of cytoplasm negative regulation of coagulation extracellular exosome  uc002xbt.1 uc002xbt.2 uc002xbt.3 uc002xbt.4 uc002xbt.5 uc002xbt.6 
ENST00000217026.5 MYBL2 ENST00000217026.5 Homo sapiens MYB proto-oncogene like 2 (MYBL2), transcript variant 1, mRNA. (from RefSeq NM_002466) B2RBS5 BMYB ENST00000217026.1 ENST00000217026.2 ENST00000217026.3 ENST00000217026.4 MYBB_HUMAN NM_002466 P10244 uc002xlb.1 uc002xlb.2 uc002xlb.3 uc002xlb.4 The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]. Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene. Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL22. Nucleus. Phosphorylated by cyclin A/CDK2 during S-phase. Phosphorylation at Thr-520 is probably involved in transcriptional activity. Contains 3 HTH myb-type DNA-binding domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MYBL2ID41469ch20q13.html"; mitotic cell cycle RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter Myb complex positive regulation of neuron apoptotic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of cell cycle mitotic spindle assembly cellular response to leukemia inhibitory factor  uc002xlb.1 uc002xlb.2 uc002xlb.3 uc002xlb.4 
ENST00000217043.4 R3HDML ENST00000217043.4 Homo sapiens R3H domain containing like (R3HDML), mRNA. (from RefSeq NM_178491) CRSPL_HUMAN ENST00000217043.1 ENST00000217043.2 ENST00000217043.3 NM_178491 Q9H3Y0 uc002xls.1 uc002xls.2 uc002xls.3 uc002xls.4 uc002xls.5 Putative serine protease inhibitor (By similarity). Secreted (Potential). Belongs to the CRISP family. Despite its name, it does not contain a R3H domain. extracellular region extracellular space negative regulation of peptidase activity peptidase inhibitor activity  uc002xls.1 uc002xls.2 uc002xls.3 uc002xls.4 uc002xls.5 
ENST00000217073.7 PABPC1L ENST00000217073.7 Homo sapiens poly(A) binding protein cytoplasmic 1 like (PABPC1L), transcript variant 5, non-coding RNA. (from RefSeq NR_134987) A0A6Q8JFT6 ENST00000217073.1 ENST00000217073.2 ENST00000217073.3 ENST00000217073.4 ENST00000217073.5 ENST00000217073.6 NR_134987 uc061xgi.1 uc061xgi.2 This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019].  uc061xgi.1 uc061xgi.2 
ENST00000217074.9 PABPC1L ENST00000217074.9 poly(A) binding protein cytoplasmic 1 like (from HGNC PABPC1L) A0A6Q8JFV4 ENST00000217074.1 ENST00000217074.2 ENST00000217074.3 ENST00000217074.4 ENST00000217074.5 ENST00000217074.6 ENST00000217074.7 ENST00000217074.8 EU190483 uc061xgg.1 uc061xgg.2  uc061xgg.1 uc061xgg.2 
ENST00000217075.7 PABPC1L ENST00000217075.7 poly(A) binding protein cytoplasmic 1 like (from HGNC PABPC1L) BC039151 C20orf119 ENST00000217075.1 ENST00000217075.2 ENST00000217075.3 ENST00000217075.4 ENST00000217075.5 ENST00000217075.6 Q4VXT5 Q4VXT5_HUMAN RP5-1069P2.6-011 uc061xgn.1 uc061xgn.2 RNA binding  uc061xgn.1 uc061xgn.2 
ENST00000217086.9 SALL4 ENST00000217086.9 Homo sapiens spalt like transcription factor 4 (SALL4), transcript variant 1, mRNA. (from RefSeq NM_020436) ENST00000217086.1 ENST00000217086.2 ENST00000217086.3 ENST00000217086.4 ENST00000217086.5 ENST00000217086.6 ENST00000217086.7 ENST00000217086.8 NM_020436 Q540H3 Q9UJQ4 SALL4_HUMAN ZNF797 uc002xwh.1 uc002xwh.2 uc002xwh.3 uc002xwh.4 uc002xwh.5 uc002xwh.6 uc002xwh.7 This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. Probable transcription factor. Interacts with NANOG (By similarity). Nucleus (Probable). Expressed in testis. Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome. Defects in SALL4 are the cause of oculootoradial syndrome (OORS) [MIM:147750]. Oculootoradial syndrome is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. Belongs to the sal C2H2-type zinc-finger protein family. Contains 7 C2H2-type zinc fingers. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SALL4"; negative regulation of transcription from RNA polymerase II promoter heterochromatin in utero embryonic development inner cell mass cell proliferation neural tube closure ventricular septum development nucleic acid binding DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated heart development transcription factor binding tissue development stem cell population maintenance neural tube development embryonic limb morphogenesis macromolecular complex somatic stem cell population maintenance intracellular membrane-bounded organelle positive regulation of transcription from RNA polymerase II promoter metal ion binding  uc002xwh.1 uc002xwh.2 uc002xwh.3 uc002xwh.4 uc002xwh.5 uc002xwh.6 uc002xwh.7 
ENST00000217109.9 CSTF1 ENST00000217109.9 Homo sapiens cleavage stimulation factor subunit 1 (CSTF1), transcript variant 2, mRNA. (from RefSeq NM_001324) CSTF1_HUMAN ENST00000217109.1 ENST00000217109.2 ENST00000217109.3 ENST00000217109.4 ENST00000217109.5 ENST00000217109.6 ENST00000217109.7 ENST00000217109.8 NM_001324 Q05048 Q5QPD8 uc002xxm.1 uc002xxm.2 uc002xxm.3 This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]. One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. May be responsible for the interaction of CSTF with other factors to form a stable complex on the pre-mRNA. Homodimer. The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit). Interacts directly with CSTF3. Interacts with BARD1. Q99728:BARD1; NbExp=4; IntAct=EBI-1789619, EBI-473181; Q9H0E2:TOLLIP; NbExp=2; IntAct=EBI-1789619, EBI-74615; Nucleus. The WD6 domain is required for interaction with BARD1. WD domains are responsible for interaction with CSTF3. N-terminus mediates homodimerization. The N-terminus is blocked. Contains 6 WD repeats. Sequence=CAC12718.2; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm mRNA cleavage stimulating factor complex termination of RNA polymerase II transcription mRNA processing mRNA 3'-end processing  uc002xxm.1 uc002xxm.2 uc002xxm.3 
ENST00000217121.9 TPD52L2 ENST00000217121.9 Homo sapiens TPD52 like 2 (TPD52L2), transcript variant 1, mRNA. (from RefSeq NM_199360) E1P5G7 ENST00000217121.1 ENST00000217121.2 ENST00000217121.3 ENST00000217121.4 ENST00000217121.5 ENST00000217121.6 ENST00000217121.7 ENST00000217121.8 NM_199360 O43398 O43399 Q5JWU5 Q5JWU8 Q5U0E0 Q9H3Z6 TPD54_HUMAN uc002ygy.1 uc002ygy.2 uc002ygy.3 uc002ygy.4 This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]. Forms homodimer or heterodimer with other members of the family (By similarity). Interacts with MAL2. Q62393:Tpd52 (xeno); NbExp=2; IntAct=EBI-782616, EBI-782591; Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist; Name=1; Synonyms=HD54+ins2; IsoId=O43399-1; Sequence=Displayed; Name=2; Synonyms=HD54-ins2; IsoId=O43399-2; Sequence=VSP_006547; Name=3; IsoId=O43399-3; Sequence=VSP_006547, VSP_036756; Name=4; IsoId=O43399-4; Sequence=VSP_006547, VSP_038361; Name=5; IsoId=O43399-5; Sequence=VSP_038361; Note=No experimental confirmation available; Belongs to the TPD52 family. RNA binding catalytic activity protein binding cytoplasm regulation of cell proliferation protein homodimerization activity protein heterodimerization activity perinuclear region of cytoplasm  uc002ygy.1 uc002ygy.2 uc002ygy.3 uc002ygy.4 
ENST00000217131.6 CTSZ ENST00000217131.6 Homo sapiens cathepsin Z (CTSZ), mRNA. (from RefSeq NM_001336) B2RC40 CATZ_HUMAN ENST00000217131.1 ENST00000217131.2 ENST00000217131.3 ENST00000217131.4 ENST00000217131.5 NM_001336 O75331 Q9UBR2 Q9UQV5 Q9UQV6 uc002yai.1 uc002yai.2 uc002yai.3 uc002yai.4 The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.203888.1, AF136273.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217131.6/ ENSP00000217131.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Exhibits carboxy-monopeptidase as well as carboxy- dipeptidase activity. Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity. Lysosome. Widely expressed. Belongs to the peptidase C1 family. Golgi membrane angiotensin maturation carboxypeptidase activity cysteine-type endopeptidase activity protein binding extracellular region extracellular space lysosome endoplasmic reticulum endoplasmic reticulum lumen plasma membrane proteolysis ER to Golgi vesicle-mediated transport peptidase activity cysteine-type peptidase activity cell surface negative regulation of plasminogen activation negative regulation of neuron projection development hydrolase activity ER to Golgi transport vesicle growth cone cytoplasmic vesicle negative regulation of protein binding endoplasmic reticulum-Golgi intermediate compartment membrane specific granule lumen intracellular membrane-bounded organelle neutrophil degranulation positive regulation of neuron apoptotic process COPII vesicle coating proteolysis involved in cellular protein catabolic process epithelial tube branching involved in lung morphogenesis extracellular exosome cell cortex region regulation of neuron death ficolin-1-rich granule lumen positive regulation of neural precursor cell proliferation  uc002yai.1 uc002yai.2 uc002yai.3 uc002yai.4 
ENST00000217133.2 TUBB1 ENST00000217133.2 Homo sapiens tubulin beta 1 class VI (TUBB1), mRNA. (from RefSeq NM_030773) ENST00000217133.1 NM_030773 Q9H4B7 TBB1_HUMAN uc002yak.1 uc002yak.2 uc002yak.3 uc002yak.4 This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ292757.1, BC033679.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217133.2/ ENSP00000217133.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain (By similarity). Dimer of alpha and beta chains (By similarity). Interacts with RANBP10. Cytoplasm, cytoskeleton. Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins. Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable). Defects in TUBB1 are a cause of macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1) [MIM:613112]. It is a congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding cytoplasm cytoskeleton microtubule microtubule-based process spindle assembly extracellular exosome  uc002yak.1 uc002yak.2 uc002yak.3 uc002yak.4 
ENST00000217159.6 SLCO4A1 ENST00000217159.6 Homo sapiens solute carrier organic anion transporter family member 4A1 (SLCO4A1), mRNA. (from RefSeq NM_016354) ENST00000217159.1 ENST00000217159.2 ENST00000217159.3 ENST00000217159.4 ENST00000217159.5 NM_016354 OATP1 OATP4A1 OATPE Q96BD0 Q9H4T7 Q9H4T8 Q9H8P2 Q9NWX8 Q9UI35 Q9UIG7 SLC21A12 SO4A1_HUMAN uc002ydb.1 uc002ydb.2 Mediates the Na(+)-independent transport of organic anions such as the thyroid hormones T3 (triiodo-L-thyronine), T4 (thyroxine) and rT3, and of estrone-3-sulfate and taurocholate. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=4; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q96BD0-1; Sequence=Displayed; Name=2; IsoId=Q96BD0-2; Sequence=VSP_006152, VSP_006156; Name=3; IsoId=Q96BD0-3; Sequence=VSP_006153, VSP_006155; Name=4; IsoId=Q96BD0-4; Sequence=VSP_006154; Ubiquitous, with the exception of spleen and leukocytes. Belongs to the organo anion transporter (TC 2.A.60) family. Contains 1 Kazal-like domain. Sequence=BAA91247.1; Type=Erroneous initiation; plasma membrane integral component of plasma membrane ion transport sodium-independent organic anion transmembrane transporter activity thyroid hormone transmembrane transporter activity membrane integral component of membrane sodium-independent organic anion transport transmembrane transport thyroid hormone transport  uc002ydb.1 uc002ydb.2 
ENST00000217162.5 TCFL5 ENST00000217162.5 Contains 1 basic helix-loop-helix (bHLH) domain. (from UniProt F8W9A4) BC046933 ENST00000217162.1 ENST00000217162.2 ENST00000217162.3 ENST00000217162.4 F8W9A4 F8W9A4_HUMAN uc061ykb.1 Contains 1 basic helix-loop-helix (bHLH) domain. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. transcription factor activity, sequence-specific DNA binding regulation of transcription, DNA-templated spermatogenesis protein dimerization activity  uc061ykb.1 
ENST00000217169.8 BIRC7 ENST00000217169.8 Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA. (from RefSeq NM_139317) BIRC7_HUMAN ENST00000217169.1 ENST00000217169.2 ENST00000217169.3 ENST00000217169.4 ENST00000217169.5 ENST00000217169.6 ENST00000217169.7 KIAP LIVIN MLIAP NM_139317 Q96CA5 Q9BQV0 Q9H2A8 Q9HAP7 RNF50 UNQ5800/PRO19607/PRO21344 uc002yej.1 uc002yej.2 uc002yej.3 uc002yej.4 uc002yej.5 This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]. Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. This activation depends on TAB1 and NR2C2/TAK1. In vitro, inhibits CASP3 and proteolytic activation of pro-CASP9. Isoform 1 blocks staurosporine-induced apoptosis. Isoform 2 blocks etoposide-induced apoptosis. Isoform 2 protects against natural killer (NK) cell killing whereas isoform 1 augments killing. Binds to CASP9. Interaction with DIABLO/SMAC via the BIR domain disrupts binding to CASP9 and apoptotic suppressor activity. Interacts with TAB1. In vitro, interacts with CASP3 and CASP7 via its BIR domain. P55211:CASP9; NbExp=5; IntAct=EBI-517623, EBI-516799; Q9NR28:DIABLO; NbExp=6; IntAct=EBI-517623, EBI-517508; O43464:HTRA2; NbExp=2; IntAct=EBI-517623, EBI-517086; Nucleus. Cytoplasm. Golgi apparatus. Note=Nuclear, and in a filamentous pattern throughout the cytoplasm. Full-length livin is detected exclusively in the cytoplasm, whereas the truncated form (tLivin) is found in the peri-nuclear region with marked localization to the Golgi apparatus; the accumulation of tLivin in the nucleus shows positive correlation with the increase in apoptosis. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=Livin alpha; IsoId=Q96CA5-1; Sequence=Displayed; Name=1; Synonyms=Livin beta; IsoId=Q96CA5-2; Sequence=VSP_002459; Isoform 1 and isoform 2 are expressed at very low levels or not detectable in most adult tissues. Detected in adult heart, placenta, lung, lymph node, spleen and ovary, and in several carcinoma cell lines. Isoform 2 is detected in fetal kidney, heart and spleen, and at lower levels in adult brain, skeletal muscle and peripheral blood leukocytes. The RING domain is essential for autoubiquitination. Autoubiquitinated and undergoes proteasome-mediated degradation. The truncated protein (tLivin) not only loses its anti- apoptotic effect but also acquires a pro-apoptotic effect. Belongs to the IAP family. Contains 1 BIR repeat. Contains 1 RING-type zinc finger. ubiquitin-protein transferase activity cysteine-type endopeptidase inhibitor activity protein binding nucleus cytoplasm Golgi apparatus microtubule organizing center cytosol apoptotic process activation of JUN kinase activity negative regulation of peptidase activity protein ubiquitination transferase activity enzyme binding peptidase inhibitor activity positive regulation of protein ubiquitination regulation of cell proliferation cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process metal ion binding ubiquitin protein ligase activity regulation of natural killer cell apoptotic process inhibition of cysteine-type endopeptidase activity involved in apoptotic process  uc002yej.1 uc002yej.2 uc002yej.3 uc002yej.4 uc002yej.5 
ENST00000217173.7 UBOX5 ENST00000217173.7 Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA. (from RefSeq NM_014948) ENST00000217173.1 ENST00000217173.2 ENST00000217173.3 ENST00000217173.4 ENST00000217173.5 ENST00000217173.6 KIAA0860 NM_014948 O94941 Q6IAR5 Q86X87 Q9H4J2 RNF37 RNF37_HUMAN UBCE7IP5 uc002whw.1 uc002whw.2 uc002whw.3 uc002whw.4 uc002whw.5 uc002whw.6 This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]. Interacts with UBE2L3 (By similarity). Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94941-1; Sequence=Displayed; Name=2; IsoId=O94941-2; Sequence=VSP_042899; Note=No experimental confirmation available; Contains 1 RING-type zinc finger. Contains 1 U-box domain. Sequence=BAA74883.2; Type=Erroneous initiation; protein polyubiquitination ubiquitin-protein transferase activity protein binding nucleus nucleoplasm focal adhesion protein ubiquitination nuclear body transferase activity ubiquitin protein ligase binding ubiquitin-ubiquitin ligase activity metal ion binding ubiquitin protein ligase activity  uc002whw.1 uc002whw.2 uc002whw.3 uc002whw.4 uc002whw.5 uc002whw.6 
ENST00000217182.6 EEF1A2 ENST00000217182.6 Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. (from RefSeq NM_001958) B5BUF3 E1P5J1 EEF1AL EF1A2_HUMAN ENST00000217182.1 ENST00000217182.2 ENST00000217182.3 ENST00000217182.4 ENST00000217182.5 NM_001958 P54266 Q05639 Q0VGC7 STN uc002yfe.1 uc002yfe.2 uc002yfe.3 uc002yfe.4 uc002yfe.5 This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC110409.1, X70940.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217182.6/ ENSP00000217182.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. Monomer (By similarity). Nucleus (By similarity). Brain, heart, and skeletal muscle. Belongs to the GTP-binding elongation factor family. EF-Tu/EF-1A subfamily. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EEF1A2ID40408ch20q13.html"; nucleotide binding translation elongation factor activity GTPase activity protein binding GTP binding cytoplasm eukaryotic translation elongation factor 1 complex translation translational elongation translation factor activity, RNA binding response to inorganic substance protein kinase binding neuronal cell body positive regulation of apoptotic process synapse response to electrical stimulus positive regulation of lipid kinase activity cytoplasmic side of lysosomal membrane regulation of chaperone-mediated autophagy nucleus  uc002yfe.1 uc002yfe.2 uc002yfe.3 uc002yfe.4 uc002yfe.5 
ENST00000217185.3 PTK6 ENST00000217185.3 Homo sapiens protein tyrosine kinase 6 (PTK6), transcript variant 2, mRNA. (from RefSeq NM_001256358) B2RCR3 B4DW46 BRK ENST00000217185.1 ENST00000217185.2 NM_001256358 PTK6_HUMAN Q13882 Q58F01 uc011aay.1 uc011aay.2 uc011aay.3 uc011aay.4 The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecules: ARHGAP35/p190RhoGAP, PXN/paxillin, BTK/ATK, STAP2/BKS. Associates also with a variety of proteins that are likely upstream of PTK6 in various signaling pathways, or for which PTK6 may play an adapter-like role. These proteins include ADAM15, EGFR, ERBB2, ERBB3 and IRS4. In normal or non-tumorigenic tissues, PTK6 promotes cellular differentiation and apoptosis. In tumors PTK6 contributes to cancer progression by sensitizing cells to mitogenic signals and enhancing proliferation, anchorage- independent survival and migration/invasion. Association with EGFR, ERBB2, ERBB3 may contribute to mammary tumor development and growth through enhancement of EGF-induced signaling via BTK/AKT and PI3 kinase. Contributes to migration and proliferation by contributing to EGF-mediated phosphorylation of ARHGAP35/p190RhoGAP, which promotes association with RASA1/p120RasGAP, inactivating RhoA while activating RAS. EGF stimulation resulted in phosphorylation of PNX/Paxillin by PTK6 and activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. PTK6 activates STAT3 and STAT5B to promote proliferation. Nuclear PTK6 may be important for regulating growth in normal epithelia, while cytoplasmic PTK6 might activate oncogenic signaling pathways. Isoform 2 inhibits PTK6 phosphorylation and PTK6 association with other tyrosine-phosphorylated proteins. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Activated by EGF, NRG1 and IGF1. Inhibited by SOCS3 to phosphorylate STAT3. Stabilized in the inactive form by an association between the SH3 domain and the SH2-TK linker region. Interaction between Trp-184 within SH2-TK linker region and the catalytic domain appears essential for positive regulation of kinase activity. Kinetic parameters: KM=83 uM for ATP; Vmax=37 nmol/min/mg enzyme; Interacts with GAP-A.p65 (By similarity). Interacts (via SH3 and SH2 domains) with KHDRBS1. Interacts (via SH3 and SH2 domains) with phosphorylated IRS4. Interacts with ADAM15. Interacts (via SH3 domain) with SFPQ. Interacts with EGFR and ERBB2. Interacts with STAP2. Interacts with PNX. Interacts with SFPQ. Interacts with PTK/ATK. Interacts with CTNNB1. Cytoplasm. Nucleus. Cell projection, ruffle. Membrane (By similarity). Note=Colocalizes with KHDRBS1, KHDRBS2 or KHDRBS3, within the nucleus. Nuclear localization in epithelial cells of normal prostate but cytoplasmic localization in cancer prostate. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13882-1; Sequence=Displayed; Name=2; Synonyms=ALT-PTK6, deltam5; IsoId=Q13882-2; Sequence=VSP_042066, VSP_042067; Epithelia-specific. Very high level in colon and high levels in small intestine and prostate, and low levels in some fetal tissues. Not expressed in breast or ovarian tissue but expressed in high pourcentage of breast and ovarian cancers. Also overexpressed in some metastatic melanomas, lymphomas, colon cancers, squamous cell carcinomas and prostate cancers. Also found in melanocytes. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Isoform 2 is present in prostate epithelial cell lines derived from normal prostate and prostate adenocarcinomas, as well as in a variety of cell lines. The SH3 domain plays a major role in substrate interactions. The SH2 domain of PTK6 plays a role in protein- protein interactions, but is likely more important for the regulation of catalytic activity. Autophosphorylated. Autophosphorylation of Tyr-342 leads to an increase of kinase activity. Tyr-447 binds to the SH2 domain when phosphorylated and negatively regulates kinase activity. Belongs to the protein kinase superfamily. Tyr protein kinase family. BRK/PTK6/SIK subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. Sequence=BAG62908.1; Type=Erroneous translation; Note=Wrong choice of CDS; nucleotide binding ruffle protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway tyrosine phosphorylation of STAT protein negative regulation of signal transduction positive regulation of neuron projection development membrane kinase activity phosphorylation cell migration nuclear body transferase activity cell differentiation extrinsic component of cytoplasmic side of plasma membrane peptidyl-tyrosine autophosphorylation ERBB2 signaling pathway regulation of cell proliferation positive regulation of tyrosine phosphorylation of STAT protein identical protein binding cell projection positive regulation of epidermal growth factor receptor signaling pathway positive regulation of cell cycle negative regulation of growth protein autophosphorylation intestinal epithelial cell differentiation negative regulation of protein tyrosine kinase activity cellular response to retinoic acid  uc011aay.1 uc011aay.2 uc011aay.3 uc011aay.4 
ENST00000217188.2 SRMS ENST00000217188.2 Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA. (from RefSeq NM_080823) C20orf148 ENST00000217188.1 NM_080823 Q9H3Y6 SRMS_HUMAN uc002yfi.1 uc002yfi.2 uc002yfi.3 uc002yfi.4 May be involved in proliferation or differentiation of keratinocytes in the skin (By similarity). ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytoplasm cytosol protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway negative regulation of signal transduction kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation cell differentiation extrinsic component of cytoplasmic side of plasma membrane peptidyl-tyrosine autophosphorylation regulation of cell proliferation  uc002yfi.1 uc002yfi.2 uc002yfi.3 uc002yfi.4 
ENST00000217195.12 ADISSP ENST00000217195.12 Homo sapiens chromosome 20 open reading frame 27 (C20orf27), transcript variant 1, mRNA. (from RefSeq NM_001039140) A8K4J0 C20orf27 CT027_HUMAN D3DVX8 ENST00000217195.1 ENST00000217195.10 ENST00000217195.11 ENST00000217195.2 ENST00000217195.3 ENST00000217195.4 ENST00000217195.5 ENST00000217195.6 ENST00000217195.7 ENST00000217195.8 ENST00000217195.9 NM_001039140 Q5JX81 Q9GZN8 Q9NWX3 uc002wjh.1 uc002wjh.2 uc002wjh.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GZN8-1; Sequence=Displayed; Name=2; IsoId=Q9GZN8-2; Sequence=VSP_040293; Belongs to the UPF0687 family. molecular_function cellular_component biological_process  uc002wjh.1 uc002wjh.2 uc002wjh.3 
ENST00000217233.9 TRIB3 ENST00000217233.9 Homo sapiens tribbles pseudokinase 3 (TRIB3), transcript variant 1, mRNA. (from RefSeq NM_021158) C20orf97 ENST00000217233.1 ENST00000217233.2 ENST00000217233.3 ENST00000217233.4 ENST00000217233.5 ENST00000217233.6 ENST00000217233.7 ENST00000217233.8 NIPK NM_021158 Q53GU4 Q53ZW7 Q6I9Y9 Q8TAI6 Q96RU7 Q9H5M8 Q9NUD2 SKIP3 TRB3 TRIB3_HUMAN uc002wdm.1 uc002wdm.2 uc002wdm.3 uc002wdm.4 uc002wdm.5 uc002wdm.6 The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014]. Disrupts insulin signaling by binding directly to Akt kinases and blocking their activation. May bind directly to and mask the 'Thr-308' phosphorylation site in AKT1. Binds to ATF4 and inhibits its transcriptional activation activity. Interacts with the NF-kappa-B transactivator p65 RELA and inhibits its phosphorylation and thus its transcriptional activation activity. Interacts with MAPK kinases and regulates activation of MAP kinases. May play a role in programmed neuronal cell death but does not appear to affect non-neuronal cells. Does not display kinase activity. Inhibits the transcriptional activity of DDIT3/CHOP and is involved in DDIT3/CHOP-dependent cell death during ER stress. Interacts with AKT1, AKT2, ATF4, MAP2K1 and MAP2K7. Interacts with DDIT3/CHOP and inhibits its interaction with EP300/P300. P18848:ATF4; NbExp=2; IntAct=EBI-492476, EBI-492498; Nucleus (Probable). Highest expression in liver, pancreas, peripheral blood leukocytes and bone marrow. Also highly expressed in a number of primary lung, colon and breast tumors. Expressed in spleen, thymus, and prostate and is undetectable in other examined tissues, including testis, ovary, small intestine, colon, leukocyte, heart, brain, placenta, lung, skeletal muscle, and kidney. By hypoxia, TNF, and by nutrient starvation. Expression is PI 3-kinase and/or NF-kappa-B-dependent. Induced by ER stress via ATF4-DDIT3/CHOP pathway and can downregulate its own induction by repression of ATF4-DDIT3/CHOP functions. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. Contains 1 protein kinase domain. The role of this protein in Akt activation has been demonstrated by Du et al (PubMed:12791994) for the mouse ortholog but Iynedjian (PubMed:15469416) has not been able to reproduce the result in rat hepatocytes. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity protein kinase inhibitor activity protein binding ATP binding nucleus cytosol plasma membrane protein phosphorylation negative regulation of protein kinase activity apoptotic process regulation of autophagy regulation of glucose transport regulation of lipid metabolic process protein kinase binding mitogen-activated protein kinase kinase binding ubiquitin protein ligase binding positive regulation of protein binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process cellular response to insulin stimulus response to endoplasmic reticulum stress regulation of MAP kinase activity negative regulation of fat cell differentiation negative regulation of fatty acid biosynthetic process negative regulation of transcription, DNA-templated positive regulation of ubiquitin-protein transferase activity negative regulation of protein kinase B signaling ubiquitin-protein transferase regulator activity intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress kinase activity  uc002wdm.1 uc002wdm.2 uc002wdm.3 uc002wdm.4 uc002wdm.5 uc002wdm.6 
ENST00000217244.9 CSNK2A1 ENST00000217244.9 Homo sapiens casein kinase 2 alpha 1 (CSNK2A1), transcript variant 1, mRNA. (from RefSeq NM_177559) B4DYS6 CK2A1 CSK21_HUMAN D3DVV8 ENST00000217244.1 ENST00000217244.2 ENST00000217244.3 ENST00000217244.4 ENST00000217244.5 ENST00000217244.6 ENST00000217244.7 ENST00000217244.8 NM_177559 P19138 P20426 P68400 Q14013 Q5U065 uc002wdw.1 uc002wdw.2 uc002wdw.3 uc002wdw.4 Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]. Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine. Regulates numerous cellular processes, such as cell cycle progression, apoptosis and transcription, as well as viral infection. May act as a regulatory node which integrates and coordinates numerous signals leading to an appropriate cellular response. During mitosis, functions as a component of the p53/TP53-dependent spindle assembly checkpoint (SAC) that maintains cyclin-B-CDK1 activity and G2 arrest in response to spindle damage. Also required for p53/TP53-mediated apoptosis, phosphorylating 'Ser-392' of p53/TP53 following UV irradiation. Can also negatively regulate apoptosis. Phosphorylates the caspases CASP9 and CASP2 and the apoptotic regulator NOL3. Phosphorylation protects CASP9 from cleavage and activation by CASP8, and inhibits the dimerization of CASP2 and activation of CASP8. Regulates transcription by direct phosphorylation of RNA polymerases I, II, III and IV. Also phosphorylates and regulates numerous transcription factors including NF-kappa-B, STAT1, CREB1, IRF1, IRF2, ATF1, SRF, MAX, JUN, FOS, MYC and MYB. Phosphorylates Hsp90 and its co-chaperones FKBP4 and CDC37, which is essential for chaperone function. Regulates Wnt signaling by phosphorylating CTNNB1 and the transcription factor LEF1. Acts as an ectokinase that phosphorylates several extracellular proteins. During viral infection, phosphorylates various proteins involved in the viral life cycles of EBV, HSV, HBV, HCV, HIV, CMV and HPV. ATP + a protein = ADP + a phosphoprotein. Constitutively active protein kinase whose activity is not directly affected by phosphorylation. Seems to be regulated by level of expression and localization. Heterotetramer composed of two catalytic subunits (alpha chain and/or alpha' chain) and two regulatory subunits (beta chains). The tetramer can exist as a combination of 2 alpha/2 beta, 2 alpha'/2 beta or 1 alpha/1 alpha'/2 beta subunits. Also part of a CK2-SPT16-SSRP1 complex composed of SSRP1, SUPT16H, CSNK2A1, CSNK2A2 and CSNK2B, which forms following UV irradiation. Interacts with RNPS1. O00257-3:CBX4; NbExp=2; IntAct=EBI-347804, EBI-4392727; P19784:CSNK2A2; NbExp=2; IntAct=EBI-347804, EBI-347451; P67870:CSNK2B; NbExp=10; IntAct=EBI-347804, EBI-348169; O60282:KIF5C; NbExp=4; IntAct=EBI-347804, EBI-717170; P29590:PML; NbExp=2; IntAct=EBI-347804, EBI-295890; Q96EB6:SIRT1; NbExp=2; IntAct=EBI-347804, EBI-1802965; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P68400-1; Sequence=Displayed; Name=2; IsoId=P68400-2; Sequence=VSP_041925; Phosphorylated at Thr-344, Thr-360, Ser-362 and Ser-370 by CDK1 in prophase and metaphase and dephosphorylated during anaphase. Phosphorylation does not directly affect casein kinase 2 activity, but may contribute to its regulation by forming binding sites for interacting proteins and/or targeting it to different compartments. Can use both ATP and GTP as phosphoryl donors. Phosphorylation by casein kinase 2 has been estimated to represent up to one quarter of the eukaryotic phosphoproteome. Casein kinase 2 has been found to be inccreased at protein level and up- regulated at the level of enzyme activity in the majority of cancers. However, elevated levels of casein kinase 2 are present in certain normal organs such as brain and testes. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CK2 subfamily. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytosol plasma membrane protein kinase CK2 complex protein folding protein phosphorylation phosphatidylcholine biosynthetic process apoptotic process cell cycle signal transduction positive regulation of cell proliferation Wnt signaling pathway macroautophagy kinase activity phosphorylation Sin3 complex NuRD complex transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation positive regulation of Wnt signaling pathway positive regulation of cell growth identical protein binding negative regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of protein catabolic process protein N-terminus binding rhythmic process regulation of cell cycle Hsp90 protein binding chaperone-mediated protein folding regulation of signal transduction by p53 class mediator negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process negative regulation of apoptotic signaling pathway PcG protein complex  uc002wdw.1 uc002wdw.2 uc002wdw.3 uc002wdw.4 
ENST00000217246.8 MACROD2 ENST00000217246.8 Homo sapiens mono-ADP ribosylhydrolase 2 (MACROD2), transcript variant 1, mRNA. (from RefSeq NM_080676) A1Z1Q3 A6NFF7 B0QZ39 B3KWV0 C20orf133 ENST00000217246.1 ENST00000217246.2 ENST00000217246.3 ENST00000217246.4 ENST00000217246.5 ENST00000217246.6 ENST00000217246.7 MACD2_HUMAN NM_080676 Q0P6D5 Q495E0 Q5W199 Q6ZN71 uc002wot.1 uc002wot.2 uc002wot.3 uc002wot.4 The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Kinetic parameters: KM=107 uM for O-acetyl-ADP-ribose; Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=A1Z1Q3-1; Sequence=Displayed; Name=2; IsoId=A1Z1Q3-2; Sequence=VSP_027806; Note=No experimental confirmation available; Name=4; IsoId=A1Z1Q3-4; Sequence=VSP_035478; Note=No experimental confirmation available; Name=5; IsoId=A1Z1Q3-5; Sequence=VSP_035478, VSP_027806; Note=No experimental confirmation available; Name=6; IsoId=A1Z1Q3-6; Sequence=VSP_035721, VSP_035722; Note=No experimental confirmation available; Contains 1 Macro domain. Sequence=BAD18504.1; Type=Frameshift; Positions=151; nucleus nucleolus centrosome cellular response to DNA damage stimulus brain development response to bacterium hydrolase activity hydrolase activity, acting on glycosyl bonds deacetylase activity purine nucleoside metabolic process protein de-ADP-ribosylation  uc002wot.1 uc002wot.2 uc002wot.3 uc002wot.4 
ENST00000217254.11 SLC52A3 ENST00000217254.11 Homo sapiens solute carrier family 52 member 3 (SLC52A3), transcript variant 3, mRNA. (from RefSeq NM_001370086) A8K6P1 C20orf54 ENST00000217254.1 ENST00000217254.10 ENST00000217254.2 ENST00000217254.3 ENST00000217254.4 ENST00000217254.5 ENST00000217254.6 ENST00000217254.7 ENST00000217254.8 ENST00000217254.9 NM_001370086 Q5W1A0 Q5W1A1 Q8NCL7 Q96GD5 Q9NQ40 RFT2 S52A3_HUMAN uc284pqm.1 This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: SRR1660805.3173.1, SRR1803617.219045.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## Riboflavin transporter. Riboflavin transport is Na(+)- independent but moderately pH-sensitive. Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), and to a lesser extent by amiloride. Kinetic parameters: KM=0.98 uM for riboflavin; Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQ40-1; Sequence=Displayed; Name=2; IsoId=Q9NQ40-2; Sequence=VSP_003814, VSP_003815; Note=No experimental confirmation available; Predominantly expressed in testis. Highly expressed in small intestine and prostate. Defects in SLC52A3 are the cause of Brown-Vialetto-Van Laere syndrome type 1 (BVVLS1) [MIM:211530]. A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia, and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. Defects in SLC52A3 are the cause of Fazio-Londe disease (FALOND) [MIM:211500]. A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. Belongs to the riboflavin transporter family. It is uncertain whether Met-1 or Met-5 is the initiator. nucleus cytoplasm plasma membrane integral component of plasma membrane riboflavin metabolic process sensory perception of sound membrane integral component of membrane apical plasma membrane nuclear membrane riboflavin transporter activity riboflavin transport cellular response to heat  uc284pqm.1 
ENST00000217260.9 RSPO4 ENST00000217260.9 Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA. (from RefSeq NM_001029871) A2A2I6 C20orf182 ENST00000217260.1 ENST00000217260.2 ENST00000217260.3 ENST00000217260.4 ENST00000217260.5 ENST00000217260.6 ENST00000217260.7 ENST00000217260.8 NM_001029871 Q2I0M5 Q9UGB2 RSPO4_HUMAN uc002wej.1 uc002wej.2 uc002wej.3 uc002wej.4 uc002wej.5 This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. Activator of the beta-catenin signaling cascade, leading to TCF-dependent gene activation. Acts both in the canonical Wnt/beta-catenin-dependent pathway and in non-canonical Wnt signaling pathway, probably by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (By similarity). Binds heparin (By similarity). Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q2I0M5-1; Sequence=Displayed; Name=2; IsoId=Q2I0M5-2; Sequence=VSP_018325; The FU repeat is required for activation and stabilization of beta-catenin (By similarity). Tyr-112 may be phosphorylated; however as this position is probably extracellular, the vivo relevance is not proven. Defects in RSPO4 are the cause of nail disorder non- syndromic congenital type 4 (NDNC4) [MIM:206800]. A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies. Upon injection into mice, it induces rapid onset of crypt cell proliferation involving beta-catenin stabilization. It also displays efficacy in a model of chemotherapy-induced intestinal mucositis. Belongs to the R-spondin family. Contains 1 FU (furin-like) repeat. Contains 1 TSP type-1 domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RSPO4"; extracellular region heparin binding Wnt signaling pathway positive regulation of Wnt signaling pathway nail development response to stimulus  uc002wej.1 uc002wej.2 uc002wej.3 uc002wej.4 uc002wej.5 
ENST00000217270.4 PROKR2 ENST00000217270.4 Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. (from UniProt Q8NFJ6) A5JUU1 AK289995 ENST00000217270.1 ENST00000217270.2 ENST00000217270.3 GPR73L1 PKR2 PKR2_HUMAN Q2M3C0 Q5TDY1 Q8NFJ6 Q9NTT0 uc010zqw.1 uc010zqw.2 uc010zqw.3 uc010zqw.4 Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase. Homodimer. Cell membrane; Multi-pass membrane protein. Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain. Defects in PROKR2 are the cause of Kallmann syndrome type 3 (KAL3) [MIM:244200]; also known as hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. KAL3 patients have variable degrees of olfactory and reproductive dysfunction, but do not show any of the occasional clinical anomalies reported in Kallmann syndrome such as renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. Belongs to the G-protein coupled receptor 1 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROKR2"; G-protein coupled receptor activity neuropeptide Y receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway circadian rhythm membrane integral component of membrane cellular response to hormone stimulus  uc010zqw.1 uc010zqw.2 uc010zqw.3 uc010zqw.4 
ENST00000217289.9 FERMT1 ENST00000217289.9 Homo sapiens fermitin family member 1 (FERMT1), mRNA. (from RefSeq NM_017671) C20orf42 D3DW10 ENST00000217289.1 ENST00000217289.2 ENST00000217289.3 ENST00000217289.4 ENST00000217289.5 ENST00000217289.6 ENST00000217289.7 ENST00000217289.8 FERM1_HUMAN KIND1 NM_017671 Q8IX34 Q8IYH2 Q9BQL6 Q9NWM2 Q9NXQ3 URP1 uc002wmr.1 uc002wmr.2 uc002wmr.3 uc002wmr.4 This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB105105.1, AF443278.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. Interacts with the cytoplasmic domain of integrins ITGB1 and ITGB3. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Constituent of focal adhesions. Localized at the basal aspect of skin keratinocytes, close to the cell membrane. Colocalizes with filamentous actin. Upon TGFB1 treatment, it localizes to membrane ruffles. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BQL6-1; Sequence=Displayed; Name=2; IsoId=Q9BQL6-2; Sequence=VSP_003810, VSP_003811; Name=3; IsoId=Q9BQL6-3; Sequence=VSP_003809; Name=4; IsoId=Q9BQL6-4; Sequence=VSP_009224, VSP_009225; Note=No experimental confirmation available; Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in some colon and lung tumors. In skin, it is localized within the epidermis and particularly in basal keratocytes. Not detected in epidermal melanocytes and dermal fibroblasts. By TGFB1. The FERM domain is not correctly detected by PROSITE or Pfam techniques because it contains the insertion of a PH domain. The FERM domain contains the subdomains F1, F2 and F3. It is preceded by a F0 domain with a ubiquitin-like fold. The F0 domain is required for integrin activation and for localization at focal adhesions. Defects in FERMT1 are the cause of Kindler syndrome (KINDS) [MIM:173650]. An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. Note=Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020). Belongs to the kindlin family. Contains 1 FERM domain. Contains 1 PH domain. Sequence=BAA91358.1; Type=Erroneous initiation; Sequence=BAC03826.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FERMT1"; positive regulation of cell-matrix adhesion cytoplasm cytosol cytoskeleton plasma membrane focal adhesion cell adhesion integrin-mediated signaling pathway negative regulation of gene expression membrane cell junction positive regulation of transforming growth factor beta receptor signaling pathway ruffle membrane positive regulation of cell adhesion mediated by integrin negative regulation of protein import into nucleus cell projection keratinocyte proliferation actin filament binding keratinocyte migration negative regulation of anagen basement membrane organization negative regulation of canonical Wnt signaling pathway establishment of epithelial cell polarity negative regulation of stem cell proliferation positive regulation of transforming growth factor-beta secretion  uc002wmr.1 uc002wmr.2 uc002wmr.3 uc002wmr.4 
ENST00000217305.3 PDYN ENST00000217305.3 Homo sapiens prodynorphin (PDYN), transcript variant 1, mRNA. (from RefSeq NM_024411) A8K0Q3 ENST00000217305.1 ENST00000217305.2 NM_024411 P01213 PDYN_HUMAN uc002wfv.1 uc002wfv.2 uc002wfv.3 uc002wfv.4 uc002wfv.5 The protein encoded by this gene is a preproprotein that is proteolytically processed to form the secreted opioid peptides beta-neoendorphin, dynorphin, leu-enkephalin, rimorphin, and leumorphin. These peptides are ligands for the kappa-type of opioid receptor. Dynorphin is involved in modulating responses to several psychoactive substances, including cocaine. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity). Dynorphin peptides differentially regulate the kappa opioid receptor. Dynorphin A(1-13) has a typical opiod activity, it is 700 times more potent than Leu-enkephalin (By similarity). Leumorphin has a typical opiod activity and may have anti-apoptotic effect (By similarity). Secreted. The N-terminal domain contains 6 conserved cysteines thought to be involved in disulfide bonding and/or processing. Defects in PDYN are the cause of spinocerebellar ataxia type 23 (SCA23) [MIM:610245]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA23 is an adult-onset autosomal dominant form characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria. Belongs to the opioid neuropeptide precursor family. opioid peptide activity extracellular region plasma membrane G-protein coupled receptor signaling pathway neuropeptide signaling pathway chemical synaptic transmission dendrite opioid receptor binding neuronal cell body axon terminus  uc002wfv.1 uc002wfv.2 uc002wfv.3 uc002wfv.4 uc002wfv.5 
ENST00000217315.9 TM9SF4 ENST00000217315.9 Homo sapiens transmembrane 9 superfamily member 4 (TM9SF4), transcript variant 2, mRNA. (from RefSeq NM_001363731) A0A0C4DFM1 ENST00000217315.1 ENST00000217315.2 ENST00000217315.3 ENST00000217315.4 ENST00000217315.5 ENST00000217315.6 ENST00000217315.7 ENST00000217315.8 NM_001363731 uc002wxk.1 uc002wxk.2  uc002wxk.1 uc002wxk.2 
ENST00000217320.8 TLDC2 ENST00000217320.8 Homo sapiens TBC/LysM-associated domain containing 2 (TLDC2), transcript variant 1, mRNA. (from RefSeq NM_080628) A0PJX2 B3KVU8 C20orf118 CT118_HUMAN ENST00000217320.1 ENST00000217320.2 ENST00000217320.3 ENST00000217320.4 ENST00000217320.5 ENST00000217320.6 ENST00000217320.7 NM_080628 uc002xgg.1 uc002xgg.2 uc002xgg.3 Belongs to the OXR1 family. Contains 1 TLD domain.  uc002xgg.1 uc002xgg.2 uc002xgg.3 
ENST00000217381.3 SNTA1 ENST00000217381.3 Homo sapiens syntrophin alpha 1 (SNTA1), mRNA. (from RefSeq NM_003098) A8K7H9 E1P5N1 ENST00000217381.1 ENST00000217381.2 NM_003098 Q13424 Q16438 SNT1 SNTA1_HUMAN uc002wzd.1 uc002wzd.2 uc002wzd.3 Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291994.1, BC026215.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217381.3/ ENSP00000217381.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays an important role in synapse formation and in the organization of UTRN and acetylcholine receptors at the neuromuscular synapse. Binds to phosphatidylinositol 4,5- bisphosphate (By similarity). Monomer and homodimer. Interacts with the other members of the syntrophin family SNTB1 and SNTB2; SGCG and SGCA of the dystrophin glycoprotein complex; NOS1; GRB2; the sodium channel proteins SCN4A and SCN5A; F-actin and calmodulin (By similarity). Interacts with dystrophin protein DMD and related proteins DTNA and UTRN and with MAPK12, TGFA and GA. O95477:ABCA1; NbExp=2; IntAct=EBI-717191, EBI-784112; Q63538:Mapk12 (xeno); NbExp=5; IntAct=EBI-717191, EBI-783937; Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side (By similarity). Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions (By similarity). High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta. The PH 1 domain mediates the oligomerization in a calcium dependent manner, and the association with the phosphatidylinositol 4,5-bisphosphate (By similarity). The PDZ domain binds to the last three or four amino acids of ion channels and receptor proteins. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane (By similarity). The SU domain binds calmodulin in a calcium-dependent manner (By similarity). Phosphorylated by CaM-kinase II. Phosphorylation may inhibit the interaction with DMD (By similarity). Defects in SNTA1 are the cause of long QT syndrome type 12 (LQT12) [MIM:612955]. A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Belongs to the syntrophin family. Contains 1 PDZ (DHR) domain. Contains 2 PH domains. Contains 1 SU (syntrophin unique) domain. regulation of heart rate actin binding structural molecule activity protein binding calmodulin binding cytoplasm cytoskeleton plasma membrane muscle contraction dystrophin-associated glycoprotein complex syntrophin complex membrane cell junction PDZ domain binding neuromuscular junction macromolecular complex sarcolemma ion channel binding synapse nitric-oxide synthase binding ATPase binding regulation of ventricular cardiac muscle cell membrane repolarization ventricular cardiac muscle cell action potential negative regulation of peptidyl-cysteine S-nitrosylation regulation of sodium ion transmembrane transport lateral plasma membrane sodium channel regulator activity  uc002wzd.1 uc002wzd.2 uc002wzd.3 
ENST00000217386.2 OXT ENST00000217386.2 Homo sapiens oxytocin/neurophysin I prepropeptide (OXT), mRNA. (from RefSeq NM_000915) ENST00000217386.1 NM_000915 X5D7M6 uc002wht.1 uc002wht.2 This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [provided by RefSeq, Dec 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069144.1, M25650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145774, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217386.2/ ENSP00000217386.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##  uc002wht.1 uc002wht.2 
ENST00000217398.3 PXMP4 ENST00000217398.3 peroxisomal membrane protein 4 (from HGNC PXMP4) AK301532 B4DWH1 B4DWH1_HUMAN ENST00000217398.1 ENST00000217398.2 RP4-553F4.4-003 uc010zuh.1 uc010zuh.2 uc010zuh.3  uc010zuh.1 uc010zuh.2 uc010zuh.3 
ENST00000217402.3 CHMP4B ENST00000217402.3 Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA. (from RefSeq NM_176812) C20orf178 CHM4B_HUMAN E1P5N4 ENST00000217402.1 ENST00000217402.2 NM_176812 Q53ZD6 Q9H444 SHAX1 uc002xaa.1 uc002xaa.2 uc002xaa.3 uc002xaa.4 uc002xaa.5 This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.522347.1, SRR3476690.263413.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217402.3/ ENSP00000217402.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with CHMP6 and CHMP4C. Interacts with PDCD6IP; the interaction is direct. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with CHMP7. Interacts with CFTR; the interaction requires misfolded CFTR. Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable). Widely expressed. Expressed at higher level in heart and skeletal muscle. Also expressed in brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes. The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components. Defects in CHMP4B are the cause of cataract posterior polar type 3 (CTPP3) [MIM:605387]. A subcapsular opacity, usually disk-shaped, located at the back of the lens. It can have a marked effect on visual acuity. Its overexpression strongly inhibits HIV-1 release. Belongs to the SNF7 family. mitotic cytokinesis ESCRT III complex protein binding nucleus nuclear envelope cytoplasm endosome cytosol posttranslational protein targeting to membrane autophagy nucleus organization vacuolar transport mitotic metaphase plate congression cytoplasmic side of plasma membrane exit from mitosis regulation of autophagy regulation of centrosome duplication protein transport membrane endosomal transport macroautophagy viral life cycle membrane coat midbody nuclear envelope reassembly late endosome membrane vesicle multivesicular body assembly maintenance of lens transparency viral budding via host ESCRT complex identical protein binding protein homodimerization activity cadherin binding viral budding regulation of viral process protein homooligomerization negative regulation of cell death extracellular exosome membrane fission ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway negative regulation of neuron death regulation of mitotic spindle assembly positive regulation of viral release from host cell negative regulation of autophagosome assembly  uc002xaa.1 uc002xaa.2 uc002xaa.3 uc002xaa.4 uc002xaa.5 
ENST00000217407.3 LBP ENST00000217407.3 Homo sapiens lipopolysaccharide binding protein (LBP), mRNA. (from RefSeq NM_004139) B2R938 ENST00000217407.1 ENST00000217407.2 LBP_HUMAN NM_004139 O43438 P18428 Q92672 Q9H403 Q9UD66 uc002xic.1 uc002xic.2 uc002xic.3 uc002xic.4 The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.89550.1, SRR5189664.106705.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217407.3/ ENSP00000217407.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria. The LBP/LPS complex seems to interact with the CD14 receptor. Q13162:PRDX4; NbExp=4; IntAct=EBI-3927059, EBI-2211957; Secreted. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. lipopolysaccharide binding toll-like receptor signaling pathway leukocyte chemotaxis involved in inflammatory response macrophage activation involved in immune response immune system process receptor binding protein binding extracellular region extracellular space lipid transport acute-phase response cellular defense response opsonization lipid binding cell surface lipopolysaccharide transport membrane cytokine-mediated signaling pathway lipopolysaccharide-mediated signaling pathway detection of molecule of bacterial origin response to lipopolysaccharide negative regulation of tumor necrosis factor production positive regulation of chemokine production positive regulation of interleukin-6 production positive regulation of interleukin-8 production positive regulation of tumor necrosis factor production macromolecule localization toll-like receptor 4 signaling pathway positive regulation of toll-like receptor 4 signaling pathway positive regulation of tumor necrosis factor biosynthetic process defense response to bacterium positive regulation of macrophage activation innate immune response positive regulation of cytolysis defense response to Gram-negative bacterium defense response to Gram-positive bacterium positive regulation of respiratory burst involved in inflammatory response extracellular exosome lipoteichoic acid binding cellular response to lipopolysaccharide cellular response to lipoteichoic acid lipopeptide binding positive regulation of neutrophil chemotaxis  uc002xic.1 uc002xic.2 uc002xic.3 uc002xic.4 
ENST00000217420.2 SLC32A1 ENST00000217420.2 Homo sapiens solute carrier family 32 member 1 (SLC32A1), mRNA. (from RefSeq NM_080552) ENST00000217420.1 NM_080552 Q8N489 Q9H598 VGAT VIAAT VIAAT_HUMAN uc002xjc.1 uc002xjc.2 uc002xjc.3 uc002xjc.4 The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK055051.1, SRR3476690.433362.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2153733 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217420.2/ ENSP00000217420.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the uptake of GABA and glycine into the synaptic vesicles. Cytoplasmic vesicle membrane; Multi-pass membrane protein (By similarity). Retina. Expressed throughout the horizontal cells or more specifically at the terminals. Belongs to the amino acid/polyamine transporter 2 family. Sequence=AAH36458.2; Type=Erroneous initiation; amino acid transmembrane transport plasma membrane ion transport neurotransmitter transport neurotransmitter secretion aging synaptic vesicle amino acid transmembrane transporter activity glycine transmembrane transporter activity gamma-aminobutyric acid:proton symporter activity gamma-aminobutyric acid transport glycine transport membrane integral component of membrane hippocampus development integral component of synaptic vesicle membrane dendrite cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle neuron projection intracellular organelle dendrite terminus neuron projection terminus cone cell pedicle synapse presynaptic active zone cell tip inhibitory synapse clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane neurotransmitter loading into synaptic vesicle GABA-ergic synapse  uc002xjc.1 uc002xjc.2 uc002xjc.3 uc002xjc.4 
ENST00000217423.4 CST4 ENST00000217423.4 Homo sapiens cystatin S (CST4), mRNA. (from RefSeq NM_001899) CYTS_HUMAN ENST00000217423.1 ENST00000217423.2 ENST00000217423.3 NM_001899 P01036 Q9UBI5 Q9UCS9 uc002wto.1 uc002wto.2 uc002wto.3 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X54667.1, BP333642.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively. Secreted. Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in saliva, tears, urine and seminal fluid. Phosphorylated at both its N- and C-terminal regions. Mass=14175.8569; Mass_error=0.0564; Method=Electrospray; Range=21-141; Source=PubMed:20189825; Mass=14255.8567; Mass_error=0.0899; Method=Electrospray; Range=21-141; Note=Monophosphorylated at Ser- 23, also called form S1; Source=PubMed:20189825; Mass=14335.811; Mass_error=0.0775; Method=Electrospray; Range=21-141; Note=Diphosphorylated at Ser-21 and Ser-23, also called form S2; Source=PubMed:20189825; Belongs to the cystatin family. detection of chemical stimulus involved in sensory perception of bitter taste retina homeostasis cysteine-type endopeptidase inhibitor activity extracellular region extracellular space negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity negative regulation of proteolysis extracellular exosome  uc002wto.1 uc002wto.2 uc002wto.3 
ENST00000217425.9 WFDC2 ENST00000217425.9 Secreted. (from UniProt Q14508) A2A2A5 A2A2A6 A6PVD5 AF330262 ENST00000217425.1 ENST00000217425.2 ENST00000217425.3 ENST00000217425.4 ENST00000217425.5 ENST00000217425.6 ENST00000217425.7 ENST00000217425.8 HE4 Q14508 Q6IB27 Q8WXV9 Q8WXW0 Q8WXW1 Q8WXW2 Q96KJ1 WAP5 WFDC2_HUMAN uc061xid.1 Secreted. Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q14508-1; Sequence=Displayed; Name=2; Synonyms=HE4-V3; IsoId=Q14508-2; Sequence=VSP_007666, VSP_007667; Name=3; Synonyms=HE4-V2; IsoId=Q14508-3; Sequence=VSP_007668; Name=4; Synonyms=HE4-V1; IsoId=Q14508-4; Sequence=VSP_007669, VSP_007671; Name=5; Synonyms=HE4-V4; IsoId=Q14508-5; Sequence=VSP_007670, VSP_007672; Expressed in a number of normal tissues, including male reproductive system, regions of the respiratory tract and nasopharynx. Highly expressed in a number of tumors cells lines, such ovarian, colon, breast, lung and renal cells lines. Initially described as being exclusively transcribed in the epididymis. Contains 2 WAP domains. endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity cysteine-type endopeptidase inhibitor activity extracellular region extracellular space proteolysis spermatogenesis negative regulation of peptidase activity negative regulation of endopeptidase activity aspartic-type endopeptidase inhibitor activity peptidase inhibitor activity extracellular exosome  uc061xid.1 
ENST00000217426.7 AHCY ENST00000217426.7 Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 6, mRNA. (from RefSeq NM_001362750) A8K307 E1P5P2 ENST00000217426.1 ENST00000217426.2 ENST00000217426.3 ENST00000217426.4 ENST00000217426.5 ENST00000217426.6 NM_001362750 P23526 Q96A36 SAHH SAHH_HUMAN uc002xai.1 uc002xai.2 uc002xai.3 uc002xai.4 uc002xai.5 S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138525.461807.1, SRR1163658.64733.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Adenosylhomocysteine is a competitive inhibitor of S- adenosyl-L-methionine-dependent methyl transferase reactions; therefore adenosylhomocysteinase may play a key role in the control of methylations via regulation of the intracellular concentration of adenosylhomocysteine. S-adenosyl-L-homocysteine + H(2)O = L- homocysteine + adenosine. Binds 1 NAD per subunit. Amino-acid biosynthesis; L-homocysteine biosynthesis; L- homocysteine from S-adenosyl-L-homocysteine: step 1/1. Homotetramer. Cytoplasm. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Defects in AHCY are the cause of hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]. A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. Belongs to the adenosylhomocysteinase family. sulfur amino acid metabolic process response to hypoxia chronic inflammatory response to antigenic stimulus adenosylhomocysteinase activity protein binding nucleus cytoplasm cytosol one-carbon metabolic process response to nutrient hydrolase activity S-adenosylhomocysteine catabolic process adenyl nucleotide binding methylation S-adenosylmethionine cycle melanosome circadian sleep/wake cycle identical protein binding neuron projection NAD binding extracellular exosome  uc002xai.1 uc002xai.2 uc002xai.3 uc002xai.4 uc002xai.5 
ENST00000217428.7 SPINT3 ENST00000217428.7 Homo sapiens serine peptidase inhibitor, Kunitz type 3 (SPINT3), mRNA. (from RefSeq NM_006652) A6NCQ6 ENST00000217428.1 ENST00000217428.2 ENST00000217428.3 ENST00000217428.4 ENST00000217428.5 ENST00000217428.6 NM_006652 P49223 Q6UDR8 Q96KK2 SPIT3_HUMAN uc010ghg.1 uc010ghg.2 Secreted (Probable). Contains 1 BPTI/Kunitz inhibitor domain. serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity negative regulation of transforming growth factor beta receptor signaling pathway receptor antagonist activity transforming growth factor beta binding negative regulation of receptor activity  uc010ghg.1 uc010ghg.2 
ENST00000217446.8 PIGU ENST00000217446.8 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class U (PIGU), mRNA. (from RefSeq NM_080476) CDC91L1 ENST00000217446.1 ENST00000217446.2 ENST00000217446.3 ENST00000217446.4 ENST00000217446.5 ENST00000217446.6 ENST00000217446.7 NM_080476 PIGU_HUMAN PSEC0205 Q7Z489 Q8N2F2 Q9H490 UNQ3055/PRO9875 uc002xas.1 uc002xas.2 uc002xas.3 uc002xas.4 uc002xas.5 The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY422169.1, BC030512.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Forms a complex with PIGK/GPI8, PIGS, PIGT and GPAA1/GAA1. Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H490-1; Sequence=Displayed; Name=2; IsoId=Q9H490-2; Sequence=VSP_009543; Note=No experimental confirmation available; Belongs to the PIGU family. endoplasmic reticulum endoplasmic reticulum membrane plasma membrane GPI anchor biosynthetic process membrane integral component of membrane attachment of GPI anchor to protein integral component of endoplasmic reticulum membrane protein localization to cell surface GPI-anchor transamidase complex regulation of JAK-STAT cascade GPI-anchor transamidase activity GPI anchor binding  uc002xas.1 uc002xas.2 uc002xas.3 uc002xas.4 uc002xas.5 
ENST00000217455.9 ACOT8 ENST00000217455.9 Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA. (from RefSeq NM_005469) ACOT8_HUMAN ACTEIII ENST00000217455.1 ENST00000217455.2 ENST00000217455.3 ENST00000217455.4 ENST00000217455.5 ENST00000217455.6 ENST00000217455.7 ENST00000217455.8 NM_005469 O14734 O15261 PTE1 PTE2 Q17RX4 uc002xqa.1 uc002xqa.2 uc002xqa.3 uc002xqa.4 The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.330817.1, SRR5189667.88385.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152474, SAMEA2152798 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217455.9/ ENSP00000217455.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. May mediate Nef-induced down-regulation of CD4. Major thioesterase in peroxisomes. Competes with BAAT (Bile acid CoA: amino acid N- acyltransferase) for bile acid-CoA substrate (such as chenodeoxycholoyl-CoA). Shows a preference for medium-length fatty acyl-CoAs (By similarity). May be involved in the metabolic regulation of peroxisome proliferation. Choloyl-CoA + H(2)O = cholate + CoA. Interacts with HIV-1 Nef. P04601:nef (xeno); NbExp=5; IntAct=EBI-1237371, EBI-6164028; Peroxisome. Detected in a T-cell line (at protein level). Ubiquitous. Regulated by peroxisome proliferator (such as Clofibrate), via the peroxisome proliferator-activated receptors (PPARs) (By similarity). Belongs to the C/M/P thioester hydrolase family. acetyl-CoA hydrolase activity succinyl-CoA hydrolase activity protein binding peroxisome peroxisomal matrix cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process bile acid biosynthetic process peroxisome organization fatty acid catabolic process viral process CoA hydrolase activity palmitoyl-CoA hydrolase activity peroxisome fission hydrolase activity fatty acid beta-oxidation using acyl-CoA oxidase choloyl-CoA hydrolase activity alpha-linolenic acid metabolic process dicarboxylic acid catabolic process negative regulation of CD4 biosynthetic process acetoacetyl-CoA hydrolase activity acyl-CoA hydrolase activity hydroxymethylglutaryl-CoA hydrolase activity carboxylic ester hydrolase activity medium-chain acyl-CoA hydrolase activity long-chain acyl-CoA hydrolase activity  uc002xqa.1 uc002xqa.2 uc002xqa.3 uc002xqa.4 
ENST00000217456.3 APMAP ENST00000217456.3 Homo sapiens adipocyte plasma membrane associated protein (APMAP), mRNA. (from RefSeq NM_020531) A8K514 APMAP_HUMAN B4DXG1 C20orf3 ENST00000217456.1 ENST00000217456.2 NM_020531 Q6UVZ8 Q9GZS8 Q9HDC9 Q9NUB2 UNQ1869/PRO4305 uc002wty.1 uc002wty.2 uc002wty.3 uc002wty.4 uc002wty.5 Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HDC9-1; Sequence=Displayed; Name=2; IsoId=Q9HDC9-2; Sequence=VSP_036992, VSP_036993; Liver, glomerular and tubular structures of the kidney, endothelial cells, arterial wall and pancreatic islets of Langerhans (at protein level). Found ubiquitously in adult as well as in embryonic tissues. In adult tissue, the highest expression is found in the liver, placenta and heart. Found on the cell surface of monocytes. In embryonic tissue, the highest expression levels is found in the liver and the kidney. Belongs to the strictosidine synthase family. Sequence=AAQ89435.1; Type=Erroneous initiation; Sequence=BAB11885.1; Type=Erroneous initiation; Sequence=BAB15253.1; Type=Erroneous initiation; Sequence=BAB15578.1; Type=Erroneous initiation; arylesterase activity endoplasmic reticulum biological_process biosynthetic process cell surface membrane integral component of membrane strictosidine synthase activity  uc002wty.1 uc002wty.2 uc002wty.3 uc002wty.4 uc002wty.5 
ENST00000217515.11 TXNL1 ENST00000217515.11 Homo sapiens thioredoxin like 1 (TXNL1), transcript variant 2, non-coding RNA. (from RefSeq NR_024546) ENST00000217515.1 ENST00000217515.10 ENST00000217515.2 ENST00000217515.3 ENST00000217515.4 ENST00000217515.5 ENST00000217515.6 ENST00000217515.7 ENST00000217515.8 ENST00000217515.9 NR_024546 V9HW51 uc002lgg.1 uc002lgg.2 uc002lgg.3 uc002lgg.4 uc002lgg.5  uc002lgg.1 uc002lgg.2 uc002lgg.3 uc002lgg.4 uc002lgg.5 
ENST00000217652.8 MYL12A ENST00000217652.8 Homo sapiens myosin light chain 12A (MYL12A), transcript variant 1, mRNA. (from RefSeq NM_006471) ENST00000217652.1 ENST00000217652.2 ENST00000217652.3 ENST00000217652.4 ENST00000217652.5 ENST00000217652.6 ENST00000217652.7 ML12A_HUMAN MLCB MRLC3 NM_006471 P19105 RLC uc002klr.1 uc002klr.2 uc002klr.3 uc002klr.4 This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]. Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity). Myosin is a hexamer of 2 heavy chains and 4 light chains. Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge (By similarity). This chain binds calcium. Contains 3 EF-hand domains. calcium ion binding protein binding cytosol muscle contraction myosin complex metal ion binding extracellular exosome platelet aggregation  uc002klr.1 uc002klr.2 uc002klr.3 uc002klr.4 
ENST00000217740.4 RNF125 ENST00000217740.4 Homo sapiens ring finger protein 125 (RNF125), mRNA. (from RefSeq NM_017831) ENST00000217740.1 ENST00000217740.2 ENST00000217740.3 NM_017831 Q96EQ8 Q9NX39 RN125_HUMAN uc002kxf.1 uc002kxf.2 uc002kxf.3 This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.373170.1, SRR1660809.78201.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217740.4/ ENSP00000217740.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## E3 ubiquitin-protein ligase that acts as a positive regulator of T-cell activation. E3 ligase proteins mediate ubiquitination and subsequent proteasomal degradation of target proteins. Protein modification; protein ubiquitination. Predominantly expressed in lymphoid tissues, including bone marrow, spleen and thymus. Also weakly expressed in other tissues. Predominant in the CD4+ and CD8+ T-cells, suggesting that it is preferentially confined to T-cells. Contains 1 RING-type zinc finger. Golgi membrane protein polyubiquitination p53 binding adaptive immune response immune system process protein binding Golgi apparatus ubiquitin-dependent protein catabolic process zinc ion binding membrane protein ubiquitination transferase activity ubiquitin conjugating enzyme binding negative regulation of type I interferon production VCP-NPL4-UFD1 AAA ATPase complex negative regulation of RIG-I signaling pathway intracellular membrane-bounded organelle metal ion binding ubiquitin protein ligase activity  uc002kxf.1 uc002kxf.2 uc002kxf.3 
ENST00000217800.9 POLI ENST00000217800.9 Homo sapiens DNA polymerase iota (POLI), transcript variant 4, mRNA. (from RefSeq NM_001351612) ENST00000217800.1 ENST00000217800.2 ENST00000217800.3 ENST00000217800.4 ENST00000217800.5 ENST00000217800.6 ENST00000217800.7 ENST00000217800.8 NM_001351612 X6R2I3 uc060phd.1 The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017].  uc060phd.1 
ENST00000217885.5 NOX1 ENST00000217885.5 Homo sapiens NADPH oxidase 1 (NOX1), transcript variant 2, mRNA. (from RefSeq NM_013955) A8K836 ENST00000217885.1 ENST00000217885.2 ENST00000217885.3 ENST00000217885.4 MOX1 NM_013955 NOH1 NOX1_HUMAN O95691 Q2PP02 Q9Y5S8 uc004egl.1 uc004egl.2 uc004egl.3 uc004egl.4 uc004egl.5 This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]. NOH-1S is a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes and other tissues. It participates in the regulation of cellular pH and is blocked by zinc. NOH-1L is a pyridine nucleotide-dependent oxidoreductase that generates superoxide and might conduct H(+) ions as part of its electron transport mechanism, whereas NOH-1S does not contain an electron transport chain. NADP (Potential). FAD (Potential). The oxidase activity is potentiated by NOXA1 and NOXO1. NOX1, NOXA1, NOXO1, RAC1 and CYBA forms a functional multimeric complex supporting ROS production. Interacts with NOXA1 and NOXO1. Cell projection, invadopodium membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=NOH-1L; IsoId=Q9Y5S8-1; Sequence=Displayed; Name=NOH-1S; IsoId=Q9Y5S8-2; Sequence=VSP_001577, VSP_001578; Name=NOH-1LV; IsoId=Q9Y5S8-3; Sequence=VSP_001579; NOH-1L is detected in colon, uterus, prostate, and colon carcinoma, but not in peripheral blood leukocytes. NOH- 1S is detected only in colon and colon carcinoma cells. Contains 1 FAD-binding FR-type domain. Contains 1 ferric oxidoreductase domain. angiogenesis regulation of systemic arterial blood pressure by renin-angiotensin voltage-gated ion channel activity protein binding cytoplasm endosome early endosome plasma membrane NADP metabolic process ion transport defense response inflammatory response signal transduction regulation of blood pressure positive regulation of cell proliferation positive regulation of vascular endothelial growth factor production membrane integral component of membrane superoxide-generating NADPH oxidase activity cell migration oxidoreductase activity cell junction extracellular matrix organization ion transmembrane transport regulation of ion transmembrane transport superoxide anion generation hydrogen peroxide metabolic process cell projection NADPH oxidase complex positive regulation of MAPK cascade positive regulation of integrin biosynthetic process respiratory burst positive regulation of JNK cascade metal ion binding Rac GTPase binding positive regulation of smooth muscle cell proliferation NADP binding intracellular pH elevation oxidation-reduction process invadopodium membrane cellular response to hyperoxia oxygen metabolic process positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway cellular stress response to acidic pH  uc004egl.1 uc004egl.2 uc004egl.3 uc004egl.4 uc004egl.5 
ENST00000217890.10 ARSD ENST00000217890.10 arylsulfatase D (from HGNC ARSD) AF160499 ENST00000217890.1 ENST00000217890.2 ENST00000217890.3 ENST00000217890.4 ENST00000217890.5 ENST00000217890.6 ENST00000217890.7 ENST00000217890.8 ENST00000217890.9 uc064xvm.1  uc064xvm.1 
ENST00000217893.10 TAF9 ENST00000217893.10 Homo sapiens TATA-box binding protein associated factor 9 (TAF9), transcript variant 1, mRNA. (from RefSeq NM_003187) D3DWA3 ENST00000217893.1 ENST00000217893.2 ENST00000217893.3 ENST00000217893.4 ENST00000217893.5 ENST00000217893.6 ENST00000217893.7 ENST00000217893.8 ENST00000217893.9 NM_003187 Q16594 Q5U0D1 Q9BTS1 TAF2G TAF9_HUMAN TAFII31 uc003jwe.1 uc003jwe.2 uc003jwe.3 Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription. Component of TFIID, the TATA-binding protein-free TAF complex (TFTC), the PCAF complex and the STAGA transcription coactivator-HAT complex. The PCAF complex consists at least of TADA2L/ADA2, SUPT3H/SPT3, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. The STAGA transcription coactivator-HAT complex consists at least of SUPT3H, GCN5L2, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. Binds N-terminal domain of p53/TP53 which is essential for transcription. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Binds TFIIB and the Herpes simplex virus activator VP16. Forms a heterodimer with TAF6/TAFII80 in a complex with the TAF4B/TAFII105-TAF12/TAFII20 heterodimer. Also interacts with TAF5. Binds directly DNA. Increased DNA binding when complexed with TAF6/TAFII80. Q92831:KAT2B; NbExp=3; IntAct=EBI-712521, EBI-477430; Q9Y6J9:TAF6L; NbExp=3; IntAct=EBI-712521, EBI-743984; Nucleus. Event=Alternative splicing; Named isoforms=3; Comment=Isoforms 1/3 and isoform 2 are produced by the same gene but are translated from different initiation codons and use different reading frames so they display no identity in their protein sequences. This arrangement is conserved in mammals but these proteins are produced by separate genes in non-mammalian species; Name=2; Synonyms=TAF9; IsoId=Q16594-1; Sequence=Displayed; Name=1; Synonyms=AK6; IsoId=Q9Y3D8-1; Sequence=External; Name=3; IsoId=Q9Y3D8-2; Sequence=External; 6 to 8-fold by apoptotic signals. Belongs to the TAF9 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/taf9/"; SAGA complex PCAF complex box C/D snoRNP assembly p53 binding DNA binding transcription coactivator activity protein binding nucleus nucleoplasm transcription factor TFIID complex DNA-templated transcription, initiation transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter cellular response to DNA damage stimulus transcription factor binding positive regulation of cell growth STAGA complex negative regulation of proteasomal ubiquitin-dependent protein catabolic process transcription factor TFTC complex activating transcription factor binding snRNA transcription from RNA polymerase II promoter negative regulation of apoptotic process histone H3 acetylation transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein stabilization ATPase binding positive regulation of response to cytokine stimulus response to interleukin-1 C2H2 zinc finger domain binding pre-snoRNP complex MLL1 complex regulation of signal transduction by p53 class mediator negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator histone acetyltransferase activity  uc003jwe.1 uc003jwe.2 uc003jwe.3 
ENST00000217901.10 IDH3G ENST00000217901.10 Homo sapiens isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma (IDH3G), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004135) ENST00000217901.1 ENST00000217901.2 ENST00000217901.3 ENST00000217901.4 ENST00000217901.5 ENST00000217901.6 ENST00000217901.7 ENST00000217901.8 ENST00000217901.9 IDH3G_HUMAN NM_004135 P51553 Q9BUU5 uc004fip.1 uc004fip.2 uc004fip.3 uc004fip.4 uc004fip.5 Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the gamma subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate gene for periventricular heterotopia. Several alternatively spliced transcript variants of this gene have been described, but only some of their full length natures have been determined. [provided by RefSeq, Jul 2008]. Isocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADH. Binds 1 magnesium or manganese ion per subunit (By similarity). Activated by increasing ADP/ATP ratios and by Ca(2+) (By similarity). Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 (By similarity). Mitochondrion. Belongs to the isocitrate and isopropylmalate dehydrogenases family. nucleotide binding magnesium ion binding isocitrate dehydrogenase (NAD+) activity ATP binding nucleoplasm nucleolus mitochondrion mitochondrial matrix carbohydrate metabolic process tricarboxylic acid cycle isocitrate metabolic process oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor metal ion binding NAD binding oxidation-reduction process  uc004fip.1 uc004fip.2 uc004fip.3 uc004fip.4 uc004fip.5 
ENST00000217909.8 SLC25A43 ENST00000217909.8 Homo sapiens solute carrier family 25 member 43 (SLC25A43), mRNA. (from RefSeq NM_145305) ENST00000217909.1 ENST00000217909.2 ENST00000217909.3 ENST00000217909.4 ENST00000217909.5 ENST00000217909.6 ENST00000217909.7 NM_145305 O75854 Q8N9L5 Q8WUT9 S2543_HUMAN uc004erd.1 uc004erd.2 uc004erd.3 uc004erd.4 uc004erd.5 This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.385473.1, BC019584.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000217909.8/ ENSP00000217909.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mitochondrion inner membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUT9-1; Sequence=Displayed; Name=2; IsoId=Q8WUT9-2; Sequence=VSP_026245; Note=No experimental confirmation available; Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. Sequence=AAC62432.1; Type=Erroneous gene model prediction; mitochondrion mitochondrial inner membrane membrane integral component of membrane transmembrane transporter activity transmembrane transport  uc004erd.1 uc004erd.2 uc004erd.3 uc004erd.4 uc004erd.5 
ENST00000217926.7 H2BW1 ENST00000217926.7 Homo sapiens H2B.W histone 1 (H2BW1), mRNA. (from RefSeq NM_001002916) B1AK72 ENST00000217926.1 ENST00000217926.2 ENST00000217926.3 ENST00000217926.4 ENST00000217926.5 ENST00000217926.6 H2BFWT H2BWT_HUMAN NM_001002916 Q147W3 Q7Z2G1 uc004elr.1 uc004elr.2 uc004elr.3 uc004elr.4 uc004elr.5 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Oct 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC038109.2, BI459475.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript replication-independent histone :: PMID: 25731851 ##RefSeq-Attributes-END## Atypical histone H2B. Nucleosomes containing it are structurally and dynamically indistinguishable from those containing conventional H2B. However, unlike conventional H2B, does not recruit chromosome condensation factors and does not participate in the assembly of mitotic chromosomes. May be important for telomere function. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Nucleus membrane. Chromosome. Testis-specific. Present in sperm cells (at protein level). In contrast to other H2B histones, it does not contain the conserved residue in C-terminus that is the target of monoubiquitination. Ortholog in primates, but not in rodents. Belongs to the histone H2B family. nucleosome DNA binding nucleus chromosome nucleosome assembly membrane nuclear membrane protein heterodimerization activity  uc004elr.1 uc004elr.2 uc004elr.3 uc004elr.4 uc004elr.5 
ENST00000217939.7 MXRA5 ENST00000217939.7 Homo sapiens matrix remodeling associated 5 (MXRA5), mRNA. (from RefSeq NM_015419) ENST00000217939.1 ENST00000217939.2 ENST00000217939.3 ENST00000217939.4 ENST00000217939.5 ENST00000217939.6 MXRA5_HUMAN NM_015419 Q6P1M7 Q9NR99 Q9Y3Y8 uc004crg.1 uc004crg.2 uc004crg.3 uc004crg.4 uc004crg.5 uc004crg.6 uc004crg.7 This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments. An in-frame AUG is located 25 codons upstream of the annotated translation start site but is not being annotated as a start site since it is poorly conserved, is in a weak Kozak sequence context, and is predicted to disrupt an N-terminal signal peptide sequence. ##Evidence-Data-START## CDS exon combination :: AF245505.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: downstream AUG is associated with N-terminal localization signal MANE Ensembl match :: ENST00000217939.7/ ENSP00000217939.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted (Potential). Over-expressed in centenarians. Expression is reduced from young to old but increased from old to centenarians. Contains 12 Ig-like C2-type (immunoglobulin-like) domains. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. Sequence=AAH11846.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH64986.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH80586.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; extracellular matrix structural constituent extracellular region extracellular exosome response to transforming growth factor beta  uc004crg.1 uc004crg.2 uc004crg.3 uc004crg.4 uc004crg.5 uc004crg.6 uc004crg.7 
ENST00000217957.10 VSIG1 ENST00000217957.10 Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 2, mRNA. (from RefSeq NM_182607) ENST00000217957.1 ENST00000217957.2 ENST00000217957.3 ENST00000217957.4 ENST00000217957.5 ENST00000217957.6 ENST00000217957.7 ENST00000217957.8 ENST00000217957.9 GPA34 NM_182607 Q6MZS4 Q86XK7 VSIG1_HUMAN uc004eno.1 uc004eno.2 uc004eno.3 uc004eno.4 uc004eno.5 This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]. Membrane; Single-pass type I membrane protein (Potential). Detected only in stomach mucosa and testis, and to a much lesser level in pancreas (at protein level). Detected in gastric cancers (31%), esophageal carcinomas (50%) and ovarian cancers (23%). Highly N-glycosylated. Appears not to contain significant amounts of O-linked carbohydrates or sialic acid in its sugar moieties. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=CAE45954.1; Type=Erroneous initiation; epithelial cell morphogenesis plasma membrane membrane integral component of membrane basolateral plasma membrane maintenance of gastrointestinal epithelium  uc004eno.1 uc004eno.2 uc004eno.3 uc004eno.4 uc004eno.5 
ENST00000217958.8 PSMD10 ENST00000217958.8 Homo sapiens proteasome 26S subunit, non-ATPase 10 (PSMD10), transcript variant 1, mRNA. (from RefSeq NM_002814) ENST00000217958.1 ENST00000217958.2 ENST00000217958.3 ENST00000217958.4 ENST00000217958.5 ENST00000217958.6 ENST00000217958.7 NM_002814 O75832 PSD10_HUMAN Q8IZK9 uc004enp.1 uc004enp.2 uc004enp.3 uc004enp.4 This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]. Acts as a chaperone during the assembly of the 26S proteasome, specifically of the PA700/19S regulatory complex (RC). In the initial step of the base subcomplex assembly is part of an intermediate PSMD10:PSMC4:PSMC5:PAAF1 module which probably assembles with a PSMD5:PSMC2:PSMC1:PSMD2 module. Acts as an proto-oncoprotein by being involved in negative regulation of tumor suppressors RB1 and p53/TP53. Overexpression is leading to phosphorylation of RB1 and proteasomal degradation of RB1. Regulates CDK4-mediated phosphorylation of RB1 by competing with CDKN2A for binding with CDK4. Facilitates binding of MDM2 to p53/TP53 and the mono- and polyubiquitination of p53/TP53 by MDM2 suggesting a function in targeting the TP53:MDM2 complex to the 26S proteasome. Involved in p53-independent apoptosis. Involved in regulation of NF-kappa-B by retaining it in the cytoplasm. Binds to the NF-kappa-B component RELA and accelerates its XPO1/CRM1-mediated nuclear export. Part of transient complex containing PSMD10, PSMC4, PSMC5 and PAAF1 formed during the assembly of the 26S proteasome. Stays associated throughout the assembly of the PA700/19S RC and is released upon association with the 20S core. Interacts with PSMC4. Interacts with RB1. Interacts with CDK4. Interacts with MDM2. Interacts with RELA. Associates with a CDK4:CCND2 serine/threonine kinase complex. P43358:MAGEA4; NbExp=5; IntAct=EBI-752185, EBI-743122; P43686:PSMC4; NbExp=8; IntAct=EBI-752185, EBI-743997; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75832-1; Sequence=Displayed; Name=2; IsoId=O75832-2; Sequence=VSP_043043; Overexpressed in hepatocellular carcinomas. Contains 7 ANK repeats. Was initially identified as a genuine component of the 26S proteasome. negative regulation of transcription from RNA polymerase II promoter MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription from RNA polymerase II promoter regulation of cellular amino acid metabolic process apoptotic process cytoplasmic sequestering of NF-kappaB transcription factor binding negative regulation of G2/M transition of mitotic cell cycle protein deubiquitination positive regulation of cell growth anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process positive regulation of protein ubiquitination negative regulation of NF-kappaB transcription factor activity positive regulation of proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway negative regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of MAPK cascade regulation of mRNA stability negative regulation of DNA damage response, signal transduction by p53 class mediator post-translational protein modification intermediate filament cytoskeleton positive regulation of cyclin-dependent protein serine/threonine kinase activity T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia RNA polymerase II sequence-specific DNA binding transcription factor binding interleukin-1-mediated signaling pathway proteasome regulatory particle assembly negative regulation of canonical Wnt signaling pathway negative regulation of release of cytochrome c from mitochondria positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation proteasome regulatory particle, base subcomplex  uc004enp.1 uc004enp.2 uc004enp.3 uc004enp.4 
ENST00000217961.5 STS ENST00000217961.5 Homo sapiens steroid sulfatase (STS), transcript variant 6, mRNA. (from RefSeq NM_001320754) A0A590UJL0 ENST00000217961.1 ENST00000217961.2 ENST00000217961.3 ENST00000217961.4 NM_001320754 uc004cry.1 uc004cry.2 uc004cry.3 uc004cry.4 uc004cry.5 uc004cry.6 This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016].  uc004cry.1 uc004cry.2 uc004cry.3 uc004cry.4 uc004cry.5 uc004cry.6 
ENST00000217971.8 PGRMC1 ENST00000217971.8 Homo sapiens progesterone receptor membrane component 1 (PGRMC1), transcript variant 1, mRNA. (from RefSeq NM_006667) ENST00000217971.1 ENST00000217971.2 ENST00000217971.3 ENST00000217971.4 ENST00000217971.5 ENST00000217971.6 ENST00000217971.7 NM_006667 Q6IB11 Q6IB11_HUMAN hCG_23188 uc004erb.1 uc004erb.2 uc004erb.3 uc004erb.4 uc004erb.5 uc004erb.6 This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [provided by RefSeq, Mar 2010]. protein binding membrane integral component of membrane  uc004erb.1 uc004erb.2 uc004erb.3 uc004erb.4 uc004erb.5 uc004erb.6 
ENST00000217999.3 RHOXF1 ENST00000217999.3 Homo sapiens Rhox homeobox family member 1 (RHOXF1), mRNA. (from RefSeq NM_139282) ENST00000217999.1 ENST00000217999.2 NM_139282 O95030 OTEX PEPP1 Q3SYE0 Q8NHV9 RHXF1_HUMAN uc004esk.1 uc004esk.2 uc004esk.3 This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012]. ##Evidence-Data-START## Transcript exon combination :: BC069529.1, AY099086.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217999.3/ ENSP00000217999.1 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## May be a transcription factor involved in reproductive processes. Does not interact with itself. Nucleus. Ovary, testis and epididymis. Also detected in the prostate and the mammary gland. Expressed in many tumor cell lines derived from acute lymphocytic leukemia, prostate, endometrial adenocarcinoma, melanoma, bladder carcinoma, colon carcinoma, erythroleukemia and breast carcinoma. Not expressed in placenta. By androgen. Mutagenesis of amino acids 147 to 164 and 155 to 164 lead to a major cytoplasmic localization, with only minor localization in the nucleus. Belongs to the paired-like homeobox family. PEPP subfamily. Contains 1 homeobox DNA-binding domain. Sequence=AAC78617.1; Type=Erroneous gene model prediction; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development gamete generation positive regulation of gene expression sexual reproduction intracellular steroid hormone receptor signaling pathway sequence-specific DNA binding  uc004esk.1 uc004esk.2 uc004esk.3 
ENST00000218004.5 NXT2 ENST00000218004.5 Homo sapiens nuclear transport factor 2 like export factor 2 (NXT2), transcript variant 1, mRNA. (from RefSeq NM_018698) BM-025 D3DUY1 DC9 ENST00000218004.1 ENST00000218004.2 ENST00000218004.3 ENST00000218004.4 NM_018698 NXT2_HUMAN Q0VAN8 Q5JYV5 Q5JYV6 Q5JYV7 Q9H8U0 Q9NPJ8 Q9NQ64 Q9NRL7 Q9Y3M4 Q9Y3M5 uc004eoe.1 uc004eoe.2 uc004eoe.3 The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]. Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export. Associates with NXF1, NXF2, NXF3 and NXF5. Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A, p15-2a; IsoId=Q9NPJ8-1; Sequence=Displayed; Name=2; Synonyms=B, p15-2b; IsoId=Q9NPJ8-2; Sequence=VSP_003604; Note=Incomplete sequence; Name=3; IsoId=Q9NPJ8-3; Sequence=VSP_037540; Name=4; IsoId=Q9NPJ8-4; Sequence=VSP_037539; Contains 1 NTF2 domain. Sequence=BAB14511.1; Type=Erroneous initiation; protein binding nucleus nucleoplasm cytoplasm cytosol protein import into nucleus nucleocytoplasmic transport protein transport nuclear pore central transport channel perinuclear region of cytoplasm mRNA transport  uc004eoe.1 uc004eoe.2 uc004eoe.3 
ENST00000218006.3 GUCY2F ENST00000218006.3 Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA. (from RefSeq NM_001522) ENST00000218006.1 ENST00000218006.2 GUC2F GUC2F_HUMAN NM_001522 P51841 Q9UJF1 RETGC2 uc065aqx.1 uc065aqx.2 The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no transcript sequence was available to make the entire refseq consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: L37378.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218006.3/ ENSP00000218006.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. GTP = 3',5'-cyclic GMP + diphosphate. Activated by GCAP-1; inhibited by calcium. Membrane; Single-pass type I membrane protein. Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells. The protein kinase domain is predicted to be catalytically inactive. There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may be involved in intra- or interchain disulfide bonds. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. Contains 1 guanylate cyclase domain. Contains 1 protein kinase domain. Name=Mutations of the GUCY2F gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gcmut.htm"; nucleotide binding peptide receptor activity guanylate cyclase activity protein kinase activity ATP binding GTP binding nuclear outer membrane plasma membrane integral component of plasma membrane cGMP biosynthetic process protein phosphorylation signal transduction receptor guanylyl cyclase signaling pathway visual perception cyclic nucleotide biosynthetic process membrane integral component of membrane lyase activity phosphorus-oxygen lyase activity natriuretic peptide receptor activity peptide hormone binding cGMP-mediated signaling regulation of rhodopsin mediated signaling pathway intracellular signal transduction signaling receptor activity protein homodimerization activity protein heterodimerization activity response to stimulus detection of light stimulus involved in visual perception photoreceptor disc membrane  uc065aqx.1 uc065aqx.2 
ENST00000218008.8 ATP1B4 ENST00000218008.8 Homo sapiens ATPase Na+/K+ transporting family member beta 4 (ATP1B4), transcript variant 1, mRNA. (from RefSeq NM_001142447) AT1B4_HUMAN ENST00000218008.1 ENST00000218008.2 ENST00000218008.3 ENST00000218008.4 ENST00000218008.5 ENST00000218008.6 ENST00000218008.7 NM_001142447 Q17RR0 Q9UN41 Q9UN42 uc004esr.1 uc004esr.2 uc004esr.3 uc004esr.4 uc004esr.5 This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit. Associates with a SMAD7-transcriptional complex. Interacts with SNW1 and TOR1AIP1 (By similarity). According to PubMed:17592128, does not associate with known Na,K-ATPase alpha- subunits. Nucleus inner membrane; Single-pass type II membrane protein (By similarity). Note=Detected in nuclear envelops. Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q9UN42-1; Sequence=Displayed; Name=B; IsoId=Q9UN42-2; Sequence=VSP_000351; Highly expressed in skeletal muscle and at a lower level in heart. Belongs to the X(+)/potassium ATPases subunit beta family. protein binding nucleus nuclear envelope nuclear inner membrane integral component of plasma membrane sodium:potassium-exchanging ATPase complex regulation of transcription, DNA-templated monovalent inorganic cation transmembrane transporter activity monovalent inorganic cation transport membrane integral component of membrane positive regulation of transcription from RNA polymerase II promoter  uc004esr.1 uc004esr.2 uc004esr.3 uc004esr.4 uc004esr.5 
ENST00000218032.7 TLR8 ENST00000218032.7 Homo sapiens toll like receptor 8 (TLR8), transcript variant 2, mRNA. (from RefSeq NM_138636) B3Y654 ENST00000218032.1 ENST00000218032.2 ENST00000218032.3 ENST00000218032.4 ENST00000218032.5 ENST00000218032.6 NM_138636 Q495P4 Q6UXL6 Q9NR97 Q9NYG9 TLR8_HUMAN UNQ249/PRO286 uc004cve.1 uc004cve.2 uc004cve.3 uc004cve.4 The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is predominantly expressed in lung and peripheral blood leukocytes, and lies in close proximity to another family member, TLR7, on chromosome X. [provided by RefSeq, Jul 2008]. Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Interacts with MYD88 via their respective TIR domains. Interacts with UNC93B1 (By similarity). Interacts with BTK. Membrane; Single-pass type I membrane protein (By similarity). Detected in brain, heart, lung, liver, placenta, in monocytes, and at lower levels in CD11c+ immature dendritic cells. Belongs to the Toll-like receptor family. Contains 23 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 TIR domain. Golgi membrane microglial cell activation regulation of protein phosphorylation toll-like receptor signaling pathway immune system process MyD88-dependent toll-like receptor signaling pathway DNA binding RNA binding double-stranded RNA binding single-stranded RNA binding transmembrane signaling receptor activity endoplasmic reticulum membrane plasma membrane inflammatory response immune response signal transduction I-kappaB kinase/NF-kappaB signaling drug binding signaling pattern recognition receptor activity response to virus external side of plasma membrane endosome membrane membrane integral component of membrane immunoglobulin mediated immune response positive regulation of interleukin-6 production toll-like receptor 8 signaling pathway toll-like receptor 9 signaling pathway endolysosome membrane signaling receptor activity identical protein binding positive regulation of interferon-gamma biosynthetic process innate immune response positive regulation of innate immune response positive regulation of interferon-alpha biosynthetic process positive regulation of interferon-beta biosynthetic process positive regulation of interleukin-8 biosynthetic process regulation of cytokine secretion positive regulation of interleukin-1 beta secretion defense response to virus cellular response to mechanical stimulus positive regulation of interleukin-6 secretion negative regulation of interleukin-12 secretion  uc004cve.1 uc004cve.2 uc004cve.3 uc004cve.4 
ENST00000218056.9 WDR13 ENST00000218056.9 Nucleus. (from UniProt Q9H1Z4) AF329819 ENST00000218056.1 ENST00000218056.2 ENST00000218056.3 ENST00000218056.4 ENST00000218056.5 ENST00000218056.6 ENST00000218056.7 ENST00000218056.8 Q06DX1 Q9BUL7 Q9H1Z4 Q9NWW4 WDR13_HUMAN uc004dkj.1 uc004dkj.2 uc004dkj.3 Nucleus. Widely expressed. Contains 5 WD repeats. Sequence=BAA91261.1; Type=Erroneous initiation; nucleus nucleoplasm microtubule organizing center plasma membrane negative regulation of type B pancreatic cell proliferation promoter-specific chromatin binding  uc004dkj.1 uc004dkj.2 uc004dkj.3 
ENST00000218068.7 PAGE4 ENST00000218068.7 Homo sapiens PAGE family member 4 (PAGE4), transcript variant 1, mRNA. (from RefSeq NM_007003) B2R529 D3DX68 ENST00000218068.1 ENST00000218068.2 ENST00000218068.3 ENST00000218068.4 ENST00000218068.5 ENST00000218068.6 GAGC1_HUMAN GAGEC1 JM27 NM_007003 O60829 Q6IBI1 uc004don.1 uc004don.2 uc004don.3 uc004don.4 This gene is a member of the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in prostate and prostate cancer. It is also expressed in other male and female reproductive tissues including testis, fallopian tube, uterus, and placenta, as well as in testicular cancer and uterine cancer. The protein encoded by this gene shares sequence similarity with other GAGE/PAGE proteins, and also belongs to a family of CT (cancer-testis) antigens. The protein may play a role in benign and malignant prostate diseases. A related pseudogene is located on chromosome 7. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Preferentially expressed in normal male and female reproductive tissues, prostate, testis, fallopian tube, uterus, and placenta, as well as in prostate cancer, testicular cancer, and uterine cancer. Belongs to the GAGE family. molecular_function DNA binding transcription coactivator activity protein binding cellular_component nucleus cytoplasm mitochondrion response to oxidative stress biological_process regulation of stress-activated MAPK cascade response to starvation negative regulation of apoptotic process negative regulation of oxidative stress-induced cell death negative regulation of reactive oxygen species biosynthetic process positive regulation of nucleic acid-templated transcription  uc004don.1 uc004don.2 uc004don.3 uc004don.4 
ENST00000218075.9 GLRA2 ENST00000218075.9 Homo sapiens glycine receptor alpha 2 (GLRA2), transcript variant 1, mRNA. (from RefSeq NM_002063) A8K0J6 B2R6I8 ENST00000218075.1 ENST00000218075.2 ENST00000218075.3 ENST00000218075.4 ENST00000218075.5 ENST00000218075.6 ENST00000218075.7 ENST00000218075.8 GLRA2_HUMAN NM_002063 P23416 Q53YX7 Q6ICQ0 Q99862 uc010neq.1 uc010neq.2 uc010neq.3 uc010neq.4 uc010neq.5 The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]. The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus produces hyperpolarization (inhibition of neuronal firing). Pentamer composed of alpha and beta subunits. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Alpha-2*; IsoId=P23416-1; Sequence=Displayed; Name=Alpha-2B; IsoId=P23416-2; Sequence=VSP_000082; The alpha subunit binds strychnine. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA2 sub- subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction neuropeptide signaling pathway chemical synaptic transmission membrane integral component of membrane glycine binding extracellular-glycine-gated chloride channel activity transmitter-gated ion channel activity glycine-gated chloride ion channel activity cell junction ion transmembrane transport chloride channel complex regulation of membrane potential cell projection neuron projection response to amino acid synapse postsynaptic membrane metal ion binding neurological system process synaptic transmission, glycinergic regulation of postsynaptic membrane potential excitatory postsynaptic potential cellular response to amino acid stimulus cellular response to zinc ion cellular response to ethanol chloride transmembrane transport transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  uc010neq.1 uc010neq.2 uc010neq.3 uc010neq.4 uc010neq.5 
ENST00000218089.13 STAG2 ENST00000218089.13 Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. (from UniProt Q8N3U4) B1AMT5 D3DTF5 ENST00000218089.1 ENST00000218089.10 ENST00000218089.11 ENST00000218089.12 ENST00000218089.2 ENST00000218089.3 ENST00000218089.4 ENST00000218089.5 ENST00000218089.6 ENST00000218089.7 ENST00000218089.8 ENST00000218089.9 NM_001375366 O00540 Q5JTI6 Q68DE9 Q8N3U4 Q9H1N8 SA2 STAG2_HUMAN uc004eua.1 uc004eua.2 uc004eua.3 uc004eua.4 uc004eua.5 Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Interacts directly with RAD21 in cohesin complex. Cohesin complexes are composed of a heterodimer between a SMC1 protein (SMC1A or SMC1B) and SMC3, which are attached via their hinge domain, and RAD21 which link them at their heads, and one STAG protein (STAG1, STAG2 or STAG3). In cohesin complexes, STAG2 is mutually exclusive with STAG1 and STAG3. Q29RF7:PDS5A; NbExp=3; IntAct=EBI-1057252, EBI-1175454; Q9NTI5:PDS5B; NbExp=3; IntAct=EBI-1057252, EBI-1175604; Q9UQE7:SMC3; NbExp=6; IntAct=EBI-1057252, EBI-80718; Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK1, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of cohesin is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N3U4-1; Sequence=Displayed; Name=2; IsoId=Q8N3U4-2; Sequence=VSP_041119; Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity). Belongs to the SCC3 family. Contains 1 SCD (stromalin conservative) domain. Sequence=CAA99732.1; Type=Erroneous initiation; chromosome, centromeric region chromatin chromatin binding protein binding nucleus nucleoplasm chromosome cytosol cell cycle chromosome segregation sister chromatid cohesion cohesin complex membrane nuclear matrix cell division meiotic cell cycle mitotic spindle pole regulation of mitotic spindle assembly  uc004eua.1 uc004eua.2 uc004eua.3 uc004eua.4 uc004eua.5 
ENST00000218099.7 F9 ENST00000218099.7 Homo sapiens coagulation factor IX (F9), transcript variant 1, mRNA. (from RefSeq NM_000133) A8K9N4 ENST00000218099.1 ENST00000218099.2 ENST00000218099.3 ENST00000218099.4 ENST00000218099.5 ENST00000218099.6 F2RM36 FA9_HUMAN NM_000133 P00740 Q5JYJ8 uc004fas.1 uc004fas.2 uc004fas.3 This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]. Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa. Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa. Heterodimer of a light chain and a heavy chain; disulfide-linked. Secreted. Synthesized primarily in the liver and secreted in plasma. Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domain. Activated by factor XIa, which excises the activation peptide. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) [MIM:306900]; also known as Christmas disease. Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide, mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide. Defects in F9 are the cause of thrombophilia due to factor IX defect (THPH8) [MIM:300807]. A hemostatic disorder characterized by a tendency to thrombosis. Available under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B. In 1952, one of the earliest researchers of the disease, Dr. R.G. Macfarlane used the patient's surname, Christmas, to refer to the disease and also to refer to the clotting factor which he called the 'Christmas Factor' At the time Stephen Christmas was a 5-year-old boy. He died in 1993 at the age of 46 from acquired immunodeficiency syndrome contracted through treatment with blood products. Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 Gla (gamma-carboxy-glutamate) domain. Contains 1 peptidase S1 domain. Name=Wikipedia; Note=Factor IX entry; URL="http://en.wikipedia.org/wiki/Factor_IX"; Name=HAEMB; Note=Hemophilia B mutation database; URL="http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F9"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f9/"; Name=BeneFix; Note=Clinical information on BeneFix; URL="http://www.wyeth.com/products/benefix.asp"; Name=Protein Spotlight; Note=The Christmas Factor - Issue 41 of December 2003; URL="http://web.expasy.org/spotlight/back_issues/sptlt041.shtml"; endopeptidase activity serine-type endopeptidase activity calcium ion binding protein binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen plasma membrane proteolysis ER to Golgi vesicle-mediated transport blood coagulation blood coagulation, intrinsic pathway hemostasis peptidase activity serine-type peptidase activity hydrolase activity zymogen activation metal ion binding extracellular exosome  uc004fas.1 uc004fas.2 uc004fas.3 
ENST00000218104.6 ABCD1 ENST00000218104.6 Homo sapiens ATP binding cassette subfamily D member 1 (ABCD1), mRNA. (from RefSeq NM_000033) ABCD1_HUMAN ALD ENST00000218104.1 ENST00000218104.2 ENST00000218104.3 ENST00000218104.4 ENST00000218104.5 NM_000033 P33897 Q6GTZ2 uc004fif.1 uc004fif.2 uc004fif.3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC025358.1, Z21876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218104.6/ ENSP00000218104.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity. Can form homodimers and heterodimers with ABCD2/ALDR and ABCD3/PMP70. Dimerization is necessary to form an active transporter. Interacts with PEX19. Self; NbExp=2; IntAct=EBI-81045, EBI-81045; P48410:Abcd1 (xeno); NbExp=2; IntAct=EBI-81045, EBI-81118; P28288:ABCD3; NbExp=2; IntAct=EBI-81045, EBI-80992; Peroxisome membrane; Multi-pass membrane protein. Defects in ABCD1 are the cause of adrenoleukodystrophy X- linked (X-ALD) [MIM:300100]. X-ALD is a peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. Note=The promoter region of ABCD1 is deleted in the chromosome Xq28 deletion syndrome which involves ABCD1 and the neighboring gene BCAP31. Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. Contains 1 ABC transmembrane type-1 domain. Contains 1 ABC transporter domain. Name=X-ALD gene mutation database; URL="http://www.x-ald.nl/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCD1"; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P33897"; very long-chain fatty acid metabolic process nucleotide binding regulation of oxidative phosphorylation long-chain fatty acid transporter activity protein binding ATP binding cytoplasm mitochondrion lysosome lysosomal membrane peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane cytosol fatty acid beta-oxidation peroxisome organization fatty-acyl-CoA transporter activity peroxisomal long-chain fatty acid import fatty-acyl-CoA transport peroxisomal membrane transport membrane integral component of membrane ATPase activity enzyme binding fatty acid elongation mitochondrial membrane regulation of fatty acid beta-oxidation positive regulation of fatty acid beta-oxidation fatty acid beta-oxidation using acyl-CoA oxidase alpha-linolenic acid metabolic process very long-chain fatty-acyl-CoA catabolic process ATPase activity, coupled to transmembrane movement of substances long-chain fatty acid catabolic process very long-chain fatty acid catabolic process identical protein binding protein homodimerization activity myelin maintenance ADP binding linoleic acid metabolic process perinuclear region of cytoplasm regulation of mitochondrial depolarization transmembrane transport fatty acid homeostasis sterol homeostasis negative regulation of cytokine production involved in inflammatory response regulation of cellular response to oxidative stress negative regulation of reactive oxygen species biosynthetic process neuron projection maintenance positive regulation of unsaturated fatty acid biosynthetic process  uc004fif.1 uc004fif.2 uc004fif.3 
ENST00000218147.11 BCORL1 ENST00000218147.11 Homo sapiens BCL6 corepressor like 1 (BCORL1), transcript variant 1, mRNA. (from RefSeq NM_021946) B5MDQ8 BCORL_HUMAN ENST00000218147.1 ENST00000218147.10 ENST00000218147.2 ENST00000218147.3 ENST00000218147.4 ENST00000218147.5 ENST00000218147.6 ENST00000218147.7 ENST00000218147.8 ENST00000218147.9 NM_021946 Q5H9F2 Q5H9F3 Q5H9F4 Q6ZVE0 Q8TEN3 Q9Y528 uc065bbq.1 The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Sequence Note:. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: AK074089.1 [ECO:0000331] ##Evidence-Data-END## Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Interacts with CTBP1. Interacts with HDAC4, HDAC5 and HDAC7. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5H9F3-1; Sequence=Displayed; Name=2; IsoId=Q5H9F3-2; Sequence=VSP_029778; Name=3; IsoId=Q5H9F3-3; Sequence=VSP_029779; Detected in testis and prostate. Detected at lower levels in peripheral blood leukocytes and spleen. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the BCOR family. Contains 3 ANK repeats. Sequence=BAC85922.1; Type=Erroneous initiation; protein binding nucleus nucleoplasm plasma membrane chromatin organization  uc065bbq.1 
ENST00000218176.4 KCND1 ENST00000218176.4 Homo sapiens potassium voltage-gated channel subfamily D member 1 (KCND1), mRNA. (from RefSeq NM_004979) B2RCG0 ENST00000218176.1 ENST00000218176.2 ENST00000218176.3 KCND1_HUMAN NM_004979 O75671 Q9NSA2 uc004dlx.1 uc004dlx.2 uc004dlx.3 This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activity of voltage-gated potassium channels is important in a number of physiological processes, among them the regulation of neurotransmitter release, heart rate, insulin secretion, and smooth muscle contraction. [provided by RefSeq, Aug 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC045659.1, AB021865.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218176.4/ ENSP00000218176.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits. Homotetramer or heterotetramer with KCND2 and/or KCND3. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (By similarity). Interacts with DPP10 (Probable). Membrane; Multi-pass membrane protein. Cell projection, dendrite (By similarity). Widely expressed. Highly expressed in brain, in particular in cerebellum and thalamus; detected at lower levels in the other parts of the brain. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily. ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity A-type (transient outward) potassium channel activity potassium channel activity cellular_component plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex membrane integral component of membrane dendrite regulation of ion transmembrane transport cell projection neuronal cell body metal ion binding protein homooligomerization transmembrane transport cardiac conduction potassium ion transmembrane transport  uc004dlx.1 uc004dlx.2 uc004dlx.3 
ENST00000218197.9 SLC25A14 ENST00000218197.9 Participates in the mitochondrial proton leak measured in brain mitochondria. (from UniProt O95258) AF078544 BMCP1 D3DTG2 ENST00000218197.1 ENST00000218197.2 ENST00000218197.3 ENST00000218197.4 ENST00000218197.5 ENST00000218197.6 ENST00000218197.7 ENST00000218197.8 O95258 Q0VDH7 Q9HC60 Q9HC61 UCP5 UCP5_HUMAN UNQ791/PRO1682 uc004evp.1 uc004evp.2 uc004evp.3 Participates in the mitochondrial proton leak measured in brain mitochondria. Mitochondrion inner membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=UCP5L; IsoId=O95258-1; Sequence=Displayed; Name=2; Synonyms=UCP5S; IsoId=O95258-2; Sequence=VSP_003272; Name=3; Synonyms=UCP5SI; IsoId=O95258-3; Sequence=VSP_003272, VSP_003273; Mainly expressed in brain. Some expression in testis and pituitary. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. mitochondrion mitochondrial envelope mitochondrial inner membrane integral component of plasma membrane mitochondrial transport aerobic respiration membrane integral component of membrane mitochondrial membrane hydrogen ion transmembrane transport  uc004evp.1 uc004evp.2 uc004evp.3 
ENST00000218200.12 FMR1 ENST00000218200.12 Homo sapiens FMRP translational regulator 1 (FMR1), transcript variant ISO10, non-coding RNA. (from RefSeq NR_033700) A6NNH4 D3DWT0 D3DWT1 D3DWT2 ENST00000218200.1 ENST00000218200.10 ENST00000218200.11 ENST00000218200.2 ENST00000218200.3 ENST00000218200.4 ENST00000218200.5 ENST00000218200.6 ENST00000218200.7 ENST00000218200.8 ENST00000218200.9 FMR1_HUMAN NR_033700 Q06787 Q16578 Q5PQZ6 Q99054 uc022cge.1 uc022cge.2 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]. Translation repressor. Component of the CYFIP1-EIF4E- FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA- binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C). Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with CYFIP1 and CYFIP2. The interaction with brain cytoplasmic RNA 1 (BC1) increases binding affinity for the CYFIP1-EIF4E complex in the brain (By similarity). Homooligomer. Found in a RNP granule complex with IGF2BP1. Directly interacts with SMN and TDRD3. Interacts with the SMN core complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts with FXR1, FXR2, IGF2BP1, NUFIP1, NUFIP2, MCRS1 and RANBP9. Q7L576:CYFIP1; NbExp=4; IntAct=EBI-366305, EBI-1048143; Q96F07:CYFIP2; NbExp=2; IntAct=EBI-366305, EBI-2433893; Cytoplasm. Nucleus, nucleolus. Event=Alternative splicing; Named isoforms=8; Comment=At least 12 different isoforms are produced; Name=6; IsoId=Q06787-1; Sequence=Displayed; Name=1; IsoId=Q06787-2; Sequence=VSP_002823, VSP_002826; Name=2; IsoId=Q06787-3; Sequence=VSP_002824; Name=3; IsoId=Q06787-4; Sequence=VSP_002824, VSP_002826; Name=4; IsoId=Q06787-5; Sequence=VSP_002825; Name=5; IsoId=Q06787-6; Sequence=VSP_002825, VSP_002826; Name=7; IsoId=Q06787-7; Sequence=VSP_002826; Name=8; IsoId=Q06787-8; Sequence=VSP_002823, VSP_002825; Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. The tandem Tudor domains preferentially recognize trimethylated histone peptides (By similarity). Phosphorylated on several serine residues (By similarity). Defects in FMR1 are the cause of fragile X syndrome (FRAX) [MIM:300624]. Fragile X syndrome is a common genetic disease (has a prevalence of one in every 2000 children) which is characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region. Defects in FMR1 are the cause of fragile X tremor/ataxia syndrome (FXTAS) [MIM:300623]. In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems. Defects in FMR1 are the cause of premature ovarian failure syndrome type 1 (POF1) [MIM:311360]. An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. RNA-binding activity is inhibited by RANBP9. The mechanism of the severe phenotype in the Asn- 304 patient lies in the sequestration of bound mRNAs in nontranslatable mRNP particles. In the absence of FMRP, these same mRNAs may be partially translated via alternate mRNPs, although perhaps abnormally localized or regulated, resulting in typical fragile X syndrome. Asn-304 mutation maps to a position within the second KH domain of FMRP that is critical for stabilizing sequence-specific RNA-protein interactions. Asn-304 mutation abrogates the association of the FMRP KH 2 domain with its target, kissing complex RNA. Belongs to the FMR1 family. Contains 2 Agenet-like domains. Contains 2 KH domains. Sequence=AAA52458.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAA62466.1; Type=Erroneous gene model prediction; Sequence=AAA62467.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FMR1"; regulation of alternative mRNA splicing, via spliceosome chromosome, centromeric region positive regulation of protein phosphorylation positive regulation of receptor internalization G-quadruplex RNA binding nucleic acid binding chromatin binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus nucleoplasm chromosome nucleolus cytoplasm cytosol polysome mRNA cap binding complex plasma membrane mRNA processing regulation of translation cellular response to DNA damage stimulus glutamate receptor signaling pathway nervous system development microtubule binding poly(U) RNA binding RNA splicing chromocenter cytoplasmic stress granule postsynaptic density Cajal body membrane viral process negative regulation of translation viral replication complex extrinsic component of plasma membrane cell junction translation repressor activity axon dendrite growth cone gene silencing by RNA translation initiation factor binding filopodium tip positive regulation of histone phosphorylation RNA strand annealing activity poly(G) binding cellular response to UV methylated histone binding siRNA binding miRNA binding RNA stem-loop binding ribonucleoprotein granule cytoplasmic ribonucleoprotein granule presynaptic membrane identical protein binding protein homodimerization activity cell projection neuron projection ribosome binding neuronal cell body dendritic spine perikaryon regulation of mRNA stability axon terminus ion channel binding dendritic spine neck modulation by host of viral RNA genome replication translation regulator activity synapse postsynaptic membrane positive regulation of translation negative regulation of translational initiation regulation of neurotransmitter secretion protein heterodimerization activity mRNA 5'-UTR binding perinuclear region of cytoplasm mRNA transport regulation of filopodium assembly positive regulation of filopodium assembly regulation of gene silencing by miRNA regulation of dendritic spine development positive regulation of dendritic spine development dynein complex binding neuronal ribonucleoprotein granule cellular response to hydroxyurea glial cell projection cellular response to virus presynapse postsynapse regulation of neuronal action potential negative regulation of long term synaptic depression positive regulation of intracellular transport of viral material negative regulation of voltage-gated calcium channel activity positive regulation of proteasomal protein catabolic process negative regulation of mRNA catabolic process positive regulation of mRNA binding dendritic filopodium messenger ribonucleoprotein complex growth cone filopodium sequence-specific mRNA binding ribonucleoprotein complex negative regulation of synaptic vesicle exocytosis positive regulation of gene silencing by miRNA negative regulation of cytoplasmic translation positive regulation of response to DNA damage stimulus SMN complex polysomal ribosome  uc022cge.1 uc022cge.2 
ENST00000218224.9 PQBP1 ENST00000218224.9 May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. (from UniProt O60828) AJ005893 ENST00000218224.1 ENST00000218224.2 ENST00000218224.3 ENST00000218224.4 ENST00000218224.5 ENST00000218224.6 ENST00000218224.7 ENST00000218224.8 JM26 NPW38 O60828 PQBP1_HUMAN Q4VY25 Q4VY26 Q4VY27 Q4VY29 Q4VY30 Q4VY34 Q4VY35 Q4VY36 Q4VY37 Q4VY38 Q9GZP2 Q9GZU4 Q9GZZ4 uc004dli.1 uc004dli.2 uc004dli.3 uc004dli.4 uc004dli.5 May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR. Interaction with ATXN1 correlates positively with the length of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner. Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II. Nucleus. Note=Co-localized with POU3F2. Co- localized with ATXN1 in nuclear inclusion bodies. Event=Alternative splicing; Named isoforms=10; Name=1; Synonyms=PQBP-1; IsoId=O60828-1; Sequence=Displayed; Name=2; IsoId=O60828-2; Sequence=VSP_015909; Name=3; Synonyms=PQBP-1b/c; IsoId=O60828-3; Sequence=VSP_015908, VSP_015910; Name=4; Synonyms=PQBP-1d; IsoId=O60828-4; Sequence=VSP_015903; Name=5; IsoId=O60828-5; Sequence=VSP_015900; Name=6; IsoId=O60828-6; Sequence=VSP_015906, VSP_015907; Name=7; IsoId=O60828-7; Sequence=VSP_015904, VSP_015905; Name=8; Synonyms=PQBP-1a; IsoId=O60828-8; Sequence=VSP_015896, VSP_015902; Name=9; IsoId=O60828-9; Sequence=VSP_015899, VSP_015901; Name=10; IsoId=O60828-10; Sequence=VSP_015897, VSP_015898; Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. The WW domain may play a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain mediates interaction with C-terminal domain of RNA polymerase II large subunit. Defects in PQBP1 are the cause of Renpenning syndrome 1 (RENS1) [MIM:309500]; also known as Sutherland-Haan X-linked mental retardation syndrome (SHS) or X-linked mental retardation syndromes MRXS3/MRXS8/MRX55. The clinical features are mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. RENS1 is more frequently in males than in females where little or no expression is found. Contains 1 WW domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PQBP1"; alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome activation of innate immune response positive regulation of defense response to virus by host immune system process DNA binding double-stranded DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated mRNA processing RNA splicing nuclear speck neuron projection development positive regulation of type I interferon production ribonucleoprotein complex binding regulation of RNA splicing innate immune response defense response to virus cellular response to exogenous dsRNA positive regulation of nucleic acid-templated transcription  uc004dli.1 uc004dli.2 uc004dli.3 uc004dli.4 uc004dli.5 
ENST00000218230.6 PCSK1N ENST00000218230.6 Homo sapiens proprotein convertase subtilisin/kexin type 1 inhibitor (PCSK1N), mRNA. (from RefSeq NM_013271) ENST00000218230.1 ENST00000218230.2 ENST00000218230.3 ENST00000218230.4 ENST00000218230.5 NM_013271 PCSK1_HUMAN Q4VC04 Q9UHG2 uc004dkz.1 uc004dkz.2 uc004dkz.3 uc004dkz.4 uc004dkz.5 uc004dkz.6 uc004dkz.7 The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC094731.1, BX459856.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218230.6/ ENSP00000218230.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function in the control of the neuroendocrine secretory pathway. Proposed be a specific endogenous inhibitor of PCSK1. ProSAAS and Big PEN-LEN, both containing the C-terminal inhibitory domain, but not the further processed peptides reduce PCSK1 activity in the endoplasmic reticulum and Golgi. It reduces the activity of the 84 kDa form but not the autocatalytically derived 66 kDa form of PCSK1. Subsequent processing of proSAAS may eliminate the inhibition. Slows down convertase-mediated processing of proopiomelanocortin and proenkephalin. May control the intracellular timing of PCSK1 rather than its total level of activity. The function of the processed secreted peptides is not known (By similarity). Interacts via the C-terminal inhibitory domain with PCSK1 66 kDa form (By similarity). Secreted (By similarity). Golgi apparatus, trans-Golgi network (By similarity). Note=A N-terminal processed peptide, probably Big SAAS or Little SAAS, is accumulated in cytoplasmic protein tau deposits in frontotemporal dementia and parkinsonism linked to chromosome 17 (Pick disease), Alzheimer disease and amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 (Guam disease). Expressed in brain and pancreas. ProSAAS(1-180) increases secretion of enzymatically inactive PCSK1 (By similarity). The C-terminal inhibitory domain is involved in inhibition of PCSK1. It corresponds to the probable processing intermediate Big PEN-LEN, binds to PCSK1 in vitro and contains the hexapeptide L-L-R-V-K-R, which, as a synthetic peptide, is sufficient for PCSK1 inhibition (By similarity). Proteolytically cleaved in the Golgi. O-glycosylated with a core 1 or possibly core 8 glycan. response to dietary excess endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity receptor binding extracellular region extracellular space Golgi apparatus trans-Golgi network neuropeptide signaling pathway response to cold negative regulation of endopeptidase activity peptide hormone processing secretory granule  uc004dkz.1 uc004dkz.2 uc004dkz.3 uc004dkz.4 uc004dkz.5 uc004dkz.6 uc004dkz.7 
ENST00000218249.7 RAB40AL ENST00000218249.7 Homo sapiens RAB40A like (RAB40AL), mRNA. (from RefSeq NM_001031834) ENST00000218249.1 ENST00000218249.2 ENST00000218249.3 ENST00000218249.4 ENST00000218249.5 ENST00000218249.6 NM_001031834 P0C0E4 Q495H3 RB40L_HUMAN RLGP uc004ejs.1 uc004ejs.2 uc004ejs.3 uc004ejs.4 uc004ejs.5 This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]. ##Evidence-Data-START## Transcript is intronless :: BC101169.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218249.7/ ENSP00000218249.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Protein modification; protein ubiquitination. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Mitochondrion. Expressed in brain, heart, skeletal muscle, kidney and liver. Highest expression in brain. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity). Belongs to the small GTPase superfamily. Rab family. Contains 1 SOCS box domain. nucleotide binding GTPase activity GTP binding cytoplasm mitochondrion endosome plasma membrane intracellular protein transport synaptic vesicle membrane protein ubiquitination Rab protein signal transduction intracellular signal transduction protein localization to plasma membrane  uc004ejs.1 uc004ejs.2 uc004ejs.3 uc004ejs.4 uc004ejs.5 
ENST00000218316.4 GPR50 ENST00000218316.4 Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA. (from RefSeq NM_004224) ENST00000218316.1 ENST00000218316.2 ENST00000218316.3 MTR1L_HUMAN NM_004224 Q0VGG3 Q13585 Q3ZAR0 uc010ntg.1 uc010ntg.2 uc010ntg.3 uc010ntg.4 This gene product belongs to the G-protein coupled receptor 1 family. Even though this protein shares similarity with the melatonin receptors, it does not bind melatonin, however, it inhibits melatonin receptor 1A function through heterodimerization. Polymorphic variants of this gene have been associated with bipolar affective disorder in women. [provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U52219.1, BC103696.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142680, SAMEA2149876 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218316.4/ ENSP00000218316.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Does not bind melatonin. Homodimer, and heterodimer with MTNR1A and MTNR1B. Cell membrane; Multi-pass membrane protein. Hypothalamus and pituitary. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity protein binding nucleoplasm plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway cell-cell signaling melatonin receptor activity membrane integral component of membrane identical protein binding  uc010ntg.1 uc010ntg.2 uc010ntg.3 uc010ntg.4 
ENST00000218328.12 HUWE1 ENST00000218328.12 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase (from HGNC HUWE1) DQ097177 ENST00000218328.1 ENST00000218328.10 ENST00000218328.11 ENST00000218328.2 ENST00000218328.3 ENST00000218328.4 ENST00000218328.5 ENST00000218328.6 ENST00000218328.7 ENST00000218328.8 ENST00000218328.9 uc064zlk.1  uc064zlk.1 
ENST00000218340.4 RP2 ENST00000218340.4 Homo sapiens RP2 activator of ARL3 GTPase (RP2), mRNA. (from RefSeq NM_006915) ENST00000218340.1 ENST00000218340.2 ENST00000218340.3 NM_006915 O75695 Q86XJ7 Q9NU67 XRP2_HUMAN uc004dgw.1 uc004dgw.2 uc004dgw.3 uc004dgw.4 uc004dgw.5 uc004dgw.6 The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC043348.2, SRR1660803.127077.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218340.4/ ENSP00000218340.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins. Found in a complex with ARL3, RP2 and UNC119 (or UNC119B); RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119 (or UNC119B). Interacts with ARL3; interaction is direct and stimulated with the activated GTP- bound form of ARL3. Cell membrane; Lipid-anchor; Cytoplasmic side. Cell projection, cilium. Note=Detected predominantly to the plasma membrane of rod and cone photoreceptors. Not detected in the nucleus. Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer plexiform layer (ONL). Also detected in the bipolar, horizontal and amacrine cells in the inner nuclear layer (INL), extending to the inner plexiform layer (IPL) and though the ganglion cell layer (GCL) and into the nerve fiber layer (NFL) (at protein level). Myristoylated on Gly-2; which may be required for membrane targeting (Probable). Palmitoylated on Cys-3; which may be required for plasma membrane targeting (Probable). Mutation of Cys-3 targets the protein to internal membranes. Defects in RP2 are the cause of retinitis pigmentosa type 2 (RP2) [MIM:312600]; also known as X-linked retinitis pigmentosa 2 (XLRP-2). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the TBCC family. Contains 1 C-CAP/cofactor C-like domain. Name=Mutations of the RP2 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rp2mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP2"; nucleotide binding magnesium ion binding cell morphogenesis GTPase activator activity protein binding GTP binding nucleoplasm cytoplasm Golgi apparatus centriole plasma membrane cilium protein folding post-Golgi vesicle-mediated transport visual perception protein transport membrane nuclear body cytoplasmic vesicle ciliary basal body cell projection positive regulation of GTPase activity unfolded protein binding extracellular exosome periciliary membrane compartment post-chaperonin tubulin folding pathway  uc004dgw.1 uc004dgw.2 uc004dgw.3 uc004dgw.4 uc004dgw.5 uc004dgw.6 
ENST00000218348.7 USP11 ENST00000218348.7 Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA breaks. (from UniProt P51784) B2RTX1 BC140849 ENST00000218348.1 ENST00000218348.2 ENST00000218348.3 ENST00000218348.4 ENST00000218348.5 ENST00000218348.6 P51784 Q8IUG6 Q9BWE1 UBP11_HUMAN UHX1 uc064yux.1 Protease that can remove conjugated ubiquitin from target proteins and polyubiquitin chains. Inhibits the degradation of target proteins by the proteasome. Plays a role in the regulation of pathways leading to NF-kappa-B activation. Plays a role in the regulation of DNA repair after double-stranded DNA breaks. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Interacts with RANBP9/RANBPM. Interacts with BRCA2, CHUK/IKKA and NFKBIA. Interacts with papilloma virus protein 16E7. P03129:E7 (xeno); NbExp=6; IntAct=EBI-306876, EBI-866453; P04608:tat (xeno); NbExp=3; IntAct=EBI-306876, EBI-6164389; Nucleus. Cytoplasm. Note=Predominantly nuclear. Associates with chromatin. Belongs to the peptidase C19 family. Contains 1 DUSP domain. It is uncertain whether Met-1 or Met-44 is the initiator. Sequence=AAC50450.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC50450.1; Type=Frameshift; Positions=65, 117, 134, 146; Sequence=BAC20463.1; Type=Erroneous initiation; Sequence=CAD20056.1; Type=Erroneous gene model prediction; cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm chromosome cytoplasm cytosol proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity  uc064yux.1 
ENST00000218364.5 HTATSF1 ENST00000218364.5 Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 2, mRNA. (from RefSeq NM_014500) D3DWG9 ENST00000218364.1 ENST00000218364.2 ENST00000218364.3 ENST00000218364.4 HTSF1_HUMAN NM_014500 O43719 Q59G06 Q99730 uc004ezx.1 uc004ezx.2 uc004ezx.3 uc004ezx.4 uc004ezx.5 The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009]. Functions as a general transcription factor playing a role in the process of transcriptional elongation. May mediate the reciprocal stimulatory effect of splicing on transcriptional elongation. In case of infection by HIV-1, it is up-regulated by the HIV-1 proteins NEF and gp120, acts as a cofactor required for the Tat-enhanced transcription of the virus. Component of a complex which is at least composed of HTATSF1/Tat-SF1, the P-TEFb complex components CDK9 and CCNT1, RNA polymerase II, SUPT5H, and NCL/nucleolin. Interacts with GTF2F2/RAP30 and POLR2A. Interacts with TCERG1/CA150. Interacts with SF3A2/SAP62 and the spliceosomal U small nuclear ribonucleoproteins (snRNPs). Nucleus. Widely expressed. The RRM domains mediate interaction with U snRNPs. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the HTATSF1 family. Contains 2 RRM (RNA recognition motif) domains. Sequence=AAB18823.1; Type=Frameshift; Positions=383, 391, 393; Sequence=BAD92540.1; Type=Erroneous initiation; mRNA splicing, via spliceosome nucleic acid binding RNA binding nucleus nucleoplasm U2-type spliceosomal complex U2 snRNP regulation of transcription from RNA polymerase II promoter viral genome replication regulation of DNA-templated transcription, elongation  uc004ezx.1 uc004ezx.2 uc004ezx.3 uc004ezx.4 uc004ezx.5 
ENST00000218388.9 TIMP1 ENST00000218388.9 Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA. (from RefSeq NM_003254) ENST00000218388.1 ENST00000218388.2 ENST00000218388.3 ENST00000218388.4 ENST00000218388.5 ENST00000218388.6 ENST00000218388.7 ENST00000218388.8 NM_003254 Q6FGX5 Q6FGX5_HUMAN RP1-230G1.3-001 hCG_29141 uc004dif.1 uc004dif.2 uc004dif.3 uc004dif.4 uc004dif.5 This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000866.1, GQ891504.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218388.9/ ENSP00000218388.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Contains 1 NTR domain. cell activation protease binding connective tissue replacement involved in inflammatory response wound healing extracellular region collagen trimer basement membrane aging metalloendopeptidase inhibitor activity response to organic substance negative regulation of endopeptidase activity extracellular matrix response to cytokine wound healing negative regulation of apoptotic process response to peptide hormone cartilage development  uc004dif.1 uc004dif.2 uc004dif.3 uc004dif.4 uc004dif.5 
ENST00000218432.10 PIN4 ENST00000218432.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMW3) BC070288 ENST00000218432.1 ENST00000218432.2 ENST00000218432.3 ENST00000218432.4 ENST00000218432.5 ENST00000218432.6 ENST00000218432.7 ENST00000218432.8 ENST00000218432.9 J3KMW3 J3KMW3_HUMAN uc064zwn.1 uc064zwn.2 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleus nucleolus  uc064zwn.1 uc064zwn.2 
ENST00000218436.7 ITIH6 ENST00000218436.7 Homo sapiens inter-alpha-trypsin inhibitor heavy chain family member 6 (ITIH6), mRNA. (from RefSeq NM_198510) A6NN03 ENST00000218436.1 ENST00000218436.2 ENST00000218436.3 ENST00000218436.4 ENST00000218436.5 ENST00000218436.6 ITIH5L ITIH6_HUMAN NM_198510 Q6UXX5 UNQ6369/PRO21074 uc004dtj.1 uc004dtj.2 uc004dtj.3 The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]. ##Evidence-Data-START## Transcript exon combination :: AY358170.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968832, SAMEA2142853 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218436.7/ ENSP00000218436.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted (By similarity). Belongs to the ITIH family. Contains 1 VIT domain. Contains 1 VWFA domain. serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity hyaluronan metabolic process peptidase inhibitor activity  uc004dtj.1 uc004dtj.2 uc004dtj.3 
ENST00000218439.8 MAGED2 ENST00000218439.8 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNF1-1; Sequence=Displayed; Name=2; IsoId=Q9UNF1-2; Sequence=VSP_008030; Note=No experimental confirmation available; (from UniProt Q9UNF1) A6NMX0 BC000304 BCG1 ENST00000218439.1 ENST00000218439.2 ENST00000218439.3 ENST00000218439.4 ENST00000218439.5 ENST00000218439.6 ENST00000218439.7 MAGD2_HUMAN O76058 Q5BJF3 Q8NAL6 Q9H218 Q9P0U9 Q9UM52 Q9UNF1 uc064zmr.1 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNF1-1; Sequence=Displayed; Name=2; IsoId=Q9UNF1-2; Sequence=VSP_008030; Note=No experimental confirmation available; Widely expressed in normal tissues. Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 1 MAGE domain. platelet degranulation protein binding extracellular region nucleus nucleolus cytosol female pregnancy membrane platelet alpha granule lumen renal sodium ion absorption  uc064zmr.1 
ENST00000218516.4 GLA ENST00000218516.4 Homo sapiens galactosidase alpha (GLA), transcript variant 1, mRNA. (from RefSeq NM_000169) ENST00000218516.1 ENST00000218516.2 ENST00000218516.3 NM_000169 Q53Y83 Q53Y83_HUMAN hCG_20401 uc004ehl.1 uc004ehl.2 uc004ehl.3 This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK222627.1, X05790.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218516.4/ ENSP00000218516.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## catalytic activity hydrolase activity, hydrolyzing O-glycosyl compounds alpha-galactosidase activity lysosome carbohydrate metabolic process metabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds galactoside binding  uc004ehl.1 uc004ehl.2 uc004ehl.3 
ENST00000218548.10 ATP12A ENST00000218548.10 Homo sapiens ATPase H+/K+ transporting non-gastric alpha2 subunit (ATP12A), transcript variant 1, mRNA. (from RefSeq NM_001185085) AT12A_HUMAN ATP1AL1 ENST00000218548.1 ENST00000218548.2 ENST00000218548.3 ENST00000218548.4 ENST00000218548.5 ENST00000218548.6 ENST00000218548.7 ENST00000218548.8 ENST00000218548.9 NM_001185085 P54707 Q13816 Q13817 Q16734 Q5W035 Q8N5U2 uc010aaa.1 uc010aaa.2 uc010aaa.3 uc010aaa.4 The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]. Catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. Responsible for potassium absorption in various tissues. ATP + H(2)O + H(+)(In) + K(+)(Out) = ADP + phosphate + H(+)(Out) + K(+)(In). Composed of two subunits: alpha (catalytic) and beta. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P54707-1; Sequence=Displayed; Name=2; IsoId=P54707-2; Sequence=VSP_034640; Note=No experimental confirmation available; Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at protein level). Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. nucleotide binding sodium:potassium-exchanging ATPase activity ATP binding plasma membrane hydrogen:potassium-exchanging ATPase complex ion transport potassium ion transport cellular sodium ion homeostasis regulation of pH potassium-transporting ATPase activity hydrogen:potassium-exchanging ATPase activity establishment or maintenance of transmembrane electrochemical gradient membrane integral component of membrane basolateral plasma membrane cation-transporting ATPase activity cellular potassium ion homeostasis ion transmembrane transport sodium ion export from cell metal ion binding potassium ion homeostasis potassium ion import across plasma membrane  uc010aaa.1 uc010aaa.2 uc010aaa.3 uc010aaa.4 
ENST00000218652.12 NDFIP2 ENST00000218652.12 Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA. (from RefSeq NM_019080) ENST00000218652.1 ENST00000218652.10 ENST00000218652.11 ENST00000218652.2 ENST00000218652.3 ENST00000218652.4 ENST00000218652.5 ENST00000218652.6 ENST00000218652.7 ENST00000218652.8 ENST00000218652.9 KIAA1165 N4WBP5A NFIP2_HUMAN NM_019080 Q7Z2H3 Q7Z428 Q8TAR3 Q9NV92 Q9ULQ5 uc058xra.1 uc058xra.2 Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. May modulate EGFR signaling. Forms heterodimers with NDFIP1. Interacts with HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4. Interacts with NEDD4L (By similarity). Interacts with PTEN. When phosphorylated at Tyr-167, interacts with SRC and LYN SH2 domain. May thus act as a scaffold that recruits SRC to NDFIP1, enhancing NDFIP1 phosphorylation. Interacts with SLC11A2/DMT1. May interact with phosphorylated EGFR. Endosome membrane; Multi-pass membrane protein. Golgi apparatus membrane. Endosome, multivesicular body membrane. Expressed in brain, lung, heart, skeletal muscle, kidney, liver and placenta. By T-cell activation. The PY (WW-binding) motifs are required for E3 ubiquitin- protein ligase activation and for ubiquitination. Ubiquitinated by NEDD4 and ITCH. Also ubiquitinated by NEDD4L. Ubiquitination by NEDD4 or NEDD4L does not affect turnover (By similarity). Undergoes transient tyrosine-phosphorylation following EGF stimulation, most probably catalyzed by SRC. Also phosphorylated by LYN and FYN. Sequence=AAH21988.1; Type=Erroneous initiation; Sequence=AAH26126.1; Type=Erroneous initiation; Sequence=BAA91863.1; Type=Erroneous initiation; Golgi membrane protein binding cytoplasm mitochondrion endosome endoplasmic reticulum Golgi apparatus ubiquitin-dependent protein catabolic process vacuolar transport endosome membrane negative regulation of gene expression membrane integral component of membrane metal ion transport positive regulation of protein ubiquitination negative regulation of transporter activity multivesicular body membrane positive regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle perinuclear region of cytoplasm WW domain binding negative regulation of protein transport  uc058xra.1 uc058xra.2 
ENST00000218721.1 MLNR ENST00000218721.1 Homo sapiens motilin receptor (MLNR), mRNA. (from RefSeq NM_001507) GPR38 MTLR MTLR1 MTLR_HUMAN NM_001507 O43193 uc010tgj.1 uc010tgj.2 Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY603964.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145240, SAMEA2145313 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218721.1/ ENSP00000218721.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for motilin. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=O43193-1; Sequence=Displayed; Name=B; IsoId=O43193-2; Sequence=VSP_001894; Expressed only in thyroid, stomach, and bone marrow. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled peptide receptor activity membrane integral component of membrane hormone binding  uc010tgj.1 uc010tgj.2 
ENST00000218758.10 ACP5 ENST00000218758.10 Homo sapiens acid phosphatase 5, tartrate resistant (ACP5), transcript variant 1, mRNA. (from RefSeq NM_001111035) A8K3V2 ENST00000218758.1 ENST00000218758.2 ENST00000218758.3 ENST00000218758.4 ENST00000218758.5 ENST00000218758.6 ENST00000218758.7 ENST00000218758.8 ENST00000218758.9 NM_001111035 P13686 PPA5_HUMAN Q2TAB1 Q6IAS6 Q9UCJ5 Q9UCJ6 Q9UCJ7 uc002msi.1 uc002msi.2 uc002msi.3 uc002msi.4 uc002msi.5 uc002msi.6 This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]. Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias. A phosphate monoester + H(2)O = an alcohol + phosphate. Binds 2 iron ions per subunit. Exists either as monomer or, after proteolytic processing, as a dimer of two chains linked by disulfide bond(s). Lysosome. Defects in ACP5 are the cause of spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944]. A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. Note=ACP5 inactivating mutations result in a functional excess of phosphorylated osteopontin causing deregulation of osteopontin signaling and consequential autoimmune disease. Belongs to the metallophosphoesterase superfamily. Purple acid phosphatase family. Name=Wikipedia; Note=Tartrate-resistant acid phosphatase entry; URL="http://en.wikipedia.org/wiki/Tartrate-resistant_acid_phosphatase"; ossification acid phosphatase activity lysosome cytosol riboflavin metabolic process ferrous iron binding ferric iron binding integral component of membrane dephosphorylation hydrolase activity response to lipopolysaccharide negative regulation of interleukin-1 beta production negative regulation of interleukin-12 production negative regulation of tumor necrosis factor production negative regulation of superoxide anion generation response to cytokine negative regulation of nitric oxide biosynthetic process bone resorption metal ion binding negative regulation of inflammatory response defense response to Gram-positive bacterium bone morphogenesis  uc002msi.1 uc002msi.2 uc002msi.3 uc002msi.4 uc002msi.5 uc002msi.6 
ENST00000218789.9 ARHGEF7 ENST00000218789.9 Homo sapiens Rho guanine nucleotide exchange factor 7 (ARHGEF7), transcript variant 21, mRNA. (from RefSeq NM_001354055) B1ALK7 B1ALK7_HUMAN ENST00000218789.1 ENST00000218789.2 ENST00000218789.3 ENST00000218789.4 ENST00000218789.5 ENST00000218789.6 ENST00000218789.7 ENST00000218789.8 NM_001354055 RP11-494P5.1-001 uc058yii.1 This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.9578.1, SRR1803613.145791.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity regulation of Rho protein signal transduction intracellular signal transduction  uc058yii.1 
ENST00000218867.4 SGCG ENST00000218867.4 Homo sapiens sarcoglycan gamma (SGCG), transcript variant 4, mRNA. (from RefSeq NM_001378246) ENST00000218867.1 ENST00000218867.2 ENST00000218867.3 NM_001378246 Q13326 Q32M32 Q5T9J6 SGCG_HUMAN uc001uom.1 uc001uom.2 uc001uom.3 uc001uom.4 This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK316579.1, SRR5189655.131113.1 [ECO:0000332] ##Evidence-Data-END## Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity). Interacts with FLNC. P21399:ACO1; NbExp=2; IntAct=EBI-5357343, EBI-2847111; O75190:DNAJB6; NbExp=2; IntAct=EBI-5357343, EBI-1053164; O75923:DYSF; NbExp=3; IntAct=EBI-5357343, EBI-2799016; Cell membrane, sarcolemma; Single-pass type II membrane protein (By similarity). Cytoplasm, cytoskeleton (By similarity). Expressed in skeletal and heart muscle. Defects in SGCG are the cause of limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]. LGMD2C is characterized by progressive muscle wasting from early childhood. Belongs to the sarcoglycan beta/delta/gamma/zeta family. Name=Leiden Muscular Dystrophy pages; Note=SGCG mutations in LGMD2C; URL="http://www.dmd.nl/sgcg_home.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCG"; protein binding nucleoplasm cytoplasm cytoskeleton plasma membrane muscle organ development dystroglycan complex sarcoglycan complex membrane integral component of membrane sarcolemma cardiac muscle tissue development heart contraction  uc001uom.1 uc001uom.2 uc001uom.3 uc001uom.4 
ENST00000218981.5 DHRS12 ENST00000218981.5 Homo sapiens dehydrogenase/reductase 12 (DHRS12), transcript variant 12, non-coding RNA. (from RefSeq NR_165332) A0PJE2 DHR12_HUMAN ENST00000218981.1 ENST00000218981.2 ENST00000218981.3 ENST00000218981.4 NR_165332 Q96GB2 Q9H8H1 uc001vfr.1 uc001vfr.2 uc001vfr.3 This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.328226.1 [ECO:0000332] ##Evidence-Data-END## Putative oxidoreductase (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A0PJE2-1; Sequence=Displayed; Name=2; IsoId=A0PJE2-2; Sequence=VSP_029724, VSP_029726, VSP_029727; Name=3; IsoId=A0PJE2-3; Sequence=VSP_029724, VSP_029725; Belongs to the short-chain dehydrogenases/reductases (SDR) family. oxidoreductase activity oxidation-reduction process  uc001vfr.1 uc001vfr.2 uc001vfr.3 
ENST00000219022.3 OLFM4 ENST00000219022.3 Homo sapiens olfactomedin 4 (OLFM4), mRNA. (from RefSeq NM_006418) ENST00000219022.1 ENST00000219022.2 GW112 NM_006418 O95362 OLFM4_HUMAN Q5VWG0 Q6UX06 Q86T22 UNQ362/PRO698 uc001vhl.1 uc001vhl.2 uc001vhl.3 uc001vhl.4 uc001vhl.5 This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358567.1, BC117329.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219022.3/ ENSP00000219022.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May promote proliferation of pancreatic cancer cells by favoring the transition from the S to G2/M phase. In myeloid leukemic cell lines, inhibits cell growth and induces cell differentiation and apoptosis. May play a role in the inhibition of EIF4EBP1 phosphorylation/deactivation. Facilitates cell adhesion, most probably through interaction with cell surface lectins and cadherin. Homomultimer; disulfide-linked. Interacts with NDUFA13. Interacts with cell surface lectins (locutions ricinus communis agglutinin I, concanavalin-A and wheat germ agglutinin) and cadherin. Secreted, extracellular space. Mitochondrion. Note=Subcellular location is not clearly defined: has been shown to be secreted (PubMed:16566923), but also in the mitochondrion (PubMed:15059901 and PubMed:20724538), cytoplasm and plasma membrane (PubMed:20724538) and in the nucleus (PubMed:15059901). Expressed during myeloid lineage development. Much higher expression in bone marrow neutrophils than in peripheral blood neutrophils (at protein level). Strongly expressed in the prostate, small intestine and colon and moderately expressed in the bone marrow and stomach. Overexpressed in some pancreatic cancer tissues. Elevated expression during the early S phase of the cell cycle, followed by a gradual decrease during late S phase. By retinoic acid. This induction requires functional NFKB pathway. The olfactomedin-like domain is involved in the interaction with cadherin. N-glycosylated. Contains 1 olfactomedin-like domain. Sequence=AAC72970.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC72970.1; Type=Frameshift; Positions=Several; catalytic activity protein binding extracellular region extracellular space mitochondrion plasma membrane cell adhesion specific granule lumen specific granule protein homodimerization activity neutrophil degranulation cadherin binding perinuclear region of cytoplasm protein homooligomerization extracellular exosome positive regulation of substrate adhesion-dependent cell spreading tertiary granule lumen regulation of necrotic cell death secretory granule azurophil granule regulation of apoptotic process regulation of phagocytosis regulation of neutrophil extravasation  uc001vhl.1 uc001vhl.2 uc001vhl.3 uc001vhl.4 uc001vhl.5 
ENST00000219054.10 ACSM2A ENST00000219054.10 Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity). (from UniProt Q08AH3) ACS2A_HUMAN ACSM2 AK096039 B3KTT9 ENST00000219054.1 ENST00000219054.2 ENST00000219054.3 ENST00000219054.4 ENST00000219054.5 ENST00000219054.6 ENST00000219054.7 ENST00000219054.8 ENST00000219054.9 MACS2 O75202 Q08AH3 uc059rqq.1 Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4- unsaturated acids (in vitro) (By similarity). ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA. Magnesium or manganese. Monomer (By similarity). Mitochondrion matrix (By similarity). Belongs to the ATP-dependent AMP-binding enzyme family. Sequence=AAC23497.1; Type=Erroneous gene model prediction; nucleotide binding catalytic activity acyl-CoA ligase activity fatty-acyl-CoA synthase activity ATP binding mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process acyl-CoA metabolic process fatty acid ligase activity ligase activity benzoate-CoA ligase activity medium-chain fatty-acyl-CoA metabolic process glucose homeostasis metal ion binding butyrate-CoA ligase activity triglyceride homeostasis  uc059rqq.1 
ENST00000219066.5 NTHL1 ENST00000219066.5 Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for the repair of both oxidative DNA damage and spontaneous mutagenic lesions. (from UniProt P78549) ENST00000219066.1 ENST00000219066.2 ENST00000219066.3 ENST00000219066.4 NTH1 NTHL1_HUMAN OCTS3 P78549 Q1MVR1 Q99566 Q99794 Q9BPX2 U79718 uc002col.1 Has both an apurinic and/or apyrimidinic endonuclease activity and a DNA N-glycosylase activity. Incises damaged DNA at cytosines, thymines and guanines. Acts on a damaged strand, 5' from the damaged site. Required for the repair of both oxidative DNA damage and spontaneous mutagenic lesions. The C-O-P bond 3' to the apurinic or apyrimidinic site in DNA is broken by a beta-elimination reaction, leaving a 3'-terminal unsaturated sugar and a product with a terminal 5'-phosphate. Binds 1 4Fe-4S cluster. The cluster is not important for the catalytic activity, but which is probably involved in the proper positioning of the enzyme along the DNA strand. Nucleus. Widely expressed with highest levels in heart and lowest levels in lung and liver. Expression levels are regulated during the cell cycle with increased levels during early and mid S-phase. Belongs to the Nth/MutY family. It is uncertain whether Met-1, Met-9 or Met-16 is the initiator. Sequence=AAC51136.1; Type=Erroneous initiation; Sequence=AAH03014.1; Type=Erroneous initiation; Sequence=BAA19413.1; Type=Erroneous initiation; Sequence=BAA32695.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nthl1/"; oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity DNA binding double-stranded DNA binding catalytic activity DNA-(apurinic or apyrimidinic site) lyase activity endonuclease activity protein binding nucleus nucleoplasm mitochondrion DNA repair base-excision repair base-excision repair, AP site formation nucleotide-excision repair, DNA incision, 5'-to lesion cellular response to DNA damage stimulus metabolic process oxidized purine nucleobase lesion DNA N-glycosylase activity hydrolase activity hydrolase activity, acting on glycosyl bonds lyase activity DNA N-glycosylase activity depyrimidination metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding  uc002col.1 
ENST00000219069.6 ZNF263 ENST00000219069.6 Homo sapiens zinc finger protein 263 (ZNF263), mRNA. (from RefSeq NM_005741) B2R634 ENST00000219069.1 ENST00000219069.2 ENST00000219069.3 ENST00000219069.4 ENST00000219069.5 FPM315 NM_005741 O14978 O43387 Q96H95 ZKSCAN12 ZN263_HUMAN uc002cuq.1 uc002cuq.2 uc002cuq.3 uc002cuq.4 uc002cuq.5 Might play an important role in basic cellular processes as a transcriptional repressor. Nucleus (By similarity). Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers. Contains 1 KRAB domain. Contains 1 SCAN box domain. negative regulation of transcription from RNA polymerase II promoter transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding negative regulation of transcription, DNA-templated metal ion binding  uc002cuq.1 uc002cuq.2 uc002cuq.3 uc002cuq.4 uc002cuq.5 
ENST00000219070.9 MMP2 ENST00000219070.9 Homo sapiens matrix metallopeptidase 2 (MMP2), transcript variant 1, mRNA. (from RefSeq NM_004530) B2R6U1 CLG4A ENST00000219070.1 ENST00000219070.2 ENST00000219070.3 ENST00000219070.4 ENST00000219070.5 ENST00000219070.6 ENST00000219070.7 ENST00000219070.8 MMP2_HUMAN NM_004530 P08253 Q9UCJ8 uc002ehz.1 uc002ehz.2 uc002ehz.3 uc002ehz.4 uc002ehz.5 uc002ehz.6 This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels. Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the collagen-like sequence Pro-Gln-Gly-|- Ile-Ala-Gly-Gln. Binds 4 calcium ions per subunit. Binds 2 zinc ions per subunit. Inhibited by histatin-3 1/24 (histatin-5). Interacts (via the C-terminal hemopexin-like domains- containing region) with the integrin alpha-V/beta-3; the interaction promotes vascular invasion in angiogenic vessels and melamoma cells. Interacts (via the C-terminal PEX domain) with TIMP2 (via the C-terminal); the interaction inhibits the degradation activity. Interacts with GSK3B. Q8IX30:SCUBE3; NbExp=2; IntAct=EBI-1033518, EBI-4479975; Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes. Produced by normal skin fibroblasts. PEX is expressed in a number of tumors including gliomas, breast and prostate. Aspirin appears to inhibit expression. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. Phosphorylation on multiple sites modulates enzymatic activity. Phosphorylated by PKC in vitro. The propeptide is processed by MMP14 (MT-MMP1) and MMP16 (MT- MMP3). Autocatalytic cleavage in the C-terminal produces the anti- angiogenic peptide, PEX. This processing appears to be facilitated by binding integrinv/beta3. Defects in MMP2 are the cause of Torg-Winchester syndrome (TWS) [MIM:259600]; also known as multicentric osteolysis nodulosis and arthropathy (MONA). TWS is an autosomal recessive osteolysis syndrome. It is severe with generalized osteolysis and osteopenia. Subcutaneous nodules are usually absent. Torg- Winchester syndrome has been associated with a number of additional features including coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. However, these features are not always present and have occasionally been observed in other osteolysis syndromes. Belongs to the peptidase M10A family. Contains 3 fibronectin type-II domains. Contains 4 hemopexin-like domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MMP2ID41396ch16q13.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp2/"; angiogenesis response to hypoxia blood vessel maturation intramembranous ossification metalloendopeptidase activity serine-type endopeptidase activity protein binding extracellular region extracellular space nucleus cytoplasm mitochondrion plasma membrane proteolysis embryo implantation peptidase activity metallopeptidase activity zinc ion binding membrane hydrolase activity cytokine-mediated signaling pathway extracellular matrix disassembly sarcomere extracellular matrix organization collagen catabolic process extracellular matrix cellular response to reactive oxygen species endodermal cell differentiation cellular protein metabolic process metal ion binding ephrin receptor signaling pathway positive regulation of smooth muscle cell proliferation skeletal system morphogenesis tissue remodeling face morphogenesis bone trabecula formation cellular response to amino acid stimulus response to beta-amyloid positive regulation of vascular smooth muscle cell proliferation  uc002ehz.1 uc002ehz.2 uc002ehz.3 uc002ehz.4 uc002ehz.5 uc002ehz.6 
ENST00000219084.10 CHD9 ENST00000219084.10 chromodomain helicase DNA binding protein 9 (from HGNC CHD9) DQ059482 ENST00000219084.1 ENST00000219084.2 ENST00000219084.3 ENST00000219084.4 ENST00000219084.5 ENST00000219084.6 ENST00000219084.7 ENST00000219084.8 ENST00000219084.9 uc059uet.1  uc059uet.1 
ENST00000219091.9 ZNF205 ENST00000219091.9 Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA. (from RefSeq NM_001042428) A8MZK0 D3DUB4 ENST00000219091.1 ENST00000219091.2 ENST00000219091.3 ENST00000219091.4 ENST00000219091.5 ENST00000219091.6 ENST00000219091.7 ENST00000219091.8 NM_001042428 O95201 Q9BU95 ZN205_HUMAN ZNF210 uc002cub.1 uc002cub.2 uc002cub.3 uc002cub.4 uc002cub.5 May be involved in transcriptional regulation. Q9NRR5:UBQLN4; NbExp=2; IntAct=EBI-747343, EBI-711226; Nucleus (Probable). Expressed in heart, skeletal muscle, pancreas and brain. Weakly expressed in placenta, lung, liver, kidney and thymus. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 8 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAC70007.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding protein binding nucleus mitochondrion regulation of transcription, DNA-templated zinc ion binding positive regulation of hydrogen peroxide biosynthetic process metal ion binding positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway  uc002cub.1 uc002cub.2 uc002cub.3 uc002cub.4 uc002cub.5 
ENST00000219097.7 ORC6 ENST00000219097.7 Homo sapiens origin recognition complex subunit 6 (ORC6), transcript variant 2, non-coding RNA. (from RefSeq NR_037620) B3KN89 ENST00000219097.1 ENST00000219097.2 ENST00000219097.3 ENST00000219097.4 ENST00000219097.5 ENST00000219097.6 NR_037620 ORC6L ORC6_HUMAN Q9Y5N6 uc002eeh.1 uc002eeh.2 uc002eeh.3 uc002eeh.4 The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]. Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. ORC is composed of six subunits. In human, ORC is cell cycle-dependent regulated: it is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase. Interacts with DBF4 (By similarity). Q9UBD5:ORC3; NbExp=4; IntAct=EBI-374840, EBI-374916; Nucleus. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in ORC6 are the cause of Meier-Gorlin syndrome type 3 (MGORS3) [MIM:613803]. MGORS3 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Belongs to the ORC6 family. G1/S transition of mitotic cell cycle origin recognition complex fibrillar center DNA binding DNA replication origin binding protein binding nucleus nucleoplasm nuclear origin of replication recognition complex DNA replication DNA replication initiation membrane negative regulation of cell division  uc002eeh.1 uc002eeh.2 uc002eeh.3 uc002eeh.4 
ENST00000219139.8 PHAF1 ENST00000219139.8 Homo sapiens chromosome 16 open reading frame 70 (C16orf70), transcript variant 1, mRNA. (from RefSeq NM_025187) C16orf6 C16orf70 CP070_HUMAN ENST00000219139.1 ENST00000219139.2 ENST00000219139.3 ENST00000219139.4 ENST00000219139.5 ENST00000219139.6 ENST00000219139.7 NM_025187 Q9BSU1 Q9HA86 uc002erd.1 uc002erd.2 uc002erd.3 uc002erd.4 uc002erd.5 P54252:ATXN3; NbExp=2; IntAct=EBI-946080, EBI-946046; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSU1-1; Sequence=Displayed; Name=2; IsoId=Q9BSU1-2; Sequence=VSP_026623, VSP_026624, VSP_026625; Note=No experimental confirmation available; Belongs to the UPF0183 family. Was originally (Ref.1) thought to be a lin-10 homolog. protein binding trans-Golgi network dendrite synaptic vesicle membrane Golgi to plasma membrane protein transport  uc002erd.1 uc002erd.2 uc002erd.3 uc002erd.4 uc002erd.5 
ENST00000219150.10 CORO1A ENST00000219150.10 Homo sapiens coronin 1A (CORO1A), transcript variant 2, mRNA. (from RefSeq NM_007074) B2RBL1 COR1A_HUMAN CORO1 ENST00000219150.1 ENST00000219150.2 ENST00000219150.3 ENST00000219150.4 ENST00000219150.5 ENST00000219150.6 ENST00000219150.7 ENST00000219150.8 ENST00000219150.9 NM_007074 P31146 Q2YD73 uc002dww.1 uc002dww.2 uc002dww.3 uc002dww.4 uc002dww.5 This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]. May be a crucial component of the cytoskeleton of highly motile cells, functioning both in the invagination of large pieces of plasma membrane, as well as in forming protrusions of the plasma membrane involved in cell locomotion. In mycobacteria- infected cells, its retention on the phagosomal membrane prevents fusion between phagosomes and lysosomes. Binds actin (By similarity). P40763:STAT3; NbExp=2; IntAct=EBI-1046676, EBI-518675; Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Cytoplasmic vesicle, phagosome membrane (By similarity). Note=In non-infected macrophages, associated with the cortical microtubule network. In mycobacteria-infected macrophages, becomes progressively relocalized and retained around the mycobacterial phagosomes. Retention on the phagosomal membrane is strictly dependent on mycobacterial viability and not due to impaired acidification (By similarity). Expressed in brain, thymus, spleen, bone marrow and lymph node. Low in lung and gut. Belongs to the WD repeat coronin family. Contains 7 WD repeats. immunological synapse phagolysosome assembly phagocytic cup RNA binding actin binding actin monomer binding protein binding cytoplasm early endosome cytosol cytoskeleton actin filament plasma membrane cell-cell junction cell cortex calcium ion transport phagocytosis actin filament organization protein C-terminus binding regulation of actin polymerization or depolymerization cytoskeletal protein binding regulation of cell shape actin cytoskeleton membrane cell migration lamellipodium actin cytoskeleton organization positive regulation of cell migration axon leukocyte chemotaxis phagocytic vesicle membrane regulation of actin filament polymerization cortical actin cytoskeleton cell leading edge negative regulation of vesicle fusion cytoplasmic vesicle cell-substrate adhesion myosin heavy chain binding uropod organization regulation of actin cytoskeleton organization macromolecular complex response to cytokine nerve growth factor signaling pathway positive regulation of T cell proliferation identical protein binding protein homodimerization activity T cell homeostasis natural killer cell degranulation negative regulation of neuron apoptotic process phosphatidylinositol 3-kinase binding innate immune response synapse phagocytic vesicle homeostasis of number of cells within a tissue positive regulation of T cell activation positive chemotaxis actin filament binding negative regulation of actin nucleation regulation of release of sequestered calcium ion into cytosol early endosome to recycling endosome transport extracellular exosome cellular response to interleukin-4 glutamatergic synapse immunological synapse formation nucleus  uc002dww.1 uc002dww.2 uc002dww.3 uc002dww.4 uc002dww.5 
ENST00000219162.4 MT4 ENST00000219162.4 Homo sapiens metallothionein 4 (MT4), mRNA. (from RefSeq NM_032935) ENST00000219162.1 ENST00000219162.2 ENST00000219162.3 MT4_HUMAN NM_032935 P47944 Q14DA1 uc002eje.1 uc002eje.2 Seems to bind zinc and copper. Could play a special role in regulating zinc metabolism during the differentiation of stratified epithelia. Belongs to the metallothionein superfamily. Type 1 family. nucleus cytoplasm cellular metal ion homeostasis cellular zinc ion homeostasis biological_process detoxification of copper ion metal ion binding cellular response to cadmium ion cellular response to copper ion cellular response to zinc ion  uc002eje.1 uc002eje.2 
ENST00000219168.8 LYRM1 ENST00000219168.8 Homo sapiens LYR motif containing 1 (LYRM1), transcript variant 25, non-coding RNA. (from RefSeq NR_161426) B2R4M5 ENST00000219168.1 ENST00000219168.2 ENST00000219168.3 ENST00000219168.4 ENST00000219168.5 ENST00000219168.6 ENST00000219168.7 LYRM1_HUMAN NR_161426 O43325 uc002dia.1 uc002dia.2 uc002dia.3 uc002dia.4 uc002dia.5 uc002dia.6 The protein encoded by this gene belongs to the mitochondrial leucine/tyrosine/arginine motif family of proteins. Proteins of this family are short polypeptides that contain a leucine/tyrosine/arginine motif near the N-terminus. This gene is widely expressed with high levels in omental adipose tissue of obese individuals. In adipose tissue, the protein is localized to the nucleus where it promotes preadipocyte proliferation and lowers the rate of apoptosis to regulate adipose tissue homeostasis. Overexpression of this gene in adipocytes causes abnormal mitochondrial morphology and mitochondrial dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## May promote cell proliferation and inhibition of apoptosis of preadipocytes. Nucleus. High levels in adipose tissue. Note=When overexpressed, may be involved in obesity- associated insulin resistance, possibly by causing mitochondrial dysfunction in adipocytes. Belongs to the complex I LYR family. nucleus nucleoplasm midbody  uc002dia.1 uc002dia.2 uc002dia.3 uc002dia.4 uc002dia.5 uc002dia.6 
ENST00000219169.9 NUTF2 ENST00000219169.9 Homo sapiens nuclear transport factor 2 (NUTF2), transcript variant 1, mRNA. (from RefSeq NM_005796) B2R4G7 ENST00000219169.1 ENST00000219169.2 ENST00000219169.3 ENST00000219169.4 ENST00000219169.5 ENST00000219169.6 ENST00000219169.7 ENST00000219169.8 NM_005796 NTF2 NTF2_HUMAN P13662 P61970 Q6IB67 uc002eup.1 uc002eup.2 uc002eup.3 uc002eup.4 uc002eup.5 This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [provided by RefSeq, Apr 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1105906.1, SRR3476690.653232.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219169.9/ ENSP00000219169.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Facilitates protein transport into the nucleus. Interacts with the nucleoporin p62 and with Ran. Acts at a relatively late stage of nuclear protein import, subsequent to the initial docking of nuclear import ligand at the nuclear envelope. Could be part of a multicomponent system of cytosolic factors that assemble at the pore complex during nuclear import. Homodimer. Cytoplasm. Contains 1 NTF2 domain. protein binding nucleus nuclear inner membrane nuclear outer membrane nuclear pore nucleoplasm cytoplasm cytosol protein import into nucleus protein export from nucleus nucleocytoplasmic transport Ran GTPase binding protein transport membrane structural constituent of nuclear pore nuclear membrane positive regulation of protein import into nucleus identical protein binding nuclear pore central transport channel mRNA transport nuclear import signal receptor activity extracellular exosome protein localization to nuclear pore negative regulation of vascular endothelial growth factor production  uc002eup.1 uc002eup.2 uc002eup.3 uc002eup.4 uc002eup.5 
ENST00000219197.11 CBLN1 ENST00000219197.11 Homo sapiens cerebellin 1 precursor (CBLN1), mRNA. (from RefSeq NM_004352) B2RAN9 CBLN1_HUMAN ENST00000219197.1 ENST00000219197.10 ENST00000219197.2 ENST00000219197.3 ENST00000219197.4 ENST00000219197.5 ENST00000219197.6 ENST00000219197.7 ENST00000219197.8 ENST00000219197.9 NM_004352 P02682 P23435 Q52M09 uc002efq.1 uc002efq.2 uc002efq.3 uc002efq.4 uc002efq.5 This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1141237.1, SRR3476690.238601.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219197.11/ ENSP00000219197.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cerebellin-1 is required for synapse integrity and synaptic plasticity. Required for the ER export and secretion of CBLN3 (By similarity). Cerebellin exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA- dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity). Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers associate via N-terminal cysteine residues to form disulfide-linked hexamers. Probably forms a heteomeric complex with CBLN3. May interact with CBLN2 and CBLN4 (By similarity). Secreted. Membrane. Cell junction, synapse. Note=Might be bound to, or associated with, a membrane. In the Purkinje cells postsynaptic structures. In the cerebellum, cerebellin is much less abundant than [des- Ser1]-cerebellin. Low at birth, the cerebellin concentration increases between day 5 and 15, and reaches peak values between day 21 and 56. The proteolytic processing to yield cerebellin seems to occur either prior to the secretion by presynaptic neurons and subsequent oligomerization or in some other location after release of the mature protein. Contains 1 C1q domain. protein binding extracellular region plasma membrane heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules chemical synaptic transmission nervous system development protein secretion membrane cerebellar granule cell differentiation cell junction protein homodimerization activity synaptic cleft synapse postsynaptic membrane positive regulation of synapse assembly negative regulation of excitatory postsynaptic potential glutamatergic synapse positive regulation of long term synaptic depression regulation of presynapse assembly  uc002efq.1 uc002efq.2 uc002efq.3 uc002efq.4 uc002efq.5 
ENST00000219204.8 ARL2BP ENST00000219204.8 Homo sapiens ADP ribosylation factor like GTPase 2 binding protein (ARL2BP), mRNA. (from RefSeq NM_012106) AR2BP_HUMAN B3KQJ5 BART BART1 ENST00000219204.1 ENST00000219204.2 ENST00000219204.3 ENST00000219204.4 ENST00000219204.5 ENST00000219204.6 ENST00000219204.7 NM_012106 Q504R0 Q9Y2Y0 uc002elf.1 uc002elf.2 uc002elf.3 ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.49844.1, SRR3476690.1049778.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219204.8/ ENSP00000219204.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2. Found in a complex with ARL2BP, ARL2 and SLC25A6. Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with STAT2, STAT3 and STAT4. Interacts with GTP bound ARL2 and ARL3; the complex ARL2-ARL2BP as well as ARL2BP alone, binds to ANT1. Interacts with STAT3; interaction is enhanced with ARL2. Cytoplasm. Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, centrosome. Nucleus. Cytoplasm, cytoskeleton, spindle. Note=The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Detected in the midbody matrix. Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2Y0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2Y0-2; Sequence=VSP_025317, VSP_025318; Note=No experimental confirmation available; Ubiquitous. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the ARL2BP family. transcription coactivator activity protein binding nucleus cytoplasm mitochondrion mitochondrial intermembrane space mitochondrial matrix centrosome microtubule organizing center spindle cytosol cytoskeleton cilium signal transduction midbody GTPase regulator activity positive regulation of tyrosine phosphorylation of STAT protein cell projection regulation of catalytic activity regulation of insulin secretion maintenance of protein location in nucleus positive regulation of nucleic acid-templated transcription  uc002elf.1 uc002elf.2 uc002elf.3 
ENST00000219207.10 PLLP ENST00000219207.10 Homo sapiens plasmolipin (PLLP), mRNA. (from RefSeq NM_015993) B2R9T6 ENST00000219207.1 ENST00000219207.2 ENST00000219207.3 ENST00000219207.4 ENST00000219207.5 ENST00000219207.6 ENST00000219207.7 ENST00000219207.8 ENST00000219207.9 NM_015993 PLLP_HUMAN PMLP Q9Y342 TM4SF11 uc002elg.1 uc002elg.2 uc002elg.3 uc002elg.4 Appears to be involved in myelination. Could also participate in ion transport events as addition of plasmolipin to lipid bilayers induces the formation of ion channels, which are voltage-dependent and K(+)-selective (By similarity). Hexamer arranged as a trimer of two plasmolipin subunits (By similarity). Membrane; Multi-pass membrane protein. Belongs to the MAL family. Contains 1 MARVEL domain. protein binding ion transport response to wounding membrane integral component of membrane structural constituent of myelin sheath myelination compact myelin membrane raft  uc002elg.1 uc002elg.2 uc002elg.3 uc002elg.4 
ENST00000219235.5 CCL22 ENST00000219235.5 Homo sapiens C-C motif chemokine ligand 22 (CCL22), mRNA. (from RefSeq NM_002990) A-152E5.1 A0N0Q6 B2R4W2 CCL22_HUMAN ENST00000219235.1 ENST00000219235.2 ENST00000219235.3 ENST00000219235.4 MDC NM_002990 O00626 SCYA22 uc002elh.1 uc002elh.2 uc002elh.3 uc002elh.4 uc002elh.5 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.47952.1, U83171.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219235.5/ ENSP00000219235.4 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in the trafficking of activated/effector T-lymphocytes to inflammatory sites and other aspects of activated T-lymphocyte physiology. Chemotactic for monocytes, dendritic cells and natural killer cells. Mild chemoattractant for primary activated T-lymphocytes and a potent chemoattractant for chronically activated T-lymphocytes but has no chemoattractant activity for neutrophils, eosinophils, and resting T-lymphocytes. Binds to CCR4. Processed forms MDC(3-69), MDC(5-69) and MDC(7-69) seem not be active. Secreted. Highly expressed in macrophage and in monocyte-derived dendritic cells, and thymus. Also found in lymph node, appendix, activated monocytes, resting and activated macrophages. Lower expression in lung and spleen. Very weak expression in small intestine. In lymph node expressed in a mature subset of Langerhans' cells (CD1a+ and CD83+). Expressed in Langerhans' cell histiocytosis but not in dermatopathic lymphadenopathy. Expressed in atopic dermatitis, allergic contact dermatitis skin, and psoriasis, in both the epidermis and dermis. The N-terminal processed forms MDC(3-69), MDC(5-69) and MDC(7-69) are produced by proteolytic cleavage after secretion from monocyte derived dendrocytes. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL22 entry; URL="http://en.wikipedia.org/wiki/CCL22"; monocyte chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity response to virus cytokine-mediated signaling pathway neutrophil chemotaxis killing of cells of other organism positive regulation of GTPase activity CCR chemokine receptor binding lymphocyte chemotaxis cell chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor  uc002elh.1 uc002elh.2 uc002elh.3 uc002elh.4 uc002elh.5 
ENST00000219240.9 DHODH ENST00000219240.9 Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001361) A8K8C8 ENST00000219240.1 ENST00000219240.2 ENST00000219240.3 ENST00000219240.4 ENST00000219240.5 ENST00000219240.6 ENST00000219240.7 ENST00000219240.8 NM_001361 PYRD_HUMAN Q02127 Q6P176 uc002fbp.1 uc002fbp.2 uc002fbp.3 uc002fbp.4 uc002fbp.5 The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.136604.1, SRR1803617.224526.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000219240.9/ ENSP00000219240.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. (S)-dihydroorotate + a quinone = orotate + a quinol. Binds 1 FMN per subunit. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1. Monomer. Mitochondrion inner membrane; Single-pass membrane protein. The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration. Defects in DHODH are the cause of postaxial acrofacial dysostosis (POADS) [MIM:263750]; also known as Miller syndrome. POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. The identification of DHODH defects as the cause of postaxial acrofacial dysostosis (POADS) was obtained via exome sequencing (PubMed:19915526), demonstrating that this method is a powerful tool for identifying genes underlying rare mendelian disorders. Exome sequencing consists of targeted resequencing of all protein-coding subsequences, which requires around 5% as much sequencing as a whole human genome. Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily. catalytic activity dihydroorotate dehydrogenase activity nucleoplasm cytoplasm mitochondrion mitochondrial inner membrane cytosol 'de novo' pyrimidine nucleobase biosynthetic process pyrimidine nucleotide biosynthetic process female pregnancy lactation drug binding pyrimidine ribonucleotide biosynthetic process FMN binding response to organic cyclic compound membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors response to caffeine response to drug response to starvation neuronal cell body positive regulation of apoptotic process 'de novo' UMP biosynthetic process pyrimidine nucleoside biosynthetic process ubiquinone binding oxidation-reduction process regulation of mitochondrial fission response to L-arginine  uc002fbp.1 uc002fbp.2 uc002fbp.3 uc002fbp.4 uc002fbp.5 
ENST00000219244.9 CCL17 ENST00000219244.9 Homo sapiens C-C motif chemokine ligand 17 (CCL17), mRNA. (from RefSeq NM_002987) A0N0Q9 CCL17_HUMAN ENST00000219244.1 ENST00000219244.2 ENST00000219244.3 ENST00000219244.4 ENST00000219244.5 ENST00000219244.6 ENST00000219244.7 ENST00000219244.8 NM_002987 Q2M287 Q92583 SCYA17 TARC uc002elj.1 uc002elj.2 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000219244.9/ ENSP00000219244.4 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4. Secreted. Expressed at high levels in thymus and at low levels in the lung, colon and small intestine. By phytohemagglutinin (PHA) in the peripheral blood mononuclear cells and by cytokines in monocytes. Belongs to the intercrine beta (chemokine CC) family. Was originally (PubMed:9521068) thought to be a ligand for CCR8. Name=Wikipedia; Note=CCL17 entry; URL="http://en.wikipedia.org/wiki/CCL17"; monocyte chemotaxis receptor binding cytokine activity protein binding extracellular region extracellular space chemotaxis inflammatory response immune response G-protein coupled receptor signaling pathway cell-cell signaling multicellular organism development chemokine activity neutrophil chemotaxis killing of cells of other organism CCR4 chemokine receptor binding positive regulation of GTPase activity negative regulation of myoblast differentiation CCR chemokine receptor binding lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor  uc002elj.1 uc002elj.2 
ENST00000219251.13 ACD ENST00000219251.13 Homo sapiens ACD shelterin complex subunit and telomerase recruitment factor (ACD), transcript variant 2, mRNA. (from RefSeq NM_022914) ACD_HUMAN ENST00000219251.1 ENST00000219251.10 ENST00000219251.11 ENST00000219251.12 ENST00000219251.2 ENST00000219251.3 ENST00000219251.4 ENST00000219251.5 ENST00000219251.6 ENST00000219251.7 ENST00000219251.8 ENST00000219251.9 NM_022914 PIP1 PTOP Q562H5 Q96AP0 Q9H8F9 TINT1 TPP1 uc002etp.1 uc002etp.2 uc002etp.3 uc002etp.4 uc002etp.5 uc002etp.6 This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. Plays a role in shelterin complex assembly. May play a role in organogenesis. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with STN1/OBFC1 and TINF2. Q9NUX5:POT1; NbExp=3; IntAct=EBI-717666, EBI-752420; Q9BSI4-3:TINF2; NbExp=6; IntAct=EBI-717666, EBI-717418; Nucleus. Chromosome, telomere. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96AP0-1; Sequence=Displayed; Name=2; IsoId=Q96AP0-2; Sequence=VSP_019066; Sequence=AAX82621.1; Type=Erroneous initiation; Note=Translation N-terminally extended; telomere maintenance chromosome, telomeric region nuclear telomere cap complex nuclear chromosome, telomeric region DNA binding protein binding nucleus nucleoplasm chromosome intracellular protein transport telomere capping nuclear body protection from non-homologous end joining at telomere telomere assembly negative regulation of telomere maintenance via telomerase positive regulation of telomere maintenance via telomerase telomeric DNA binding macromolecular complex binding positive regulation of telomerase activity positive regulation of single-stranded telomeric DNA binding DNA polymerase binding telosome protein localization to chromosome, telomeric region establishment of protein localization to telomere  uc002etp.1 uc002etp.2 uc002etp.3 uc002etp.4 uc002etp.5 uc002etp.6 
ENST00000219252.10 POLR2C ENST00000219252.10 Homo sapiens RNA polymerase II subunit C (POLR2C), mRNA. (from RefSeq NM_032940) ENST00000219252.1 ENST00000219252.2 ENST00000219252.3 ENST00000219252.4 ENST00000219252.5 ENST00000219252.6 ENST00000219252.7 ENST00000219252.8 ENST00000219252.9 NM_032940 Q6FGR6 Q6FGR6_HUMAN hCG_2025883 uc002elt.1 uc002elt.2 uc002elt.3 This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003159.1, SRR3476690.801283.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219252.10/ ENSP00000219252.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## DNA binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm cytoplasm cytosol transcription, DNA-templated microtubule cytoskeleton protein dimerization activity  uc002elt.1 uc002elt.2 uc002elt.3 
ENST00000219255.3 PARD6A ENST00000219255.3 Homo sapiens par-6 family cell polarity regulator alpha (PARD6A), transcript variant 1, mRNA. (from RefSeq NM_016948) ENST00000219255.1 ENST00000219255.2 NM_016948 O14911 PAR6A PAR6A_HUMAN Q9NPB6 Q9NPJ7 uc002ett.1 uc002ett.2 uc002ett.3 uc002ett.4 This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in the formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins. Interacts with MAP2K5 (By similarity). Interacts with PARD3. Interacts with GTP-bound forms of CDC42, ARHQ/TC10 and RAC1. Interacts with the N-terminal part of PRKCI and PRKCZ. Part of a complex with PARD3, CDC42 or RAC1 and PRKCI or PRKCZ. Part of a complex with LLGL1 and PRKCI (By similarity). Interacts with human T-cell leukemia virus type I TAX protein. Interacts with MPP5 and CRB3. Interacts with TGFBR1; involved in TGF-beta induced epithelial to mesenchymal transition. Interacts with ECT2 ('Thr- 359' phosphorylated form) and PRKCI. P60953:CDC42; NbExp=7; IntAct=EBI-81876, EBI-81752; Q8TEW0:PARD3; NbExp=7; IntAct=EBI-81876, EBI-81968; Q8ND90:PNMA1; NbExp=2; IntAct=EBI-81876, EBI-302345; P41743:PRKCI; NbExp=9; IntAct=EBI-81876, EBI-286199; Q05513:PRKCZ; NbExp=3; IntAct=EBI-81876, EBI-295351; P63000:RAC1; NbExp=2; IntAct=EBI-81876, EBI-413628; Q04917:YWHAH; NbExp=2; IntAct=EBI-81876, EBI-306940; Cytoplasm. Cell membrane. Cell projection, ruffle. Cell junction, tight junction. Note=Colocalizes with GTP- bound CDC42 or RAC1 at membrane ruffles and with PARD3 and PRKCI at epithelial tight junctions. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPB6-1; Sequence=Displayed; Name=2; IsoId=Q9NPB6-2; Sequence=VSP_007459; Expressed in pancreas, skeletal muscle, brain and heart. Weakly expressed in kidney and placenta. The pseudo-CRIB domain together with the PDZ domain is required for the interaction with Rho small GTPases (By similarity). The OPR domain mediates interactions with MAP2K5 (By similarity). The PDZ domain mediates the interaction with CRB3. Phosphorylated by the TGF-beta receptor (By similarity). Belongs to the PAR6 family. Contains 1 OPR domain. Contains 1 PDZ (DHR) domain. Contains 1 pseudo-CRIB domain. ruffle negative regulation of protein phosphorylation protein kinase C binding protein binding nucleus cytoplasm centrosome microtubule organizing center cytosol cytoskeleton plasma membrane bicellular tight junction cell cortex cell cycle centrosome cycle establishment or maintenance of cell polarity transforming growth factor beta receptor signaling pathway transcription factor binding membrane viral process apical plasma membrane Rho GTPase binding cell junction GTP-dependent protein binding centriolar satellite cell projection cell-cell junction maintenance positive regulation of protein secretion cell division Wnt signaling pathway, planar cell polarity pathway regulation of cellular localization bicellular tight junction assembly positive regulation of protein localization to centrosome  uc002ett.1 uc002ett.2 uc002ett.3 uc002ett.4 
ENST00000219271.4 MMP15 ENST00000219271.4 Homo sapiens matrix metallopeptidase 15 (MMP15), mRNA. (from RefSeq NM_002428) A0A2U6 ENST00000219271.1 ENST00000219271.2 ENST00000219271.3 MMP15_HUMAN NM_002428 P51511 Q14111 uc002ena.1 uc002ena.2 uc002ena.3 uc002ena.4 uc002ena.5 This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein may play a role in cancer progression. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC036495.1, Z48482.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219271.4/ ENSP00000219271.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Endopeptidase that degrades various components of the extracellular matrix. May activate progelatinase A. Binds 1 zinc ion per subunit (By similarity). Calcium (By similarity). P04070:PROC; NbExp=2; IntAct=EBI-1383043, EBI-1383018; Membrane; Single-pass type I membrane protein; Extracellular side (Potential). Appeared to be synthesized preferentially in liver, placenta, testis, colon and intestine. Substantial amounts are also detected in pancreas, kidney, lung, heart and skeletal muscle. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. The precursor is cleaved by a furin endopeptidase (By similarity). Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Sequence=BAA13071.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp15/"; metalloendopeptidase activity protein binding extracellular space plasma membrane integral component of plasma membrane cellular protein modification process proteolysis enzyme activator activity peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane hydrolase activity extracellular matrix disassembly extracellular matrix organization collagen catabolic process extracellular matrix response to estradiol endodermal cell differentiation positive regulation of catalytic activity metal ion binding metalloaminopeptidase activity  uc002ena.1 uc002ena.2 uc002ena.3 uc002ena.4 uc002ena.5 
ENST00000219281.8 USB1 ENST00000219281.8 Homo sapiens U6 snRNA biogenesis phosphodiesterase 1 (USB1), transcript variant 1, mRNA. (from RefSeq NM_024598) B4DWE3 B4DZW5 C16orf57 ENST00000219281.1 ENST00000219281.2 ENST00000219281.3 ENST00000219281.4 ENST00000219281.5 ENST00000219281.6 ENST00000219281.7 NM_024598 Q96FZ9 Q9BQ65 Q9H8X8 USB1_HUMAN uc002emz.1 uc002emz.2 uc002emz.3 uc002emz.4 uc002emz.5 This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]. Putative phosphodiesterase responsible for the U6 snRNA 3' end processing. Acts as a ribonuclease (RNase) responsible for trimming the poly(U) tract of the last nucleotides in the pre-U6 snRNA molecule, leading to the formation of mature U6 snRNA 3'end- terminated with a 2',3'-cyclic phosphate. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BQ65-1; Sequence=Displayed; Name=2; IsoId=Q9BQ65-2; Sequence=VSP_042878; Note=No experimental confirmation available; Name=3; IsoId=Q9BQ65-3; Sequence=VSP_042936; Note=No experimental confirmation available; Defects in USB1 are the cause of poikiloderma with neutropenia (PN) [MIM:604173]. PN is a genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund-Thomson syndrome. Belongs to the USB1 family. 3'-5'-exoribonuclease activity nuclease activity nucleus RNA splicing hydrolase activity U6 snRNA 3'-end processing intercellular bridge nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, exonucleolytic poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends  uc002emz.1 uc002emz.2 uc002emz.3 uc002emz.4 uc002emz.5 
ENST00000219299.8 CCDC113 ENST00000219299.8 Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA. (from RefSeq NM_014157) B2RAQ7 B4DR20 CC113_HUMAN ENST00000219299.1 ENST00000219299.2 ENST00000219299.3 ENST00000219299.4 ENST00000219299.5 ENST00000219299.6 ENST00000219299.7 HSPC065 NM_014157 Q9H0I3 Q9NZX2 uc002ene.1 uc002ene.2 uc002ene.3 uc002ene.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0I3-1; Sequence=Displayed; Name=2; IsoId=Q9H0I3-2; Sequence=VSP_042753; Note=No experimental confirmation available; Sequence=AAF29037.1; Type=Frameshift; Positions=187; protein binding nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton cell projection organization macromolecular complex centriolar satellite cilium assembly  uc002ene.1 uc002ene.2 uc002ene.3 uc002ene.4 
ENST00000219301.8 PRSS54 ENST00000219301.8 Secreted (Probable). (from UniProt Q6PEW0) BC057843 ENST00000219301.1 ENST00000219301.2 ENST00000219301.3 ENST00000219301.4 ENST00000219301.5 ENST00000219301.6 ENST00000219301.7 KLKBL4 PRS54_HUMAN Q6PEW0 Q96LN9 Q9NT77 uc002enf.1 uc002enf.2 uc002enf.3 Secreted (Probable). The serine protease domain lacks the essential His, Asp, and Ser residues of the catalytic triad at positions 83, 129 and 221 and is predicted to be inactive. Belongs to the peptidase S1 family. Plasma kallikrein subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity extracellular region extracellular space proteolysis  uc002enf.1 uc002enf.2 uc002enf.3 
ENST00000219302.8 NME3 ENST00000219302.8 Homo sapiens NME/NM23 nucleoside diphosphate kinase 3 (NME3), mRNA. (from RefSeq NM_002513) ENST00000219302.1 ENST00000219302.2 ENST00000219302.3 ENST00000219302.4 ENST00000219302.5 ENST00000219302.6 ENST00000219302.7 NDK3_HUMAN NM_002513 Q13232 Q9BWH4 uc002cmm.1 uc002cmm.2 uc002cmm.3 uc002cmm.4 uc002cmm.5 Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate. Probably has a role in normal hematopoiesis by inhibition of granulocyte differentiation and induction of apoptosis. ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. Magnesium (By similarity). Preferentially expressed at early stages of myeloid differentiation of highly purified CD34+ cells. Belongs to the NDK family. nucleotide binding nucleoside diphosphate kinase activity protein binding ATP binding cytosol purine nucleotide metabolic process nucleoside diphosphate phosphorylation GTP biosynthetic process pyrimidine nucleotide metabolic process UTP biosynthetic process CTP biosynthetic process apoptotic process nucleotide metabolic process nucleobase-containing small molecule interconversion kinase activity phosphorylation transferase activity metal ion binding  uc002cmm.1 uc002cmm.2 uc002cmm.3 uc002cmm.4 uc002cmm.5 
ENST00000219313.9 PSMD7 ENST00000219313.9 Homo sapiens proteasome 26S subunit, non-ATPase 7 (PSMD7), mRNA. (from RefSeq NM_002811) D3DWS9 ENST00000219313.1 ENST00000219313.2 ENST00000219313.3 ENST00000219313.4 ENST00000219313.5 ENST00000219313.6 ENST00000219313.7 ENST00000219313.8 MOV34L NM_002811 P51665 PSD7_HUMAN Q6PKI2 Q96E97 uc002fcq.1 uc002fcq.2 uc002fcq.3 uc002fcq.4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1146516.1, SRR3476690.1155915.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219313.9/ ENSP00000219313.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a regulatory subunit of the 26S proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins. Homodimer. Does not bind a metal ion. Belongs to the peptidase M67A family. Contains 1 MPN (JAB/Mov34) domain. Sequence=AAH00338.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; MAPK cascade protein polyubiquitination proteasome complex stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding extracellular region nucleus nucleoplasm cytosol proteasome regulatory particle regulation of cellular amino acid metabolic process negative regulation of G2/M transition of mitotic cell cycle membrane protein deubiquitination anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway secretory granule lumen NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway protein homodimerization activity proteasome-mediated ubiquitin-dependent protein catabolic process neutrophil degranulation regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation ficolin-1-rich granule lumen  uc002fcq.1 uc002fcq.2 uc002fcq.3 uc002fcq.4 
ENST00000219315.9 SETD6 ENST00000219315.9 Homo sapiens SET domain containing 6, protein lysine methyltransferase (SETD6), transcript variant 1, mRNA. (from RefSeq NM_001160305) A8K380 B5ME38 ENST00000219315.1 ENST00000219315.2 ENST00000219315.3 ENST00000219315.4 ENST00000219315.5 ENST00000219315.6 ENST00000219315.7 ENST00000219315.8 NM_001160305 Q8TBK2 Q9H787 SETD6_HUMAN uc002ens.1 uc002ens.2 uc002ens.3 uc002ens.4 uc002ens.5 This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Protein-lysine N-methyltransferase that specifically monomethylates 'Lys-310' of the RELA subunit of NF-kappa-B complex, leading to down-regulate NF-kappa-B transcription factor activity. Q04207:Rela (xeno); NbExp=4; IntAct=EBI-3863032, EBI-644400; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TBK2-1; Sequence=Displayed; Name=2; IsoId=Q8TBK2-2; Sequence=VSP_024093; Note=No experimental confirmation available; Belongs to the SETD6 family. Contains 1 SET domain. protein binding nucleus nucleoplasm cytosol methyltransferase activity protein-lysine N-methyltransferase activity transferase activity peptidyl-lysine monomethylation stem cell population maintenance negative regulation of NF-kappaB transcription factor activity methylation histone lysine methylation stem cell differentiation regulation of inflammatory response NF-kappaB binding  uc002ens.1 uc002ens.2 uc002ens.3 uc002ens.4 uc002ens.5 
ENST00000219320.9 SLC38A7 ENST00000219320.9 Homo sapiens solute carrier family 38 member 7 (SLC38A7), transcript variant 7, non-coding RNA. (from RefSeq NR_161424) ENST00000219320.1 ENST00000219320.2 ENST00000219320.3 ENST00000219320.4 ENST00000219320.5 ENST00000219320.6 ENST00000219320.7 ENST00000219320.8 NR_161424 Q53GJ9 Q9H9I5 Q9NVC3 S38A7_HUMAN SNAT7 uc002eod.1 uc002eod.2 uc002eod.3 Mediates sodium-dependent transport of amino acids, preferentially L-glutamine (By similarity). Membrane; Multi-pass membrane protein (By similarity). Note=In neurons, located in soma and axons (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NVC3-1; Sequence=Displayed; Name=2; IsoId=Q9NVC3-2; Sequence=VSP_031511; Note=No experimental confirmation available; Belongs to the amino acid/polyamine transporter 2 family. amino acid transmembrane transport L-histidine transmembrane transporter activity L-glutamate transmembrane transporter activity protein binding ion transport sodium ion transport amino acid transport asparagine transport glutamine transport amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity L-alanine transmembrane transporter activity L-asparagine transmembrane transporter activity L-aspartate transmembrane transporter activity L-glutamine transmembrane transporter activity L-leucine transmembrane transporter activity L-methionine transmembrane transporter activity L-serine transmembrane transporter activity branched-chain amino acid transport neutral amino acid transport L-alanine transport L-glutamate transport methionine transport L-serine transport membrane integral component of membrane axon neuronal cell body L-aspartate transport L-histidine transmembrane transport cation transmembrane transport L-alpha-amino acid transmembrane transport  uc002eod.1 uc002eod.2 uc002eod.3 
ENST00000219322.7 HAS3 ENST00000219322.7 Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 2, mRNA. (from RefSeq NM_138612) A8K5T5 ENST00000219322.1 ENST00000219322.2 ENST00000219322.3 ENST00000219322.4 ENST00000219322.5 ENST00000219322.6 HAS3_HUMAN NM_138612 O00219 Q8WTZ0 Q9NYP0 uc002ewk.1 uc002ewk.2 uc002ewk.3 uc002ewk.4 The protein encoded by this gene is involved in the synthesis of the unbranched glycosaminoglycan hyaluronan, or hyaluronic acid, which is a major constituent of the extracellular matrix. This gene is a member of the NODC/HAS gene family. Compared to the proteins encoded by other members of this gene family, this protein appears to be more of a regulator of hyaluronan synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. Plays a role in hyaluronan/hyaluronic acid (HA) synthesis. UDP-alpha-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan) = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan). UDP-alpha-D-glucuronate + N-acetyl-beta-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan) = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan). Magnesium. Glycan biosynthesis; hyaluronan biosynthesis. Membrane; Multi-pass membrane protein (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00219-1; Sequence=Displayed; Name=2; IsoId=O00219-2; Sequence=VSP_042022; Note=No experimental confirmation available; Belongs to the NodC/HAS family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; protein binding cytoplasm plasma membrane integral component of plasma membrane carbohydrate metabolic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups hyaluronan biosynthetic process hyaluranon cable identical protein binding extracellular polysaccharide biosynthetic process positive regulation of transcription, DNA-templated hyaluronan synthase activity extracellular matrix assembly positive regulation of hyaluranon cable assembly  uc002ewk.1 uc002ewk.2 uc002ewk.3 uc002ewk.4 
ENST00000219334.10 SMPD3 ENST00000219334.10 Homo sapiens sphingomyelin phosphodiesterase 3 (SMPD3), mRNA. (from RefSeq NM_018667) ENST00000219334.1 ENST00000219334.2 ENST00000219334.3 ENST00000219334.4 ENST00000219334.5 ENST00000219334.6 ENST00000219334.7 ENST00000219334.8 ENST00000219334.9 NM_018667 NSMA2_HUMAN Q2M1S8 Q9NY59 uc002ewa.1 uc002ewa.2 uc002ewa.3 uc002ewa.4 uc002ewa.5 Catalyzes the hydrolysis of sphingomyelin to form ceramide and phosphocholine. Ceramide mediates numerous cellular functions, such as apoptosis and growth arrest, and is capable of regulating these 2 cellular events independently. Also hydrolyzes sphingosylphosphocholine. Regulates the cell cycle by acting as a growth suppressor in confluent cells. Probably acts as a regulator of postnatal development and participates in bone and dentin mineralization. Sphingomyelin + H(2)O = N-acylsphingosine + phosphocholine. Magnesium. Activated by unsaturated fatty acids and phosphatidylserine. pH dependence: Optimum pH is 7.5; Golgi apparatus membrane; Lipid-anchor. Cell membrane; Lipid-anchor. Note=May localize to detergent-resistant subdomains of Golgi membranes of hypothalamic neurosecretory neurons. According to PubMed:15051724, it localizes to plasma membrane in confluent contact-inhibited cells. Predominantly expressed in brain. Up-regulated during G0/G1 phases. Palmitoylated, palmitoylation-deficient proteins are targeted for lysosomal degradation (By similarity). Belongs to the neutral sphingomyelinase family. Golgi cis cisterna Golgi membrane skeletal system development ossification regulation of protein phosphorylation endochondral ossification chondrocyte development hematopoietic progenitor cell differentiation regulation of leukocyte migration chondrocyte development involved in endochondral bone morphogenesis phospholipase activity sphingomyelin phosphodiesterase activity protein binding cytoplasm Golgi apparatus plasma membrane lipid metabolic process sphingolipid metabolic process ceramide metabolic process sphingomyelin metabolic process sphingomyelin catabolic process glycosphingolipid metabolic process cell cycle signal transduction multicellular organism development polysaccharide transport membrane hydrolase activity peptide hormone secretion bone mineralization lung development BMP signaling pathway collagen metabolic process cellular response to reactive oxygen species multicellular organism growth identical protein binding protein kinase B signaling positive regulation of mitotic nuclear division metal ion binding platelet-derived growth factor receptor signaling pathway lung alveolus development positive regulation of smooth muscle cell proliferation cartilage development bone development respiratory system development regulation of cartilage development neutral sphingomyelin phosphodiesterase activity cellular response to hydrogen peroxide G1 to G0 transition cellular response to magnesium ion cellular response to tumor necrosis factor cellular response to redox state DNA biosynthetic process extracellular matrix assembly sphingolipid mediated signaling pathway dentinogenesis bone growth regulation of hyaluronan biosynthetic process negative regulation of hyaluronan biosynthetic process cellular response to peptide positive regulation of exosomal secretion positive regulation of ceramide biosynthetic process  uc002ewa.1 uc002ewa.2 uc002ewa.3 uc002ewa.4 uc002ewa.5 
ENST00000219343.11 SLC7A6 ENST00000219343.11 Homo sapiens solute carrier family 7 member 6 (SLC7A6), transcript variant 2, mRNA. (from RefSeq NM_003983) ENST00000219343.1 ENST00000219343.10 ENST00000219343.2 ENST00000219343.3 ENST00000219343.4 ENST00000219343.5 ENST00000219343.6 ENST00000219343.7 ENST00000219343.8 ENST00000219343.9 KIAA0245 NM_003983 Q68DS4 Q7L1N3 Q92536 YLAT2_HUMAN uc002evu.1 uc002evu.2 uc002evu.3 uc002evu.4 Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells. Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). Mutual inhibition is observed when leucine or glutamine is used as substrate. Inhibition of arginine and leucine uptake also occurs when SLC3A2/4F2hc is either truncated at its C-terminus or mutated at critical residues within the terminal 15 amino acids. Kinetic parameters: KM=295 uM for glutamine (in the presence of NaCl); KM=236 uM for leucine (in the presence of NaCl); KM=120 uM for arginine (in the presence of NaCl); KM=138 uM for arginine (in the absence of NaCl); Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. Basolateral cell membrane; Multi-pass membrane protein. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines. Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. Sequence=BAA13376.2; Type=Erroneous initiation; amino acid transmembrane transport plasma membrane integral component of plasma membrane amino acid transport amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity antiporter activity membrane integral component of membrane basolateral plasma membrane transmembrane transporter activity intracellular membrane-bounded organelle leukocyte migration transmembrane transport L-alpha-amino acid transmembrane transport  uc002evu.1 uc002evu.2 uc002evu.3 uc002evu.4 
ENST00000219345.10 PLA2G15 ENST00000219345.10 Homo sapiens phospholipase A2 group XV (PLA2G15), transcript variant 1, mRNA. (from RefSeq NM_012320) B3KMF3 ENST00000219345.1 ENST00000219345.2 ENST00000219345.3 ENST00000219345.4 ENST00000219345.5 ENST00000219345.6 ENST00000219345.7 ENST00000219345.8 ENST00000219345.9 LYPLA3 NM_012320 PAG15_HUMAN Q53GZ1 Q8NCC3 Q9NPQ6 Q9UG04 Q9Y2B3 UNQ341/PRO540 uc002evr.1 uc002evr.2 uc002evr.3 uc002evr.4 uc002evr.5 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]. Has transacylase and calcium-independent phospholipase A2 activity. Catalyzes the formation of 1-O-acyl-N- acetylsphingosine and the concomitant release of a lyso- phospholipid (By similarity). May have weak lysophospholipase activity. Lysosome (By similarity). Secreted. Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes. N-glycosylated. Belongs to the AB hydrolase superfamily. Lipase family. Sequence=CAB53675.1; Type=Erroneous initiation; lysophospholipase activity phospholipid binding extracellular region extracellular space nucleoplasm lysosome lipid metabolic process fatty acid metabolic process phospholipid metabolic process glycerophospholipid metabolic process ceramide metabolic process O-acyltransferase activity fatty acid catabolic process membrane lipid catabolic process transferase activity transferase activity, transferring acyl groups hydrolase activity phosphatidylcholine catabolic process intracellular membrane-bounded organelle phosphatidylethanolamine catabolic process phosphatidylcholine metabolic process calcium-independent phospholipase A2 activity extracellular exosome  uc002evr.1 uc002evr.2 uc002evr.3 uc002evr.4 uc002evr.5 
ENST00000219368.8 FA2H ENST00000219368.8 Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA. (from RefSeq NM_024306) ENST00000219368.1 ENST00000219368.2 ENST00000219368.3 ENST00000219368.4 ENST00000219368.5 ENST00000219368.6 ENST00000219368.7 FA2H_HUMAN FAAH NM_024306 O75213 Q7L5A8 Q96DK1 Q9H1A5 uc002fde.1 uc002fde.2 uc002fde.3 uc002fde.4 This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.205016.1, AK058016.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219368.8/ ENSP00000219368.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Required for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. Iron (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Microsome membrane; Multi-pass membrane protein. Detected in differentiating cultured keratinocytes (at protein level). Detected in epidermis and cultured keratinocytes. Highly expressed in brain and colon. Detected at lower levels in testis, prostate, pancreas and kidney. Up-regulated during keratinocyte differentiation. The histidine box domains may contain the active site and/or be involved in metal ion binding. Defects in FA2H are a cause of spastic paraplegia autosomal recessive type 35 (SPG35) [MIM:612319]. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Belongs to the sterol desaturase family. SCS7 subfamily. Contains 1 cytochrome b5 heme-binding domain. Sequence=AAC23496.1; Type=Erroneous gene model prediction; sebaceous gland cell differentiation iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process glucosylceramide biosynthetic process galactosylceramide biosynthetic process lipid biosynthetic process membrane integral component of membrane oxidoreductase activity heme binding sphingolipid biosynthetic process lipid modification organelle membrane central nervous system myelin maintenance peripheral nervous system myelin maintenance regulation of cell proliferation regulation of hair cycle intracellular membrane-bounded organelle plasma membrane raft organization ceramide biosynthetic process metal ion binding oxidation-reduction process establishment of skin barrier fatty acid alpha-hydroxylase activity  uc002fde.1 uc002fde.2 uc002fde.3 uc002fde.4 
ENST00000219400.8 CMC2 ENST00000219400.8 Homo sapiens C-X9-C motif containing 2 (CMC2), transcript variant 10, non-coding RNA. (from RefSeq NR_147842) C16orf61 COXM2_HUMAN D3DUK6 DC13 ENST00000219400.1 ENST00000219400.2 ENST00000219400.3 ENST00000219400.4 ENST00000219400.5 ENST00000219400.6 ENST00000219400.7 NR_147842 Q9NRP2 uc002ffu.1 uc002ffu.2 uc002ffu.3 uc002ffu.4 uc002ffu.5 May be involved in cytochrome c oxidase biogenesis (By similarity). Mitochondrion. Belongs to the CMC family. mitochondrion  uc002ffu.1 uc002ffu.2 uc002ffu.3 uc002ffu.4 uc002ffu.5 
ENST00000219406.11 PDIA2 ENST00000219406.11 Homo sapiens protein disulfide isomerase family A member 2 (PDIA2), mRNA. (from RefSeq NM_006849) A6ZJ64 B4DI27 ENST00000219406.1 ENST00000219406.10 ENST00000219406.2 ENST00000219406.3 ENST00000219406.4 ENST00000219406.5 ENST00000219406.6 ENST00000219406.7 ENST00000219406.8 ENST00000219406.9 NM_006849 PDIA2_HUMAN PDIP Q13087 Q2WGM4 Q4TT67 Q6B010 Q96KJ6 Q9BW95 uc002cgo.1 uc002cgo.2 uc002cgo.3 This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.571219.1, SRR7410570.571220.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219406.11/ ENSP00000219406.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as an intracellular estrogen-binding protein. May be involved in modulating cellular levels and biological functions of estrogens in the pancreas. May act as a chaperone that inhibits aggregation of misfolded proteins. Catalyzes the rearrangement of -S-S- bonds in proteins. Monomer; predominantly as monomer under reducing conditions. Homodimer; disulfide-linked. Part of a large chaperone multiprotein complex comprising DNAJB11, HSP90B1, HSPA5, HYOU, PDIA2, PDIA4, PDIA6, PPIB, SDF2L1, UGT1A1 and very small amounts of ERP29, but not, or at very low levels, CALR nor CANX. P16333:NCK1; NbExp=3; IntAct=EBI-1752525, EBI-389883; Endoplasmic reticulum lumen (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13087-1; Sequence=Displayed; Name=2; IsoId=Q13087-2; Sequence=VSP_039292; Highly expressed in pancreas (at protein level). The disulfide-linked homodimer exhibits an enhanced chaperone activity. Glycosylated. Belongs to the protein disulfide isomerase family. Contains 2 thioredoxin domains. Sequence=AAC50401.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAH75029.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAG58339.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein disulfide isomerase activity steroid binding protein binding endoplasmic reticulum endoplasmic reticulum lumen protein folding protein retention in ER lumen lipid binding disulfide oxidoreductase activity peptide disulfide oxidoreductase activity isomerase activity protein folding in endoplasmic reticulum response to endoplasmic reticulum stress cell redox homeostasis oxidation-reduction process  uc002cgo.1 uc002cgo.2 uc002cgo.3 
ENST00000219409.8 ARHGDIG ENST00000219409.8 Homo sapiens Rho GDP dissociation inhibitor gamma (ARHGDIG), mRNA. (from RefSeq NM_001176) ENST00000219409.1 ENST00000219409.2 ENST00000219409.3 ENST00000219409.4 ENST00000219409.5 ENST00000219409.6 ENST00000219409.7 GDIR3_HUMAN NM_001176 Q4TT69 Q96S29 Q99819 uc002cgm.1 uc002cgm.2 uc002cgm.3 The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]. ##Evidence-Data-START## Transcript exon combination :: AB593111.1, ERR279844.8487.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219409.8/ ENSP00000219409.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post- translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP. Cytoplasm. Primarily expressed in pancreas and brain. Belongs to the Rho GDI family. blastocyst hatching GDP-dissociation inhibitor activity Rho GDP-dissociation inhibitor activity GTPase activator activity protein binding cytoplasm cytosol plasma membrane negative regulation of cell adhesion Rho protein signal transduction membrane GTPase regulator activity cytoplasmic vesicle regulation of protein localization positive regulation of GTPase activity Rac GTPase binding regulation of catalytic activity regulation of small GTPase mediated signal transduction  uc002cgm.1 uc002cgm.2 uc002cgm.3 
ENST00000219431.4 MPG ENST00000219431.4 Homo sapiens N-methylpurine DNA glycosylase (MPG), transcript variant 1, mRNA. (from RefSeq NM_002434) ENST00000219431.1 ENST00000219431.2 ENST00000219431.3 NM_002434 Q1W6H1 Q1W6H1_HUMAN hCG_22412 uc002cfn.1 uc002cfn.2 uc002cfn.3 uc002cfn.4 uc002cfn.5 DNA binding catalytic activity alkylbase DNA N-glycosylase activity base-excision repair  uc002cfn.1 uc002cfn.2 uc002cfn.3 uc002cfn.4 uc002cfn.5 
ENST00000219439.9 HSDL1 ENST00000219439.9 Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA. (from RefSeq NM_031463) B4DSL2 D3DUL4 ENST00000219439.1 ENST00000219439.2 ENST00000219439.3 ENST00000219439.4 ENST00000219439.5 ENST00000219439.6 ENST00000219439.7 ENST00000219439.8 HSDL1_HUMAN NM_031463 Q3SXM4 Q3SXM5 Q8NC98 Q9BY22 uc002fhk.1 uc002fhk.2 uc002fhk.3 uc002fhk.4 Interacts with STYXL1. Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3SXM5-1; Sequence=Displayed; Name=2; IsoId=Q3SXM5-2; Sequence=VSP_042823; Note=No experimental confirmation available; Highly expressed in testis and ovary. Also detected in thyroid, spinal cord, adrenal gland, heart, placenta, skeletal muscle, small intestine, colon, spleen, prostate and pancreas. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. Although related to the SDR family, lacks the conserved active Tyr residue in position 218 which is replaced by a Phe, suggesting that it may lack oxidoreductase activity. Sequence=AAK15047.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAK16927.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding mitochondrion oxidation-reduction process steroid dehydrogenase activity  uc002fhk.1 uc002fhk.2 uc002fhk.3 uc002fhk.4 
ENST00000219454.10 WFDC1 ENST00000219454.10 Homo sapiens WAP four-disulfide core domain 1 (WFDC1), transcript variant 1, mRNA. (from RefSeq NM_021197) D3DUL7 ENST00000219454.1 ENST00000219454.2 ENST00000219454.3 ENST00000219454.4 ENST00000219454.5 ENST00000219454.6 ENST00000219454.7 ENST00000219454.8 ENST00000219454.9 NM_021197 PS20 Q8NC27 Q9HAU1 Q9HC57 WFDC1_HUMAN uc002fhw.1 uc002fhw.2 uc002fhw.3 uc002fhw.4 uc002fhw.5 uc002fhw.6 This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Has growth inhibitory activity (By similarity). Secreted (Potential). Contains 1 WAP domain. Sequence=AAG15263.1; Type=Frameshift; Positions=166, 173; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WFDC1ID424.html"; regulation of cell growth molecular_function serine-type endopeptidase inhibitor activity extracellular region extracellular space negative regulation of peptidase activity negative regulation of endopeptidase activity negative regulation of cell growth peptidase inhibitor activity response to estradiol response to drug negative regulation of epithelial cell proliferation negative regulation of inflammatory response negative regulation of wound healing  uc002fhw.1 uc002fhw.2 uc002fhw.3 uc002fhw.4 uc002fhw.5 uc002fhw.6 
ENST00000219473.12 USP10 ENST00000219473.12 Homo sapiens ubiquitin specific peptidase 10 (USP10), transcript variant 2, mRNA. (from RefSeq NM_005153) B2RDJ8 B4DS84 ENST00000219473.1 ENST00000219473.10 ENST00000219473.11 ENST00000219473.2 ENST00000219473.3 ENST00000219473.4 ENST00000219473.5 ENST00000219473.6 ENST00000219473.7 ENST00000219473.8 ENST00000219473.9 KIAA0190 NM_005153 Q14694 Q9BWG7 Q9NSL7 UBP10_HUMAN uc002fii.1 uc002fii.2 uc002fii.3 uc002fii.4 uc002fii.5 Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]. Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability: in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels: mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34- containing complexes. In turn, PIK3C3/VPS34-containing complexes regulate USP10 stability, suggesting the existence of a regulatory system by which PIK3C3/VPS34-containing complexes regulate p53/TP53 protein levels via USP10 and USP13. Does not deubiquitinate MDM2. Deubiquitinates CFTR in early endosomes, enhancing its endocytic recycling. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Specifically inhibited by spautin-1 (specific and potent autophagy inhibitor-1), a derivative of MBCQ that binds to USP10 and inhibits deubiquitinase activity. Regulated by PIK3C3/VPS34-containing complexes. Interacts with G3BP, which may regulate its function. Interacts with p53/TP53, SNX3 and CFTR. Cytoplasm. Nucleus. Early endosome. Note=Cytoplasmic in normal conditions. After DNA damage, translocates to the nucleus following phosphorylation by ATM. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q14694-1; Sequence=Displayed; Name=2; IsoId=Q14694-2; Sequence=VSP_038869; Name=3; IsoId=Q14694-3; Sequence=VSP_038868; Note=No experimental confirmation available; Widely expressed. Following DNA damage. Down-regulated in renal cell carcinomas. Phosphorylated by ATM following DNA damage, leading to stablization and translocation it to the nucleus. Ubiquitinated. Deubiquitinated by USP13. Belongs to the peptidase C19 family. USP10 subfamily. Sequence=CAD97644.1; Type=Erroneous initiation; p53 binding RNA binding cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm cytoplasm endosome early endosome cytosol DNA repair proteolysis ubiquitin-dependent protein catabolic process autophagy cellular response to DNA damage stimulus peptidase activity cysteine-type peptidase activity regulation of autophagy protein deubiquitination hydrolase activity translesion synthesis DNA damage response, signal transduction by p53 class mediator macromolecular complex thiol-dependent ubiquitinyl hydrolase activity negative regulation of I-kappaB kinase/NF-kappaB signaling ion channel binding cellular response to interleukin-1  uc002fii.1 uc002fii.2 uc002fii.3 uc002fii.4 uc002fii.5 
ENST00000219476.9 TSC2 ENST00000219476.9 Homo sapiens TSC complex subunit 2 (TSC2), transcript variant 1, mRNA. (from RefSeq NM_000548) A7E2E2 B4DIQ7 B4DRN2 C9J378 ENST00000219476.1 ENST00000219476.2 ENST00000219476.3 ENST00000219476.4 ENST00000219476.5 ENST00000219476.6 ENST00000219476.7 ENST00000219476.8 NM_000548 O75275 P49815 Q4LE71 Q8TAZ1 TSC2_HUMAN TSC4 uc002con.1 uc002con.2 uc002con.3 uc002con.4 uc002con.5 uc002con.6 Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase- activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors. Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1. May also interact with the adapter molecule RABEP1. The final complex contains TSC2 and RABEP1 linked to RAB5 (Probable). Interacts with HSPA1 and HSPA8. Interacts with DAPK1 and FBXW5. P62136:PPP1CA; NbExp=2; IntAct=EBI-396587, EBI-357253; Q96EB6:SIRT1; NbExp=2; IntAct=EBI-396587, EBI-1802965; Q92574:TSC1; NbExp=7; IntAct=EBI-396587, EBI-1047085; Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=P49815-1; Sequence=Displayed; Name=2; IsoId=P49815-2; Sequence=VSP_004470; Note=No experimental confirmation available; Name=3; IsoId=P49815-3; Sequence=VSP_004471; Note=No experimental confirmation available; Name=4; IsoId=P49815-4; Sequence=VSP_004472; Name=5; IsoId=P49815-5; Sequence=VSP_004471, VSP_004472; Name=6; IsoId=P49815-6; Sequence=VSP_038355, VSP_004470, VSP_004472; Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta. Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 and Thr- 1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads to negatively regulates the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 ability to suppress mTORC1 signaling. Phosphorylated by DAPK1. Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation. Defects in TSC2 are the cause of tuberous sclerosis type 2 (TSC2) [MIM:613254]. TSC2 is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes. Defects in TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. Contains 1 Rap-GAP domain. Sequence=BAE06082.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TSC2ID184.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSC2"; Name=Tuberous sclerosis database Tuberous sclerosis 2 (TSC2); Note=Leiden Open Variation Database (LOVD); URL="http://www.LOVD.nl/TSC2"; neural tube closure GTPase activator activity protein binding nucleus cytoplasm lysosome Golgi apparatus cytosol negative regulation of protein kinase activity protein import into nucleus endocytosis heart development protein localization negative regulation of cell proliferation negative regulation of phosphatidylinositol 3-kinase signaling postsynaptic density membrane viral process vesicle-mediated transport positive regulation of macroautophagy phosphatase binding regulation of endocytosis negative regulation of Wnt signaling pathway small GTPase binding negative regulation of TOR signaling TSC1-TSC2 complex protein homodimerization activity anoikis protein kinase B signaling positive regulation of GTPase activity regulation of insulin receptor signaling pathway negative regulation of insulin receptor signaling pathway insulin-like growth factor receptor signaling pathway perinuclear region of cytoplasm positive chemotaxis regulation of small GTPase mediated signal transduction regulation of cell cycle Hsp90 protein binding negative regulation of protein kinase B signaling negative regulation of macromitophagy  uc002con.1 uc002con.2 uc002con.3 uc002con.4 uc002con.5 uc002con.6 
ENST00000219478.11 ZNF500 ENST00000219478.11 Homo sapiens zinc finger protein 500 (ZNF500), transcript variant 1, mRNA. (from RefSeq NM_021646) A8K6X7 ENST00000219478.1 ENST00000219478.10 ENST00000219478.2 ENST00000219478.3 ENST00000219478.4 ENST00000219478.5 ENST00000219478.6 ENST00000219478.7 ENST00000219478.8 ENST00000219478.9 KIAA0557 NM_021646 O60304 Q0VAL2 Q96CQ8 Q9BTG0 ZKSCAN18 ZN500_HUMAN uc002cxp.1 uc002cxp.2 uc002cxp.3 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 KRAB domain. Contains 1 SCAN box domain. Sequence=BAA25483.1; Type=Erroneous initiation; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated metal ion binding  uc002cxp.1 uc002cxp.2 uc002cxp.3 
ENST00000219479.7 NME4 ENST00000219479.7 Homo sapiens NME/NM23 nucleoside diphosphate kinase 4 (NME4), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005009) ENST00000219479.1 ENST00000219479.2 ENST00000219479.3 ENST00000219479.4 ENST00000219479.5 ENST00000219479.6 NDKM_HUMAN NM23D NM_005009 O00746 Q5U0M9 uc002cgz.1 uc002cgz.2 uc002cgz.3 uc002cgz.4 uc002cgz.5 The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]. Major role in the synthesis of nucleoside triphosphates other than ATP (By similarity). ATP + nucleoside diphosphate = ADP + nucleoside triphosphate. Magnesium (By similarity). Homohexamer. Interacts with CAPN8 (By similarity). Mitochondrion intermembrane space. Widely distributed. Found at very high levels in prostate, heart, liver, small intestine, and skeletal muscle tissues, and in low amounts in the brain and in blood leukocytes. Belongs to the NDK family. nucleotide binding nucleoside diphosphate kinase activity protein binding ATP binding mitochondrion mitochondrial inner membrane mitochondrial intermembrane space mitochondrial matrix purine nucleotide metabolic process nucleoside diphosphate phosphorylation GTP biosynthetic process pyrimidine nucleotide metabolic process UTP biosynthetic process CTP biosynthetic process lipid transport lipid binding nucleoside metabolic process nucleotide metabolic process nucleobase-containing small molecule interconversion membrane kinase activity phosphorylation transferase activity metal ion binding cardiolipin binding  uc002cgz.1 uc002cgz.2 uc002cgz.3 uc002cgz.4 uc002cgz.5 
ENST00000219481.10 DECR2 ENST00000219481.10 Homo sapiens 2,4-dienoyl-CoA reductase 2 (DECR2), mRNA. (from RefSeq NM_020664) DECR2_HUMAN ENST00000219481.1 ENST00000219481.2 ENST00000219481.3 ENST00000219481.4 ENST00000219481.5 ENST00000219481.6 ENST00000219481.7 ENST00000219481.8 ENST00000219481.9 NM_020664 PDCR Q6ZRS7 Q96ET0 Q9NUI1 uc002chb.1 uc002chb.2 uc002chb.3 uc002chb.4 uc002chb.5 Auxiliary enzyme of beta-oxidation. Participates in the degradation of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in peroxisome. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. Has activity towards short and medium chain 2,4-dienoyl-CoAs, but also towards 2,4,7,10,13,16,19- docosaheptaenoyl-CoA, suggesting that it does not constitute a rate limiting step in the peroxisomal degradation of docosahexaenoic acid. Trans-2,3-didehydroacyl-CoA + NADP(+) = trans,trans-2,3,4,5-tetradehydroacyl-CoA + NADPH. Kinetic parameters: KM=59 uM for 2,4-hexadienoyl-CoA; KM=6 uM for 2,4-decadienoyl-CoA; KM=102 uM for 2,4,7,10,13,16,19-docosaheptaenoyl-CoA; Vmax=1.75 umol/min/mg enzyme toward 2,4-Hexadienoyl CoA; Vmax=1.37 umol/min/mg enzyme toward 2,4-Decadienoyl CoA; Monomer, dimer and oligomer. Peroxisome (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NUI1-1; Sequence=Displayed; Name=2; IsoId=Q9NUI1-2; Sequence=VSP_013630, VSP_013631, VSP_013632; Note=No experimental confirmation available; Name=3; IsoId=Q9NUI1-3; Sequence=VSP_013629; Note=No experimental confirmation available; Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily. peroxisome peroxisomal membrane cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process unsaturated fatty acid biosynthetic process 2,4-dienoyl-CoA reductase (NADPH) activity oxidoreductase activity trans-2-enoyl-CoA reductase (NADPH) activity fatty acid beta-oxidation using acyl-CoA oxidase oxidation-reduction process  uc002chb.1 uc002chb.2 uc002chb.3 uc002chb.4 uc002chb.5 
ENST00000219535.7 ANTKMT ENST00000219535.7 Homo sapiens adenine nucleotide translocase lysine methyltransferase (ANTKMT), transcript variant 2, mRNA. (from RefSeq NM_001271285) ENST00000219535.1 ENST00000219535.2 ENST00000219535.3 ENST00000219535.4 ENST00000219535.5 ENST00000219535.6 FAM173A J3KMW5 J3KMW5_HUMAN NM_001271285 uc031quo.1 uc031quo.2 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. membrane integral component of membrane protein-lysine N-methyltransferase activity peptidyl-lysine methylation  uc031quo.1 uc031quo.2 
ENST00000219542.3 METRN ENST00000219542.3 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMW6) BC000662 ENST00000219542.1 ENST00000219542.2 J3KMW6 J3KMW6_HUMAN uc059opt.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. glial cell differentiation positive regulation of axonogenesis  uc059opt.1 
ENST00000219548.9 STUB1 ENST00000219548.9 Homo sapiens STIP1 homology and U-box containing protein 1 (STUB1), transcript variant 1, mRNA. (from RefSeq NM_005861) A2IDB9 CHIP CHIP_HUMAN ENST00000219548.1 ENST00000219548.2 ENST00000219548.3 ENST00000219548.4 ENST00000219548.5 ENST00000219548.6 ENST00000219548.7 ENST00000219548.8 NM_005861 O60526 PP1131 Q969U2 Q9HBT1 Q9UNE7 uc002cit.1 uc002cit.2 uc002cit.3 uc002cit.4 uc002cit.5 This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]. E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90. Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation. Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF- BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome. Mediates polyubiquitination of CYP3A4. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation. Protein modification; protein ubiquitination. Homodimer (By similarity). Interacts with BAG2, and with the E2 ubiquitin conjugating enzymes UBE2D1, UBE2D2 and UBE2D3. Interacts with the C-terminal domains of HSPA8 and HSPA1A. Detected in a ternary complex containing STUB1, HSPA1A and HSPBP1. Interacts with MKKS. Interacts with DYX1C1 and POLB. Interacts (via TPR repeats) with HSP90AA1. Interacts (when monoubiquitinated) with ATXN3. Interacts with UBE2W (By similarity). Interacts (via the U-box domain) with the UBE2V2- UBE2N heterodimer; the complex has a specific 'Lys-63'-linked polyubiquitination activity. Interacts with DNAJB6. Q86WG3:ATCAY; NbExp=4; IntAct=EBI-357085, EBI-1783328; P07900:HSP90AA1; NbExp=9; IntAct=EBI-357085, EBI-296047; P08107:HSPA1B; NbExp=3; IntAct=EBI-357085, EBI-629985; P11142:HSPA8; NbExp=3; IntAct=EBI-357085, EBI-351896; P10636:MAPT; NbExp=2; IntAct=EBI-357085, EBI-366182; P61088:UBE2N; NbExp=3; IntAct=EBI-357085, EBI-1052908; Q7Z7E8:UBE2Q1; NbExp=3; IntAct=EBI-357085, EBI-1783287; P12504:vif (xeno); NbExp=2; IntAct=EBI-357085, EBI-779991; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNE7-1; Sequence=Displayed; Name=2; IsoId=Q9UNE7-2; Sequence=VSP_015947; Note=No experimental confirmation available; Highly expressed in skeletal muscle, heart, pancreas, brain and placenta. Detected in kidney, liver and lung. The TPR domain is essential for ubiquitination mediated by UBE2D1. Phosphorylated upon DNA damage, probably by ATM or ATR. Monoubiquitinated at Lys-2 following cell stress by UBE2W, promoting the interaction with ATXN3 (By similarity). Auto- ubiquitinated; mediated by UBE2D1 and UBE2D2. Antibodies against STUB1 are found in patients with chronic lymphocytic leukemia (CLL) and in colorectal cancer patients. Contains 3 TPR repeats. Contains 1 U-box domain. ubiquitin ligase complex protein polyubiquitination G-protein coupled receptor binding response to ischemia ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm endoplasmic reticulum cytosol DNA repair ubiquitin-dependent protein catabolic process misfolded or incompletely synthesized protein catabolic process cellular response to DNA damage stimulus protein ubiquitination transferase activity enzyme binding kinase binding Z disc ER-associated ubiquitin-dependent protein catabolic process negative regulation of transforming growth factor beta receptor signaling pathway Hsp70 protein binding ubiquitin-dependent SMAD protein catabolic process protein binding, bridging TPR domain binding endoplasmic reticulum unfolded protein response heat shock protein binding ubiquitin conjugating enzyme complex positive regulation of protein ubiquitination ubiquitin protein ligase binding regulation of protein stability regulation of glucocorticoid metabolic process negative regulation of protein binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process ubiquitin-ubiquitin ligase activity cellular response to heat ERBB2 signaling pathway nuclear inclusion body protein homodimerization activity proteasome-mediated ubiquitin-dependent protein catabolic process SMAD binding tau protein binding chaperone binding positive regulation of ubiquitin-protein transferase activity protein maturation misfolded protein binding protein autoubiquitination Hsp90 protein binding ubiquitin protein ligase activity chaperone-mediated autophagy protein K63-linked ubiquitination cellular response to misfolded protein cellular response to hypoxia positive regulation of chaperone-mediated protein complex assembly  uc002cit.1 uc002cit.2 uc002cit.3 uc002cit.4 uc002cit.5 
ENST00000219551.2 RHBDL1 ENST00000219551.2 Homo sapiens rhomboid like 1 (RHBDL1), transcript variant 3, mRNA. (from RefSeq NM_001318733) A2IDC0 A2IDC1 ENST00000219551.1 NM_001318733 O75783 Q0VAX4 Q9NQ85 RHBDL RHBL1_HUMAN uc002cis.1 uc002cis.2 This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. ##Evidence-Data-START## Transcript exon combination :: BC120875.2, ERR3218366.10160.1 [ECO:0000332] ##Evidence-Data-END## May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors (By similarity). Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75783-1; Sequence=Displayed; Name=2; IsoId=O75783-2; Sequence=VSP_005372; Detected in heart, brain, skeletal muscle and kidney. Belongs to the peptidase S54 family. serine-type endopeptidase activity integral component of plasma membrane proteolysis signal transduction peptidase activity serine-type peptidase activity membrane integral component of membrane hydrolase activity  uc002cis.1 uc002cis.2 
ENST00000219596.6 MEFV ENST00000219596.6 Homo sapiens MEFV innate immuity regulator, pyrin (MEFV), transcript variant 1, mRNA. (from RefSeq NM_000243) D3DUC0 ENST00000219596.1 ENST00000219596.2 ENST00000219596.3 ENST00000219596.4 ENST00000219596.5 MEF MEFV_HUMAN NM_000243 O15553 Q3MJ84 Q96PN4 Q96PN5 uc002cun.1 uc002cun.2 This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]. Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization. Interacts with PSTPIP1. Isoform 1: Cytoplasm, cytoskeleton. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles. Isoform 2: Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=FL; IsoId=O15553-2; Sequence=Displayed; Name=2; Synonyms=D2; IsoId=O15553-1; Sequence=VSP_008223; Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leukocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines. First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells. In monocytes, by treatment with colchicine and IFN- alpha, and by the proinflammatory cytokines IFNG/IFN-gamma, TNF and bacterial lipopolysaccharides (LPS). Repressed in monocytes by the antiinflammatory cytokines IL10/interleukin-10, TGFB1 and IL4/interleukin-4. In neutrophils, colchicine, TNF, bacterial lipopolysaccharides (LPS), IL10/interleukin-10, INF-alpha and IL4/interleukin-4 have no effect on expression. IFNG/IFN-gamma increases expression in neutrophils. Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence. Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]. ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness. Contains 1 B box-type zinc finger. Contains 1 B30.2/SPRY domain. Contains 1 DAPIN domain. Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MEFV"; ruffle immune system process actin binding protein binding nucleus cytoplasm autophagosome cytosol cytoskeleton microtubule microtubule associated complex inflammatory response zinc ion binding positive regulation of autophagy lamellipodium cytoplasmic vesicle negative regulation of interleukin-1 beta production negative regulation of interleukin-12 production response to interferon-gamma identical protein binding cell projection innate immune response metal ion binding negative regulation of inflammatory response negative regulation of macrophage inflammatory protein 1 alpha production negative regulation of cytokine production involved in inflammatory response negative regulation of NLRP3 inflammasome complex assembly positive regulation of cysteine-type endopeptidase activity  uc002cun.1 uc002cun.2 
ENST00000219599.8 CRYM ENST00000219599.8 Homo sapiens crystallin mu (CRYM), transcript variant 1, mRNA. (from RefSeq NM_001888) CRYM_HUMAN D5MNX0 ENST00000219599.1 ENST00000219599.2 ENST00000219599.3 ENST00000219599.4 ENST00000219599.5 ENST00000219599.6 ENST00000219599.7 NM_001888 Q14894 Q5HYB7 THBP uc002dim.1 uc002dim.2 uc002dim.3 uc002dim.4 uc002dim.5 Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX648477.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor. Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its nuclear receptors. Thiomorpholine 3-carboxylate + NAD(P)(+) = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H. NAD or NADP. pH dependence: Optimum pH is 4.5; Homodimer. Cytoplasm. Expressed in neural tissue, muscle and kidney. Belongs to the ornithine cyclodeaminase family. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity protein binding nucleus cytoplasm mitochondrion peroxisomal matrix cytosol lysine catabolic process sensory perception of sound oxidoreductase activity thyroid hormone metabolic process hormone binding protein homodimerization activity thiomorpholine-carboxylate dehydrogenase activity NADP binding oxidation-reduction process extracellular exosome thyroid hormone binding thyroid hormone transport  uc002dim.1 uc002dim.2 uc002dim.3 uc002dim.4 uc002dim.5 
ENST00000219611.7 CAPN15 ENST00000219611.7 Homo sapiens calpain 15 (CAPN15), mRNA. (from RefSeq NM_005632) B1B1M4 CAN15_HUMAN ENST00000219611.1 ENST00000219611.2 ENST00000219611.3 ENST00000219611.4 ENST00000219611.5 ENST00000219611.6 NM_005632 O75808 Q2KHS2 Q8WTY9 Q9BUW0 SOLH uc002chi.1 uc002chi.2 uc002chi.3 uc002chi.4 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: U85647.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219611.7/ ENSP00000219611.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75808-1; Sequence=Displayed; Name=2; IsoId=O75808-2; Sequence=VSP_023361, VSP_023362; Note=No experimental confirmation available; Widely expressed with higher expression in brain. Belongs to the peptidase C2 family. Contains 1 calpain catalytic domain. Contains 5 RanBP2-type zinc fingers. calcium-dependent cysteine-type endopeptidase activity cytoplasm proteolysis peptidase activity cysteine-type peptidase activity hydrolase activity metal ion binding  uc002chi.1 uc002chi.2 uc002chi.3 uc002chi.4 
ENST00000219660.6 AQP8 ENST00000219660.6 Homo sapiens aquaporin 8 (AQP8), mRNA. (from RefSeq NM_001169) AQP8_HUMAN ENST00000219660.1 ENST00000219660.2 ENST00000219660.3 ENST00000219660.4 ENST00000219660.5 NM_001169 O94778 Q8IUU3 Q9UIA4 uc002doc.1 uc002doc.2 uc002doc.3 uc002doc.4 uc002doc.5 Aquaporin 8 (AQP8) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 8 mRNA is found in pancreas and colon but not other tissues. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF067797.1, AB013456.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219660.6/ ENSP00000219660.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea. Membrane; Multi-pass membrane protein. Expressed only in pancreas and colon. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Belongs to the MIP/aquaporin (TC 1.A.8) family. mitochondrion plasma membrane integral component of plasma membrane water transport water channel activity channel activity membrane integral component of membrane mitochondrial membrane apical part of cell transmembrane transport cellular response to cAMP  uc002doc.1 uc002doc.2 uc002doc.3 uc002doc.4 uc002doc.5 
ENST00000219689.12 USP31 ENST00000219689.12 May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). (from UniProt Q70CQ4) ENST00000219689.1 ENST00000219689.10 ENST00000219689.11 ENST00000219689.2 ENST00000219689.3 ENST00000219689.4 ENST00000219689.5 ENST00000219689.6 ENST00000219689.7 ENST00000219689.8 ENST00000219689.9 KIAA1203 NR_170599 Q6AW97 Q6ZTC0 Q6ZTN2 Q70CQ4 Q9ULL7 UBP31_HUMAN uc002dll.1 uc002dll.2 uc002dll.3 uc002dll.4 uc002dll.5 May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly- ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q70CQ4-1; Sequence=Displayed; Name=2; IsoId=Q70CQ4-2; Sequence=VSP_020459, VSP_020460, VSP_020461, VSP_020462; Note=No experimental confirmation available; Widely expressed. Belongs to the peptidase C19 family. Sequence=AK126752; Type=Frameshift; Positions=941; thiol-dependent ubiquitin-specific protease activity nucleus proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity  uc002dll.1 uc002dll.2 uc002dll.3 uc002dll.4 uc002dll.5 
ENST00000219700.10 HMOX2 ENST00000219700.10 Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter. (from UniProt P30519) A8MT35 BC002396 D3DUD5 ENST00000219700.1 ENST00000219700.2 ENST00000219700.3 ENST00000219700.4 ENST00000219700.5 ENST00000219700.6 ENST00000219700.7 ENST00000219700.8 ENST00000219700.9 HMOX2_HUMAN HO2 O60605 P30519 uc059qft.1 Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Heme oxygenase 2 could be implicated in the production of carbon monoxide in brain where it could act as a neurotransmitter. Heme + 3 AH(2) + 3 O(2) = biliverdin + Fe(2+) + CO + 3 A + 3 H(2)O. Microsome. Endoplasmic reticulum. Heme oxygenase 2 activity is non-inducible. Belongs to the heme oxygenase family. Contains 2 HRM (heme regulatory motif) repeats. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hmox2/"; response to hypoxia heme oxygenase (decyclizing) activity protein binding endoplasmic reticulum endoplasmic reticulum membrane plasma membrane heme oxidation cellular iron ion homeostasis response to oxidative stress membrane oxidoreductase activity heme binding specific granule membrane heme catabolic process intracellular membrane-bounded organelle neutrophil degranulation metal ion binding iron ion homeostasis oxidation-reduction process  uc059qft.1 
ENST00000219746.14 TOX3 ENST00000219746.14 Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA. (from RefSeq NM_001080430) B4DRD0 B5MCW4 CAGF9 ENST00000219746.1 ENST00000219746.10 ENST00000219746.11 ENST00000219746.12 ENST00000219746.13 ENST00000219746.2 ENST00000219746.3 ENST00000219746.4 ENST00000219746.5 ENST00000219746.6 ENST00000219746.7 ENST00000219746.8 ENST00000219746.9 NM_001080430 O15405 TNRC9 TOX3_HUMAN uc002egw.1 uc002egw.2 uc002egw.3 uc002egw.4 The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]. Transcriptional coactivator of the p300/CBP-mediated trancription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the estrogen-responsive or BCL-2 promoters. Required for depolarization-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the estrogen-responsive C3 promoter region. Homodimer. Interacts with CREB1; the interaction is not depolarization dependent. Interacts with CREBBP (via C-terminus) (By similarity). Interacts (via HGM box) with CITED1 (via C- terminus); the interaction increases estrogen-response element (ERE)-dependent transcription and protection against cell death. Interacts with CREB1 (phosphorylated form). Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O15405-1; Sequence=Displayed; Name=2; IsoId=O15405-2; Sequence=VSP_043095, VSP_043096; Note=No experimental confirmation available; Expressed mainly in epithelial cells. Expressed in the central nervous system (CNS), in the ileum and within the brain in the frontal and occipital lobe. Up-regulated by GPR39 in neuronal cells. the C-terminus is required for calcium responsiveness but not for transactivation activity (By similarity). The N-terminus is absolutely necessary for transactivation activity (By similarity). Contains 1 HMG box DNA-binding domain. RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding chromatin binding protein binding nucleus regulation of transcription from RNA polymerase II promoter apoptotic process estrogen response element binding protein homodimerization activity regulation of apoptotic process negative regulation of neuron apoptotic process positive regulation of transcription, DNA-templated phosphoprotein binding  uc002egw.1 uc002egw.2 uc002egw.3 uc002egw.4 
ENST00000219771.7 QPRT ENST00000219771.7 quinolinate phosphoribosyltransferase (from HGNC QPRT) AK293195 ENST00000219771.1 ENST00000219771.2 ENST00000219771.3 ENST00000219771.4 ENST00000219771.5 ENST00000219771.6 uc010vdu.1 uc010vdu.2 uc010vdu.3  uc010vdu.1 uc010vdu.2 uc010vdu.3 
ENST00000219782.11 MAZ ENST00000219782.11 Homo sapiens MYC associated zinc finger protein (MAZ), transcript variant 2, mRNA. (from RefSeq NM_001042539) A8QJL9 ENST00000219782.1 ENST00000219782.10 ENST00000219782.2 ENST00000219782.3 ENST00000219782.4 ENST00000219782.5 ENST00000219782.6 ENST00000219782.7 ENST00000219782.8 ENST00000219782.9 MAZ_HUMAN NM_001042539 P56270 Q15703 Q99443 ZNF801 uc002dtx.1 uc002dtx.2 uc002dtx.3 uc002dtx.4 uc002dtx.5 uc002dtx.6 May function as a transcription factor with dual roles in transcription initiation and termination. Binds to two sites, ME1a1 and ME1a2, within the MYC promoter having greater affinity for the former. Also binds to multiple G/C-rich sites within the promoter of the Sp1 family of transcription factors. Interacts with BPTF. P43146:DCC; NbExp=4; IntAct=EBI-1809742, EBI-1222919; P70211:Dcc (xeno); NbExp=2; IntAct=EBI-1809742, EBI-1798863; Q91562:dcc (xeno); NbExp=2; IntAct=EBI-1809742, EBI-1809954; Nucleus (Probable). Note=In brains of Alzheimer disease patients, present in a plaque-like structures. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex and midfrontal cortex (at protein level). Contains 6 C2H2-type zinc fingers. Sequence=AAB04121.1; Type=Erroneous initiation; Sequence=BAA12728.1; Type=Erroneous initiation; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding RNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter termination of RNA polymerase II transcription positive regulation of cell proliferation positive regulation of gene expression positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of cell migration positive regulation of transcription, DNA-templated metal ion binding positive regulation of protein kinase B signaling negative regulation of apoptotic signaling pathway  uc002dtx.1 uc002dtx.2 uc002dtx.3 uc002dtx.4 uc002dtx.5 uc002dtx.6 
ENST00000219789.11 CDIPT ENST00000219789.11 Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), transcript variant 1, mRNA. (from RefSeq NM_006319) CDIPT_HUMAN ENST00000219789.1 ENST00000219789.10 ENST00000219789.2 ENST00000219789.3 ENST00000219789.4 ENST00000219789.5 ENST00000219789.6 ENST00000219789.7 ENST00000219789.8 ENST00000219789.9 NM_006319 O14735 PIS PIS1 Q6FGU1 Q6ZN70 uc002dum.1 uc002dum.2 uc002dum.3 uc002dum.4 uc002dum.5 uc002dum.6 Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]. Catalyzes the biosynthesis of phosphatidylinositol (PtdIns) as well as PtdIns:inositol exchange reaction. May thus act to reduce an excessive cellular PtdIns content. The exchange activity is due to the reverse reaction of PtdIns synthase and is dependent on CMP, which is tightly bound to the enzyme. CDP-diacylglycerol + myo-inositol = CMP + phosphatidyl-1D-myo-inositol. Magnesium. Manganese. Inhibited by PtdIns (product inhibition), phosphatidylinositol phosphate, and nucleoside di- and tri- phosphates. pH dependence: Optimum pH is 9.0; Temperature dependence: Optimum temperature is 50 degrees Celsius; Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Golgi apparatus membrane; Multi- pass membrane protein (By similarity). Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O14735-1; Sequence=Displayed; Name=2; IsoId=O14735-2; Sequence=VSP_013618, VSP_013619, VSP_013620; Widely expressed. Higher expression in adult liver and skeletal muscle, slightly lower levels seen in pancreas, kidney, lung, placenta, brain, heart, leukocyte, colon, small intestine, ovary, testis, prostate, thymus and spleen. In fetus, expressed in kidney, liver, lung and brain. Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Golgi membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane lipid metabolic process phosphatidylinositol biosynthetic process phospholipid biosynthetic process membrane integral component of membrane transferase activity phosphotransferase activity, for other substituted phosphate groups diacylglycerol binding manganese ion binding carbohydrate binding alcohol binding CDP-diacylglycerol metabolic process  uc002dum.1 uc002dum.2 uc002dum.3 uc002dum.4 uc002dum.5 uc002dum.6 
ENST00000219794.11 BCKDK ENST00000219794.11 Homo sapiens branched chain keto acid dehydrogenase kinase (BCKDK), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005881) BCKD_HUMAN ENST00000219794.1 ENST00000219794.10 ENST00000219794.2 ENST00000219794.3 ENST00000219794.4 ENST00000219794.5 ENST00000219794.6 ENST00000219794.7 ENST00000219794.8 ENST00000219794.9 NM_005881 O14874 Q6FGL4 Q96IN5 uc002eaw.1 uc002eaw.2 uc002eaw.3 uc002eaw.4 uc002eaw.5 uc002eaw.6 The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex (By similarity). ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] = ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate. Monomer (By similarity). P40763:STAT3; NbExp=2; IntAct=EBI-1046765, EBI-518675; Mitochondrion matrix. Ubiquitous. Autophosphorylated (By similarity). Belongs to the PDK/BCKDK protein kinase family. Contains 1 histidine kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding mitochondrion mitochondrial matrix mitochondrial alpha-ketoglutarate dehydrogenase complex protein phosphorylation cellular amino acid catabolic process branched-chain amino acid catabolic process kinase activity phosphorylation transferase activity transferase activity, transferring phosphorus-containing groups [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity  uc002eaw.1 uc002eaw.2 uc002eaw.3 uc002eaw.4 uc002eaw.5 uc002eaw.6 
ENST00000219797.9 KAT8 ENST00000219797.9 Homo sapiens lysine acetyltransferase 8 (KAT8), transcript variant 1, mRNA. (from RefSeq NM_032188) A8K4Z1 ENST00000219797.1 ENST00000219797.2 ENST00000219797.3 ENST00000219797.4 ENST00000219797.5 ENST00000219797.6 ENST00000219797.7 ENST00000219797.8 G5E9P2 KAT8_HUMAN MOF MYST1 NM_032188 PP7073 Q659G0 Q7LC17 Q8IY59 Q8WYB4 Q8WZ14 Q9H7Z6 Q9HAC5 Q9NR35 uc059tlg.1 uc059tlg.2 This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]. Histone acetyltransferase which may be involved in transcriptional activation. May influence the function of ATM. As part of the MSL complex it is involved in acetylation of nucleosomal histone H4 producing specifically H4K16ac. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. That activity is less specific than the one of the MSL complex. Acetyl-CoA + [histone] = CoA + acetyl- [histone]. Component of a multisubunit histone acetyltransferase complex (MSL) at least composed of the MOF/KAT8, MSL1/hampin, MSL2L1 and MSL3L1. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MOF/KAT8, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with the chromodomain of MORF4L1/MRG15. Interacts with ATM through the chromodomain. Interacts with KANSL1; the interaction is direct. Q03164:MLL; NbExp=3; IntAct=EBI-896414, EBI-591370; Q99496:RNF2; NbExp=2; IntAct=EBI-896414, EBI-722416; Nucleus. Chromosome (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H7Z6-1; Sequence=Displayed; Name=2; IsoId=Q9H7Z6-2; Sequence=VSP_014579; Note=Ref.8 (CAH56416) sequence is in conflict in position: 454:M->I; Autoacetylation at Lys-274 is required for proper function. Belongs to the MYST (SAS/MOZ) family. Contains 1 C2HC-type zinc finger. Contains 1 chromo domain. Sequence=AAL55762.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAL56648.1; Type=Frameshift; Positions=23, 26, 52; histone acetyltransferase complex kinetochore nuclear chromatin histone acetyltransferase activity protein binding nucleus nucleoplasm chromosome chromatin organization regulation of transcription, DNA-templated transcription factor binding regulation of autophagy nuclear matrix acetyltransferase activity histone acetylation transferase activity transferase activity, transferring acyl groups enzyme binding myeloid cell differentiation methylated histone binding histone binding histone H4-K5 acetylation histone H4-K8 acetylation histone H4-K16 acetylation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding histone acetyltransferase activity (H4-K16 specific) MLL1 complex MSL complex histone acetyltransferase activity (H4-K5 specific) histone acetyltransferase activity (H4-K8 specific)  uc059tlg.1 uc059tlg.2 
ENST00000219821.9 TMC5 ENST00000219821.9 Homo sapiens transmembrane channel like 5 (TMC5), transcript variant 3, mRNA. (from RefSeq NM_024780) ENST00000219821.1 ENST00000219821.2 ENST00000219821.3 ENST00000219821.4 ENST00000219821.5 ENST00000219821.6 ENST00000219821.7 ENST00000219821.8 NM_024780 Q68DK8 Q6UXY8 Q8IY20 Q8NHV6 Q9H8I7 TMC5_HUMAN UNQ8238/PRO33604 uc002dge.1 uc002dge.2 uc002dge.3 uc002dge.4 uc002dge.5 May function as ion channels, transporters or modulators of such. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6UXY8-1; Sequence=Displayed; Name=2; IsoId=Q6UXY8-2; Sequence=VSP_026046; Name=3; IsoId=Q6UXY8-3; Sequence=VSP_026044, VSP_026045; Name=4; IsoId=Q6UXY8-4; Sequence=VSP_026043; Note=No experimental confirmation available; Belongs to the TMC family. Sequence=BAB14629.1; Type=Erroneous initiation; Note=Translation N-terminally extended; ion channel activity integral component of plasma membrane ion transport mechanically-gated ion channel activity membrane integral component of membrane ion transmembrane transport transmembrane transport extracellular exosome  uc002dge.1 uc002dge.2 uc002dge.3 uc002dge.4 uc002dge.5 
ENST00000219833.13 SLC6A2 ENST00000219833.13 Homo sapiens solute carrier family 6 member 2 (SLC6A2), transcript variant 1, mRNA. (from RefSeq NM_001172504) B2R707 ENST00000219833.1 ENST00000219833.10 ENST00000219833.11 ENST00000219833.12 ENST00000219833.2 ENST00000219833.3 ENST00000219833.4 ENST00000219833.5 ENST00000219833.6 ENST00000219833.7 ENST00000219833.8 ENST00000219833.9 NAT1 NET1 NM_001172504 P23975 Q96KH8 SC6A2_HUMAN SLC6A5 uc021tio.1 uc021tio.2 This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]. Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. Interacts with PRKCABP. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P23975-1; Sequence=Displayed; Name=2; IsoId=P23975-2; Sequence=VSP_044479; Defects in SLC6A2 are a cause of orthostatic intolerance (OI) [MIM:604715]. OI is a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. This protein is the target of psychomotor stimulants such as amphetamines or cocaine. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A5"; actin binding neurotransmitter:sodium symporter activity dopamine:sodium symporter activity norepinephrine:sodium symporter activity protein binding plasma membrane integral component of plasma membrane neurotransmitter transport chemical synaptic transmission monoamine transmembrane transporter activity cell surface symporter activity monoamine transport norepinephrine transport membrane integral component of membrane neuronal cell body membrane response to drug presynaptic membrane neuron projection alpha-tubulin binding membrane raft metal ion binding response to pain beta-tubulin binding dopamine uptake involved in synaptic transmission norepinephrine uptake transmembrane transport neuron cellular homeostasis neurotransmitter reuptake  uc021tio.1 uc021tio.2 
ENST00000219837.12 KNOP1 ENST00000219837.12 Homo sapiens lysine rich nucleolar protein 1 (KNOP1), transcript variant 12, mRNA. (from RefSeq NM_001348537) C16orf88 CP088_HUMAN ENST00000219837.1 ENST00000219837.10 ENST00000219837.11 ENST00000219837.2 ENST00000219837.3 ENST00000219837.4 ENST00000219837.5 ENST00000219837.6 ENST00000219837.7 ENST00000219837.8 ENST00000219837.9 NM_001348537 O43328 Q1ED39 Q5FWF3 TSG118 uc002dgq.1 uc002dgq.2 uc002dgq.3 uc002dgq.4 uc002dgq.5 The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]. Interacts with ZFP106 (By similarity). Nucleus, nucleolus (By similarity). Sequence=AAC05805.1; Type=Erroneous initiation; Sequence=AAH89430.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; RNA binding nucleus nucleolus  uc002dgq.1 uc002dgq.2 uc002dgq.3 uc002dgq.4 uc002dgq.5 
ENST00000219905.13 MGA ENST00000219905.13 Homo sapiens MAX dimerization protein MGA (MGA), transcript variant 1, mRNA. (from RefSeq NM_001164273) ENST00000219905.1 ENST00000219905.10 ENST00000219905.11 ENST00000219905.12 ENST00000219905.2 ENST00000219905.3 ENST00000219905.4 ENST00000219905.5 ENST00000219905.6 ENST00000219905.7 ENST00000219905.8 ENST00000219905.9 KIAA0518 MAD5 MGAP_HUMAN NM_001164273 Q8IWI9 Q9H8R3 Q9H9N7 Q9UG69 Q9Y4E9 uc010ucy.1 uc010ucy.2 uc010ucy.3 uc010ucy.4 Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerization with MAX. This heterodimerization serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor (By similarity). Interacts with MAX. Requires dimerization with MAX for E- box binding (By similarity). Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IWI9-1; Sequence=Displayed; Name=2; IsoId=Q8IWI9-2; Sequence=VSP_034534, VSP_034535; Note=No experimental confirmation available; Transcription repression is enhanced or dependent on the presence of the T-box DNA-binding domain (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 T-box DNA-binding domain. Sequence=BAB14186.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity negative regulation of G0 to G1 transition MLL1 complex  uc010ucy.1 uc010ucy.2 uc010ucy.3 uc010ucy.4 
ENST00000219919.9 AQP9 ENST00000219919.9 Homo sapiens aquaporin 9 (AQP9), transcript variant 1, mRNA. (from RefSeq NM_020980) AQP9_HUMAN ENST00000219919.1 ENST00000219919.2 ENST00000219919.3 ENST00000219919.4 ENST00000219919.5 ENST00000219919.6 ENST00000219919.7 ENST00000219919.8 NM_020980 O43315 Q9NP32 SSC1 uc002aez.1 uc002aez.2 uc002aez.3 uc002aez.4 The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol. Membrane; Multi-pass membrane protein. Highly expressed in peripheral leukocytes. Also expressed in liver, lung, and spleen. Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Belongs to the MIP/aquaporin (TC 1.A.8) family. amine transmembrane transporter activity purine nucleobase transmembrane transporter activity pyrimidine nucleobase transmembrane transporter activity water transmembrane transporter activity plasma membrane integral component of plasma membrane water transport purine nucleobase transport response to osmotic stress excretion response to organic substance polyol transmembrane transporter activity urea transmembrane transporter activity water channel activity glycerol channel activity urea channel activity channel activity canalicular bile acid transport polyol transport glycerol transport amine transport pyrimidine nucleobase transport membrane integral component of membrane basolateral plasma membrane water homeostasis intracellular membrane-bounded organelle response to mercury ion carboxylic acid transport carboxylic acid transmembrane transporter activity transmembrane transport cellular response to cAMP urea transmembrane transport pyrimidine-containing compound transmembrane transport purine nucleobase transmembrane transport carboxylic acid transmembrane transport  uc002aez.1 uc002aez.2 uc002aez.3 uc002aez.4 
ENST00000220003.14 CSK ENST00000220003.14 Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T- cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. (from UniProt P41240) CSK_HUMAN ENST00000220003.1 ENST00000220003.10 ENST00000220003.11 ENST00000220003.12 ENST00000220003.13 ENST00000220003.2 ENST00000220003.3 ENST00000220003.4 ENST00000220003.5 ENST00000220003.6 ENST00000220003.7 ENST00000220003.8 ENST00000220003.9 NR_170550 P41240 Q2M3N2 Q6FGZ6 uc002ays.1 uc002ays.2 uc002ays.3 uc002ays.4 Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T- cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Homodimer (via SH3-domain). Interacts with PTPN8 (By similarity). Interacts with phosphorylated SIT1, PAG1, LIME1 and TGFB1I1; these interactions serve to recruit CSK to the membrane where it can phosphorylate and inhibit Src-family kinases. Interacts with SRCIN1. Interacts with RHOH. Interacts (via SH2 domain) with SCIMP. P00523:SRC (xeno); NbExp=6; IntAct=EBI-1380630, EBI-848039; Cytoplasm (By similarity). Cell membrane (By similarity). Note=Mainly cytoplasmic, also present in lipid rafts (By similarity). Expressed in lung and macrophages. The architecture of this protein is similar to that of Src-family kinases (SFKs) with one N-terminal SH3 domain, one SH2 domain, and a C-terminal kinase domain. Phosphorylated at Ser-364 by PKA, leading to increased activity. Autophosphorylated. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSK subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/csk/"; nucleotide binding adaptive immune response immune system process protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity protein binding ATP binding cytoplasm cytosol plasma membrane cell-cell junction protein phosphorylation brain development protein C-terminus binding negative regulation of cell proliferation negative regulation of low-density lipoprotein particle clearance membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation protein phosphatase binding T cell costimulation negative regulation of interleukin-6 production negative regulation of kinase activity protein kinase A catalytic subunit binding adherens junction organization identical protein binding negative regulation of Golgi to plasma membrane protein transport positive regulation of MAP kinase activity membrane raft negative regulation of bone resorption protein autophosphorylation metal ion binding oligodendrocyte differentiation negative regulation of phagocytosis T cell receptor signaling pathway regulation of Fc receptor mediated stimulatory signaling pathway extracellular exosome proline-rich region binding negative regulation of ERK1 and ERK2 cascade cellular response to peptide hormone stimulus  uc002ays.1 uc002ays.2 uc002ays.3 uc002ays.4 
ENST00000220058.9 MTFMT ENST00000220058.9 Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_139242) ENST00000220058.1 ENST00000220058.2 ENST00000220058.3 ENST00000220058.4 ENST00000220058.5 ENST00000220058.6 ENST00000220058.7 ENST00000220058.8 FMT FMT1 FMT_HUMAN NM_139242 Q96DP5 uc002aof.1 uc002aof.2 uc002aof.3 uc002aof.4 uc002aof.5 uc002aof.6 The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.186666.1, SRR3476690.992099.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000220058.9/ ENSP00000220058.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity). 10-formyltetrahydrofolate + L-methionyl- tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet). Mitochondrion (By similarity). Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C- terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction. Belongs to the fmt family. Sequence=AAH16630.2; Type=Erroneous initiation; Sequence=AAH33687.1; Type=Erroneous initiation; Sequence=BAB70984.1; Type=Erroneous initiation; catalytic activity methionyl-tRNA formyltransferase activity mitochondrion translation translational initiation biosynthetic process transferase activity hydroxymethyl-, formyl- and related transferase activity conversion of methionyl-tRNA to N-formyl-methionyl-tRNA  uc002aof.1 uc002aof.2 uc002aof.3 uc002aof.4 uc002aof.5 uc002aof.6 
ENST00000220062.9 RASL12 ENST00000220062.9 Homo sapiens RAS like family 12 (RASL12), transcript variant 1, mRNA. (from RefSeq NM_016563) B2RC29 ENST00000220062.1 ENST00000220062.2 ENST00000220062.3 ENST00000220062.4 ENST00000220062.5 ENST00000220062.6 ENST00000220062.7 ENST00000220062.8 NM_016563 Q9NYN1 RASLC_HUMAN RIS uc002aoi.1 uc002aoi.2 uc002aoi.3 Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity calmodulin binding GTP binding plasma membrane signal transduction Ras protein signal transduction membrane GDP binding  uc002aoi.1 uc002aoi.2 uc002aoi.3 
ENST00000220166.10 CTSH ENST00000220166.10 Homo sapiens cathepsin H (CTSH), transcript variant 1, mRNA. (from RefSeq NM_004390) B2RBK0 CATH_HUMAN CPSB ENST00000220166.1 ENST00000220166.2 ENST00000220166.3 ENST00000220166.4 ENST00000220166.5 ENST00000220166.6 ENST00000220166.7 ENST00000220166.8 ENST00000220166.9 NM_004390 P09668 Q96NY6 Q9BUM7 uc021srk.1 uc021srk.2 uc021srk.3 The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. Important for the overall degradation of proteins in lysosomes. Hydrolysis of proteins, acting as an aminopeptidase (notably, cleaving Arg-|-Xaa bonds) as well as an endopeptidase. Composed of a mini chain and a large chain. The large chain may be split into heavy and light chain. All chains are held together by disulfide bonds. Lysosome. Belongs to the peptidase C1 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CTSHID40206ch15q25.html"; metanephros development T cell mediated cytotoxicity adaptive immune response immune response-regulating signaling pathway endopeptidase activity aminopeptidase activity cysteine-type endopeptidase activity serine-type endopeptidase activity protein binding extracellular region extracellular space lysosome cytosol proteolysis apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process peptidase activity cysteine-type peptidase activity positive regulation of cell proliferation cysteine-type endopeptidase activator activity involved in apoptotic process positive regulation of gene expression positive regulation of epithelial cell migration neuropeptide catabolic process bradykinin catabolic process positive regulation of peptidase activity peptidase activator activity involved in apoptotic process hydrolase activity antigen processing and presentation HLA-A specific activating MHC class I receptor activity positive regulation of cell migration zymogen activation protein destabilization response to retinoic acid membrane protein proteolysis secretory granule lumen cytoplasmic ribonucleoprotein granule negative regulation of apoptotic process surfactant homeostasis intracellular membrane-bounded organelle neutrophil degranulation cellular protein metabolic process positive regulation of angiogenesis proteolysis involved in cellular protein catabolic process dichotomous subdivision of terminal units involved in lung branching extracellular exosome thyroid hormone binding ERK1 and ERK2 cascade cellular response to thyroid hormone stimulus alveolar lamellar body multivesicular body lumen tertiary granule lumen ficolin-1-rich granule lumen positive regulation of apoptotic signaling pathway  uc021srk.1 uc021srk.2 uc021srk.3 
ENST00000220244.7 CEMIP ENST00000220244.7 Homo sapiens cell migration inducing hyaluronidase 1 (CEMIP), transcript variant 3, mRNA. (from RefSeq NM_018689) ENST00000220244.1 ENST00000220244.2 ENST00000220244.3 ENST00000220244.4 ENST00000220244.5 ENST00000220244.6 K1199_HUMAN KIAA1199 NM_018689 Q6L9J5 Q8WUJ3 Q9H1K5 Q9NPN9 Q9ULM1 uc002bfw.1 uc002bfw.2 May be involved in hearing. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUJ3-1; Sequence=Displayed; Name=2; IsoId=Q8WUJ3-2; Sequence=VSP_009814, VSP_009815; Note=No experimental confirmation available; Weakly expressed. In ear, it is specifically expressed in inner ear. Expressed in cochlea and vestibule tissues. Belongs to the TMEM2 family. Contains 1 G8 domain. Contains 4 PbH1 repeats. hyalurononglucosaminidase activity protein binding hyaluronic acid binding extracellular region nucleus cytoplasm endoplasmic reticulum plasma membrane clathrin-coated pit sensory perception of sound metabolic process positive regulation of peptidyl-threonine phosphorylation membrane hydrolase activity hydrolase activity, acting on glycosyl bonds hyaluronan biosynthetic process hyaluronan catabolic process positive regulation of cell migration clathrin-coated vesicle membrane clathrin heavy chain binding clathrin-coated endocytic vesicle ER retention sequence binding positive regulation of release of sequestered calcium ion into cytosol positive regulation of protein targeting to membrane positive regulation of protein kinase C activity  uc002bfw.1 uc002bfw.2 
ENST00000220325.9 EHD4 ENST00000220325.9 Homo sapiens EH domain containing 4 (EHD4), mRNA. (from RefSeq NM_139265) EHD4_HUMAN ENST00000220325.1 ENST00000220325.2 ENST00000220325.3 ENST00000220325.4 ENST00000220325.5 ENST00000220325.6 ENST00000220325.7 ENST00000220325.8 FKSG7 HCA10 HCA11 NM_139265 PAST4 Q9H223 Q9HAR1 Q9NZN2 uc001zot.1 uc001zot.2 uc001zot.3 uc001zot.4 uc001zot.5 Plays a role in early endosomal transport. Homooligomer, and heterooligomer with EHD1, EHD2 and EHD3. Early endosome membrane; Peripheral membrane protein. Recycling endosome membrane; Peripheral membrane protein. Highly expressed in pancreas and heart. The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins (By similarity). Contains 1 EF-hand domain. Contains 1 EH domain. nucleotide binding nucleic acid binding calcium ion binding protein binding ATP binding GTP binding nucleus endosome endoplasmic reticulum plasma membrane pinocytosis membrane regulation of endocytosis early endosome membrane endocytic recycling cadherin binding metal ion binding perinuclear region of cytoplasm positive regulation of peptidyl-tyrosine phosphorylation protein homooligomerization recycling endosome membrane extracellular exosome cellular response to growth factor stimulus  uc001zot.1 uc001zot.2 uc001zot.3 uc001zot.4 uc001zot.5 
ENST00000220420.10 TGM5 ENST00000220420.10 Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. (from RefSeq NM_201631) ENST00000220420.1 ENST00000220420.2 ENST00000220420.3 ENST00000220420.4 ENST00000220420.5 ENST00000220420.6 ENST00000220420.7 ENST00000220420.8 ENST00000220420.9 NM_201631 O43548 O43549 Q0VF40 Q9UEZ4 TGM5_HUMAN TGMX uc001zrd.1 uc001zrd.2 uc001zrd.3 This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]. Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. Protein glutamine + alkylamine = protein N(5)- alkylglutamine + NH(3). Binds 1 calcium ion per subunit (By similarity). Cytoplasm. Note=Associated with intermediate filaments. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=O43548-1; Sequence=Displayed; Name=Short; IsoId=O43548-2; Sequence=VSP_006415; Expressed in foreskin keratinocytes. By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells. Defects in TGM5 are a cause of peeling skin syndrome type A (APSS) [MIM:609796]. A non-inflammatory form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In APSS patients, skin peeling is strictly limited to the dorsa of the hands and feet, and it is accompanied by accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. Belongs to the transglutaminase superfamily. Transglutaminase family. protein-glutamine gamma-glutamyltransferase activity cytoplasm plasma membrane cellular protein modification process epidermis development transferase activity transferase activity, transferring acyl groups peptide cross-linking metal ion binding cornification  uc001zrd.1 uc001zrd.2 uc001zrd.3 
ENST00000220429.12 GABPB1 ENST00000220429.12 Homo sapiens GA binding protein transcription factor subunit beta 1 (GABPB1), transcript variant beta-1, mRNA. (from RefSeq NM_005254) A8IE52 E4TF1B ENST00000220429.1 ENST00000220429.10 ENST00000220429.11 ENST00000220429.2 ENST00000220429.3 ENST00000220429.4 ENST00000220429.5 ENST00000220429.6 ENST00000220429.7 ENST00000220429.8 ENST00000220429.9 GABP1_HUMAN GABPB GABPB2 NM_005254 Q06545 Q06547 Q12940 Q12941 Q12942 Q8IYD0 uc001zyb.1 uc001zyb.2 uc001zyb.3 uc001zyb.4 This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcription factor capable of interacting with purine rich repeats (GA repeats). Necessary for the expression of the Adenovirus E4 gene. Heterotetramer of two alpha and two beta subunits. Interacts with HCFC1, causing repression of transcriptional activity. P51610:HCFC1; NbExp=3; IntAct=EBI-618165, EBI-396176; Q96M61:MAGEB18; NbExp=3; IntAct=EBI-618165, EBI-741835; Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GABPB-1, Beta-1; IsoId=Q06547-1; Sequence=Displayed; Name=2; Synonyms=Beta-2; IsoId=Q06547-2; Sequence=VSP_000275; Name=3; Synonyms=GABPB-2, Gamma-1; IsoId=Q06547-3; Sequence=VSP_009337; Name=4; Synonyms=Gamma-2; IsoId=Q06547-4; Sequence=VSP_000275, VSP_009337; Contains 5 ANK repeats. transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter mitochondrion organization cytoplasmic ribonucleoprotein granule transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity  uc001zyb.1 uc001zyb.2 uc001zyb.3 uc001zyb.4 
ENST00000220478.8 SCG3 ENST00000220478.8 Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. (from RefSeq NM_013243) A8K2B0 B3KQP6 B4DK99 ENST00000220478.1 ENST00000220478.2 ENST00000220478.3 ENST00000220478.4 ENST00000220478.5 ENST00000220478.6 ENST00000220478.7 F5H3R8 NM_013243 Q8WXD2 Q96C83 Q96GE8 Q9Y6G7 SCG3_HUMAN UNQ2502/PRO5990 uc002abh.1 uc002abh.2 uc002abh.3 uc002abh.4 uc002abh.5 The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. Interacts with CHGA (By similarity). Cytoplasmic vesicle, secretory vesicle lumen (By similarity). Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein (By similarity). Secreted. Note=Associated with the secretory granule membrane through direct binding to cholesterol-enriched lipid rafts in intragranular conditions (By similarity). Neuroendocrine and endocrine secretory granules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WXD2-1; Sequence=Displayed; Name=2; IsoId=Q8WXD2-2; Sequence=VSP_042876; Note=No experimental confirmation available; Expressed in brain, heart, kidney, liver and skeletal muscle. Polymorphisms in the 5'-flanking region and in intron 1 may have an effect on transcriptional activity and be associated with an increase in subcutaneous, but not visceral, fat area. Hence, may influence the risk of obesity. platelet degranulation RNA binding extracellular region endoplasmic reticulum lumen membrane transport vesicle transport vesicle membrane secretory granule membrane cytoplasmic vesicle protein localization to secretory granule secretory granule lumen post-translational protein modification cellular protein metabolic process  uc002abh.1 uc002abh.2 uc002abh.3 uc002abh.4 uc002abh.5 
ENST00000220496.9 DNAJC17 ENST00000220496.9 Homo sapiens DnaJ heat shock protein family (Hsp40) member C17 (DNAJC17), mRNA. (from RefSeq NM_018163) DJC17_HUMAN ENST00000220496.1 ENST00000220496.2 ENST00000220496.3 ENST00000220496.4 ENST00000220496.5 ENST00000220496.6 ENST00000220496.7 ENST00000220496.8 NM_018163 Q9NVM6 uc001zms.1 uc001zms.2 uc001zms.3 uc001zms.4 Contains 1 J domain. Contains 1 RRM (RNA recognition motif) domain. negative regulation of transcription from RNA polymerase II promoter nucleic acid binding RNA binding nucleus cytoplasm toxin transport  uc001zms.1 uc001zms.2 uc001zms.3 uc001zms.4 
ENST00000220507.5 RHOV ENST00000220507.5 Homo sapiens ras homolog family member V (RHOV), mRNA. (from RefSeq NM_133639) ARHV ENST00000220507.1 ENST00000220507.2 ENST00000220507.3 ENST00000220507.4 NM_133639 Q2KHQ5 Q8TDW6 Q96L33 RHOV_HUMAN WRCH2 uc001znd.1 uc001znd.2 uc001znd.3 uc001znd.4 Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway (By similarity). Magnesium (By similarity). Interacts with PAK2 (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Endosome membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Treatment with TNF activates endosomal but not plasma membrane RHOV (By similarity). Highly expressed in pancreas, placenta, and fetal brain. Belongs to the small GTPase superfamily. Rho family. nucleotide binding GTPase activity protein binding GTP binding cytoplasm endosome cytosol plasma membrane cell cortex endocytosis actin filament organization establishment or maintenance of cell polarity small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape endosome membrane membrane protein kinase binding cell projection assembly actin cytoskeleton organization Cdc42 protein signal transduction regulation of actin cytoskeleton organization cell projection metal ion binding regulation of small GTPase mediated signal transduction  uc001znd.1 uc001znd.2 uc001znd.3 uc001znd.4 
ENST00000220509.10 VPS18 ENST00000220509.10 Homo sapiens VPS18 core subunit of CORVET and HOPS complexes (VPS18), mRNA. (from RefSeq NM_020857) ENST00000220509.1 ENST00000220509.2 ENST00000220509.3 ENST00000220509.4 ENST00000220509.5 ENST00000220509.6 ENST00000220509.7 ENST00000220509.8 ENST00000220509.9 KIAA1475 NM_020857 Q8TCG0 Q96DI3 Q9H268 Q9P253 VPS18_HUMAN uc001zne.1 uc001zne.2 uc001zne.3 uc001zne.4 Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL713725.1, AB040908.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220509.10/ ENSP00000220509.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Interacts with HOOK1 (By similarity). Part of a large heterooligomeric complex together with VPS11, VPS16 and VPS33A. Interacts with STX7. Q7L1V2:MON1B; NbExp=2; IntAct=EBI-1053363, EBI-2655311; Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic, peripheral membrane protein associated with late endosomes/lysosomes. Ubiquitous. Expression was highest in heart and low in lung. Belongs to the VPS18 family. Contains 1 clathrin repeat. Contains 1 RING-type zinc finger. Sequence=AAH01513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites; Sequence=BAA95999.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; actin binding protein binding lysosome lysosomal membrane endosome early endosome late endosome autophagosome actin filament intracellular protein transport vesicle docking involved in exocytosis autophagy endosome organization vacuole organization lysosome organization endosome to lysosome transport protein transport membrane vesicle-mediated transport syntaxin binding AP-3 adaptor complex clathrin-coated vesicle protein binding, bridging HOPS complex cytoplasmic vesicle late endosome membrane CORVET complex regulation of SNARE complex assembly viral entry into host cell metal ion binding presynapse glutamatergic synapse regulation of synaptic vesicle exocytosis  uc001zne.1 uc001zne.2 uc001zne.3 uc001zne.4 
ENST00000220514.8 OIP5 ENST00000220514.8 Homo sapiens Opa interacting protein 5 (OIP5), transcript variant 1, mRNA. (from RefSeq NM_007280) ENST00000220514.1 ENST00000220514.2 ENST00000220514.3 ENST00000220514.4 ENST00000220514.5 ENST00000220514.6 ENST00000220514.7 MIS18B MS18B_HUMAN NM_007280 O43482 Q96BX7 uc001znp.1 uc001znp.2 uc001znp.3 uc001znp.4 The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. Homodimer, and heterodimer with MIS18A. Identified in a complex containing MIS18A, MIS18B, MIS18BP1, RBBP7 and RBBP4. Binds outer membrane protein OpaP from Neisseria gonorrhoeae. P04049:RAF1; NbExp=4; IntAct=EBI-536879, EBI-365996; Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis. Associated with chromatin. Sequence=AAC39561.1; Type=Erroneous initiation; chromosome, centromeric region chromatin protein binding nucleus nucleoplasm chromosome cytosol cell cycle chromosome segregation cell communication chromocenter Cajal body nuclear speck CENP-A containing nucleosome assembly identical protein binding metal ion binding cell division  uc001znp.1 uc001znp.2 uc001znp.3 uc001znp.4 
ENST00000220531.9 BLOC1S6 ENST00000220531.9 Homo sapiens biogenesis of lysosomal organelles complex 1 subunit 6 (BLOC1S6), transcript variant 5, non-coding RNA. (from RefSeq NR_132352) BL1S6_HUMAN ENST00000220531.1 ENST00000220531.2 ENST00000220531.3 ENST00000220531.4 ENST00000220531.5 ENST00000220531.6 ENST00000220531.7 ENST00000220531.8 NR_132352 PA PLDN Q9UL45 uc001zvq.1 uc001zvq.2 uc001zvq.3 uc001zvq.4 uc001zvq.5 uc001zvq.6 The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]. Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Interacts with BLOC1S4 and DTNBP1/BLOC1S7 (By similarity). Homodimer. Component of the biogenesis of lysosome- related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with BLOC1S5, F-actin, SNAP25 isoform 1 and isoform 2, SNAP47 and STX12. Self; NbExp=3; IntAct=EBI-465781, EBI-465781; P78537:BLOC1S1; NbExp=10; IntAct=EBI-465781, EBI-348630; Q6QNY1:BLOC1S2; NbExp=3; IntAct=EBI-465781, EBI-465872; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465781, EBI-465930; Q9NUP1:CNO; NbExp=5; IntAct=EBI-465781, EBI-465852; Q96EV8:DTNBP1; NbExp=6; IntAct=EBI-465781, EBI-465804; Q8TDH9:MUTED; NbExp=2; IntAct=EBI-465781, EBI-465861; O95295:SNAPIN; NbExp=2; IntAct=EBI-465781, EBI-296723; Cytoplasm. Endomembrane system; Peripheral membrane protein. Note=It can exist as a soluble protein as well as a peripheral membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UL45-1; Sequence=Displayed; Name=2; IsoId=Q9UL45-2; Sequence=VSP_009293, VSP_009294; Note=May be due to a competing acceptor splice site; Name=3; IsoId=Q9UL45-3; Sequence=Not described; Note=May be due to exons 2 and 3 skipping. No experimental confirmation available; Widely expressed. Phosphorylated. Defects in BLOC1S6 are the cause of Hermansky-Pudlak syndrome type 9 (HPS9) [MIM:614171]. A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Belongs to the BLOC1S6 family. protein binding cytoplasm cytosol anterograde axonal transport membrane synaptic vesicle docking extrinsic component of membrane syntaxin binding transport vesicle BLOC-1 complex neuron projection development melanosome transport melanosome organization endosome to melanosome transport identical protein binding protein homodimerization activity anterograde synaptic vesicle transport positive regulation of pigment cell differentiation actin filament binding presynapse axon cytoplasm SNARE complex  uc001zvq.1 uc001zvq.2 uc001zvq.3 uc001zvq.4 uc001zvq.5 uc001zvq.6 
ENST00000220562.9 EXTL3 ENST00000220562.9 Homo sapiens exostosin like glycosyltransferase 3 (EXTL3), transcript variant 1, mRNA. (from RefSeq NM_001440) D3DST8 ENST00000220562.1 ENST00000220562.2 ENST00000220562.3 ENST00000220562.4 ENST00000220562.5 ENST00000220562.6 ENST00000220562.7 ENST00000220562.8 EXTL1L EXTL3_HUMAN EXTR1 KIAA0519 NM_001440 O00225 O43909 Q53XT3 uc003xgz.1 uc003xgz.2 uc003xgz.3 uc003xgz.4 This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]. Probable glycosyltransferase (By similarity). UDP-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl- (1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl- (1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan. Glycan metabolism; heparan sulfate biosynthesis. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Ubiquitous. Belongs to the glycosyltransferase 47 family. It is uncertain whether Met-1, Met-6 or Met-20 is the initiator. Sequence=BAA25445.2; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Exostosin-like 3; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_531"; glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus protein glycosylation heparan sulfate proteoglycan biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups positive regulation of cell growth IRE1-mediated unfolded protein response metal ion binding  uc003xgz.1 uc003xgz.2 uc003xgz.3 uc003xgz.4 
ENST00000220584.9 FDFT1 ENST00000220584.9 Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1), transcript variant 3, mRNA. (from RefSeq NM_004462) ENST00000220584.1 ENST00000220584.2 ENST00000220584.3 ENST00000220584.4 ENST00000220584.5 ENST00000220584.6 ENST00000220584.7 ENST00000220584.8 NM_004462 Q6IAX1 Q6IAX1_HUMAN hCG_17749 uc003wui.1 uc003wui.2 uc003wui.3 uc003wui.4 uc003wui.5 This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]. farnesyl-diphosphate farnesyltransferase activity endoplasmic reticulum ergosterol biosynthetic process lipid biosynthetic process biosynthetic process integral component of membrane transferase activity transferase activity, transferring alkyl or aryl (other than methyl) groups squalene synthase activity  uc003wui.1 uc003wui.2 uc003wui.3 uc003wui.4 uc003wui.5 
ENST00000220592.10 AGO2 ENST00000220592.10 Homo sapiens argonaute RISC catalytic component 2 (AGO2), transcript variant 1, mRNA. (from RefSeq NM_012154) AGO2_HUMAN EIF2C2 ENST00000220592.1 ENST00000220592.2 ENST00000220592.3 ENST00000220592.4 ENST00000220592.5 ENST00000220592.6 ENST00000220592.7 ENST00000220592.8 ENST00000220592.9 NM_012154 Q8TCZ5 Q8WV58 Q96ID1 Q9UKV8 uc003yvm.1 uc003yvm.2 uc003yvm.3 uc003yvm.4 uc003yvm.5 uc003yvm.6 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The 'minimal RISC' appears to include EIF2C2/AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC- mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due to endonucleolytic cleavage of the mRNA specifically by EIF2C2/AGO2. Binding of RISC to a partially complementary mRNA results in silencing through inhibition of translation, and this is independent of endonuclease activity. May inhibit translation initiation by binding to the 7- methylguanosine cap, thereby preventing the recruitment of the translation initiation factor eIF4-E. May also inhibit translation initiation via interaction with EIF6, which itself binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit. The inhibition of translational initiation leads to the accumulation of the affected mRNA in cytoplasmic processing bodies (P-bodies), where mRNA degradation may subsequently occur. In some cases RISC-mediated translational repression is also observed for miRNAs that perfectly match the 3' untranslated region (3'-UTR). Can also up-regulate the translation of specific mRNAs under certain growth conditions. Binds to the AU element of the 3'-UTR of the TNF (TNF-alpha) mRNA and up-regulates translation under conditions of serum starvation. Also required for transcriptional gene silencing (TGS), in which short RNAs known as antigene RNAs or agRNAs direct the transcriptional repression of complementary promoter regions. Endonucleolytic cleavage to 5'- phosphomonoester. Inhibited by EDTA. Kinetic parameters: KM=1.1 nM for a synthetic 21-nucleotide single-stranded RNA; Interacts with DICER1 through its Piwi domain and with TARBP2 during assembly of the RNA-induced silencing complex (RISC). Together, DICER1, EIF2C2/AGO2 and TARBP2 constitute the trimeric RISC loading complex (RLC), or micro-RNA (miRNA) loading complex (miRLC). Within the RLC/miRLC, DICER1 and TARBP2 are required to process precursor miRNAs (pre-miRNAs) to mature miRNAs and then load them onto EIF2C2/AGO2. EIF2C2/AGO2 bound to the mature miRNA constitutes the minimal RISC and may subsequently dissociate from DICER1 and TARBP2. Note however that the term RISC has also been used to describe the trimeric RLC/miRLC. The formation of RISC complexes containing siRNAs rather than miRNAs appears to occur independently of DICER1. Interacts with EIF2C1/AGO1. Also interacts with DDB1, DDX5, DDX6, DDX20, DHX30, DHX36, DDX47, DHX9, EIF6, ELAVL, FXR1, GEMIN4, HNRNPF, IGF2BP1, ILF3, IMP8, MATR3, MOV10, PABPC1, PRMT5, P4HA1, P4HB, RBM4, SART3, TNRC6A, TNRC6B, UPF1 and YBX1. Interacts with the P-body components DCP1A and XRN1. Associates with polysomes and messenger ribonucleoproteins (mNRPs). Interacts with RBM4; the interaction is modulated under stress-induced conditions, occurs under both cell proliferation and differentiation conditions and in a RNA- and phosphorylation-independent manner. Interacts with LIMD1, WTIP and AJUBA. Interacts with TRIM71. Q96C10:DHX58; NbExp=2; IntAct=EBI-528269, EBI-744193; Q9UPY3:DICER1; NbExp=6; IntAct=EBI-528269, EBI-395506; O15397:IPO8; NbExp=3; IntAct=EBI-528269, EBI-358808; Q9UHD2:TBK1; NbExp=2; IntAct=EBI-528269, EBI-356402; A7MCY6:TBKBP1; NbExp=2; IntAct=EBI-528269, EBI-359969; Cytoplasm, P-body. Nucleus. Note=Translational repression of mRNAs results in their recruitment to P-bodies. Translocation to the nucleus requires IMP8. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UKV8-1; Sequence=Displayed; Name=2; IsoId=Q9UKV8-2; Sequence=VSP_037001; Note=No experimental confirmation available; The Piwi domain may perform RNA cleavage by a mechanism similar to that of RNase H. However, while RNase H utilizes a triad of Asp-Asp-Glu (DDE) for metal ion coordination, this protein appears to utilize a triad of Asp-Asp-His (DDH). Hydroxylated. 4-hydroxylation appears to enhance protein stability but is not required for miRNA-binding or endonuclease activity. Belongs to the argonaute family. Ago subfamily. Contains 1 PAZ domain. Contains 1 Piwi domain. Sequence=AAH07633.1; Type=Erroneous initiation; Sequence=AAL76093.1; Type=Miscellaneous discrepancy; Note=cDNA contains a duplication of an internal sequence at the 5' end; Sequence=BC125214; Type=Frameshift; Positions=450; RNA 7-methylguanosine cap binding P-body RNA polymerase II core binding core promoter binding nucleic acid binding RNA binding double-stranded RNA binding single-stranded RNA binding mRNA binding translation initiation factor activity nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus nucleoplasm cytoplasm cytosol polysome mRNA cap binding complex regulation of transcription, DNA-templated translation translational initiation regulation of translation Wnt signaling pathway, calcium modulating pathway protein C-terminus binding post-embryonic development RNA secondary structure unwinding miRNA metabolic process positive regulation of gene expression negative regulation of gene expression membrane RISC complex hydrolase activity endoribonuclease activity, producing 5'-phosphomonoesters cell junction production of siRNA involved in RNA interference dendrite gene silencing by RNA pre-miRNA processing siRNA loading onto RISC involved in RNA interference posttranscriptional gene silencing by RNA production of miRNAs involved in gene silencing by miRNA siRNA binding miRNA binding miRNA mediated inhibition of translation mRNA cleavage involved in gene silencing by miRNA miRNA loading onto RISC involved in gene silencing by miRNA negative regulation of amyloid precursor protein biosynthetic process positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter negative regulation of translational initiation metal ion binding positive regulation of nuclear-transcribed mRNA poly(A) tail shortening regulation of gene silencing by miRNA extracellular exosome endoribonuclease activity, cleaving siRNA-paired mRNA RISC-loading complex RNA phosphodiester bond hydrolysis, endonucleolytic endoribonuclease activity, cleaving miRNA-paired mRNA mRNA cleavage involved in gene silencing by siRNA mRNA cap binding positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay positive regulation of trophoblast cell migration positive regulation of miRNA mediated inhibition of translation ribonucleoprotein complex  uc003yvm.1 uc003yvm.2 uc003yvm.3 uc003yvm.4 uc003yvm.5 uc003yvm.6 
ENST00000220597.4 PAG1 ENST00000220597.4 Homo sapiens phosphoprotein membrane anchor with glycosphingolipid microdomains 1 (PAG1), mRNA. (from RefSeq NM_018440) A8K1A3 CBP ENST00000220597.1 ENST00000220597.2 ENST00000220597.3 NM_018440 PAG PHAG1_HUMAN Q2M1Z9 Q5BKU4 Q9NWQ8 Q9NYK0 uc003ybz.1 uc003ybz.2 uc003ybz.3 uc003ybz.4 The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK289818.1, SRR1660805.105152.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220597.4/ ENSP00000220597.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Negatively regulates TCR (T-cell antigen receptor)- mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling. Interacts with FYN. When phosphorylated, interacts with CSK. Interacts with SLC9A3R1/EBP50. In resting T-cells, part of a PAG1-SLC9A3R1-MSN complex which is disrupted upon TCR activation. Interacts with LYN on plasma membrane lipid rafts. Identified in a complex with LYN and STAT3. Cell membrane; Single-pass type III membrane protein. Note=Present in lipid rafts. Ubiquitously expressed. Present in germinal center B-cells, plasma cells, T-cells, monocytes and platelets (at protein level). Palmitoylated. Phosphorylated by FYN on Tyr-317 in resting T-cells; which promotes interaction with CSK. Dephosphorylated by PTPRC/CD45 upon TCR activation; which leads to CSK dissociation. May also be dephosphorylated by PTPN11. Hyperphosphorylated in mast cells upon FCER1 activation. Phosphorylated by LYN. adaptive immune response immune system process SH3/SH2 adaptor activity protein binding plasma membrane signal transduction positive regulation of signal transduction membrane integral component of membrane intracellular signal transduction SH2 domain binding membrane raft T cell receptor signaling pathway regulation of T cell activation negative regulation of T cell activation  uc003ybz.1 uc003ybz.2 uc003ybz.3 uc003ybz.4 
ENST00000220616.9 TG ENST00000220616.9 Homo sapiens thyroglobulin (TG), mRNA. (from RefSeq NM_003235) ENST00000220616.1 ENST00000220616.2 ENST00000220616.3 ENST00000220616.4 ENST00000220616.5 ENST00000220616.6 ENST00000220616.7 ENST00000220616.8 NM_003235 O15274 O43899 P01266 Q15593 Q15948 Q9NYR1 Q9NYR2 Q9UMZ0 Q9UNY3 THYG_HUMAN uc003ytw.1 uc003ytw.2 uc003ytw.3 uc003ytw.4 uc003ytw.5 Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X05615.1, U93033.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220616.9/ ENSP00000220616.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Precursor of the iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). Homodimer. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Major; IsoId=P01266-1; Sequence=Displayed; Name=2; Synonyms=Minor; IsoId=P01266-2; Sequence=VSP_012655; Thyroid gland specific. Sulfated tyrosines are desulfated during iodination. Defects in TG are the cause of thyroid dyshormonogenesis 3 (TDH3) [MIM:274700]. A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases. Variations in TG are associated with susceptibility to autoimmune thyroid disease type 3 (AITD3) [MIM:608175]. AITDs including Graves disease (GD) and Hashimoto thyroiditis (HT), are among the most common human autoimmune diseases. They are complex diseases, which are caused by an interaction between susceptibility genes and nongenetic factors, such as infection. Belongs to the type-B carboxylesterase/lipase family. Contains 11 thyroglobulin type-1 domains. Name=Wikipedia; Note=Thyroglobulin entry; URL="http://en.wikipedia.org/wiki/Thyroglobulin"; hormone activity extracellular region signal transduction iodide transport thyroid gland development regulation of myelination thyroid hormone metabolic process hormone biosynthetic process  uc003ytw.1 uc003ytw.2 uc003ytw.3 uc003ytw.4 uc003ytw.5 
ENST00000220659.11 BRF2 ENST00000220659.11 Homo sapiens BRF2 RNA polymerase III transcription initiation factor subunit (BRF2), mRNA. (from RefSeq NM_018310) B2RD62 BRF2_HUMAN BRFU D3DSW6 ENST00000220659.1 ENST00000220659.10 ENST00000220659.2 ENST00000220659.3 ENST00000220659.4 ENST00000220659.5 ENST00000220659.6 ENST00000220659.7 ENST00000220659.8 ENST00000220659.9 NM_018310 PRO1470 Q9H2Y3 Q9H3B3 Q9HAW0 Q9NUY6 uc003xkk.1 uc003xkk.2 uc003xkk.3 uc003xkk.4 uc003xkk.5 This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.427703.1, DRR138522.14564.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220659.11/ ENSP00000220659.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## General activator of RNA polymerase III transcription. Factor exclusively required for RNA polymerase III transcription of genes with promoter elements upstream of the initiation sites. Binds 1 zinc ion per subunit (By similarity). Component of TFIIIB complex. The TFIIIB complex has two activities, alpha and beta. The TFIIIB-alpha activity complex is composed of TBP, BDP1, and a complex containing both BRF2 and at least four stably associated proteins; this complex inhibits the transcription by pol III via its phosphorylation by CK2; YY1 facilitates the TFIIIB-alpha complex formation. BRF2 recruitment to the TATA box containing small nuclear RNA (snRNA) gene templates is TBP-dependent. Interacts with TBP; this interaction with TBP mediates its TATA-box recruitment of these promoters. Interacts with TBP and the BURE sequence (GC-rich sequence downstream from the TATA box) to form a strong ternary complex which is joined by BDP1; this ternary complex stimulates pol III transcription. Forms a trimeric complex composed of TBP, BRF2 and mini-SNAPc complex (SNAP43, SNAP50, and the N-terminal third of SNAP190) on the promoter. Assembly of the TBP-BRF2 complex is stimulated by SNAP190. Interacts with MAF1 and SNAPC4. Nucleus. Down-regulated by epigallocatechin gallate (EGCG) treatment. Belongs to the TFIIB family. Contains 1 TFIIB-type zinc finger. Sequence=AAG35486.1; Type=Erroneous initiation; transcription factor TFIIIB complex RNA polymerase III type 3 promoter sequence-specific DNA binding RNA polymerase III type 3 promoter DNA binding nucleus nucleoplasm DNA-templated transcription, initiation regulation of transcription, DNA-templated regulation of transcription from RNA polymerase III promoter transcription factor binding cellular response to oxidative stress metal ion binding DNA-templated transcriptional preinitiation complex assembly RNA polymerase III transcriptional preinitiation complex assembly  uc003xkk.1 uc003xkk.2 uc003xkk.3 uc003xkk.4 uc003xkk.5 
ENST00000220669.10 ZFAND1 ENST00000220669.10 Homo sapiens zinc finger AN1-type containing 1 (ZFAND1), transcript variant 1, mRNA. (from RefSeq NM_024699) ENST00000220669.1 ENST00000220669.2 ENST00000220669.3 ENST00000220669.4 ENST00000220669.5 ENST00000220669.6 ENST00000220669.7 ENST00000220669.8 ENST00000220669.9 NM_024699 Q658R7 Q6IA32 Q6PGQ6 Q8TCF1 Q9H810 ZFAN1_HUMAN uc003ycj.1 uc003ycj.2 uc003ycj.3 uc003ycj.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TCF1-1; Sequence=Displayed; Name=2; IsoId=Q8TCF1-2; Sequence=VSP_014988; Note=No experimental confirmation available; Contains 2 AN1-type zinc fingers. protein binding cytoplasm zinc ion binding cytoplasmic stress granule stress granule disassembly metal ion binding proteasome binding positive regulation of intracellular protein transport cellular response to arsenite ion cellular response to oxidative stress cellular response to heat cellular response to osmotic stress  uc003ycj.1 uc003ycj.2 uc003ycj.3 uc003ycj.4 
ENST00000220676.2 RP1 ENST00000220676.2 Homo sapiens RP1 axonemal microtubule associated (RP1), transcript variant 1, mRNA. (from RefSeq NM_006269) ENST00000220676.1 NM_006269 ORP1 P56715 RP1_HUMAN uc003xsd.1 uc003xsd.2 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF141021.1, AF146592.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2144333 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220676.2/ ENSP00000220676.1 RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1 (By similarity). Interacts with MAK (By similarity). Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell projection, cilium, photoreceptor outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors. Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas. The doublecortin domains, which mediate interaction with microtubules, are required for regulation of microtubule polymerization and function in photoreceptor differentiation (By similarity). Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous state. Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) [MIM:180100]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Contains 2 doublecortin domains. Name=RetNet; Note=Retinal information network; URL="https://sph.uth.tmc.edu/retnet/"; Name=Mutations of the RP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rp1mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP1"; photoreceptor outer segment photoreceptor inner segment protein binding cytoplasm cytoskeleton microtubule microtubule associated complex cilium axoneme visual perception phototransduction, visible light microtubule binding cell projection organization photoreceptor connecting cilium axoneme assembly intracellular signal transduction photoreceptor cell outer segment organization photoreceptor cell development cell projection photoreceptor cell maintenance retinal rod cell development retinal cone cell development response to stimulus retina development in camera-type eye retina morphogenesis in camera-type eye cellular response to light stimulus ciliary tip photoreceptor cell cilium positive regulation of non-motile cilium assembly  uc003xsd.1 uc003xsd.2 
ENST00000220751.5 RIPK2 ENST00000220751.5 Homo sapiens receptor interacting serine/threonine kinase 2 (RIPK2), transcript variant 1, mRNA. (from RefSeq NM_003821) CARDIAK ENST00000220751.1 ENST00000220751.2 ENST00000220751.3 ENST00000220751.4 NM_003821 O43353 Q6UWF0 RICK RIP2 RIPK2_HUMAN UNQ277/PRO314/PRO34092 uc003yee.1 uc003yee.2 uc003yee.3 uc003yee.4 uc003yee.5 This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358814.1, SRR1660807.150538.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220751.5/ ENSP00000220751.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Serine/threonine/tyrosine kinase that plays an essential role in modulation of innate and adaptive immune responses. Upon stimulation by bacterial peptidoglycans, NOD1 and NOD2 are activated, oligomerize and recruit RIPK2 through CARD-CARD domains. Once recruited, RIPK2 autophosphorylates and undergoes 'Lys-63'-linked polyubiquitination by E3 ubiquitin ligases BIRC2 and BIRC3. The polyubiquitinated protein mediates the recruitment of MAP3K7/TAK1 to IKBKG/NEMO and induces 'Lys-63'-linked polyubiquitination of IKBKG/NEMO and subsequent activation of IKBKB/IKKB. In turn, NF-kappa-B is released from NF-kappa-B inhibitors and translocates into the nucleus where it activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. Plays also a role during engagement of the T-cell receptor (TCR) in promoting BCL10 phosphorylation and subsequent NF-kappa-B activation. ATP + a protein = ADP + a phosphoprotein. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Binds to CFLAR/CLARP and CASP1 via their CARD domains. Binds to BIRC3/c-IAP1 and BIRC2/c-IAP2, TRAF1, TRAF2, TRAF5 and TRAF6. May be a component of both the TNFRSF1A and TNRFSF5/CD40 receptor complex. Interacts with NOD1 and NOD2. Interacts with MAP3K4; this interaction sequesters RIPK2 from the NOD2 signaling pathway. Interacts with IKBKG/NEMO. The polyubiquitinated protein interacts with MAP3K7/TAK1. Interacts with XIAP/BIRC4. Q13490:BIRC2; NbExp=3; IntAct=EBI-358522, EBI-514538; Q13489:BIRC3; NbExp=3; IntAct=EBI-358522, EBI-517709; Q7Z434:MAVS; NbExp=3; IntAct=EBI-358522, EBI-995373; Cytoplasm (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43353-1; Sequence=Displayed; Name=2; IsoId=O43353-2; Sequence=VSP_013266; Detected in heart, brain, placenta, lung, peripheral blood leukocytes, spleen, kidney, testis, prostate, pancreas and lymph node. Contains an N-terminal kinase domain and a C-terminal caspase activation and recruitment domain (CARD) that mediates the recruitment of CARD-containing proteins. Autophosphorylated. Autophosphorylation at Tyr-474 is necessary for effective NOD2 signaling. Phosphorylated upon DNA damage, probably by ATM or ATR. Ubiquitinated on Lys-209; undergoes 'Lys-63'-linked polyubiquitination catalyzed by ITCH. Polyubiquitinated with 'Lys- 48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Contains 1 CARD domain. Contains 1 protein kinase domain. nucleotide binding activation of MAPK activity positive regulation of cytokine-mediated signaling pathway adaptive immune response immune system process positive regulation of T-helper 1 type immune response protein kinase activity protein serine/threonine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytoplasm mitochondrion cytosol cytoskeleton protein phosphorylation apoptotic process inflammatory response signal transduction I-kappaB kinase/NF-kappaB signaling JNK cascade positive regulation of peptidyl-threonine phosphorylation positive regulation of cell death kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation LIM domain binding positive regulation of protein ubiquitination lipopolysaccharide-mediated signaling pathway vesicle positive regulation of protein binding positive regulation of chemokine production positive regulation of interferon-alpha production positive regulation of interferon-beta production positive regulation of interferon-gamma production positive regulation of interleukin-12 production positive regulation of interleukin-2 production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of stress-activated MAPK cascade macromolecular complex positive regulation of immature T cell proliferation positive regulation of peptidyl-serine phosphorylation toll-like receptor 2 signaling pathway toll-like receptor 4 signaling pathway T cell proliferation identical protein binding protein homodimerization activity regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling response to exogenous dsRNA innate immune response positive regulation of T-helper 1 cell differentiation positive regulation of transcription from RNA polymerase II promoter positive regulation of JNK cascade positive regulation of alpha-beta T cell proliferation CARD domain binding positive regulation of interleukin-1 beta secretion positive regulation of peptidyl-tyrosine phosphorylation defense response to Gram-positive bacterium T cell receptor signaling pathway positive regulation of NF-kappaB transcription factor activity positive regulation of ERK1 and ERK2 cascade nucleotide-binding oligomerization domain containing signaling pathway nucleotide-binding oligomerization domain containing 1 signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway interleukin-1-mediated signaling pathway response to interleukin-1 response to interleukin-12 response to interleukin-18 cellular response to lipopolysaccharide cellular response to lipoteichoic acid cellular response to peptidoglycan cellular response to muramyl dipeptide caspase binding activation of cysteine-type endopeptidase activity positive regulation of xenophagy  uc003yee.1 uc003yee.2 uc003yee.3 uc003yee.4 uc003yee.5 
ENST00000220763.10 CPQ ENST00000220763.10 Homo sapiens carboxypeptidase Q (CPQ), mRNA. (from RefSeq NM_016134) B2RD88 CBPQ_HUMAN ENST00000220763.1 ENST00000220763.2 ENST00000220763.3 ENST00000220763.4 ENST00000220763.5 ENST00000220763.6 ENST00000220763.7 ENST00000220763.8 ENST00000220763.9 LCH1 NM_016134 PGCP Q8NBZ1 Q9UNM8 Q9Y5X6 Q9Y646 uc003yhw.1 uc003yhw.2 uc003yhw.3 uc003yhw.4 uc003yhw.5 uc003yhw.6 This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.988663.1, SRR3476690.1004497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220763.10/ ENSP00000220763.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes more efficiently the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in thyroxin hormone liberation from its TG/thyroglobulin precursor. Homodimer. The monomeric form is inactive while the homodimer is active. Endoplasmic reticulum. Golgi apparatus. Lysosome (By similarity). Secreted. Note=Secretion is stimulated by TSH/thyroid-stimulating hormone, INS/insulin and SST/somatostatin (By similarity). Mainly detected in blood plasma. Abundant in placenta and kidney. Present at low level in muscles, liver and skin fibroblasts. Not detected in brain or white blood cells (at protein level). Up-regulated in the majority of hepatitis C virus- associated hepatocellular carcinoma. N-glycosylated. The secreted form is modified by hybrid or complex type oligosaccharide chains (By similarity). Belongs to the peptidase M28 family. Sequence=AAD31418.1; Type=Frameshift; Positions=446; carboxypeptidase activity extracellular region extracellular space cytoplasm lysosome endoplasmic reticulum Golgi apparatus proteolysis thyroid hormone generation peptidase activity metallopeptidase activity hydrolase activity tissue regeneration protein homodimerization activity peptide catabolic process intracellular membrane-bounded organelle metal ion binding extracellular exosome metallodipeptidase activity  uc003yhw.1 uc003yhw.2 uc003yhw.3 uc003yhw.4 uc003yhw.5 uc003yhw.6 
ENST00000220764.7 DECR1 ENST00000220764.7 Homo sapiens 2,4-dienoyl-CoA reductase 1 (DECR1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001359) DECR DECR_HUMAN ENST00000220764.1 ENST00000220764.2 ENST00000220764.3 ENST00000220764.4 ENST00000220764.5 ENST00000220764.6 NM_001359 Q16698 Q2M304 Q93085 uc003yek.1 uc003yek.2 uc003yek.3 This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]. Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3- enoyl-CoA. Trans-2,3-didehydroacyl-CoA + NADP(+) = trans,trans-2,3,4,5-tetradehydroacyl-CoA + NADPH. Kinetic parameters: KM=7.7 uM for NADPH; KM=14.3 uM for trans-2,trans-4-hexadienoyl-CoA; Vmax=30.3 umol/min/mg enzyme; Homotetramer. Mitochondrion. Heart = liver = pancreas > kidney >> skeletal muscle = lung. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2,4-dienoyl-CoA reductase subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DECR1"; nucleus nucleoplasm mitochondrion mitochondrial matrix cytosol lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation 2,4-dienoyl-CoA reductase (NADPH) activity oxidoreductase activity protein homotetramerization oxidation-reduction process NADPH binding  uc003yek.1 uc003yek.2 uc003yek.3 
ENST00000220772.8 SFRP1 ENST00000220772.8 Homo sapiens secreted frizzled related protein 1 (SFRP1), mRNA. (from RefSeq NM_003012) ENST00000220772.1 ENST00000220772.2 ENST00000220772.3 ENST00000220772.4 ENST00000220772.5 ENST00000220772.6 ENST00000220772.7 FRP FRP1 NM_003012 O00546 O14779 Q8N474 SARP2 SFRP1_HUMAN uc003xnt.1 uc003xnt.2 uc003xnt.3 uc003xnt.4 uc003xnt.5 This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC036503.1, AF056087.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267752, SAMN03267761 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220772.8/ ENSP00000220772.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP1 decreases intracellular beta-catenin levels (By similarity). Has antiproliferative effects on vascular cells, in vitro and in vivo, and can induce, in vivo, an angiogenic response. In vascular cell cycle, delays the G1 phase and entry into the S phase (By similarity). In kidney development, inhibits tubule formation and bud growth in metanephroi (By similarity). Inhibits WNT1/WNT4-mediated TCF-dependent transcription. Interacts with WNT1, WNT2 and FRZD6. Interacts with WNT4 and WNT8 (By similarity). Secreted. Note=Cell membrane or extracellular matrix-associated. Released by heparin-binding. Widely expressed. Absent from lung, liver and peripheral blood leukocytes. Highest levels in heart and fetal kidney. Also expressed in testis, ovary, fetal brain and lung, leiomyomal cells, myometrial cells and vascular smooth muscle cells. Expressed in foreskin fibroblasts and in keratinocytes. Down-regulated in colorectal and breast tumors. Up- regulated in uterine leiomyomas under high estrogenic conditions. Expression, in leiomyomal cells, also increased both under hypoxic and serum deprivation conditions. The FZ domain is involved in binding with Wnt ligands (By similarity). Mass=7266.4; Method=MALDI; Range=169-210; Note=Isoform N-glycosylated on Asn-173; Source=PubMed:11741940; May have therapeutic use in cardiac surgery. Belongs to the secreted frizzled-related protein (sFRP) family. Contains 1 FZ (frizzled) domain. Contains 1 NTR domain. osteoblast differentiation ureteric bud development somitogenesis neural tube closure positive regulation of cell-matrix adhesion hematopoietic progenitor cell differentiation cysteine-type endopeptidase activity frizzled binding protein binding extracellular region extracellular space cytosol plasma membrane proteolysis multicellular organism development drug binding heparin binding positive regulation of cell proliferation negative regulation of cell proliferation male gonad development female gonad development cellular response to starvation dorsal/ventral axis specification anterior/posterior pattern specification cell surface regulation of cell cycle process negative regulation of gene expression negative regulation of epithelial to mesenchymal transition regulation of neuron projection development neural crest cell fate commitment response to organic cyclic compound Wnt signaling pathway Wnt-protein binding neural tube development hemopoiesis cell differentiation positive regulation of Wnt signaling pathway negative regulation of Wnt signaling pathway negative regulation of ossification positive regulation of cell growth negative regulation of cell growth negative regulation of cell migration negative regulation of BMP signaling pathway negative regulation of osteoblast proliferation somatic stem cell population maintenance non-canonical Wnt signaling pathway response to drug identical protein binding positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of JUN kinase activity positive regulation of GTPase activity cellular response to fibroblast growth factor stimulus stromal-epithelial cell signaling involved in prostate gland development negative regulation of B cell differentiation positive regulation of fat cell differentiation negative regulation of osteoblast differentiation negative regulation of osteoclast differentiation regulation of angiogenesis positive regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated development of primary male sexual characteristics negative regulation of insulin secretion negative regulation of bone remodeling negative regulation of fibroblast proliferation digestive tract morphogenesis positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation negative regulation of peptidyl-tyrosine phosphorylation positive regulation of stress fiber assembly positive regulation of focal adhesion assembly canonical Wnt signaling pathway Wnt signaling pathway, planar cell polarity pathway hematopoietic stem cell differentiation bone trabecula formation prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis regulation of branching involved in prostate gland morphogenesis negative regulation of androgen receptor signaling pathway extracellular exosome cellular response to vitamin D cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to prostaglandin E stimulus cellular response to estrogen stimulus cellular response to estradiol stimulus cellular response to hypoxia cellular response to X-ray cellular response to heparin dopaminergic neuron differentiation cellular response to transforming growth factor beta stimulus cellular response to BMP stimulus negative regulation of canonical Wnt signaling pathway regulation of establishment of planar polarity planar cell polarity pathway involved in neural tube closure Wnt signaling pathway involved in somitogenesis convergent extension involved in somitogenesis positive regulation of canonical Wnt signaling pathway positive regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of midbrain dopaminergic neuron differentiation negative regulation of planar cell polarity pathway involved in axis elongation positive regulation of non-canonical Wnt signaling pathway negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation negative regulation of fibroblast apoptotic process positive regulation of fibroblast apoptotic process positive regulation of extrinsic apoptotic signaling pathway  uc003xnt.1 uc003xnt.2 uc003xnt.3 uc003xnt.4 uc003xnt.5 
ENST00000220809.9 PLAT ENST00000220809.9 Homo sapiens plasminogen activator, tissue type (PLAT), transcript variant 1, mRNA. (from RefSeq NM_000930) A8K022 B2R8E8 ENST00000220809.1 ENST00000220809.2 ENST00000220809.3 ENST00000220809.4 ENST00000220809.5 ENST00000220809.6 ENST00000220809.7 ENST00000220809.8 NM_000930 P00750 Q15103 Q503B0 Q6PJA5 Q7Z7N2 Q86YK8 Q9BU99 Q9BZW1 TPA_HUMAN uc003xos.1 uc003xos.2 uc003xos.3 uc003xos.4 This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Plays a direct role in facilitating neuronal migration. Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin. Inhibited by SERPINA5. Heterodimer of chain A and chain B held by a disulfide bond. Forms heterodimer with SERPINA5. Binds to fibrin with high affinity. This interaction leads to an increase in the catalytic efficiency of the enzyme between 100-fold and 1000-fold, due to an increase in affinity for plasminogen. Similarly, binding to heparin increases the activation of plasminogen. Binds to annexin A2, cytokeratin-8, fibronectin and laminin. Binds to mannose receptor and the low-density lipoprotein receptor-related protein (LRP1); these proteins are involved in TPA clearance. Yet unidentified interactions on endothelial cells and vascular smooth muscle cells (VSMC) lead to a 100-fold stimulation of plasminogen activation. In addition, binding to VSMC reduces TPA inhibition by PAI-1 by 30-fold. Binds LRP1B; binding is followed by internalization and degradation. Secreted, extracellular space. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Long; IsoId=P00750-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P00750-2; Sequence=VSP_005411, VSP_005412; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=P00750-3; Sequence=VSP_015957; Note=No experimental confirmation available; Name=4; Synonyms=Neonatal; IsoId=P00750-4; Sequence=VSP_028029, VSP_028030; Note=No experimental confirmation available; Synthesized in numerous tissues (including tumors) and secreted into most extracellular body fluids, such as plasma, uterine fluid, saliva, gingival crevicular fluid, tears, seminal fluid, and milk. Both FN1 and one of the kringle domains are required for binding to fibrin. Both FN1 and EGF-like domains are important for binding to LRP1. The FN1 domain mediates binding to annexin A2. The second kringle domain is implicated in binding to cytokeratin-8 and to the endothelial cell surface binding site. The single chain, almost fully active enzyme, can be further processed into a two-chain fully active form by a cleavage after Arg-310 catalyzed by plasmin, tissue kallikrein or factor Xa. Differential cell-specific N-linked glycosylation gives rise to two glycoforms, type I (glycosylated at Asn-219) and type II (not glycosylated at Asn-219). The single chain type I glycoform is less readily converted into the two-chain form by plasmin, and the two-chain type I glycoform has a lower activity than the two- chain type II glycoform in the presence of fibrin. N-glycosylation of Asn-152; the bound oligomannosidic glycan is involved in the interaction with the mannose receptor. Characterization of O-linked glycan was studied in Bowes melanoma cell line. Note=Increased activity of TPA results in increased fibrinolysis of fibrin blood clots that is associated with excessive bleeding. Defective release of TPA results in hypofibrinolysis that can lead to thrombosis or embolism. Available under the names Activase (Genentech) and Retavase (Centocor and Roche) [Retavase is a fragment of TPA that contains kringle 2 and the protease domain; it was also known as BM 06.022]. Used in Acute Myocardial Infarction (AMI), in Acute Ischemic Stroke (AIS) and Pulmonary Embolism (PE) to initiate fibrinolysis. Belongs to the peptidase S1 family. Contains 1 EGF-like domain. Contains 1 fibronectin type-I domain. Contains 2 kringle domains. Contains 1 peptidase S1 domain. Name=Wikipedia; Note=Tissue plasminogen activator entry; URL="http://en.wikipedia.org/wiki/Tissue_plasminogen_Activator"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/plat/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PLAT"; Name=Activase; Note=Clinical information on Activase; URL="http://www.gene.com/gene/products/information/cardiovascular/activase/insert.jsp#pharmacology"; Name=Retavase; Note=Clinical information on Retavase; URL="http://www.retavase.com/pdf/Retavase_PI.pdf"; response to hypoxia serine-type endopeptidase activity receptor binding protein binding extracellular region extracellular space cytoplasm cellular protein modification process proteolysis blood coagulation peptidase activity serine-type peptidase activity cell surface smooth muscle cell migration hydrolase activity secretory granule plasminogen activation fibrinolysis apical part of cell negative regulation of proteolysis platelet-derived growth factor receptor signaling pathway phosphoprotein binding extracellular exosome glutamatergic synapse  uc003xos.1 uc003xos.2 uc003xos.3 uc003xos.4 
ENST00000220812.3 DKK4 ENST00000220812.3 Homo sapiens dickkopf WNT signaling pathway inhibitor 4 (DKK4), mRNA. (from RefSeq NM_014420) DKK4_HUMAN ENST00000220812.1 ENST00000220812.2 NM_014420 Q3KNX0 Q9UBT3 Q9Y4C3 uc003xpb.1 uc003xpb.2 uc003xpb.3 uc003xpb.4 uc003xpb.5 This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CX167283.1, CX163996.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000220812.3/ ENSP00000220812.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero- posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (By similarity). Interacts with LRP5 and LRP6 (By similarity). Secreted. Expressed in cerebellum, T-cells, esophagus and lung. The C-terminal cysteine-rich domain mediates interaction with LRP5 and LRP6 (By similarity). Appears to be not glycosylated. Can be proteolytically processed by a furin-like protease. Belongs to the dickkopf family. molecular_function cellular_component extracellular region extracellular space multicellular organism development Wnt signaling pathway negative regulation of Wnt signaling pathway co-receptor binding receptor antagonist activity negative regulation of hair follicle placode formation negative regulation of canonical Wnt signaling pathway negative regulation of receptor activity  uc003xpb.1 uc003xpb.2 uc003xpb.3 uc003xpb.4 uc003xpb.5 
ENST00000220822.12 GDAP1 ENST00000220822.12 Homo sapiens ganglioside induced differentiation associated protein 1 (GDAP1), transcript variant 1, mRNA. (from RefSeq NM_018972) ENST00000220822.1 ENST00000220822.10 ENST00000220822.11 ENST00000220822.2 ENST00000220822.3 ENST00000220822.4 ENST00000220822.5 ENST00000220822.6 ENST00000220822.7 ENST00000220822.8 ENST00000220822.9 GDAP1_HUMAN NM_018972 Q8TB36 uc003yah.1 uc003yah.2 uc003yah.3 uc003yah.4 uc003yah.5 This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]. Regulates the mitochondrial network by promoting mitochondrial fission. Homodimer. Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TB36-1; Sequence=Displayed; Name=2; IsoId=Q8TB36-2; Sequence=VSP_038393; Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells. Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease type 4A (CMT4A) [MIM:214400]. CMT4A is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Autosomal recessive forms of demyelinating Charcot-Marie- Tooth disease are by convention designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence. Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease axonal recessive with vocal cord paresis (CMT2RV) [MIM:607706]. CMT2RV is a form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease type 2K (CMT2K) [MIM:607831]. CMT2K is an axonal form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive. Defects in GDAP1 are the cause of Charcot-Marie-Tooth disease recessive intermediate type A (CMTRIA) [MIM:608340]. CMTRIA is a form of Charcot-Marie-Tooth disease characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Does not have glutathione transferase activity, although it appears to be structurally related to other cytosolic glutathione S-transferases (GST). Belongs to the GST superfamily. Contains 1 GST C-terminal domain. Contains 1 GST N-terminal domain. Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GDAP1"; mitochondrial fission nucleus cytoplasm mitochondrion mitochondrial outer membrane cytosol protein targeting to mitochondrion mitochondrion organization mitochondrial fusion membrane integral component of membrane integral component of mitochondrial outer membrane response to retinoic acid cellular response to vitamin D  uc003yah.1 uc003yah.2 uc003yah.3 uc003yah.4 uc003yah.5 
ENST00000220847.8 PHF20L1 ENST00000220847.8 Homo sapiens PHD finger protein 20 like 1 (PHF20L1), transcript variant 5, mRNA. (from RefSeq NM_001362971) A0A0A0MQS0 ENST00000220847.1 ENST00000220847.2 ENST00000220847.3 ENST00000220847.4 ENST00000220847.5 ENST00000220847.6 ENST00000220847.7 NM_001362971 uc064qin.1  uc064qin.1 
ENST00000220849.10 EIF3E ENST00000220849.10 Homo sapiens eukaryotic translation initiation factor 3 subunit E (EIF3E), mRNA. (from RefSeq NM_001568) EIF3E_HUMAN EIF3S6 ENST00000220849.1 ENST00000220849.2 ENST00000220849.3 ENST00000220849.4 ENST00000220849.5 ENST00000220849.6 ENST00000220849.7 ENST00000220849.8 ENST00000220849.9 INT6 NM_001568 O43902 P60228 Q64058 Q64059 Q64252 Q6FG33 Q8WVK4 uc003ymu.1 uc003ymu.2 uc003ymu.3 uc003ymu.4 uc003ymu.5 Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. Required for nonsense- mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway. May interact with MCM7 and EPAS1 and regulate the proteasome-mediated degradation of these proteins. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with COPS3, COPS6, COPS7 (COPS7A or COPS7B), EIF4G1, EPAS1, MCM7, NCBP1, PSMC6, TRIM27 and UPF2. Interacts with the HTLV-1 protein Tax-1. Interacts with IFIT1 and IFIT2. Q99814:EPAS1; NbExp=10; IntAct=EBI-347740, EBI-447470; Q9Q2G4:ORF (xeno); NbExp=5; IntAct=EBI-347740, EBI-6248094; P14373:TRIM27; NbExp=7; IntAct=EBI-347740, EBI-719493; Cytoplasm. Nucleus, PML body. Ubiquitously expressed. Expressed at highest levels in appendix, lymph, pancreas, skeletal muscle, spleen and thymus. Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Mass=52131.8; Method=Unknown; Range=1-445; Source=PubMed:17322308; Mass=52133.4; Mass_error=0.2; Method=MALDI; Range=1-445; Source=PubMed:18599441; Belongs to the eIF-3 subunit E family. Contains 1 PCI domain. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay formation of cytoplasmic translation initiation complex cytoplasmic translational initiation RNA binding translation initiation factor activity protein binding nucleus nucleoplasm cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation regulation of translational initiation membrane eukaryotic 43S preinitiation complex nuclear body PML body eukaryotic 48S preinitiation complex cadherin binding positive regulation of translation negative regulation of translational initiation protein N-terminus binding extracellular exosome eukaryotic translation initiation factor 3 complex, eIF3e positive regulation of mRNA binding chromatin  uc003ymu.1 uc003ymu.2 uc003ymu.3 uc003ymu.4 uc003ymu.5 
ENST00000220853.8 EMC2 ENST00000220853.8 Homo sapiens ER membrane protein complex subunit 2 (EMC2), transcript variant 5, non-coding RNA. (from RefSeq NR_138033) EMC2_HUMAN ENST00000220853.1 ENST00000220853.2 ENST00000220853.3 ENST00000220853.4 ENST00000220853.5 ENST00000220853.6 ENST00000220853.7 KIAA0103 NR_138033 Q15006 Q8WUE1 TTC35 uc003ymw.1 uc003ymw.2 uc003ymw.3 Component of the ER membrane protein complex (EMC). Nucleus (By similarity). Cytoplasm. Belongs to the EMC2 family. Contains 3 TPR repeats. protein binding nucleus cytoplasm endoplasmic reticulum ER membrane protein complex  uc003ymw.1 uc003ymw.2 uc003ymw.3 
ENST00000220856.6 CCN4 ENST00000220856.6 Homo sapiens cellular communication network factor 4 (CCN4), transcript variant 2, mRNA. (from RefSeq NM_080838) A8KAG6 ENST00000220856.1 ENST00000220856.2 ENST00000220856.3 ENST00000220856.4 ENST00000220856.5 NM_080838 O95388 Q5JBS8 Q9HCS3 WISP1 WISP1_HUMAN uc003yuc.1 uc003yuc.2 uc003yuc.3 uc003yuc.4 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]. Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan. Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95388-1; Sequence=Displayed; Name=2; Synonyms=WISP1v; IsoId=O95388-2; Sequence=VSP_008008, VSP_008009; Name=3; IsoId=O95388-3; Sequence=VSP_042010; Expressed in heart, kidney, lung, pancreas, placenta, ovary, small intestine and spleen. Isoform 2 is expressed predominantly in scirrhous gastric carcinoma and, weakly in placenta. Overexpression is associated with several cancers including breast cancer and colon tumors. Isoform 2 is overexpressed in scirrhous gastric carcinoma. Belongs to the CCN family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 IGFBP N-terminal domain. Contains 1 TSP type-1 domain. Contains 1 VWFC domain. osteoblast differentiation integrin binding protein binding insulin-like growth factor binding extracellular region extracellular space cytoplasm cytosol cell adhesion signal transduction cell-cell signaling heparin binding positive regulation of smooth muscle cell migration Wnt signaling pathway positive regulation of Wnt signaling pathway osteoclast differentiation extracellular matrix negative regulation of chondrocyte differentiation glucose homeostasis negative regulation of fat cell differentiation positive regulation of osteoblast differentiation positive regulation of smooth muscle cell proliferation regulation of cytokine secretion positive regulation of inflammatory response bone development negative regulation of cell death positive regulation of wound healing  uc003yuc.1 uc003yuc.2 uc003yuc.3 uc003yuc.4 
ENST00000220876.12 STMN2 ENST00000220876.12 Homo sapiens stathmin 2 (STMN2), transcript variant 2, mRNA. (from RefSeq NM_007029) A8K9M2 ENST00000220876.1 ENST00000220876.10 ENST00000220876.11 ENST00000220876.2 ENST00000220876.3 ENST00000220876.4 ENST00000220876.5 ENST00000220876.6 ENST00000220876.7 ENST00000220876.8 ENST00000220876.9 NM_007029 O14952 Q6PK68 Q93045 SCG10 SCGN10 STMN2_HUMAN uc003ybj.1 uc003ybj.2 uc003ybj.3 uc003ybj.4 This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]. Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity). Interacts with MAPK8 (By similarity). Interacts with ITM2C. Q8IYF3:TEX11; NbExp=2; IntAct=EBI-714194, EBI-742397; Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Cell projection, growth cone. Membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Cell projection, axon. Golgi apparatus. Endosome (By similarity). Note=Associated with punctate structures in the perinuclear cytoplasm, axons, and growth cones of developing neurons. SCG10 exists in both soluble and membrane-bound forms (By similarity). Neuron specific. Sumoylated. Phosphorylated mostly by MAPK8, but also by MAPK9 and MAPK10 in the developing brain cortex (By similarity). N-terminal palmitoylation promotes specific anchoring to the cytosolic leaflet of Golgi membranes and subsequent vesicular trafficking along dendrites and axons. Neuronal Stathmins are substrates for palmitoyltransferases ZDHHC3, ZDHHC7 and ZDHHC15. Belongs to the stathmin family. protein binding cytoplasm endosome Golgi apparatus microtubule depolymerization negative regulation of microtubule depolymerization positive regulation of neuron projection development negative regulation of neuron projection development tubulin binding membrane lamellipodium axon growth cone regulation of microtubule polymerization or depolymerization negative regulation of microtubule polymerization positive regulation of microtubule depolymerization neuron projection development vesicle cell projection neuron projection neuronal cell body calcium-dependent protein binding perinuclear region of cytoplasm regulation of cytoskeleton organization cellular response to nerve growth factor stimulus  uc003ybj.1 uc003ybj.2 uc003ybj.3 uc003ybj.4 
ENST00000220888.9 TRPS1 ENST00000220888.9 Homo sapiens transcriptional repressor GATA binding 1 (TRPS1), transcript variant 4, mRNA. (from RefSeq NM_001330599) B4E1Z5 ENST00000220888.1 ENST00000220888.2 ENST00000220888.3 ENST00000220888.4 ENST00000220888.5 ENST00000220888.6 ENST00000220888.7 ENST00000220888.8 NM_001330599 Q08AU2 Q9NWE1 Q9UHF7 Q9UHH6 TRPS1_HUMAN uc003ynz.1 uc003ynz.2 uc003ynz.3 uc003ynz.4 uc003ynz.5 This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2628220.1, SRR7346977.2972817.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes. Interacts with RNF4; regulates TRPS1 repressor activity. Interacts specifically with the activator form of GLI3 (GLI3A) but not with the repressor form (GLI3R). Q9Q2G4:ORF (xeno); NbExp=3; IntAct=EBI-2556151, EBI-6248094; Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UHF7-1; Sequence=Displayed; Name=2; IsoId=Q9UHF7-2; Sequence=VSP_037549; Name=3; IsoId=Q9UHF7-3; Sequence=VSP_037550; Ubiquitously expressed in the adult. Found in fetal brain, lung, kidney, liver, spleen and thymus. More highly expressed in androgen-dependent than in androgen-independent prostate cancer cells. Sumoylated. Sumoylation in the repressor domain inhibits the transcription repression activity. Sumoylation on Lys-1201 is the major site. Appears to be sumoylated on multiple sites. Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 1 (TRPS1) [MIM:190350]. TRPS1 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 3. Typical features include sparse scalp hair, a bulbous tip of the nose, protruding ears, a long flat philtrum and a thin upper vermilion border. Skeletal defects include cone-shaped epiphyses at the phalanges, hip malformations and short stature. Defects in TRPS1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2) [MIM:150230]. A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in TRPS1 are the cause of tricho-rhino-phalangeal syndrome type 3 (TRPS3) [MIM:190351]. TRPS3 is an autosomal dominant disorder characterized by craniofacial and skeletal abnormalities. It is allelic with tricho-rhino-phalangeal type 1. In TRPS3 a more severe brachydactyly and growth retardation are observed. Contains 7 C2H2-type zinc fingers. Contains 1 GATA-type zinc finger. Sequence=AAI25021.1; Type=Erroneous termination; Positions=854; Note=Translated as Gln; Sequence=BAA91441.1; Type=Frameshift; Positions=1276; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TRPS1"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated zinc ion binding protein domain specific binding regulation of chondrocyte differentiation macromolecular complex sequence-specific DNA binding metal ion binding protein heterooligomerization  uc003ynz.1 uc003ynz.2 uc003ynz.3 uc003ynz.4 uc003ynz.5 
ENST00000220913.10 CHRAC1 ENST00000220913.10 Homo sapiens chromatin accessibility complex subunit 1 (CHRAC1), transcript variant 1, mRNA. (from RefSeq NM_017444) CHRAC15 CHRC1_HUMAN ENST00000220913.1 ENST00000220913.2 ENST00000220913.3 ENST00000220913.4 ENST00000220913.5 ENST00000220913.6 ENST00000220913.7 ENST00000220913.8 ENST00000220913.9 NM_017444 Q9NRG0 uc003yvl.1 uc003yvl.2 uc003yvl.3 uc003yvl.4 uc003yvl.5 CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]. Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1. Interacts with POLE3. Together with POLE3, ACF1 and ISWI/SNF2H proteins, it forms the ISWI chromatin-remodeling complex, CHRAC. Nucleus (Potential). Expressed in all tissues tested, including, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. DNA binding transcription factor activity, sequence-specific DNA binding DNA-directed DNA polymerase activity protein binding nucleus chromatin remodeling regulation of transcription, DNA-templated epsilon DNA polymerase complex CHRAC transferase activity nucleotidyltransferase activity protein heterodimerization activity DNA biosynthetic process  uc003yvl.1 uc003yvl.2 uc003yvl.3 uc003yvl.4 uc003yvl.5 
ENST00000220931.11 NCALD ENST00000220931.11 Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA. (from RefSeq NM_032041) ENST00000220931.1 ENST00000220931.10 ENST00000220931.2 ENST00000220931.3 ENST00000220931.4 ENST00000220931.5 ENST00000220931.6 ENST00000220931.7 ENST00000220931.8 ENST00000220931.9 NCALD_HUMAN NM_032041 P29554 P61601 Q8IYC3 Q9H0W2 uc003yke.1 uc003yke.2 uc003yke.3 uc003yke.4 uc003yke.5 This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions. Retina, cerebrum, cerebellum, brain stem, spinal cord, testis, ovary and small intestine. Belongs to the recoverin family. Contains 4 EF-hand domains. regulation of systemic arterial blood pressure actin binding calcium ion binding protein binding intracellular cytosol tubulin binding vesicle-mediated transport calcium-mediated signaling clathrin coat of trans-Golgi network vesicle clathrin binding alpha-tubulin binding metal ion binding  uc003yke.1 uc003yke.2 uc003yke.3 uc003yke.4 uc003yke.5 
ENST00000220940.2 GML ENST00000220940.2 Homo sapiens glycosylphosphatidylinositol anchored molecule like (GML), mRNA. (from RefSeq NM_002066) A0AVF6 ENST00000220940.1 GML_HUMAN LY6DL NM_002066 O00686 O00731 Q99445 uc003yxg.1 uc003yxg.2 uc003yxg.3 uc003yxg.4 May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage. Cell membrane; Lipid-anchor, GPI-anchor (Potential). By p53/TP53. Contains 1 UPAR/Ly6 domain. plasma membrane apoptotic process DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest negative regulation of cell proliferation membrane extrinsic component of membrane anchored component of membrane  uc003yxg.1 uc003yxg.2 uc003yxg.3 uc003yxg.4 
ENST00000220959.8 UBR5 ENST00000220959.8 Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), transcript variant 2, mRNA. (from RefSeq NM_001282873) B2RP24 EDD EDD1 ENST00000220959.1 ENST00000220959.2 ENST00000220959.3 ENST00000220959.4 ENST00000220959.5 ENST00000220959.6 ENST00000220959.7 HYD KIAA0896 NM_001282873 O94970 O95071 Q9NPL3 UBR5_HUMAN uc003yks.1 uc003yks.2 uc003yks.3 This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]. E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'- linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes. Protein modification; protein ubiquitination. Binds TOPBP1. Associates with CDK9 and TFIIS/TCEA1 and forms a transcription regulatory complex made of CDK9, RNAP II, UBR5 and TFIIS/TCEA1 that can stimulate target gene transcription (e.g. gamma fibrinogen/FGG) by recruiting their promoters. Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP proteins (EDVP complex). Interacts directly with DYRK2. Nucleus. Widely expressed. Most abundant in testis and expressed at high levels in brain, pituitary and kidney. Phosphorylated upon DNA damage, probably by ATM or ATR. A cysteine residue is required for ubiquitin- thioester formation. Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain. Contains 1 PABC domain. Contains 1 UBR-type zinc finger. Sequence=BAA74919.3; Type=Erroneous initiation; protein polyubiquitination RNA binding ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytosol DNA repair cellular response to DNA damage stimulus zinc ion binding positive regulation of gene expression membrane viral process protein ubiquitination transferase activity macromolecular complex ubiquitin-ubiquitin ligase activity positive regulation of protein import into nucleus ubiquitin binding metal ion binding perinuclear region of cytoplasm progesterone receptor signaling pathway ubiquitin protein ligase activity protein K48-linked ubiquitination positive regulation of canonical Wnt signaling pathway negative regulation of histone H2A K63-linked ubiquitination negative regulation of double-strand break repair  uc003yks.1 uc003yks.2 uc003yks.3 
ENST00000220966.10 PYCR3 ENST00000220966.10 pyrroline-5-carboxylate reductase 3 (from HGNC PYCR3) A0A0A0MQS1 AK001500 ENST00000220966.1 ENST00000220966.2 ENST00000220966.3 ENST00000220966.4 ENST00000220966.5 ENST00000220966.6 ENST00000220966.7 ENST00000220966.8 ENST00000220966.9 uc003yyy.1 uc003yyy.2 uc003yyy.3  uc003yyy.1 uc003yyy.2 uc003yyy.3 
ENST00000221086.8 MTMR9 ENST00000221086.8 Homo sapiens myotubularin related protein 9 (MTMR9), mRNA. (from RefSeq NM_015458) C8orf9 ENST00000221086.1 ENST00000221086.2 ENST00000221086.3 ENST00000221086.4 ENST00000221086.5 ENST00000221086.6 ENST00000221086.7 MTMR8 MTMR9_HUMAN NM_015458 Q52LU3 Q8WW11 Q96QG6 Q96QG7 Q9NX50 uc003wtm.1 uc003wtm.2 uc003wtm.3 uc003wtm.4 uc003wtm.5 This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ297823.1, BC034990.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221086.8/ ENSP00000221086.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential). Interacts with MTMR6, MTMR7 and MTMR8. Cytoplasm. Expressed in many tissues. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. Contains 1 myotubularin phosphatase domain. protein binding cytoplasm endoplasmic reticulum cytosol plasma membrane phosphatidylinositol biosynthetic process endocytosis negative regulation of autophagy positive regulation of phosphatase activity membrane protein phosphatase binding enzyme regulator activity ruffle membrane macromolecular complex cell projection perinuclear region of cytoplasm protein stabilization regulation of phosphatidylinositol dephosphorylation  uc003wtm.1 uc003wtm.2 uc003wtm.3 uc003wtm.4 uc003wtm.5 
ENST00000221114.8 DCTN6 ENST00000221114.8 Homo sapiens dynactin subunit 6 (DCTN6), mRNA. (from RefSeq NM_006571) B2RAC1 DCTN6_HUMAN ENST00000221114.1 ENST00000221114.2 ENST00000221114.3 ENST00000221114.4 ENST00000221114.5 ENST00000221114.6 ENST00000221114.7 NM_006571 O00399 WS3 uc003xhy.1 uc003xhy.2 uc003xhy.3 uc003xhy.4 uc003xhy.5 The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.517648.1, SRR3476690.1104743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221114.8/ ENSP00000221114.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Member of the pointed-end complex of the dynactin shoulder complex which contains DCTN4, DCTN5 and DCTN6 subunits and ACTR10 (By similarity). Cytoplasm, cytoskeleton (By similarity). Ubiquitous. Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily. chromosome, centromeric region kinetochore condensed chromosome kinetochore chromosome cytoplasm centrosome cytosol cytoskeleton dynactin complex ER to Golgi vesicle-mediated transport antigen processing and presentation of exogenous peptide antigen via MHC class II  uc003xhy.1 uc003xhy.2 uc003xhy.3 uc003xhy.4 uc003xhy.5 
ENST00000221130.11 GSR ENST00000221130.11 Homo sapiens glutathione-disulfide reductase (GSR), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000637) ENST00000221130.1 ENST00000221130.10 ENST00000221130.2 ENST00000221130.3 ENST00000221130.4 ENST00000221130.5 ENST00000221130.6 ENST00000221130.7 ENST00000221130.8 ENST00000221130.9 NM_000637 V9HW90 uc003xih.1 uc003xih.2 uc003xih.3 uc003xih.4 uc003xih.5 This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010].  uc003xih.1 uc003xih.2 uc003xih.3 uc003xih.4 uc003xih.5 
ENST00000221132.8 TNFRSF10A ENST00000221132.8 Homo sapiens TNF receptor superfamily member 10a (TNFRSF10A), mRNA. (from RefSeq NM_003844) A8K5I4 APO2 DR4 ENST00000221132.1 ENST00000221132.2 ENST00000221132.3 ENST00000221132.4 ENST00000221132.5 ENST00000221132.6 ENST00000221132.7 NM_003844 O00220 Q53Y72 Q96E62 TR10A_HUMAN TRAILR1 uc003xda.1 uc003xda.2 uc003xda.3 uc003xda.4 uc003xda.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138524.404726.1, SRR6380201.98557.17 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221132.8/ ENSP00000221132.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF- kappa-B. Can interact with TRADD and RIPK1. Interacts with ARAP1. Q96P48:ARAP1; NbExp=4; IntAct=EBI-518861, EBI-710003; Q14790:CASP8; NbExp=9; IntAct=EBI-518861, EBI-78060; P50591:TNFSF10; NbExp=8; IntAct=EBI-518861, EBI-495373; Membrane; Single-pass type I membrane protein. Widely expressed. High levels are found in spleen, peripheral blood leukocytes, small intestine and thymus, but also in K-562 erythroleukemia cells, MCF-7 breast carcinoma cells and activated T-cells. Contains 1 death domain. Contains 3 TNFR-Cys repeats. protease binding death receptor activity protein binding plasma membrane apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction cell surface receptor signaling pathway activation of NF-kappaB-inducing kinase activity transcription factor binding extrinsic apoptotic signaling pathway via death domain receptors cell surface membrane integral component of membrane TRAIL-activated apoptotic signaling pathway signaling receptor activity regulation of apoptotic process positive regulation of apoptotic process TRAIL binding leukocyte migration cellular response to mechanical stimulus extrinsic apoptotic signaling pathway regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  uc003xda.1 uc003xda.2 uc003xda.3 uc003xda.4 uc003xda.5 
ENST00000221138.9 PPP2CB ENST00000221138.9 Homo sapiens protein phosphatase 2 catalytic subunit beta (PPP2CB), mRNA. (from RefSeq NM_001009552) D3DSV4 ENST00000221138.1 ENST00000221138.2 ENST00000221138.3 ENST00000221138.4 ENST00000221138.5 ENST00000221138.6 ENST00000221138.7 ENST00000221138.8 NM_001009552 P11082 P62714 PP2AB_HUMAN Q6FHK5 uc003xik.1 uc003xik.2 uc003xik.3 uc003xik.4 uc003xik.5 This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.541421.1, SRR1163658.175840.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221138.9/ ENSP00000221138.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. A phosphoprotein + H(2)O = a protein + phosphate. Binds 1 iron ion per subunit (By similarity). Binds 1 manganese ion per subunit (By similarity). Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with TBCD (By similarity). PP2A consists of a common heterodimeric core enzyme (composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65) (subunit A)) that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Binds PPME1. May indirectly interact with SGOL1, most probably through regulatory B56 subunits. P78318:IGBP1; NbExp=3; IntAct=EBI-1044367, EBI-1055954; Cytoplasm. Nucleus. Chromosome, centromere. Cytoplasm, cytoskeleton, spindle pole. Note=In prometaphase cells, but not in anaphase cells, localizes at centromeres. During mitosis, also found at spindle poles. Reversibly methyl esterified on Leu-309. Carboxyl methylation may play a role in holoenzyme assembly. It varies during the cell cycle. Demethylated by PME1 (in vitro). Phosphorylation of either threonine (by autophosphorylation- activated protein kinase) or tyrosine results in inactivation of the phosphatase. Auto-dephosphorylation has been suggested as a mechanism for reactivation. Belongs to the PPP phosphatase family. PP-1 subfamily. protein phosphatase type 2A complex chromosome, centromeric region spindle pole phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding nucleus chromosome cytoplasm cytosol cytoskeleton protein dephosphorylation protein C-terminus binding apoptotic mitochondrial changes response to lead ion regulation of gene expression hydrolase activity response to endoplasmic reticulum stress peptidyl-threonine dephosphorylation response to hydrogen peroxide proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of Ras protein signal transduction response to antibiotic metal ion binding tau protein binding peptidyl-serine dephosphorylation positive regulation of microtubule binding  uc003xik.1 uc003xik.2 uc003xik.3 uc003xik.4 uc003xik.5 
ENST00000221166.10 NEFM ENST00000221166.10 Homo sapiens neurofilament medium (NEFM), transcript variant 1, mRNA. (from RefSeq NM_005382) ENST00000221166.1 ENST00000221166.2 ENST00000221166.3 ENST00000221166.4 ENST00000221166.5 ENST00000221166.6 ENST00000221166.7 ENST00000221166.8 ENST00000221166.9 NEF3 NFM NFM_HUMAN NM_005382 P07197 Q4QRK6 uc003xed.1 uc003xed.2 uc003xed.3 uc003xed.4 uc003xed.5 uc003xed.6 Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. P06400:RB1; NbExp=2; IntAct=EBI-1105035, EBI-491274; Q15796:SMAD2; NbExp=3; IntAct=EBI-1105035, EBI-1040141; There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber. Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function. Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. Belongs to the intermediate filament family. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; structural molecule activity structural constituent of cytoskeleton protein binding intermediate filament neurofilament microtubule binding axon neurofilament bundle assembly intermediate filament cytoskeleton neurofibrillary tangle  uc003xed.1 uc003xed.2 uc003xed.3 uc003xed.4 uc003xed.5 uc003xed.6 
ENST00000221200.9 KCTD9 ENST00000221200.9 Homo sapiens potassium channel tetramerization domain containing 9 (KCTD9), mRNA. (from RefSeq NM_017634) ENST00000221200.1 ENST00000221200.2 ENST00000221200.3 ENST00000221200.4 ENST00000221200.5 ENST00000221200.6 ENST00000221200.7 ENST00000221200.8 KCTD9_HUMAN NM_017634 Q6NUM8 Q7L273 Q9NXV4 uc003xeo.1 uc003xeo.2 uc003xeo.3 uc003xeo.4 uc003xeo.5 Contains 1 BTB (POZ) domain. Contains 1 KHA domain. Contains 3 pentapeptide repeat domains. Sequence=BAA90904.1; Type=Erroneous initiation; protein binding protein ubiquitination intracellular signal transduction identical protein binding protein self-association protein homooligomerization cullin family protein binding  uc003xeo.1 uc003xeo.2 uc003xeo.3 uc003xeo.4 uc003xeo.5 
ENST00000221222.15 HOMER3 ENST00000221222.15 Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. (from UniProt Q9NSC5) BC012113 ENST00000221222.1 ENST00000221222.10 ENST00000221222.11 ENST00000221222.12 ENST00000221222.13 ENST00000221222.14 ENST00000221222.2 ENST00000221222.3 ENST00000221222.4 ENST00000221222.5 ENST00000221222.6 ENST00000221222.7 ENST00000221222.8 ENST00000221222.9 HOME3_HUMAN O14580 O95350 Q9NSB9 Q9NSC0 Q9NSC5 uc060vvl.1 Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Isoform 1 and isoform 2 encode coiled-coil structures that mediate homo- and heteromultimerization. P05067-8:APP; NbExp=3; IntAct=EBI-748420, EBI-302661; P26367:PAX6; NbExp=3; IntAct=EBI-748420, EBI-747278; Cytoplasm (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density of neuronal cells (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=3a; IsoId=Q9NSC5-1; Sequence=Displayed; Name=2; IsoId=Q9NSC5-2; Sequence=VSP_009077; Name=3; Synonyms=3c; IsoId=Q9NSC5-3; Sequence=VSP_009075, VSP_009076; Name=4; Synonyms=3d; IsoId=Q9NSC5-4; Sequence=VSP_009073, VSP_009074; The WH1 domain interacts with the PPXXF motif in GRM1, GRM5, RYR1, RYR2, ITPR1, SHANK 1 and SHANK3. Belongs to the Homer family. Contains 1 WH1 domain. Sequence=AAB81545.1; Type=Erroneous gene model prediction; protein binding cellular_component cytoplasm cytosol plasma membrane protein targeting G-protein coupled glutamate receptor signaling pathway postsynaptic density membrane cell junction dendrite negative regulation of interleukin-2 production G-protein coupled glutamate receptor binding identical protein binding neuron projection synapse postsynaptic membrane negative regulation of calcineurin-NFAT signaling cascade regulation of store-operated calcium entry  uc060vvl.1 
ENST00000221232.11 CNOT3 ENST00000221232.11 Homo sapiens CCR4-NOT transcription complex subunit 3 (CNOT3), mRNA. (from RefSeq NM_014516) CNOT3_HUMAN ENST00000221232.1 ENST00000221232.10 ENST00000221232.2 ENST00000221232.3 ENST00000221232.4 ENST00000221232.5 ENST00000221232.6 ENST00000221232.7 ENST00000221232.8 ENST00000221232.9 KIAA0691 LENG2 NM_014516 NOT3 O75175 Q9NZN7 Q9UF76 uc002qdj.1 uc002qdj.2 uc002qdj.3 uc002qdj.4 uc002qdj.5 The CCR4-NOT complex functions as general transcription regulation complex. Subunit of the CCR4-NOT core complex that contains CHAF1A, CHAF1B, CNOT1, CNOT2, CNOT3, CNOT4, CNOT6 and CNOT8. Binds TIP120B. Interacts with NANOS2 (By similarity). Q96LI5:CNOT6L; NbExp=2; IntAct=EBI-743073, EBI-1046635; P50616:TOB1; NbExp=2; IntAct=EBI-743073, EBI-723281; Cytoplasm (Probable). Nucleus (Probable). Cytoplasm, P-body (By similarity). Note=NANOS2 promotes its localization to P-body (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75175-1; Sequence=Displayed; Name=2; IsoId=O75175-2; Sequence=VSP_009920, VSP_009921; Name=3; IsoId=O75175-3; Sequence=VSP_009919, VSP_009922; Note=No experimental confirmation available; Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine, lung and peripheral blood leukocytes. Belongs to the CNOT2/3/5 family. Sequence=BAA31666.2; Type=Erroneous initiation; nuclear-transcribed mRNA poly(A) tail shortening P-body trophectodermal cell differentiation protein binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated regulation of translation DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest multicellular organism development negative regulation of translation CCR4-NOT complex CCR4-NOT core complex gene silencing by RNA regulation of stem cell population maintenance  uc002qdj.1 uc002qdj.2 uc002qdj.3 uc002qdj.4 uc002qdj.5 
ENST00000221233.9 EXOSC5 ENST00000221233.9 Homo sapiens exosome component 5 (EXOSC5), mRNA. (from RefSeq NM_020158) CML28 ENST00000221233.1 ENST00000221233.2 ENST00000221233.3 ENST00000221233.4 ENST00000221233.5 ENST00000221233.6 ENST00000221233.7 ENST00000221233.8 EXOS5_HUMAN NM_020158 Q32Q81 Q8NG16 Q96I89 Q9NQT4 RRP46 uc002oqo.1 uc002oqo.2 uc002oqo.3 uc002oqo.4 uc002oqo.5 Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Interacts with EXOSC1. Interacts with GTPBP1. Interacts with ZC3HAV1. Interacts with DDX17 only in the presence of ZC3HAV1 in an RNA-independent manner. Q9Y3B2:EXOSC1; NbExp=10; IntAct=EBI-371876, EBI-371892; Q9NQT5:EXOSC3; NbExp=7; IntAct=EBI-371876, EBI-371866; Q96B26:EXOSC8; NbExp=4; IntAct=EBI-371876, EBI-371922; Nucleus, nucleolus. Cytoplasm (Probable). Nucleus (Probable). Highly expressed in a variety of hematopoietic and epithelial tumor cell lines, but not in normal hematopoietic tissues or other normal tissue, with the exception of testis. Belongs to the RNase PH family. The six exosome core subunits containing a RNase PH- domain are not phosphorolytically active. Sequence=AAM75154.1; Type=Erroneous initiation; 3'-5'-exoribonuclease activity nuclear exosome (RNase complex) cytoplasmic exosome (RNase complex) exosome (RNase complex) RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol rRNA processing RNA catabolic process rRNA catabolic process nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' U4 snRNA 3'-end processing transcriptionally active chromatin regulation of mRNA stability exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay DNA deamination defense response to virus nuclear mRNA surveillance polyadenylation-dependent snoRNA 3'-end processing RNA phosphodiester bond hydrolysis, exonucleolytic exoribonuclease activity  uc002oqo.1 uc002oqo.2 uc002oqo.3 uc002oqo.4 uc002oqo.5 
ENST00000221249.10 PNPLA6 ENST00000221249.10 Homo sapiens patatin like phospholipase domain containing 6 (PNPLA6), transcript variant 2, mRNA. (from RefSeq NM_006702) A6NGQ0 ENST00000221249.1 ENST00000221249.2 ENST00000221249.3 ENST00000221249.4 ENST00000221249.5 ENST00000221249.6 ENST00000221249.7 ENST00000221249.8 ENST00000221249.9 NM_006702 NTE O60859 PLPL6_HUMAN Q86W58 Q8IY17 Q9UG58 uc002mgq.1 uc002mgq.2 uc002mgq.3 This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy. 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate. Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon. Endoplasmic reticulum membrane; Single-pass type I membrane protein; Cytoplasmic side. Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino- terminal transmembrane segment. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IY17-1; Sequence=Displayed; Name=2; IsoId=Q8IY17-2; Sequence=VSP_026388; Name=3; IsoId=Q8IY17-3; Sequence=VSP_026389; Note=No experimental confirmation available; Expressed in brain, placenta, kidney, neuron and skeletal muscle. Glycosylated. Defects in PNPLA6 are the cause of spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]; also known as NTE-related motor neuron disorder (NTEMND). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. Belongs to the NTE family. Contains 3 cyclic nucleotide-binding domains. Contains 1 patatin domain. lysophospholipase activity endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process membrane integral component of membrane lipid catabolic process hydrolase activity phosphatidylcholine metabolic process glycerophospholipid catabolic process  uc002mgq.1 uc002mgq.2 uc002mgq.3 
ENST00000221264.8 PLAUR ENST00000221264.8 Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 3, mRNA. (from RefSeq NM_001005377) A8K409 ENST00000221264.1 ENST00000221264.2 ENST00000221264.3 ENST00000221264.4 ENST00000221264.5 ENST00000221264.6 ENST00000221264.7 MO3 NM_001005377 Q03405 Q12876 Q15845 Q16887 Q6IB52 Q9BWT0 Q9NYC8 Q9UD69 Q9UEA6 Q9UM92 Q9UMV0 UPAR UPAR_HUMAN uc002oxg.1 uc002oxg.2 uc002oxg.3 This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]. Acts as a receptor for urokinase plasminogen activator. Plays a role in localizing and promoting plasmin formation. Mediates the proteolysis-independent signal transduction activation effects of U-PA. It is subject to negative-feedback regulation by U-PA which cleaves it into an inactive form. Monomer (Probable). Interacts with MRC2. Interacts (via the UPAR/Ly6 domains) with SRPX2. Isoform 1: Cell membrane; Lipid-anchor, GPI- anchor. Isoform 2: Secreted (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=uPAR1, GPI-anchored; IsoId=Q03405-1; Sequence=Displayed; Name=2; Synonyms=uPAR2, Secreted; IsoId=Q03405-2; Sequence=VSP_006715; Name=3; IsoId=Q03405-3; Sequence=VSP_006714; Expressed in neurons of the rolandic area of the brain (at protein level). Expressed in the brain. Contains 3 UPAR/Ly6 domains. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/plaur/"; positive regulation of protein phosphorylation receptor binding protein binding extracellular region endoplasmic reticulum lumen endoplasmic reticulum membrane plasma membrane integral component of plasma membrane focal adhesion chemotaxis signal transduction blood coagulation cell surface membrane integral component of membrane extrinsic component of membrane enzyme binding protein domain specific binding cell junction regulation of proteolysis urokinase plasminogen activator receptor activity anchored component of membrane specific granule membrane signaling receptor activity urokinase plasminogen activator signaling pathway fibrinolysis cell projection negative regulation of apoptotic process neutrophil degranulation positive regulation of DNA binding positive regulation of epidermal growth factor receptor signaling pathway invadopodium membrane positive regulation of release of cytochrome c from mitochondria negative regulation of intrinsic apoptotic signaling pathway negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  uc002oxg.1 uc002oxg.2 uc002oxg.3 
ENST00000221265.8 PAF1 ENST00000221265.8 Homo sapiens PAF1 homolog, Paf1/RNA polymerase II complex component (PAF1), transcript variant 1, mRNA. (from RefSeq NM_019088) ENST00000221265.1 ENST00000221265.2 ENST00000221265.3 ENST00000221265.4 ENST00000221265.5 ENST00000221265.6 ENST00000221265.7 NM_019088 O75239 PAF1_HUMAN PD2 Q8N7H5 Q9H166 Q9NUU9 uc002old.1 uc002old.2 uc002old.3 uc002old.4 uc002old.5 uc002old.6 This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non- phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both indepentently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of MLL1; it promotes leukemogenesis though association with MLL-rearranged oncoproteins, such as MLL-MLLT3/AF9 and MLL-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. In case of infection by influenza A strain H3N2, PAF1C associates with viral NS1 protein, thereby regulating gene transcription. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors. Has oncogenic activity in vivo and in vitro. Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and WDR61. Interacts with POLR2A, TCEA1, TTC37, MLL, SUPT5H, RNF20 and RNF40. Interacts with UBE2E1. Interacts with influenza A strain H3N2 NS1 protein; the interaction interferes with host cell gene transcription, specifically with that of antiviral genes. Q6P1J9:CDC73; NbExp=25; IntAct=EBI-2607770, EBI-930143; Q6PD62:CTR9; NbExp=22; IntAct=EBI-2607770, EBI-1019583; Q8WVC0:LEO1; NbExp=17; IntAct=EBI-2607770, EBI-932432; Q03164:MLL; NbExp=4; IntAct=EBI-2607770, EBI-591370; B2BUF1:NS1 (xeno); NbExp=6; IntAct=EBI-2607770, EBI-4291940; P24928:POLR2A; NbExp=5; IntAct=EBI-2607770, EBI-295301; Q92541:RTF1; NbExp=16; IntAct=EBI-2607770, EBI-1055239; P23193:TCEA1; NbExp=4; IntAct=EBI-2607770, EBI-2608271; Q6PGP7:TTC37; NbExp=2; IntAct=EBI-2607770, EBI-6083436; P51965:UBE2E1; NbExp=2; IntAct=EBI-2607770, EBI-348546; Nucleus. Note=Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N7H5-1; Sequence=Displayed; Name=2; IsoId=Q8N7H5-2; Sequence=VSP_032650, VSP_032651, VSP_032652; Note=No experimental confirmation available; Belongs to the PAF1 family. Sequence=AAC25503.1; Type=Erroneous gene model prediction; Sequence=EAW56880.1; Type=Erroneous gene model prediction; Sequence=EAW56881.1; Type=Erroneous gene model prediction; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PAF1ID44202ch19q13.html"; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding endodermal cell fate commitment chromatin binding protein binding nucleus nucleoplasm cytoplasm transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter mRNA polyadenylation histone monoubiquitination membrane Wnt signaling pathway protein ubiquitination histone modification nucleosome positioning Cdc73/Paf1 complex stem cell population maintenance cell junction positive regulation of histone methylation positive regulation of mRNA 3'-end processing positive regulation of transcription elongation from RNA polymerase II promoter histone H2B ubiquitination protein localization to nucleus transcriptionally active chromatin negative regulation of myeloid cell differentiation positive regulation of transcription from RNA polymerase II promoter cellular response to lipopolysaccharide positive regulation of cell cycle G1/S phase transition  uc002old.1 uc002old.2 uc002old.3 uc002old.4 uc002old.5 uc002old.6 
ENST00000221283.10 STXBP2 ENST00000221283.10 Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA. (from RefSeq NM_006949) ENST00000221283.1 ENST00000221283.2 ENST00000221283.3 ENST00000221283.4 ENST00000221283.5 ENST00000221283.6 ENST00000221283.7 ENST00000221283.8 ENST00000221283.9 NM_006949 Q15833 Q9BU65 STXB2_HUMAN UNC18B uc002mha.1 uc002mha.2 uc002mha.3 uc002mha.4 uc002mha.5 uc002mha.6 uc002mha.7 This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]. Involved in intracellular vesicle trafficking and vesicle fusion with membranes. Contributes to the granule exocytosis machinery through interaction with soluble N- ethylmaleimide-sensitive factor attachment protein receptor (SNARE) proteins that regulate membrane fusion. Regulates cytotoxic granule exocytosis in natural killer (NK) cells. Interacts with STX1A, STX2 and STX3 (By similarity). Interacts with STX11. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15833-1; Sequence=Displayed; Name=2; IsoId=Q15833-2; Sequence=VSP_040121; Placenta, lung, liver, kidney and pancreas, as well as in peripheral blood lymphocytes. Defects in STXBP2 are the cause of familial hemophagocytic lymphohistiocytosis type 5 (FHL5) [MIM:613101]. FHL5 is rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Belongs to the STXBP/unc-18/SEC1 family. leukocyte mediated cytotoxicity platelet degranulation protein binding extracellular region cytosol plasma membrane exocytosis vesicle docking involved in exocytosis protein transport vesicle-mediated transport apical plasma membrane syntaxin-1 binding syntaxin-3 binding specific granule azurophil granule zymogen granule membrane regulation of mast cell degranulation neutrophil degranulation cytolytic granule phagocytic vesicle extracellular exosome tertiary granule cellular response to interferon-gamma  uc002mha.1 uc002mha.2 uc002mha.3 uc002mha.4 uc002mha.5 uc002mha.6 uc002mha.7 
ENST00000221307.13 CYP4F3 ENST00000221307.13 Homo sapiens cytochrome P450 family 4 subfamily F member 3 (CYP4F3), transcript variant 1, mRNA. (from RefSeq NM_000896) CP4F3_HUMAN ENST00000221307.1 ENST00000221307.10 ENST00000221307.11 ENST00000221307.12 ENST00000221307.2 ENST00000221307.3 ENST00000221307.4 ENST00000221307.5 ENST00000221307.6 ENST00000221307.7 ENST00000221307.8 ENST00000221307.9 LTB4H NM_000896 O60634 Q08477 Q5U740 uc002nbj.1 uc002nbj.2 uc002nbj.3 uc002nbj.4 uc002nbj.5 This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]. Cytochromes P450 are a group of heme-thiolate monooxygenases. This enzyme requires molecular oxygen and NADPH for the omega-hydroxylation of LTB4, a potent chemoattractant for polymorphonuclear leukocytes. (6Z,8E,10E,14Z)-(5S,12R)-5,12-dihydroxyicosa- 6,8,10,14-tetraenoate + NADPH + O(2) = (6Z,8E,10E,14Z)-(5S,12R)- 5,12,20-trihydroxyicosa-6,8,10,14-tetraenoate + NADP(+) + H(2)O. Heme group (By similarity). Inhibited by carbon monoxide (CO). Lipid metabolism; leukotriene B4 degradation. Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Microsome membrane; Single-pass membrane protein (By similarity). Expressed in the polymorphonuclear leukocytes as well as leukocytes. Belongs to the cytochrome P450 family. Sequence=AAC08589.1; Type=Frameshift; Positions=67, 114; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp4f3/"; monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process icosanoid metabolic process leukotriene metabolic process membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen arachidonic acid metabolic process heme binding organelle membrane leukotriene B4 catabolic process intracellular membrane-bounded organelle metal ion binding leukotriene-B4 20-monooxygenase activity oxidation-reduction process aromatase activity  uc002nbj.1 uc002nbj.2 uc002nbj.3 uc002nbj.4 uc002nbj.5 
ENST00000221315.10 ZNF432 ENST00000221315.10 Homo sapiens zinc finger protein 432 (ZNF432), transcript variant 1, mRNA. (from RefSeq NM_014650) ENST00000221315.1 ENST00000221315.2 ENST00000221315.3 ENST00000221315.4 ENST00000221315.5 ENST00000221315.6 ENST00000221315.7 ENST00000221315.8 ENST00000221315.9 KIAA0798 NM_014650 O94892 ZN432_HUMAN uc002pyk.1 uc002pyk.2 uc002pyk.3 uc002pyk.4 uc002pyk.5 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 16 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAA34518.2; Type=Erroneous initiation; nucleic acid binding DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated metal ion binding  uc002pyk.1 uc002pyk.2 uc002pyk.3 uc002pyk.4 uc002pyk.5 
ENST00000221327.8 ZNF180 ENST00000221327.8 Homo sapiens zinc finger protein 180 (ZNF180), transcript variant 1, mRNA. (from RefSeq NM_013256) B2RCN6 ENST00000221327.1 ENST00000221327.2 ENST00000221327.3 ENST00000221327.4 ENST00000221327.5 ENST00000221327.6 ENST00000221327.7 NM_013256 Q9P1U2 Q9UJW8 ZN180_HUMAN uc002ozf.1 uc002ozf.2 uc002ozf.3 uc002ozf.4 uc002ozf.5 uc002ozf.6 Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]. May be involved in transcriptional regulation. Nucleus (Probable). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 12 C2H2-type zinc fingers. Contains 1 KRAB domain. RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding metal ion binding  uc002ozf.1 uc002ozf.2 uc002ozf.3 uc002ozf.4 uc002ozf.5 uc002ozf.6 
ENST00000221355.10 ZNF780B ENST00000221355.10 zinc finger protein 780B (from HGNC ZNF780B) AK127063 C9JTJ1 C9JTJ1_HUMAN ENST00000221355.1 ENST00000221355.2 ENST00000221355.3 ENST00000221355.4 ENST00000221355.5 ENST00000221355.6 ENST00000221355.7 ENST00000221355.8 ENST00000221355.9 LOC163131 hCG_43358 uc002omv.1 uc002omv.2 uc002omv.3 uc002omv.4 nucleic acid binding  uc002omv.1 uc002omv.2 uc002omv.3 uc002omv.4 
ENST00000221363.8 MAN2B1 ENST00000221363.8 Homo sapiens mannosidase alpha class 2B member 1 (MAN2B1), transcript variant 2, mRNA. (from RefSeq NM_001173498) ENST00000221363.1 ENST00000221363.2 ENST00000221363.3 ENST00000221363.4 ENST00000221363.5 ENST00000221363.6 ENST00000221363.7 LAMAN MA2B1_HUMAN MANB NM_001173498 O00754 O15330 Q16680 Q93094 Q9BW13 uc010dyv.1 uc010dyv.2 This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]. Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. Hydrolysis of terminal, non-reducing alpha-D- mannose residues in alpha-D-mannosides. Binds 1 zinc ion per subunit (By similarity). Lysosome. First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide- linked. Heavily glycosylated. Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM) [MIM:248500]. AM is a lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities. Belongs to the glycosyl hydrolase 38 family. Sequence=AAB03816.1; Type=Erroneous initiation; Sequence=AAC50812.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MAN2B1"; Name=Mendelian genes mannosidase, alpha, class 2B, member 1 (MAN2B1); Note=Leiden Open Variation Database (LOVD); URL="http://www.lovd.nl/MAN2B1"; catalytic activity alpha-mannosidase activity extracellular region extracellular space lysosome vacuolar membrane carbohydrate metabolic process mannose metabolic process cellular protein modification process protein deglycosylation metabolic process oligosaccharide catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds carbohydrate binding azurophil granule lumen lysosomal lumen neutrophil degranulation metal ion binding extracellular exosome  uc010dyv.1 uc010dyv.2 
ENST00000221399.8 TULP2 ENST00000221399.8 Homo sapiens TUB like protein 2 (TULP2), mRNA. (from RefSeq NM_003323) ENST00000221399.1 ENST00000221399.2 ENST00000221399.3 ENST00000221399.4 ENST00000221399.5 ENST00000221399.6 ENST00000221399.7 NM_003323 O00295 Q8TC50 TUBL2 TULP2_HUMAN uc002pkz.1 uc002pkz.2 uc002pkz.3 uc002pkz.4 TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC026070.2, U82469.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221399.8/ ENSP00000221399.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cytoplasm (By similarity). Secreted (By similarity). Note=Does not have a cleavable signal peptide and is secreted by a non-conventional pathway (By similarity). Strongly expressed in testis. Also expressed in retina. Expressed in cancer cell lines. Belongs to the TUB family. extracellular region cytoplasm cilium visual perception macromolecular complex binding protein localization to cilium  uc002pkz.1 uc002pkz.2 uc002pkz.3 uc002pkz.4 
ENST00000221403.7 DHDH ENST00000221403.7 Homo sapiens dihydrodiol dehydrogenase (DHDH), mRNA. (from RefSeq NM_014475) 2DD DHDH_HUMAN ENST00000221403.1 ENST00000221403.2 ENST00000221403.3 ENST00000221403.4 ENST00000221403.5 ENST00000221403.6 NM_014475 Q9UQ10 uc002ple.1 uc002ple.2 This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC032730.1, SRR5189667.70683.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221403.7/ ENSP00000221403.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Trans-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + NADPH. D-xylose + NADP(+) = D-xylono-1,5-lactone + NADPH. Homodimer. Small intestine. Belongs to the Gfo/Idh/MocA family. carbohydrate metabolic process NAD(P)+ transhydrogenase activity electron carrier activity oxidoreductase activity electron transport chain D-xylose catabolic process trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity D-xylose 1-dehydrogenase (NADP+) activity oxidation-reduction process  uc002ple.1 uc002ple.2 
ENST00000221413.10 RUVBL2 ENST00000221413.10 RuvB like AAA ATPase 2 (from HGNC RUVBL2) BC008355 ENST00000221413.1 ENST00000221413.2 ENST00000221413.3 ENST00000221413.4 ENST00000221413.5 ENST00000221413.6 ENST00000221413.7 ENST00000221413.8 ENST00000221413.9 X6R2L4 uc002pls.1 uc002pls.2  uc002pls.1 uc002pls.2 
ENST00000221418.9 ECH1 ENST00000221418.9 Homo sapiens enoyl-CoA hydratase 1 (ECH1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001398) A8K745 ECH1_HUMAN ENST00000221418.1 ENST00000221418.2 ENST00000221418.3 ENST00000221418.4 ENST00000221418.5 ENST00000221418.6 ENST00000221418.7 ENST00000221418.8 NM_001398 Q13011 Q8WVX0 Q96EZ9 uc002oji.1 uc002oji.2 uc002oji.3 uc002oji.4 uc002oji.5 This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.360432.1, SRR5189655.103444.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221418.9/ ENSP00000221418.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA (By similarity). Lipid metabolism; fatty acid beta-oxidation. Homohexamer (By similarity). P42858:HTT; NbExp=2; IntAct=EBI-711968, EBI-466029; P40763:STAT3; NbExp=2; IntAct=EBI-711968, EBI-518675; Mitochondrion (By similarity). Peroxisome (By similarity). Belongs to the enoyl-CoA hydratase/isomerase family. catalytic activity protein binding mitochondrion peroxisome peroxisomal matrix cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation membrane isomerase activity delta3,5-delta2,4-dienoyl-CoA isomerase activity extracellular exosome  uc002oji.1 uc002oji.2 uc002oji.3 uc002oji.4 uc002oji.5 
ENST00000221419.10 HNRNPL ENST00000221419.10 Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA. (from RefSeq NM_001533) A6ND69 A6NIT8 ENST00000221419.1 ENST00000221419.2 ENST00000221419.3 ENST00000221419.4 ENST00000221419.5 ENST00000221419.6 ENST00000221419.7 ENST00000221419.8 ENST00000221419.9 HNRPL HNRPL_HUMAN NM_001533 P/OKcl.14 P14866 Q9H3P3 uc060yfy.1 uc060yfy.2 Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Is associated with most nascent transcripts including those of the landmark giant loops of amphibian lampbrush chromosomes. Associates, together with APEX1, to the negative calcium responsive element (nCaRE) B2 of the APEX2 promoter. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with HNRPLL. Interacts with APEX1; the interaction is DNA-dependent. Nucleus, nucleoplasm. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14866-1; Sequence=Displayed; Name=2; IsoId=P14866-2; Sequence=VSP_044301; Several isoelectric forms of the L protein are probably the results of post-translational modifications. Contains 3 RRM (RNA recognition motif) domains. Sequence=CAA34261.1; Type=Erroneous initiation; Note=Translation N-terminally extended; regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm cytoplasm RNA processing mRNA processing membrane RNA metabolic process ribonucleoprotein granule transcription regulatory region DNA binding extracellular exosome pre-mRNA intronic binding ribonucleoprotein complex  uc060yfy.1 uc060yfy.2 
ENST00000221431.11 SARS2 ENST00000221431.11 Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), transcript variant 2, mRNA. (from RefSeq NM_017827) A6NHW7 B4DE10 ENST00000221431.1 ENST00000221431.10 ENST00000221431.2 ENST00000221431.3 ENST00000221431.4 ENST00000221431.5 ENST00000221431.6 ENST00000221431.7 ENST00000221431.8 ENST00000221431.9 NM_017827 Q9BVP3 Q9NP81 SARSM SYSM_HUMAN uc002oka.1 uc002oka.2 uc002oka.3 uc002oka.4 This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]. Catalyzes the attachment of serine to tRNA(Ser). Is also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (By similarity). ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser). ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec). Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1. Homodimer. The tRNA molecule binds across the dimer (By similarity). Q9UHX1:PUF60; NbExp=1; IntAct=EBI-1049768, EBI-1053259; Mitochondrion matrix (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP81-1; Sequence=Displayed; Name=2; IsoId=Q9NP81-2; Sequence=VSP_043020; Note=No experimental confirmation available; Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding (By similarity). Defects in SARS2 are the cause of hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [MIM:613845]. HUPRA is a multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. Sequence=AAH01020.2; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding RNA binding aminoacyl-tRNA ligase activity serine-tRNA ligase activity ATP binding mitochondrion mitochondrial matrix translation tRNA aminoacylation for protein translation seryl-tRNA aminoacylation ligase activity selenocysteinyl-tRNA(Sec) biosynthetic process  uc002oka.1 uc002oka.2 uc002oka.3 uc002oka.4 
ENST00000221444.2 KCNA7 ENST00000221444.2 Homo sapiens potassium voltage-gated channel subfamily A member 7 (KCNA7), mRNA. (from RefSeq NM_031886) A1KYX7 ENST00000221444.1 KCNA7_HUMAN NM_031886 Q96RP8 Q9BYS4 uc002pmg.1 uc002pmg.2 uc002pmg.3 uc002pmg.4 Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ310479.1, BC140906.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188, SAMEA2158800 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient (By similarity). Heterotetramer of potassium channel proteins (By similarity). Membrane; Multi-pass membrane protein (By similarity). Highly expressed in skeletal muscle, heart and kidney. The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments (By similarity). The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position (By similarity). Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.7/KCNA7 sub-subfamily. ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity potassium channel activity plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex membrane integral component of membrane regulation of ion transmembrane transport protein homooligomerization transmembrane transport potassium ion transmembrane transport  uc002pmg.1 uc002pmg.2 uc002pmg.3 uc002pmg.4 
ENST00000221448.9 SNRNP70 ENST00000221448.9 Homo sapiens small nuclear ribonucleoprotein U1 subunit 70 (SNRNP70), transcript variant 2, mRNA. (from RefSeq NM_001301069) B3KUA3 ENST00000221448.1 ENST00000221448.2 ENST00000221448.3 ENST00000221448.4 ENST00000221448.5 ENST00000221448.6 ENST00000221448.7 ENST00000221448.8 NM_001301069 P08621 P78493 P78494 Q15364 Q15686 Q15687 Q15689 Q99377 Q9UE45 Q9UE46 Q9UE47 Q9UE48 Q9UFQ6 RNPU1Z RPU1 RU17_HUMAN SNRP70 U1AP1 uc061azh.1 Mediates the splicing of pre-mRNA by binding to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA. Interacts with SCNM1 (By similarity). Found in a pre-mRNA splicing complex with SFRS4, SFRS5, SNRNP70, SNRPA1, SRRM1 and SRRM2. Found in a pre-mRNA exonic splicing enhancer (ESE) complex with SNRNP70, SNRPA1, SRRM1 and TRA2B/SFRS10. Interacts with dephosphorylated SFRS13A and SFPQ. Interacts with NUDT21/CPSF5, CPSF6, SCAF11, and ZRANB2. P49760:CLK2; NbExp=2; IntAct=EBI-1049228, EBI-750020; Nucleus. Nucleus speckle (By similarity). Nucleus, nucleoplasm (By similarity). Note=Colocalizes with SCNM1 and LUC7L2 in nuclear speckles (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P08621-1; Sequence=Displayed; Name=2; IsoId=P08621-2; Sequence=VSP_005850; Name=3; IsoId=P08621-3; Sequence=VSP_005848, VSP_005849; Name=4; IsoId=P08621-4; Sequence=VSP_005847; The N-terminus is blocked. Extensively phosphorylated on serine residues in the C- terminal region. Major ribonucleoprotein antigen recognized by the sera from patients with autoimmune diseases, such as systemic lupus erythematosus. Contains 1 RRM (RNA recognition motif) domain. Sequence=CAA28352.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA29964.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA29966.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; mRNA splicing, via spliceosome nucleic acid binding RNA binding mRNA binding protein binding nucleus nucleoplasm spliceosomal complex U1 snRNP mRNA processing nuclear speck U1 snRNA binding regulation of ATPase activity regulation of RNA splicing positive regulation of mRNA splicing, via spliceosome negative regulation of protein refolding U2-type prespliceosome negative regulation of chaperone-mediated autophagy  uc061azh.1 
ENST00000221452.13 RELB ENST00000221452.13 Homo sapiens RELB proto-oncogene, NF-kB subunit (RELB), mRNA. (from RefSeq NM_006509) ENST00000221452.1 ENST00000221452.10 ENST00000221452.11 ENST00000221452.12 ENST00000221452.2 ENST00000221452.3 ENST00000221452.4 ENST00000221452.5 ENST00000221452.6 ENST00000221452.7 ENST00000221452.8 ENST00000221452.9 NM_006509 Q01201 Q6GTX7 Q9UEI7 RELB_HUMAN uc060zvi.1 uc060zvi.2 NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF- kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF- kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexes are transcriptional activators. RELB neither associates with DNA nor with RELA/p65 or REL. Stimulates promoter activity in the presence of NFKB2/p49. Component of the NF-kappa-B RelB-p50 complex. Component of the NF-kappa-B RelB-p52 complex. Self-associates; the interaction seems to be transient and may prevent degradation allowing for heterodimer formation with p50 or p52. Interacts with NFKB1/p50, NFKB2/p52 and NFKB2/p100. Interacts with NFKBID (By similarity). Q8N668:COMMD1; NbExp=2; IntAct=EBI-357837, EBI-1550112; P49841:GSK3B; NbExp=4; IntAct=EBI-357837, EBI-373586; Nucleus. Cytoplasm, cytoskeleton, centrosome. Note=Co-localizes with NEK6 in the centrosome. By mitogens. Both N- and C-terminal domains are required for transcriptional activation. Phosphorylation at 'Thr-103' and 'Ser-573' is followed by proteasomal degradation (By similarity). Contains 1 RHD (Rel-like) domain. Was originally (PubMed:1577270) thought to inhibit the transcriptional activity of nuclear factor NF-kappa-B. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RELBID324.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding stimulatory C-type lectin receptor signaling pathway DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter inflammatory response I-kappaB kinase/NF-kappaB signaling positive regulation of gene expression transcriptional repressor complex antigen processing and presentation protein kinase binding lymphocyte differentiation negative regulation of interferon-beta production circadian regulation of gene expression macromolecular complex response to cytokine NIK/NF-kappaB signaling T-helper 1 type immune response identical protein binding myeloid dendritic cell differentiation T-helper 1 cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter rhythmic process cellular response to osmotic stress centrosome  uc060zvi.1 uc060zvi.2 
ENST00000221455.8 CLASRP ENST00000221455.8 Homo sapiens CLK4 associating serine/arginine rich protein (CLASRP), transcript variant 3, non-coding RNA. (from RefSeq NR_103529) A0A0A0MQS2 ENST00000221455.1 ENST00000221455.2 ENST00000221455.3 ENST00000221455.4 ENST00000221455.5 ENST00000221455.6 ENST00000221455.7 NR_103529 uc002pak.1 uc002pak.2 uc002pak.3 uc002pak.4  uc002pak.1 uc002pak.2 uc002pak.3 uc002pak.4 
ENST00000221459.7 LIN7B ENST00000221459.7 Homo sapiens lin-7 homolog B, crumbs cell polarity complex component (LIN7B), transcript variant 1, mRNA. (from RefSeq NM_022165) ENST00000221459.1 ENST00000221459.2 ENST00000221459.3 ENST00000221459.4 ENST00000221459.5 ENST00000221459.6 LIN7B_HUMAN MALS2 NM_022165 Q9HAP6 UNQ3116/PRO10200 VELI2 uc002pmp.1 uc002pmp.2 uc002pmp.3 uc002pmp.4 Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity). Forms two exclusive ternary complexes with CASK and APBA1 or CASKIN1. Can also interact with other modular proteins containing protein-protein interaction domains like MPP5, MPP6, MPP7, DLG1, DLG2 and DLG3 through its L27 domain. Interacts with DLG4 and GRIN2B as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1 (By similarity). Interacts with ASIC3. Interacts with TOPK. Interacts with RTKN. Cell membrane; Peripheral membrane protein. Basolateral cell membrane; Peripheral membrane protein. Cell junction (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density; Peripheral membrane protein (By similarity). Cell junction, tight junction (By similarity). Cell junction, synapse, synaptosome (By similarity). Note=Enriched in synaptosomes and at epithelial cell-cell junctions (By similarity). Mainly basolateral in renal epithelial cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HAP6-1; Sequence=Displayed; Name=2; IsoId=Q9HAP6-2; Sequence=VSP_042156; The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane (By similarity). The PDZ domain regulates endocytosis and recycling of the receptor at the membrane (By similarity). The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes (By similarity). Belongs to the lin-7 family. Contains 1 L27 domain. Contains 1 PDZ (DHR) domain. plasma membrane cell-cell junction bicellular tight junction exocytosis neurotransmitter secretion postsynaptic density protein transport membrane basolateral plasma membrane protein domain specific binding cell junction PDZ domain binding neuron projection maintenance of epithelial cell apical/basal polarity synapse postsynaptic membrane L27 domain binding MPP7-DLG1-LIN7 complex presynapse protein localization to basolateral plasma membrane  uc002pmp.1 uc002pmp.2 uc002pmp.3 uc002pmp.4 
ENST00000221462.9 PPP1R37 ENST00000221462.9 Homo sapiens protein phosphatase 1 regulatory subunit 37 (PPP1R37), mRNA. (from RefSeq NM_019121) B5MDA4 ENST00000221462.1 ENST00000221462.2 ENST00000221462.3 ENST00000221462.4 ENST00000221462.5 ENST00000221462.6 ENST00000221462.7 ENST00000221462.8 KIAA1986 LRRC68 NM_019121 O75864 PPR37_HUMAN Q8IWK3 Q8TF16 uc021uvs.1 uc021uvs.2 uc021uvs.3 Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. Interacts with PPP1CA. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75864-1; Sequence=Displayed; Name=2; IsoId=O75864-2; Sequence=VSP_031754, VSP_031755; Note=Due to an intron retention. No experimental confirmation available; Belongs to the PPP1R37 family. Contains 5 LRR (leucine-rich) repeats. Sequence=AAC62258.1; Type=Erroneous gene model prediction; Sequence=BAB85572.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein phosphatase inhibitor activity protein binding negative regulation of phosphatase activity negative regulation of phosphoprotein phosphatase activity  uc021uvs.1 uc021uvs.2 uc021uvs.3 
ENST00000221466.10 FCGRT ENST00000221466.10 Homo sapiens Fc fragment of IgG receptor and transporter (FCGRT), transcript variant 1, mRNA. (from RefSeq NM_001136019) ENST00000221466.1 ENST00000221466.2 ENST00000221466.3 ENST00000221466.4 ENST00000221466.5 ENST00000221466.6 ENST00000221466.7 ENST00000221466.8 ENST00000221466.9 FCGRN_HUMAN FCRN NM_001136019 P55899 Q5HYM5 Q9HBV7 Q9NZ19 uc002poe.1 uc002poe.2 uc002poe.3 uc002poe.4 This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]. Binds to the Fc region of monomeric immunoglobulins gamma. Mediates the uptake of IgG from milk. Possible role in transfer of immunoglobulin G from mother to fetus. FcRn complex consist of two subunits: p51, and p14 which is equivalent to beta-2-microglobulin. It forms an MHC class I- like heterodimer (By similarity). Cell membrane; Single-pass type I membrane protein (By similarity). Belongs to the immunoglobulin superfamily. positive regulation of T cell mediated cytotoxicity IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor antigen processing and presentation of endogenous peptide antigen via MHC class Ib antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent extracellular space endosome plasma membrane immune response external side of plasma membrane endosome membrane membrane integral component of membrane IgG binding beta-2-microglobulin binding peptide antigen binding  uc002poe.1 uc002poe.2 uc002poe.3 uc002poe.4 
ENST00000221476.4 CKM ENST00000221476.4 Homo sapiens creatine kinase, M-type (CKM), mRNA. (from RefSeq NM_001824) CKMM ENST00000221476.1 ENST00000221476.2 ENST00000221476.3 KCRM_HUMAN NM_001824 P06732 Q96QL9 uc002pbd.1 uc002pbd.2 uc002pbd.3 uc002pbd.4 uc002pbd.5 uc002pbd.6 The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007462.1, SRR5189655.101838.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMEA2159607 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221476.4/ ENSP00000221476.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa. ATP + creatine = ADP + phosphocreatine. Dimer of identical or non-identical chains. With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain. Cytoplasm. Belongs to the ATP:guanido phosphotransferase family. Contains 1 phosphagen kinase C-terminal domain. Contains 1 phosphagen kinase N-terminal domain. Name=Wikipedia; Note=Creatine kinase entry; URL="http://en.wikipedia.org/wiki/Creatine_kinase"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ckm/"; Name=Wikipedia; Note=CKM entry; URL="http://en.wikipedia.org/wiki/CKM_(gene)"; nucleotide binding catalytic activity creatine kinase activity protein binding ATP binding extracellular space cytoplasm cytosol creatine metabolic process kinase activity phosphorylation transferase activity transferase activity, transferring phosphorus-containing groups phosphocreatine biosynthetic process  uc002pbd.1 uc002pbd.2 uc002pbd.3 uc002pbd.4 uc002pbd.5 uc002pbd.6 
ENST00000221480.6 PEX11G ENST00000221480.6 Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), transcript variant 1, mRNA. (from RefSeq NM_080662) ENST00000221480.1 ENST00000221480.2 ENST00000221480.3 ENST00000221480.4 ENST00000221480.5 NM_080662 PEX11C PX11C_HUMAN Q8NDM0 Q96HA9 uc002mgk.1 uc002mgk.2 uc002mgk.3 uc002mgk.4 The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]. Peroxisome membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96HA9-1; Sequence=Displayed; Name=2; IsoId=Q96HA9-2; Sequence=VSP_013539; Note=No experimental confirmation available; Belongs to the peroxin-11 family. protein binding peroxisome peroxisomal membrane integral component of peroxisomal membrane membrane integral component of membrane peroxisome fission intrinsic component of peroxisomal membrane macromolecular complex regulation of peroxisome size  uc002mgk.1 uc002mgk.2 uc002mgk.3 uc002mgk.4 
ENST00000221485.8 SLC17A7 ENST00000221485.8 Homo sapiens solute carrier family 17 member 7 (SLC17A7), mRNA. (from RefSeq NM_020309) BNPI ENST00000221485.1 ENST00000221485.2 ENST00000221485.3 ENST00000221485.4 ENST00000221485.5 ENST00000221485.6 ENST00000221485.7 NM_020309 Q6PCD0 Q9P2U7 VGLU1_HUMAN VGLUT1 uc002pnp.1 uc002pnp.2 uc002pnp.3 uc002pnp.4 uc002pnp.5 The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC059379.1, SRR3476690.554678.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221485.8/ ENSP00000221485.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates the uptake of glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells. May also mediate the transport of inorganic phosphate. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane (By similarity). Membrane; Multi-pass membrane protein (Potential). Cell junction, synapse, synaptosome (By similarity). Expressed in several regions of the brain including amygdala, cerebellum, cerebral cortex, hippocampus, frontal lobe, medulla, occipital lobe, putamen and temporal lobe. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. neural retina development L-glutamate transmembrane transporter activity inorganic phosphate transmembrane transporter activity neurotransmitter transporter activity plasma membrane integral component of plasma membrane ion transport sodium ion transport phosphate ion transport neurotransmitter transport chemical synaptic transmission brain development long-term memory synaptic vesicle extracellular-glutamate-gated chloride channel activity glutamate secretion symporter activity sodium:inorganic phosphate symporter activity sodium-dependent phosphate transmembrane transporter activity L-glutamate transport membrane integral component of membrane cell junction integral component of synaptic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle synaptic transmission, glutamatergic sodium ion transmembrane transport sequestering of neurotransmitter neuron projection intracellular organelle cerebellar mossy fiber sodium-dependent phosphate transport synapse presynaptic active zone regulation of synapse structure or activity L-glutamate import transmembrane transport excitatory synapse excitatory postsynaptic potential clathrin-sculpted glutamate transport vesicle membrane synaptic vesicle lumen acidification neurotransmitter loading into synaptic vesicle postsynapse regulation of synaptic vesicle endocytosis chloride transmembrane transport  uc002pnp.1 uc002pnp.2 uc002pnp.3 uc002pnp.4 uc002pnp.5 
ENST00000221486.6 RNASEH2A ENST00000221486.6 Homo sapiens ribonuclease H2 subunit A (RNASEH2A), mRNA. (from RefSeq NM_006397) B2RCY1 ENST00000221486.1 ENST00000221486.2 ENST00000221486.3 ENST00000221486.4 ENST00000221486.5 NM_006397 O75792 Q96F11 RNASEHI RNH2A_HUMAN RNHIA uc002mvg.1 uc002mvg.2 uc002mvg.3 uc002mvg.4 The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK315327.1, AY363912.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221486.6/ ENSP00000221486.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. Endonucleolytic cleavage to 5'- phosphomonoester. Manganese or magnesium. Binds 1 divalent metal ion per monomer in the absence of substrate. May bind a second metal ion after substrate binding (By similarity). The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C. Nucleus (Probable). Defects in RNASEH2A are the cause of Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. Belongs to the RNase HII family. Eukaryotic subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RNASEH2A"; nucleic acid binding RNA binding nuclease activity endonuclease activity RNA-DNA hybrid ribonuclease activity ribonuclease activity nucleus nucleoplasm cytosol DNA replication mismatch repair RNA catabolic process RNA metabolic process hydrolase activity ribonuclease H2 complex DNA replication, removal of RNA primer metal ion binding nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic  uc002mvg.1 uc002mvg.2 uc002mvg.3 uc002mvg.4 
ENST00000221494.10 SF3A2 ENST00000221494.10 Homo sapiens splicing factor 3a subunit 2 (SF3A2), mRNA. (from RefSeq NM_007165) B2RBU1 D6W605 ENST00000221494.1 ENST00000221494.2 ENST00000221494.3 ENST00000221494.4 ENST00000221494.5 ENST00000221494.6 ENST00000221494.7 ENST00000221494.8 ENST00000221494.9 NM_007165 O75245 Q15428 SAP62 SF3A2_HUMAN uc002lvg.1 uc002lvg.2 uc002lvg.3 uc002lvg.4 uc002lvg.5 This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009903.2, SRR3476690.238362.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221494.10/ ENSP00000221494.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Subunit of the splicing factor SF3A required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Component of splicing factor SF3A which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62, SF3A1/SAP114. SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Identified in the spliceosome C complex. Interacts with HTATSF1. Nucleus (By similarity). Belongs to the SF3A2 family. Contains 1 matrin-type zinc finger. spliceosomal complex assembly mRNA 3'-splice site recognition mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U2 snRNP mRNA processing zinc ion binding RNA splicing positive regulation of neuron projection development nuclear speck metal ion binding U2-type prespliceosome U2-type precatalytic spliceosome catalytic step 2 spliceosome U2-type prespliceosome assembly  uc002lvg.1 uc002lvg.2 uc002lvg.3 uc002lvg.4 uc002lvg.5 
ENST00000221496.5 AMH ENST00000221496.5 Homo sapiens anti-Mullerian hormone (AMH), mRNA. (from RefSeq NM_000479) ENST00000221496.1 ENST00000221496.2 ENST00000221496.3 ENST00000221496.4 MIF MIS_HUMAN NM_000479 O75246 P03971 Q6GTN3 uc002lvh.1 uc002lvh.2 uc002lvh.3 uc002lvh.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC049194.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221496.5/ ENSP00000221496.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This glycoprotein, produced by the Sertoli cells of the testis, causes regression of the Muellerian duct. It is also able to inhibit the growth of tumors derived from tissues of Muellerian duct origin. Homodimer; disulfide-linked. Secreted. Defects in AMH are the cause of persistent Muellerian duct syndrome type 1 (PMDS1) [MIM:261550]. PMDS1 is a form of male pseudohermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males. Although it does not compete with EGF for receptor binding sites, MIS can inhibit the autophosphorylation of the EGF receptor in vitro. Belongs to the TGF-beta family. Name=Wikipedia; Note=Anti-Mullerian hormone entry; URL="http://en.wikipedia.org/wiki/Anti-m%C3%BCllerian_hormone"; preantral ovarian follicle growth urogenital system development Mullerian duct regression receptor binding transforming growth factor beta receptor binding hormone activity extracellular region extracellular space cell-cell signaling gonadal mesoderm development sex determination sex differentiation aging growth factor activity gonad development positive regulation of gene expression response to organic cyclic compound cell differentiation BMP signaling pathway response to drug positive regulation of NF-kappaB transcription factor activity negative regulation of ovarian follicle development  uc002lvh.1 uc002lvh.2 uc002lvh.3 uc002lvh.4 
ENST00000221498.7 DKKL1 ENST00000221498.7 Homo sapiens dickkopf like acrosomal protein 1 (DKKL1), transcript variant 1, mRNA. (from RefSeq NM_014419) DKKL1_HUMAN ENST00000221498.1 ENST00000221498.2 ENST00000221498.3 ENST00000221498.4 ENST00000221498.5 ENST00000221498.6 NM_014419 Q9UK85 SGY1 UNQ735/PRO1429 uc002pnk.1 uc002pnk.2 uc002pnk.3 uc002pnk.4 uc002pnk.5 The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]. Secreted. N-glycosylated. To the N-terminal section of DKK-3. acrosomal vesicle extracellular region extracellular space penetration of zona pellucida anatomical structure morphogenesis cytoplasmic vesicle co-receptor binding positive regulation of apoptotic process positive regulation of fat cell differentiation receptor antagonist activity negative regulation of canonical Wnt signaling pathway negative regulation of testosterone biosynthetic process negative regulation of receptor activity  uc002pnk.1 uc002pnk.2 uc002pnk.3 uc002pnk.4 uc002pnk.5 
ENST00000221504.12 TRMT1 ENST00000221504.12 Homo sapiens tRNA methyltransferase 1 (TRMT1), transcript variant 4, mRNA. (from RefSeq NM_001351760) ENST00000221504.1 ENST00000221504.10 ENST00000221504.11 ENST00000221504.2 ENST00000221504.3 ENST00000221504.4 ENST00000221504.5 ENST00000221504.6 ENST00000221504.7 ENST00000221504.8 ENST00000221504.9 NM_001351760 O76103 Q548Y5 Q8WVA6 Q9NXH9 TRM1_HUMAN uc002mwk.1 uc002mwk.2 uc002mwk.3 This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.145785.1, SRR1163658.537464.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl-L-methionine as donor of the methyl groups. 2 S-adenosyl-L-methionine + guanine(26) in tRNA = 2 S-adenosyl-L-homocysteine + N(2)-dimethylguanine(26) in tRNA. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXH9-1; Sequence=Displayed; Name=2; IsoId=Q9NXH9-2; Sequence=VSP_016720; Note=No experimental confirmation available; Contains 1 C3H1-type zinc finger. tRNA binding tRNA N2-guanine methylation RNA binding tRNA (guanine-N2-)-methyltransferase activity protein binding nucleoplasm tRNA modification tRNA processing methyltransferase activity transferase activity methylation metal ion binding  uc002mwk.1 uc002mwk.2 uc002mwk.3 
ENST00000221515.6 RETN ENST00000221515.6 Homo sapiens resistin (RETN), transcript variant 1, mRNA. (from RefSeq NM_020415) D6W649 ENST00000221515.1 ENST00000221515.2 ENST00000221515.3 ENST00000221515.4 ENST00000221515.5 FIZZ3 HXCP1 NM_020415 Q540D9 Q9HD89 RETN_HUMAN RSTN UNQ407/PRO1199 uc002mhf.1 uc002mhf.2 uc002mhf.3 This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]. Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells. Potentially links obesity to diabetes. Homodimer; disulfide-linked (By similarity). Secreted. Expressed only in fatty tissues. Belongs to the resistin/FIZZ family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/retn/"; hormone activity extracellular region extracellular space nucleus signal transduction aging biological_process response to mechanical stimulus response to insulin azurophil granule lumen specific granule lumen neutrophil degranulation fat cell differentiation positive regulation of synaptic transmission extracellular exosome negative regulation of feeding behavior positive regulation of progesterone secretion  uc002mhf.1 uc002mhf.2 uc002mhf.3 
ENST00000221538.8 RSPH6A ENST00000221538.8 Homo sapiens radial spoke head 6 homolog A (RSPH6A), mRNA. (from RefSeq NM_030785) ENST00000221538.1 ENST00000221538.2 ENST00000221538.3 ENST00000221538.4 ENST00000221538.5 ENST00000221538.6 ENST00000221538.7 NM_030785 Q53FE2 Q6PEZ9 Q9H0K4 RSH6A_HUMAN RSHL1 uc002pdm.1 uc002pdm.2 uc002pdm.3 uc002pdm.4 uc002pdm.5 The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AL136761.1, AK098837.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221538.8/ ENSP00000221538.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Belongs to the flagellar radial spoke RSP4/6 family. radial spoke intracellular cilium assembly cilium movement involved in cell motility  uc002pdm.1 uc002pdm.2 uc002pdm.3 uc002pdm.4 uc002pdm.5 
ENST00000221543.10 TBC1D17 ENST00000221543.10 Homo sapiens TBC1 domain family member 17 (TBC1D17), transcript variant 1, mRNA. (from RefSeq NM_024682) ENST00000221543.1 ENST00000221543.2 ENST00000221543.3 ENST00000221543.4 ENST00000221543.5 ENST00000221543.6 ENST00000221543.7 ENST00000221543.8 ENST00000221543.9 NM_024682 Q9HA65 TBC17_HUMAN uc002pqo.1 uc002pqo.2 uc002pqo.3 uc002pqo.4 uc002pqo.5 May act as a GTPase-activating protein for Rab family protein(s). Contains 1 Rab-GAP TBC domain. GTPase activator activity protein binding autophagosome cytosol intracellular protein transport autophagy protein transport Rab GTPase binding cytoplasmic vesicle retrograde transport, endosome to Golgi recycling endosome activation of GTPase activity regulation of cilium assembly  uc002pqo.1 uc002pqo.2 uc002pqo.3 uc002pqo.4 uc002pqo.5 
ENST00000221554.13 YJU2B ENST00000221554.13 Homo sapiens coiled-coil domain containing 130 (CCDC130), transcript variant 1, mRNA. (from RefSeq NM_030818) CC130_HUMAN CCDC130 ENST00000221554.1 ENST00000221554.10 ENST00000221554.11 ENST00000221554.12 ENST00000221554.2 ENST00000221554.3 ENST00000221554.4 ENST00000221554.5 ENST00000221554.6 ENST00000221554.7 ENST00000221554.8 ENST00000221554.9 NM_030818 P13994 Q9BQ72 SB115 uc002mxc.1 uc002mxc.2 uc002mxc.3 P49910:ZNF165; NbExp=2; IntAct=EBI-716093, EBI-741694; By poly(RI), poly(RC) and Newcastle disease virus. Belongs to the CWC16 family. Sequence=CAA32138.1; Type=Erroneous gene model prediction; Sequence=CAA32138.1; Type=Frameshift; Positions=Several; protein binding cellular_component response to virus  uc002mxc.1 uc002mxc.2 uc002mxc.3 
ENST00000221561.12 TLE5 ENST00000221561.12 Homo sapiens TLE family member 5, transcriptional modulator (TLE5), transcript variant 1, mRNA. (from RefSeq NM_198969) AES AES_HUMAN B2RBL0 ENST00000221561.1 ENST00000221561.10 ENST00000221561.11 ENST00000221561.2 ENST00000221561.3 ENST00000221561.4 ENST00000221561.5 ENST00000221561.6 ENST00000221561.7 ENST00000221561.8 ENST00000221561.9 GRG NM_198969 Q08117 Q12808 Q14CJ1 Q96TG9 Q9UDY9 uc002lxb.1 uc002lxb.2 The protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho, a protein involved in neurogenesis during embryonic development. The encoded protein, which belongs to the groucho/TLE family of proteins, can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Acts as dominant repressor towards other family members. Inhibits NF-kappa-B-regulated gene expression. May be required for the initiation and maintenance of the differentiated state. Homooligomer and heterooligomer with other family members. Binds TCF7 (By similarity). Binds the NF-kappa-B subunit RELA. Interacts with PHF12. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=AES-1; IsoId=Q08117-1; Sequence=Displayed; Name=2; Synonyms=AES-2; IsoId=Q08117-2; Sequence=VSP_043527; Found predominantly in muscle, heart and Placenta. In fetal tissues, abundantly expressed in the heart, lung, kidney, brain and liver. Lacks the C-terminal WD repeats. Ubiquitinated by XIAP/BIRC4. Belongs to the WD repeat Groucho/TLE family. Sequence=AAC35517.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter skeletal system development transcription corepressor activity protein binding nucleus transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development animal organ morphogenesis negative regulation of gene expression Wnt signaling pathway cellular response to extracellular stimulus negative regulation of protein binding regulation of growth identical protein binding negative regulation of transcription, DNA-templated negative regulation of response to cytokine stimulus repressing transcription factor binding response to interleukin-1 negative regulation of canonical Wnt signaling pathway positive regulation of anoikis  uc002lxb.1 uc002lxb.2 
ENST00000221566.7 SGTA ENST00000221566.7 Homo sapiens small glutamine rich tetratricopeptide repeat containing alpha (SGTA), mRNA. (from RefSeq NM_003021) D6W610 ENST00000221566.1 ENST00000221566.2 ENST00000221566.3 ENST00000221566.4 ENST00000221566.5 ENST00000221566.6 NM_003021 O43765 Q6FIA9 Q9BTZ9 SGT SGT1 SGTA_HUMAN uc002lwi.1 uc002lwi.2 uc002lwi.3 This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1084371.1, AL050156.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221566.7/ ENSP00000221566.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity. Homooligomerize (By similarity). Interacts with NS1 from parvovirus H-1, with Vpu and Gag from HIV-1. Interacts with SARS- CoV accessory protein 7a. Interacts with DNAJC5 and DNAJC5B. Q14653:IRF3; NbExp=3; IntAct=EBI-347996, EBI-2650369; Q13568:IRF5; NbExp=3; IntAct=EBI-347996, EBI-3931258; Ubiquitous. The second tetratricopeptide repeat (TPR 2) mediates the interaction with SARS-CoV accessory protein 7a. Belongs to the SGT family. Contains 3 TPR repeats. protein binding nucleus cytoplasm cytosol posttranslational protein targeting to membrane membrane viral process ER-associated ubiquitin-dependent protein catabolic process identical protein binding protein self-association chaperone-mediated protein folding tail-anchored membrane protein insertion into ER membrane TRC complex presynapse extrinsic component of synaptic vesicle membrane negative regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of chaperone-mediated protein folding BAT3 complex binding negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  uc002lwi.1 uc002lwi.2 uc002lwi.3 
ENST00000221567.6 ENSG00000290933 ENST00000221567.6 ENSG00000290933 (from geneSymbol) DQ224421 ENST00000221567.1 ENST00000221567.2 ENST00000221567.3 ENST00000221567.4 ENST00000221567.5 uc061crn.1 uc061crn.2  uc061crn.1 uc061crn.2 
ENST00000221573.11 SNAPC2 ENST00000221573.11 Homo sapiens small nuclear RNA activating complex polypeptide 2 (SNAPC2), transcript variant 1, mRNA. (from RefSeq NM_003083) B2RBZ6 D6W663 ENST00000221573.1 ENST00000221573.10 ENST00000221573.2 ENST00000221573.3 ENST00000221573.4 ENST00000221573.5 ENST00000221573.6 ENST00000221573.7 ENST00000221573.8 ENST00000221573.9 NM_003083 Q13486 Q13487 SNAP45 SNPC2_HUMAN uc002miw.1 uc002miw.2 uc002miw.3 uc002miw.4 This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC2 interacts with TBP and SNAPC4. Nucleus. transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated transcription from RNA polymerase II promoter transcription from RNA polymerase III promoter snRNA transcription nuclear body snRNA transcription from RNA polymerase II promoter  uc002miw.1 uc002miw.2 uc002miw.3 uc002miw.4 
ENST00000221576.4 C19orf53 ENST00000221576.4 chromosome 19 open reading frame 53 (from HGNC C19orf53) A0A0A0MQS3 AF078852 ENST00000221576.1 ENST00000221576.2 ENST00000221576.3 uc060ujk.1  uc060ujk.1 
ENST00000221665.5 FIZ1 ENST00000221665.5 Homo sapiens FLT3 interacting zinc finger 1 (FIZ1), mRNA. (from RefSeq NM_032836) A2RU72 ENST00000221665.1 ENST00000221665.2 ENST00000221665.3 ENST00000221665.4 FIZ1_HUMAN NM_032836 Q6ZMJ7 Q96SL8 ZNF798 uc002qli.1 uc002qli.2 uc002qli.3 uc002qli.4 uc002qli.5 This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK027674.1, SRR1163657.14902.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2154405 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221665.5/ ENSP00000221665.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May be a transcriptional repressor of NRL function in photoreceptors. Does not repress CRX-mediated transactivation (By similarity). Interacts with FLT3 cytoplasmic catalytic domain, following receptor stimulation, in a kinase-independent manner. Does not interact with other structurally related receptor tyrosine kinases, including KIT, CSF1R and PDGFR. Interacts with NRL (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Widely expressed. Contains 11 C2H2-type zinc fingers. Sequence=BAD18728.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; positive regulation of protein phosphorylation nucleic acid binding nucleus cytoplasm receptor tyrosine kinase binding metal ion binding  uc002qli.1 uc002qli.2 uc002qli.3 uc002qli.4 uc002qli.5 
ENST00000221671.8 C19orf44 ENST00000221671.8 Homo sapiens chromosome 19 open reading frame 44 (C19orf44), transcript variant 1, mRNA. (from RefSeq NM_032207) CS044_HUMAN ENST00000221671.1 ENST00000221671.2 ENST00000221671.3 ENST00000221671.4 ENST00000221671.5 ENST00000221671.6 ENST00000221671.7 NM_032207 Q8N6Y7 Q9H6X5 uc002neh.1 uc002neh.2 uc002neh.3 uc002neh.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6X5-1; Sequence=Displayed; Name=2; IsoId=Q9H6X5-2; Sequence=VSP_026311; Note=No experimental confirmation available; protein binding  uc002neh.1 uc002neh.2 uc002neh.3 uc002neh.4 
ENST00000221700.11 CYP4F2 ENST00000221700.11 Homo sapiens cytochrome P450 family 4 subfamily F member 2 (CYP4F2), mRNA. (from RefSeq NM_001082) A8K425 CP4F2_HUMAN ENST00000221700.1 ENST00000221700.10 ENST00000221700.2 ENST00000221700.3 ENST00000221700.4 ENST00000221700.5 ENST00000221700.6 ENST00000221700.7 ENST00000221700.8 ENST00000221700.9 NM_001082 P78329 Q16677 Q6NWT4 Q6NWT6 Q9NNZ0 Q9UIU8 uc002nbs.1 uc002nbs.2 uc002nbs.3 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290790.1, U02388.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152474, SAMEA2153946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221700.11/ ENSP00000221700.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. (6Z,8E,10E,14Z)-(5S,12R)-5,12-dihydroxyicosa- 6,8,10,14-tetraenoate + NADPH + O(2) = (6Z,8E,10E,14Z)-(5S,12R)- 5,12,20-trihydroxyicosa-6,8,10,14-tetraenoate + NADP(+) + H(2)O. Heme group (By similarity). P16333:NCK1; NbExp=2; IntAct=EBI-1752413, EBI-389883; Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Liver. Belongs to the cytochrome P450 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp4f2/"; very long-chain fatty acid metabolic process long-chain fatty acid metabolic process renal water homeostasis pressure natriuresis monooxygenase activity iron ion binding protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process icosanoid metabolic process leukotriene metabolic process blood coagulation regulation of blood pressure arachidonic acid epoxygenase activity membrane apical plasma membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen drug metabolic process alkane 1-monooxygenase activity arachidonic acid metabolic process epoxygenase P450 pathway heme binding organelle membrane negative regulation of icosanoid secretion positive regulation of icosanoid secretion leukotriene B4 catabolic process vitamin E metabolic process menaquinone catabolic process phylloquinone catabolic process vitamin K catabolic process intracellular membrane-bounded organelle metal ion binding leukotriene-B4 20-monooxygenase activity arachidonic acid omega-hydroxylase activity alpha-tocopherol omega-hydroxylase activity tocotrienol omega-hydroxylase activity sodium ion homeostasis oxidation-reduction process aromatase activity omega-hydroxylase P450 pathway  uc002nbs.1 uc002nbs.2 uc002nbs.3 
ENST00000221730.8 EPHX3 ENST00000221730.8 Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA. (from RefSeq NM_024794) A3KMR3 ABHD9 ENST00000221730.1 ENST00000221730.2 ENST00000221730.3 ENST00000221730.4 ENST00000221730.5 ENST00000221730.6 ENST00000221730.7 EPHX3_HUMAN NM_024794 Q9H6B9 uc002nap.1 uc002nap.2 uc002nap.3 uc002nap.4 uc002nap.5 Secreted (Potential). Belongs to the AB hydrolase superfamily. Epoxide hydrolase family. catalytic activity epoxide hydrolase activity endoplasmic reticulum lipid metabolic process membrane integral component of membrane hydrolase activity organelle membrane intracellular membrane-bounded organelle epoxide metabolic process  uc002nap.1 uc002nap.2 uc002nap.3 uc002nap.4 uc002nap.5 
ENST00000221735.12 ZNF419 ENST00000221735.12 Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 2, mRNA. (from RefSeq NM_024691) ENST00000221735.1 ENST00000221735.10 ENST00000221735.11 ENST00000221735.2 ENST00000221735.3 ENST00000221735.4 ENST00000221735.5 ENST00000221735.6 ENST00000221735.7 ENST00000221735.8 ENST00000221735.9 NM_024691 Q96HQ0 Q9H5P0 ZN419_HUMAN ZNF419A uc002qov.1 uc002qov.2 uc002qov.3 uc002qov.4 May be involved in transcriptional regulation. Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96HQ0-1; Sequence=Displayed; Name=2; IsoId=Q96HQ0-2; Sequence=VSP_016034, VSP_016033; Note=No experimental confirmation available; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 11 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding protein binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002qov.1 uc002qov.2 uc002qov.3 uc002qov.4 
ENST00000221742.7 SLC1A6 ENST00000221742.7 Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium. (from UniProt P48664) EAA4_HUMAN EAAT4 ENST00000221742.1 ENST00000221742.2 ENST00000221742.3 ENST00000221742.4 ENST00000221742.5 ENST00000221742.6 P48664 U18244 uc002naa.1 uc002naa.2 uc002naa.3 Transports L-glutamate and also L- and D-aspartate. Seems to act as a symport by cotransporting sodium. Membrane; Multi-pass membrane protein. Brain. Expressed densely and selectively in cell bodies of Purkinje cells. Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A6 subfamily. neurotransmitter uptake L-glutamate transmembrane transporter activity high-affinity glutamate transmembrane transporter activity Golgi apparatus plasma membrane integral component of plasma membrane ion transport amino acid transport chemical synaptic transmission glutamate secretion L-aspartate transmembrane transporter activity symporter activity aspartate transport L-glutamate transport membrane integral component of membrane regulation of membrane potential intermediate filament cytoskeleton metal ion binding L-aspartate transport L-glutamate import across plasma membrane glutamatergic synapse integral component of presynaptic membrane  uc002naa.1 uc002naa.2 uc002naa.3 
ENST00000221770.7 POP4 ENST00000221770.7 Homo sapiens POP4 homolog, ribonuclease P/MRP subunit (POP4), transcript variant 2, non-coding RNA. (from RefSeq NR_027368) A0A0A0MQS4 ENST00000221770.1 ENST00000221770.2 ENST00000221770.3 ENST00000221770.4 ENST00000221770.5 ENST00000221770.6 NR_027368 uc060wog.1 This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009].  uc060wog.1 
ENST00000221784.8 PDCD5 ENST00000221784.8 programmed cell death 5 (from HGNC PDCD5) AB209040 ENST00000221784.1 ENST00000221784.2 ENST00000221784.3 ENST00000221784.4 ENST00000221784.5 ENST00000221784.6 ENST00000221784.7 X6R2P6 uc060wrn.1  uc060wrn.1 
ENST00000221797.5 LGALS13 ENST00000221797.5 Homo sapiens galectin 13 (LGALS13), mRNA. (from RefSeq NM_013268) C5HZ15 ENST00000221797.1 ENST00000221797.2 ENST00000221797.3 ENST00000221797.4 NM_013268 PLAC8 PP13_HUMAN Q9UHV8 uc002omb.1 uc002omb.2 uc002omb.3 uc002omb.4 uc002omb.5 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC066304.1, CB995660.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149398, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221797.5/ ENSP00000221797.3 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## Has lysophospholipase activity. 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate. Homodimer; disulfide-linked. Detected in adult and fetal spleen, fetal kidney, adult urinary bladder and placenta. Placental expression originates predominantly from the syncytiotrophoblast. Contains 1 galectin domain. lysophospholipase activity protein binding nucleus cytoplasm phospholipid metabolic process apoptotic process nuclear matrix carbohydrate binding positive regulation of T cell apoptotic process  uc002omb.1 uc002omb.2 uc002omb.3 uc002omb.4 uc002omb.5 
ENST00000221801.8 FBL ENST00000221801.8 Homo sapiens fibrillarin (FBL), mRNA. (from RefSeq NM_001436) B5BUE8 ENST00000221801.1 ENST00000221801.2 ENST00000221801.3 ENST00000221801.4 ENST00000221801.5 ENST00000221801.6 ENST00000221801.7 FBRL_HUMAN FIB1 FLRN NM_001436 O75259 P22087 Q6IAT5 Q9UPI6 uc002omn.1 uc002omn.2 uc002omn.3 uc002omn.4 uc002omn.5 This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC019260.1, SRR1163658.428476.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221801.8/ ENSP00000221801.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the site-specific 2'- hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in base pairing with the guide RNA. Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles that contain NHP2L1, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X and Y small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20. Interacts with DDX5. P17844:DDX5; NbExp=6; IntAct=EBI-358318, EBI-351962; Nucleus, nucleolus. Note=Fibrillar region of the nucleolus. By homology to other fibrillarins, some or all of the N- terminal domain arginines are modified to asymmetric dimethylarginine (DMA). Belongs to the methyltransferase superfamily. Fibrillarin family. box C/D snoRNA 3'-end processing TFIID-class transcription factor binding osteoblast differentiation fibrillar center dense fibrillar component granular component RNA binding protein binding nucleus nucleoplasm chromosome nucleolus rRNA processing methyltransferase activity rRNA methyltransferase activity Cajal body membrane snoRNA metabolic process transferase activity rRNA methylation box C/D snoRNP complex small-subunit processome methylation snoRNA localization ATPase binding extracellular exosome histone glutamine methylation histone-glutamine methyltransferase activity  uc002omn.1 uc002omn.2 uc002omn.3 uc002omn.4 uc002omn.5 
ENST00000221804.5 CLC ENST00000221804.5 Homo sapiens Charcot-Leyden crystal galectin (CLC), mRNA. (from RefSeq NM_001828) ENST00000221804.1 ENST00000221804.2 ENST00000221804.3 ENST00000221804.4 LPPL_HUMAN NM_001828 Q05315 Q0VDE3 uc002omh.1 uc002omh.2 uc002omh.3 uc002omh.4 uc002omh.5 Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AV715152.1, AV714984.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221804.5/ ENSP00000221804.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May have both lysophospholipase and carbohydrate-binding activities. 2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate. Cytoplasmic granule. Note=Localized in granules from where it may be secreted or transported to other locations in the cell. Expressed exclusively by eosinophils and basophils. Not detected in monocytes and neutrophils. Forms hexagonal bipyramidal crystals, known as Charcot-Leyden crystals, in tissues and secretions from sites of eosinophil-associated inflammation and some myeloid leukemias. Contains 1 galectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Galectin-10; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Stlect_277"; regulation of T cell anergy regulation of T cell cytokine production protein binding cytoplasm cytosol multicellular organism development carbohydrate binding identical protein binding regulation of activated T cell proliferation T cell apoptotic process cysteine-type endopeptidase activity involved in apoptotic process lysophospholipase activity  uc002omh.1 uc002omh.2 uc002omh.3 uc002omh.4 uc002omh.5 
ENST00000221818.5 CCNP ENST00000221818.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H8S5-1; Sequence=Displayed; Name=2; IsoId=Q9H8S5-2; Sequence=VSP_044165, VSP_044166, VSP_044167; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; (from UniProt Q9H8S5) AK023327 B4DX65 CNTD2 CNTD2_HUMAN ENST00000221818.1 ENST00000221818.2 ENST00000221818.3 ENST00000221818.4 Q9H8S5 uc060ypj.1 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H8S5-1; Sequence=Displayed; Name=2; IsoId=Q9H8S5-2; Sequence=VSP_044165, VSP_044166, VSP_044167; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Contains 1 cyclin N-terminal domain. regulation of cyclin-dependent protein serine/threonine kinase activity cyclin-dependent protein kinase holoenzyme complex nucleus cytoplasm centrosome protein phosphorylation cyclin-dependent protein serine/threonine kinase regulator activity protein kinase binding mitotic cell cycle phase transition protein kinase activity  uc060ypj.1 
ENST00000221847.6 EBI3 ENST00000221847.6 Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA. (from RefSeq NM_005755) A0N0N2 ENST00000221847.1 ENST00000221847.2 ENST00000221847.3 ENST00000221847.4 ENST00000221847.5 IL27B IL27B_HUMAN NM_005755 O75269 Q14213 uc002lzu.1 uc002lzu.2 uc002lzu.3 uc002lzu.4 uc002lzu.5 This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC015364.1, SRR1163657.205051.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221847.6/ ENSP00000221847.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Cytokine with pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon- gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR. Another important role of IL27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines. Heterodimer with IL27. IL-27 is a heterodimer composed IL27 and EBI3. EBI3 is also a component of the IL-12 heterodimer. Interacts with SQSTM1. Secreted. By Epstein-Barr virus (EBV). Belongs to the type I cytokine receptor family. Type 3 subfamily. Contains 2 fibronectin type-III domains. Name=Wikipedia; Note=Interleukin-27 entry; URL="http://en.wikipedia.org/wiki/Interleukin_27"; cytokine receptor activity cytokine activity protein binding extracellular region extracellular space endoplasmic reticulum lumen plasma membrane humoral immune response external side of plasma membrane membrane cytokine binding T-helper 1 type immune response T cell proliferation receptor complex positive regulation of interferon-gamma biosynthetic process interleukin-27 receptor binding positive regulation of alpha-beta T cell proliferation interleukin-27-mediated signaling pathway interleukin-35-mediated signaling pathway  uc002lzu.1 uc002lzu.2 uc002lzu.3 uc002lzu.4 uc002lzu.5 
ENST00000221855.8 TBCB ENST00000221855.8 Homo sapiens tubulin folding cofactor B (TBCB), transcript variant 3, non-coding RNA. (from RefSeq NR_155756) CG22 CKAP1 ENST00000221855.1 ENST00000221855.2 ENST00000221855.3 ENST00000221855.4 ENST00000221855.5 ENST00000221855.6 ENST00000221855.7 NR_155756 O00111 O00674 O14728 Q99426 TBCB_HUMAN uc002odg.1 uc002odg.2 uc002odg.3 Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer. Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth. Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state. Cofactors B and E can form a heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers. Binds to GAN. Q9H2C0:GAN; NbExp=3; IntAct=EBI-764356, EBI-764342; Q93009:USP7; NbExp=2; IntAct=EBI-764356, EBI-302474; Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. In differentiated neurons, located in the cytoplasm. In differentiating neurons, accumulates at the growth cone. Found in most tissues. Phosphorylation by PAK1 is required for normal function. Phosphorylated upon DNA damage, probably by ATM or ATR. Ubiquitinated in the presence of GAN which targets it for degradation by the proteasome (By similarity). Belongs to the TBCB family. Contains 1 CAP-Gly domain. Sequence=AAB51182.1; Type=Erroneous gene model prediction; protein binding cytoplasm cytosol cytoskeleton microtubule multicellular organism development nervous system development microtubule cytoskeleton cell differentiation  uc002odg.1 uc002odg.2 uc002odg.3 
ENST00000221856.11 FSD1 ENST00000221856.11 Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), transcript variant 1, mRNA. (from RefSeq NM_024333) B2RDT0 ENST00000221856.1 ENST00000221856.10 ENST00000221856.2 ENST00000221856.3 ENST00000221856.4 ENST00000221856.5 ENST00000221856.6 ENST00000221856.7 ENST00000221856.8 ENST00000221856.9 FSD1_HUMAN GLFND MIR1 NM_024333 Q9BTV5 Q9BXN0 Q9HAG4 VLP27 uc002lzy.1 uc002lzy.2 uc002lzy.3 uc002lzy.4 This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.965954.1, SRR3476690.765012.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221856.11/ ENSP00000221856.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in microtubule organization and stabilization. Oligomerization is required for binding to microtubules. Cytoplasm, cytoskeleton, centrosome. Nucleus. Cytoplasm. Cleavage furrow. Note=Cell-cycle-dependent association with the centrosome. Colocalizes with a subpopulation of microtubules. Does not associates with microtubules during mitosis but reassociates with microtubules during cytokinesis. Localizes to the central portions of a small subset of microtubules in interphase cells and a subpopulation of microtubules in the cleavage furrow, not present in the mitotic spindle. Highly expressed in brain tissues, including cerebellum, cerebral cortex, medulla, occipital pole, frontal lobe, temporal lobe and putamen. Lower expression in spinal chord. B30.2 box contains a microtubule-binding site. Contains 1 B30.2/SPRY domain. Contains 1 COS domain. Contains 1 fibronectin type-III domain. nucleus cytoplasm centrosome microtubule organizing center cytoskeleton microtubule cell cycle microtubule binding cytoplasmic microtubule organization cleavage furrow regulation of cytokinesis protein homodimerization activity protein homooligomerization cell division regulation of cell division regulation of mitotic spindle organization  uc002lzy.1 uc002lzy.2 uc002lzy.3 uc002lzy.4 
ENST00000221859.9 POLR2I ENST00000221859.9 Homo sapiens RNA polymerase II subunit I (POLR2I), mRNA. (from RefSeq NM_006233) B2R5J2 ENST00000221859.1 ENST00000221859.2 ENST00000221859.3 ENST00000221859.4 ENST00000221859.5 ENST00000221859.6 ENST00000221859.7 ENST00000221859.8 NM_006233 P36954 Q6NW05 RPB9_HUMAN uc002ode.1 uc002ode.2 uc002ode.3 uc002ode.4 uc002ode.5 This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC017112.1, SRR1163655.549868.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221859.9/ ENSP00000221859.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity). Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. Nucleus. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family. Contains 1 TFIIS-type zinc finger. mRNA splicing, via spliceosome maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter nucleic acid binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase II, core complex nucleolus transcription-coupled nucleotide-excision repair transcription, DNA-templated transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping mRNA cleavage zinc ion binding fibroblast growth factor receptor signaling pathway RNA metabolic process somatic stem cell population maintenance snRNA transcription from RNA polymerase II promoter metal ion binding positive regulation of viral transcription regulation of gene silencing by miRNA  uc002ode.1 uc002ode.2 uc002ode.3 uc002ode.4 uc002ode.5 
ENST00000221891.9 APLP1 ENST00000221891.9 Homo sapiens amyloid beta precursor like protein 1 (APLP1), transcript variant 1, mRNA. (from RefSeq NM_001024807) APLP1_HUMAN ENST00000221891.1 ENST00000221891.2 ENST00000221891.3 ENST00000221891.4 ENST00000221891.5 ENST00000221891.6 ENST00000221891.7 ENST00000221891.8 NM_001024807 O00113 P51693 Q96A92 uc002ocf.1 uc002ocf.2 uc002ocf.3 uc002ocf.4 uc002ocf.5 This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to amyloid beta A4 precursor protein cleavage. This cleavage liberates an intracellular cytoplasmic fragment that may act as a transcriptional activator. The encoded protein may also play a role in synaptic maturation during cortical development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I. The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis (By similarity). Monomer and homodimer. Heparin binding promotes homodimerization. Binds, via its C-terminus, to the PID domain of several cytoplasmic proteins, including APBB and APBA family members, MAPK8IP1 and Dab1 (By similarity). Binding to Dab1 inhibits its serine phosphorylation (By similarity). Interacts with CPEB1. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts (via NPXY motif) with DAB1 (By similarity). Self; NbExp=3; IntAct=EBI-74648, EBI-74648; Q06481:APLP2; NbExp=2; IntAct=EBI-74648, EBI-79306; P05067-4:APP; NbExp=2; IntAct=EBI-74648, EBI-302641; P17028:ZNF24; NbExp=2; IntAct=EBI-74648, EBI-707773; Cell membrane; Single-pass type I membrane protein. C30: Cytoplasm. Note=C-terminally processed in the Golgi complex. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51693-1; Sequence=Displayed; Name=2; IsoId=P51693-2; Sequence=VSP_039100; Expressed in the cerebral cortex where it is localized to the postsynaptic density (PSD). The NPXY sequence motif found in many tyrosine- phosphorylated proteins is required for the specific binding of the PID domain. However, additional amino acids either N- or C- terminal to the NPXY motif are often required for complete interaction. The NPXY site is also involved in clathrin-mediated endocytosis. Proteolytically cleaved by caspases during neuronal apoptosis. Cleaved, in vitro, at Asp-620 by caspase-3 (By similarity). N- and O-glycosylated. O-glycosylation with core 1 or possibly core 8 glycans. Glycosylation on Ser-227 is the preferred site to Thr-228. Binds zinc and copper in the extracellular domain. Zinc-binding increases heparin binding. No Cu(2+) reducing activity with copper-binding. Belongs to the APP family. protein binding basement membrane cytoplasm plasma membrane endocytosis apoptotic process cell adhesion nervous system development heparin binding animal organ morphogenesis membrane integral component of membrane alpha-2A adrenergic receptor binding alpha-2B adrenergic receptor binding alpha-2C adrenergic receptor binding identical protein binding metal ion binding transition metal ion binding perinuclear region of cytoplasm cellular response to norepinephrine stimulus  uc002ocf.1 uc002ocf.2 uc002ocf.3 uc002ocf.4 uc002ocf.5 
ENST00000221899.7 CACTIN ENST00000221899.7 Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing. (from UniProt Q8WUQ7) A6NNA9 A9UL12 AY917150 C19orf29 CATIN_HUMAN ENST00000221899.1 ENST00000221899.2 ENST00000221899.3 ENST00000221899.4 ENST00000221899.5 ENST00000221899.6 O75229 Q7LE08 Q8WUQ7 Q9BTA6 Q9Y5A4 uc060rrj.1 Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing. Interacts (via N-terminus domain) with NFKBIL1; the interaction occurs in a proinflammatory-independent manner. Does not interact with RELA NF-kappa-B subunit. Identified in the spliceosome C complex. Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with NFKBIL1 in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUQ7-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=2; IsoId=Q8WUQ7-2; Sequence=VSP_017856; Note=No experimental confirmation available; Antigen recognized by autologous antibody in patients with renal-cell carcinoma. Belongs to the CACTIN family. An ORF (C19orf029 OS) has been described in the opposite strand of the C-terminus of this gene. Sequence=AAC24305.1; Type=Erroneous gene model prediction; Sequence=AAC32903.1; Type=Erroneous gene model prediction; Sequence=AAD42868.1; Type=Frameshift; Positions=711; Sequence=AAH04262.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW69298.1; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome negative regulation of protein phosphorylation immune system process RNA binding protein binding nucleus nucleoplasm spliceosomal complex cytosol mRNA processing multicellular organism development RNA splicing nuclear speck negative regulation of lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity negative regulation of interferon-beta production negative regulation of interleukin-8 production negative regulation of tumor necrosis factor production negative regulation of toll-like receptor signaling pathway innate immune response negative regulation of type I interferon-mediated signaling pathway catalytic step 2 spliceosome cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor  uc060rrj.1 
ENST00000221905.1 ARHGAP33 ENST00000221905.1 Rho GTPase activating protein 33 (from HGNC ARHGAP33) AY044864 uc010eek.1 uc010eek.2 uc010eek.3  uc010eek.1 uc010eek.2 uc010eek.3 
ENST00000221922.11 CCDC9 ENST00000221922.11 Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA. (from RefSeq NM_015603) CCDC9_HUMAN ENST00000221922.1 ENST00000221922.10 ENST00000221922.2 ENST00000221922.3 ENST00000221922.4 ENST00000221922.5 ENST00000221922.6 ENST00000221922.7 ENST00000221922.8 ENST00000221922.9 NM_015603 Q9Y3X0 uc010xym.1 uc010xym.2 uc010xym.3 uc010xym.4 RNA binding protein binding  uc010xym.1 uc010xym.2 uc010xym.3 uc010xym.4 
ENST00000221930.6 TGFB1 ENST00000221930.6 Homo sapiens transforming growth factor beta 1 (TGFB1), mRNA. (from RefSeq NM_000660) A0A499FJK2 ENST00000221930.1 ENST00000221930.2 ENST00000221930.3 ENST00000221930.4 ENST00000221930.5 NM_000660 uc002oqh.1 uc002oqh.2 uc002oqh.3 uc002oqh.4 uc002oqh.5 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X02812.1, SRR3476690.819241.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2142670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221930.6/ ENSP00000221930.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##  uc002oqh.1 uc002oqh.2 uc002oqh.3 uc002oqh.4 uc002oqh.5 
ENST00000221943.14 DMAC2 ENST00000221943.14 Homo sapiens distal membrane arm assembly complex 2 (DMAC2), transcript variant 15, non-coding RNA. (from RefSeq NR_135478) AT5SL_HUMAN ATP5SL B4DDC0 ENST00000221943.1 ENST00000221943.10 ENST00000221943.11 ENST00000221943.12 ENST00000221943.13 ENST00000221943.2 ENST00000221943.3 ENST00000221943.4 ENST00000221943.5 ENST00000221943.6 ENST00000221943.7 ENST00000221943.8 ENST00000221943.9 NR_135478 Q96D43 Q9NW81 uc002oqw.1 uc002oqw.2 uc002oqw.3 uc002oqw.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NW81-1; Sequence=Displayed; Name=2; IsoId=Q9NW81-2; Sequence=VSP_031270, VSP_031271; Note=No experimental confirmation available; Name=3; IsoId=Q9NW81-3; Sequence=VSP_043807, VSP_031271; Belongs to the ATP synthase subunit s family. mitochondrion ubiquitin-dependent protein catabolic process protein ubiquitination SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process mitochondrial respiratory chain complex I assembly mitochondrial respiratory chain complex I ubiquitin-protein transferase activity  uc002oqw.1 uc002oqw.2 uc002oqw.3 uc002oqw.4 
ENST00000221954.7 CEACAM4 ENST00000221954.7 Homo sapiens CEA cell adhesion molecule 4 (CEACAM4), transcript variant 1, mRNA. (from RefSeq NM_001817) CEAM4_HUMAN CGM7 ENST00000221954.1 ENST00000221954.2 ENST00000221954.3 ENST00000221954.4 ENST00000221954.5 ENST00000221954.6 NM_001817 O75871 Q03715 Q7LDZ7 uc002orh.1 uc002orh.2 Membrane; Single-pass type I membrane protein. Granulocytes. N-glycosylated. Belongs to the immunoglobulin superfamily. CEA family. Contains 1 Ig-like V-type (immunoglobulin-like) domain. integral component of plasma membrane phagocytosis membrane integral component of membrane  uc002orh.1 uc002orh.2 
ENST00000221957.9 PLIN3 ENST00000221957.9 Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA. (from RefSeq NM_005817) A8K4Y9 ENST00000221957.1 ENST00000221957.2 ENST00000221957.3 ENST00000221957.4 ENST00000221957.5 ENST00000221957.6 ENST00000221957.7 ENST00000221957.8 M6PRBP1 NM_005817 O60664 PLIN3_HUMAN Q53G77 Q9BS03 Q9UBD7 Q9UP92 TIP47 uc002mbj.1 uc002mbj.2 uc002mbj.3 uc002mbj.4 Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]. Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network. Homooligomer. Interacts with M6PR (via the cytoplasmic domain). Interacts with IGF2R (via the cytoplasmic domain). Isoform 2 may exist as a homodimer (known as PP17C). O94955:RHOBTB3; NbExp=1; IntAct=EBI-725795, EBI-2367123; Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side (Potential). Lipid droplet (Potential). Note=Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60664-1; Sequence=Displayed; Note=PP17b; Name=2; IsoId=O60664-2; Sequence=VSP_004664; Note=PP17a; Name=3; IsoId=O60664-3; Sequence=VSP_040325; Belongs to the perilipin family. protein binding cytoplasm endosome Golgi apparatus lipid particle cytosol endosome membrane membrane vesicle-mediated transport transport vesicle cadherin binding  uc002mbj.1 uc002mbj.2 uc002mbj.3 uc002mbj.4 
ENST00000221972.8 CD79A ENST00000221972.8 Homo sapiens CD79a molecule (CD79A), transcript variant 1, mRNA. (from RefSeq NM_001783) A0N775 CD79A_HUMAN ENST00000221972.1 ENST00000221972.2 ENST00000221972.3 ENST00000221972.4 ENST00000221972.5 ENST00000221972.6 ENST00000221972.7 IGA MB1 NM_001783 P11912 Q53FB8 uc002orv.1 uc002orv.2 uc002orv.3 uc002orv.4 The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src- family tyrosine kinases. Represses BCR signaling during development of immature B-cells. Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the alpha/beta chain heterodimer is non-covalently associated with an antigen- specific membrane-bound surface immunoglobulin of two heavy chains and two light chains. Interacts through its phosphorylated ITAM domain with the SH2 domains of SYK which stimulates SYK autophosphorylation and activation. Also interacts, when phosphorylated on Tyr-210, with the SH2 domain of BLNK/SLP65, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK which is necessary for trafficking of the BCR to late endosomes. Interacts with Src-family tyrosine kinases including FYN and LYN, increasing their activity (By similarity). Cell membrane; Single-pass type I membrane protein. Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=P11912-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P11912-2; Sequence=VSP_002476; B-cells. Phosphorylated on tyrosine, serine and threonine residues upon B-cell activation. Phosphorylation of tyrosine residues by Src-family kinases is an early and essential feature of the BCR signaling cascade. The phosphorylated tyrosines serve as docking sites for SH2-domain containing kinases, leading to their activation which in turn leads to phosphorylation of downstream targets. Phosphorylated by LYN. Phosphorylation of serine and threonine residues may prevent subsequent tyrosine phosphorylation. Arginine methylation in the ITAM domain may interfere with the binding of SYK. It promotes signals leading to B cell differentiation (By similarity). Defects in CD79A are the cause of agammaglobulinemia type 3 (AGM3) [MIM:613501]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Note=Two different mutations, one at the splice donor site of intron 2 and the other at the splice acceptor site for exon 3, have been identified. Both mutations give rise to a truncated protein. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 ITAM domain. Name=CD79Abase; Note=CD79A mutation db; URL="http://bioinf.uta.fi/CD79Abase/"; adaptive immune response immune system process transmembrane signaling receptor activity protein binding multivesicular body plasma membrane cell surface receptor signaling pathway external side of plasma membrane membrane integral component of membrane B cell receptor complex B cell differentiation B cell proliferation B cell activation protein homodimerization activity membrane raft B cell receptor signaling pathway protein homotetramerization  uc002orv.1 uc002orv.2 uc002orv.3 uc002orv.4 
ENST00000221973.7 LIM2 ENST00000221973.7 Homo sapiens lens intrinsic membrane protein 2 (LIM2), transcript variant 1, mRNA. (from RefSeq NM_030657) ENST00000221973.1 ENST00000221973.2 ENST00000221973.3 ENST00000221973.4 ENST00000221973.5 ENST00000221973.6 LMIP_HUMAN NM_030657 P55344 Q6B083 Q9BXD0 Q9HAR5 uc002pwl.1 uc002pwl.2 uc002pwl.3 This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis. Seems to be associated with itself or another lens membrane component via disulfide bonds. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P55344-1; Sequence=Displayed; Name=2; Synonyms=MP19ins; IsoId=P55344-2; Sequence=VSP_005073; Eye lens specific. Belongs to the PMP-22/EMP/MP20 family. lens development in camera-type eye structural constituent of eye lens plasma membrane cell-cell junction assembly membrane integral component of membrane cell junction vesicle camera-type eye development  uc002pwl.1 uc002pwl.2 uc002pwl.3 
ENST00000221975.6 RPS19 ENST00000221975.6 ribosomal protein S19 (from HGNC RPS19) A0A075B6E2 BC000023 ENST00000221975.1 ENST00000221975.2 ENST00000221975.3 ENST00000221975.4 ENST00000221975.5 uc060zdf.1  uc060zdf.1 
ENST00000221978.10 NKG7 ENST00000221978.10 Homo sapiens natural killer cell granule protein 7 (NKG7), transcript variant 1, mRNA. (from RefSeq NM_005601) ENST00000221978.1 ENST00000221978.2 ENST00000221978.3 ENST00000221978.4 ENST00000221978.5 ENST00000221978.6 ENST00000221978.7 ENST00000221978.8 ENST00000221978.9 GIG1 NKG7_HUMAN NM_005601 Q16617 uc002pwj.1 uc002pwj.2 uc002pwj.3 uc002pwj.4 uc002pwj.5 Cell membrane; Multi-pass membrane protein. Cytoplasmic granule membrane; Multi-pass membrane protein. Note=Cytoplasmic granules of cytolytic T-lymphocytes, NK cells, and neutrophils. Expressed in activated T-cells, in kidney, liver, lung and pancreas. Not expressed in brain, heart, or skeletal muscle. Expressed at high levels in TCR gamma delta- expressing CTL clones, and in some TCR alpha beta-expressing CTL clones (both CD4+ and CD8+), but is not expressed in other TCR alpha beta-expressing CTL clones and in cell lines representing B- cells, monocytes, and myeloid cells. By CSF3/G-CSF. Belongs to the PMP-22/EMP/MP20 family. protein binding plasma membrane integral component of plasma membrane membrane integral component of membrane  uc002pwj.1 uc002pwj.2 uc002pwj.3 uc002pwj.4 uc002pwj.5 
ENST00000221980.5 ICAM5 ENST00000221980.5 Homo sapiens intercellular adhesion molecule 5 (ICAM5), mRNA. (from RefSeq NM_003259) ENST00000221980.1 ENST00000221980.2 ENST00000221980.3 ENST00000221980.4 ICAM5_HUMAN NM_003259 Q9UMF0 Q9Y6F3 TLCN TLN uc002mnu.1 uc002mnu.2 uc002mnu.3 uc002mnu.4 uc002mnu.5 uc002mnu.6 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC026338.1, U72671.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154665, SAMN02400288 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221980.5/ ENSP00000221980.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). Membrane; Single-pass type I membrane protein. Expressed on neurons in the most rostral segment of the mammalian brain, the telencephalon. Glycosylation at Asn-54 is critical for functional folding (By similarity). Belongs to the immunoglobulin superfamily. ICAM family. Contains 9 Ig-like C2-type (immunoglobulin-like) domains. integrin binding protein binding plasma membrane integral component of plasma membrane phagocytosis cell adhesion membrane integral component of membrane extracellular matrix organization regulation of immune response cell-cell adhesion  uc002mnu.1 uc002mnu.2 uc002mnu.3 uc002mnu.4 uc002mnu.5 uc002mnu.6 
ENST00000221992.11 CEACAM5 ENST00000221992.11 Homo sapiens CEA cell adhesion molecule 5 (CEACAM5), transcript variant 1, mRNA. (from RefSeq NM_004363) CEA CEAM5_HUMAN ENST00000221992.1 ENST00000221992.10 ENST00000221992.2 ENST00000221992.3 ENST00000221992.4 ENST00000221992.5 ENST00000221992.6 ENST00000221992.7 ENST00000221992.8 ENST00000221992.9 NM_004363 P06731 uc002orl.1 uc002orl.2 uc002orl.3 uc002orl.4 uc002orl.5 This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. Cell surface glycoprotein that plays a role in cell adhesion and in intracellular signaling. Receptor for E.coli Dr adhesins. Homodimer. Binding of E.coli Dr adhesins leads to dissociation of the homodimer. Cell membrane; Lipid-anchor, GPI-anchor. Found in adenocarcinomas of endodermally derived digestive system epithelium and fetal colon. Complex immunoreactive glycoprotein with a MW of 180 kDa comprising 60% carbohydrate. Belongs to the immunoglobulin superfamily. CEA family. Contains 7 Ig-like (immunoglobulin-like) domains. Sequence=AAA62835.1; Type=Frameshift; Positions=359, 361; extracellular region plasma membrane integral component of plasma membrane apoptotic process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules cell surface negative regulation of myotube differentiation membrane basolateral plasma membrane apical plasma membrane anchored component of membrane homotypic cell-cell adhesion GPI anchor binding identical protein binding protein homodimerization activity negative regulation of apoptotic process leukocyte migration extracellular exosome integral component of external side of plasma membrane negative regulation of anoikis  uc002orl.1 uc002orl.2 uc002orl.3 uc002orl.4 uc002orl.5 
ENST00000221996.12 CRX ENST00000221996.12 Homo sapiens cone-rod homeobox (CRX), mRNA. (from RefSeq NM_000554) CORD2 CRX_HUMAN ENST00000221996.1 ENST00000221996.10 ENST00000221996.11 ENST00000221996.2 ENST00000221996.3 ENST00000221996.4 ENST00000221996.5 ENST00000221996.6 ENST00000221996.7 ENST00000221996.8 ENST00000221996.9 NM_000554 O43186 uc002phq.1 uc002phq.2 uc002phq.3 uc002phq.4 uc002phq.5 uc002phq.6 The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BQ423938.1, BU187765.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000221996.12/ ENSP00000221996.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. Interacts with SCA7 (By similarity). Interacts with RAX2. Interacts (via the homeobox) with NRL (via the leucine-zipper domain). Interacts with PDC. Nucleus (By similarity). Retina. Defects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7) [MIM:613829]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2) [MIM:120970]; also known as cone-rod retinal dystrophy 2 (CRD2). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Defects in CRX are a cause of retinitis pigmentosa (RP) [MIM:268000]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Name=Mutations of the CRX gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/crxmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRX"; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development nervous system development visual perception circadian rhythm animal organ morphogenesis cell differentiation nuclear hormone receptor binding leucine zipper domain binding sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of photoreceptor cell differentiation response to stimulus  uc002phq.1 uc002phq.2 uc002phq.3 uc002phq.4 uc002phq.5 uc002phq.6 
ENST00000222002.4 SULT2A1 ENST00000222002.4 Homo sapiens sulfotransferase family 2A member 1 (SULT2A1), mRNA. (from RefSeq NM_003167) ENST00000222002.1 ENST00000222002.2 ENST00000222002.3 HST NM_003167 Q06520 ST2A1_HUMAN STD uc002phr.1 uc002phr.2 uc002phr.3 This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020755.1, SRR5189664.117161.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2155590, SAMN03267753 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222002.4/ ENSP00000222002.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands. 3'-phosphoadenylyl sulfate + glycolithocholate = adenosine 3',5'-bisphosphate + glycolithocholate 3-sulfate. 3'-phosphoadenylyl sulfate + taurolithocholate = adenosine 3',5'-bisphosphate + taurolithocholate sulfate. Homodimer. P40763:STAT3; NbExp=2; IntAct=EBI-3921363, EBI-518675; Cytoplasm. Liver, adrenal and at lower level in the kidney. Is present in human fetus in higher level in the adrenal than the liver and the kidney. The N-terminus is blocked. Estrogens present in maternal circulation is predominantly derived from fetal dehydroepiandosterone sulfate which is hydrolyzed and metabolized to estrogens in placenta. Belongs to the sulfotransferase 1 family. protein binding cytoplasm cytosol ethanol catabolic process lipid metabolic process sulfotransferase activity steroid metabolic process lipid catabolic process transferase activity regulation of lipid metabolic process bile acid catabolic process bile-salt sulfotransferase activity steroid sulfotransferase activity 3'-phosphoadenosine 5'-phosphosulfate metabolic process sulfation  uc002phr.1 uc002phr.2 uc002phr.3 
ENST00000222005.7 CDC37 ENST00000222005.7 Homo sapiens cell division cycle 37, HSP90 cochaperone (CDC37), mRNA. (from RefSeq NM_007065) CDC37A CDC37_HUMAN ENST00000222005.1 ENST00000222005.2 ENST00000222005.3 ENST00000222005.4 ENST00000222005.5 ENST00000222005.6 NM_007065 Q16543 Q53YA2 uc002mof.1 uc002mof.2 uc002mof.3 The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1159146.1, SRR3476690.452014.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222005.7/ ENSP00000222005.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity. Forms a complex with Hsp90/HSP90AB1 and CDK6. Interacts with AR, CDK4, CDK6, EIF2AK1 and RB1. P11500:- (xeno); NbExp=3; IntAct=EBI-295634, EBI-640126; P31749:AKT1; NbExp=2; IntAct=EBI-295634, EBI-296087; P02649:APOE; NbExp=3; IntAct=EBI-295634, EBI-1222467; P11802:CDK4; NbExp=5; IntAct=EBI-295634, EBI-295644; Q00534:CDK6; NbExp=2; IntAct=EBI-295634, EBI-295663; P33279:EIF2AK1 (xeno); NbExp=3; IntAct=EBI-295634, EBI-640100; O14879:IFIT3; NbExp=4; IntAct=EBI-295634, EBI-745127; P29474:NOS3; NbExp=4; IntAct=EBI-295634, EBI-1391623; P53041:PPP5C; NbExp=2; IntAct=EBI-295634, EBI-716663; P49768:PSEN1; NbExp=3; IntAct=EBI-295634, EBI-297277; Cytoplasm. Constitutively sumoylated by UBE2I. Belongs to the CDC37 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc37/"; regulation of cyclin-dependent protein serine/threonine kinase activity protein binding cytoplasm cytosol protein folding protein targeting posttranscriptional regulation of gene expression protein kinase regulator activity kinase binding protein kinase binding heat shock protein binding ERBB2 signaling pathway regulation of protein kinase activity protein stabilization unfolded protein binding chaperone binding Hsp90 protein binding regulation of interferon-gamma-mediated signaling pathway regulation of type I interferon-mediated signaling pathway extracellular exosome scaffold protein binding mitophagy in response to mitochondrial depolarization HSP90-CDC37 chaperone complex  uc002mof.1 uc002mof.2 uc002mof.3 
ENST00000222008.11 RABAC1 ENST00000222008.11 Homo sapiens Rab acceptor 1 (RABAC1), mRNA. (from RefSeq NM_006423) ENST00000222008.1 ENST00000222008.10 ENST00000222008.2 ENST00000222008.3 ENST00000222008.4 ENST00000222008.5 ENST00000222008.6 ENST00000222008.7 ENST00000222008.8 ENST00000222008.9 NM_006423 PRA1 PRAF1 PRAF1_HUMAN Q7Z4Y2 Q9UI14 Q9Y3R1 uc002osf.1 uc002osf.2 uc002osf.3 uc002osf.4 uc002osf.5 General Rab protein regulator required for vesicle formation from the Golgi complex. May control vesicle docking and fusion by mediating the action of Rab GTPases to the SNARE complexes. In addition it inhibits the removal of Rab GTPases from the membrane by GDI (By similarity). Homodimer. Interacts with VAMP2 (synaptobrevin-2), GDI1, and PCLO (By similarity). Interacts specifically with prenylated Rab proteins; strongly with RAB4B, RAB5A and RAB5C, and weakly with RAB4A, RAB6, RAB7A, RAB17 and RAB22. Interacts with NDRG1. Self; NbExp=4; IntAct=EBI-712367, EBI-712367; P51116:FXR2; NbExp=3; IntAct=EBI-712367, EBI-740459; Q9GZT8:NIF3L1; NbExp=3; IntAct=EBI-712367, EBI-740897; Q6ZVK8:NUDT18; NbExp=3; IntAct=EBI-712367, EBI-740486; Q9H8W4:PLEKHF2; NbExp=3; IntAct=EBI-712367, EBI-742388; Q14088:RAB33A; NbExp=3; IntAct=EBI-712367, EBI-744685; Q96C03:SMCR7; NbExp=3; IntAct=EBI-712367, EBI-750153; P37840:SNCA; NbExp=4; IntAct=EBI-712367, EBI-985879; Q96HA8:WDYHV1; NbExp=3; IntAct=EBI-712367, EBI-741158; Cell membrane; Multi-pass membrane protein (By similarity). Cytoplasm (By similarity). Golgi apparatus (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle (By similarity). Note=According to some authors, it is an integral membrane protein, while others showed that it is cytoplasmic and membrane-associated to Golgi and synaptic vesicles (By similarity). Ubiquitous. Strongest expression found in placenta, pituitary gland, kidney, lung and stomach. In fetal tissues, it is more abundant in kidney and lung. Belongs to the PRA1 family. In contrast to the mouse ortholog, it does not interact with Ras. protein binding cytoplasm Golgi apparatus plasma membrane synaptic vesicle protein C-terminus binding membrane integral component of membrane cell junction cytoplasmic vesicle identical protein binding synapse proline-rich region binding  uc002osf.1 uc002osf.2 uc002osf.3 uc002osf.4 uc002osf.5 
ENST00000222032.10 CNFN ENST00000222032.10 Homo sapiens cornifelin (CNFN), mRNA. (from RefSeq NM_032488) B2R569 CNFN_HUMAN ENST00000222032.1 ENST00000222032.2 ENST00000222032.3 ENST00000222032.4 ENST00000222032.5 ENST00000222032.6 ENST00000222032.7 ENST00000222032.8 ENST00000222032.9 NM_032488 Q9BYD5 uc002otp.1 uc002otp.2 uc002otp.3 uc002otp.4 uc002otp.5 uc002otp.6 Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. Directly or indirectly cross-linked to CE proteins loricin and involucrin (IVL). Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope (By similarity). Abundant in the cervix. Moderately abundant in the uterus and fetal skin. Expression is markedly increased in psoriatic skin (18.5 fold increase in comparison with normal skin) and its overexpression alters the protein composition of cornified cell envelope (CE), but does not affect keratinocyte differentiation. Expressed in the granular cell layer of epidermis in uninvolved psoriatic skin and in the psoriatic lesions it is found in the upper-spinous layer. Increased expression also seen in atopic dermatitis (14.3 fold increase in comparison with normal skin) and mycosis fungoides (4.6 fold increase in comparison with normal skin) and in both conditions expressed in the granular cell layer of epidermis. Belongs to the cornifelin family. cornified envelope cytoplasm keratinization  uc002otp.1 uc002otp.2 uc002otp.3 uc002otp.4 uc002otp.5 uc002otp.6 
ENST00000222033.6 ZNRF4 ENST00000222033.6 Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA. (from RefSeq NM_181710) A8K886 ENST00000222033.1 ENST00000222033.2 ENST00000222033.3 ENST00000222033.4 ENST00000222033.5 NM_181710 O75866 Q8WWF5 RNF204 ZNRF4_HUMAN uc002mca.1 uc002mca.2 uc002mca.3 uc002mca.4 uc002mca.5 uc002mca.6 Membrane; Single-pass type I membrane protein (Potential). Contains 1 PA (protease associated) domain. Contains 1 RING-type zinc finger. protein binding lysosomal membrane endoplasmic reticulum endoplasmic reticulum membrane ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity  uc002mca.1 uc002mca.2 uc002mca.3 uc002mca.4 uc002mca.5 uc002mca.6 
ENST00000222115.5 HAS1 ENST00000222115.5 Homo sapiens hyaluronan synthase 1 (HAS1), transcript variant 1, mRNA. (from RefSeq NM_001523) ENST00000222115.1 ENST00000222115.2 ENST00000222115.3 ENST00000222115.4 HAS HAS1_HUMAN NM_001523 Q14470 Q92839 Q9NS49 uc002pxo.1 Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. Plays a role in hyaluronan/hyaluronic acid (HA) synthesis. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate. UDP-alpha-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan) = UDP + N-acetyl-beta-D-glucosaminyl-(1->4)-beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-(nascent hyaluronan). UDP-alpha-D-glucuronate + N-acetyl-beta-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan) = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-(nascent hyaluronan). Magnesium. Glycan biosynthesis; hyaluronan biosynthesis. P56537:EIF6; NbExp=1; IntAct=EBI-1052423, EBI-372243; P40337:VHL; NbExp=1; IntAct=EBI-1052423, EBI-301246; Membrane; Multi-pass membrane protein (Probable). Highly expressed in ovary followed by spleen, thymus, prostate, testes and large intestine. Weakly expressed in small intestine. Belongs to the NodC/HAS family. Sequence=BAA12351.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; protein binding cytoplasm plasma membrane integral component of plasma membrane glycosaminoglycan biosynthetic process cell adhesion negative regulation of fibroblast migration membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups hyaluronan biosynthetic process cellular response to platelet-derived growth factor stimulus identical protein binding estrous cycle extracellular polysaccharide biosynthetic process hyaluronan synthase activity extracellular matrix assembly  uc002pxo.1 
ENST00000222120.8 RAB3D ENST00000222120.8 Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA. (from RefSeq NM_004283) ENST00000222120.1 ENST00000222120.2 ENST00000222120.3 ENST00000222120.4 ENST00000222120.5 ENST00000222120.6 ENST00000222120.7 GOV NM_004283 O95716 RAB16 RAB3D_HUMAN uc002mqx.1 uc002mqx.2 uc002mqx.3 uc002mqx.4 Protein transport. Probably involved in regulated exocytosis (By similarity). Binds RIMS1. Interacts with RAB3IP (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Highly expressed in granulocytes of peripheral blood. Constitutively expressed at low levels in all hematopoietic cell lines investigated. Activated in myeloid differentiation. Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity GTP binding endosome cytoplasmic microtubule plasma membrane intracellular protein transport exocytosis vesicle docking involved in exocytosis synaptic vesicle protein secretion protein transport membrane regulation of exocytosis peptidyl-cysteine methylation transport vesicle GTP-dependent protein binding myosin V binding vesicle Rab protein signal transduction azurophil granule membrane zymogen granule neutrophil degranulation bone resorption extracellular exosome protein localization to plasma membrane secretory vesicle positive regulation of regulated secretory pathway  uc002mqx.1 uc002mqx.2 uc002mqx.3 uc002mqx.4 
ENST00000222122.10 DBP ENST00000222122.10 Homo sapiens D-box binding PAR bZIP transcription factor (DBP), mRNA. (from RefSeq NM_001352) A2I2P4 DBP_HUMAN ENST00000222122.1 ENST00000222122.2 ENST00000222122.3 ENST00000222122.4 ENST00000222122.5 ENST00000222122.6 ENST00000222122.7 ENST00000222122.8 ENST00000222122.9 NM_001352 Q10586 uc002pjx.1 uc002pjx.2 uc002pjx.3 uc002pjx.4 uc002pjx.5 uc002pjx.6 The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.333055.1, SRR7346977.851635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222122.10/ ENSP00000222122.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## This transcriptional activator recognizes and binds to the sequence 5'-RTTAYGTAAY-3' found in the promoter of genes such as albumin, CYP2A4 and CYP2A5. It is not essential for circadian rhythm generation, but modulates important clock output genes. May be a direct target for regulation by the circadian pacemaker component clock. May affect circadian period and sleep regulation. Binds DNA as a homodimer or a heterodimer. Can form a heterodimer with TEF. Nucleus. Ubiquitously expressed. Expressed in the suprachiasmatic nuclei (SCN) and in most peripheral tissues, with a strong circadian rhythmicity. Belongs to the bZIP family. PAR subfamily. Contains 1 bZIP (basic-leucine zipper) domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding liver development DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter circadian rhythm positive regulation of transcription from RNA polymerase II promoter rhythmic process  uc002pjx.1 uc002pjx.2 uc002pjx.3 uc002pjx.4 uc002pjx.5 uc002pjx.6 
ENST00000222139.11 EPOR ENST00000222139.11 Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. (from RefSeq NM_000121) B2RCG4 ENST00000222139.1 ENST00000222139.10 ENST00000222139.2 ENST00000222139.3 ENST00000222139.4 ENST00000222139.5 ENST00000222139.6 ENST00000222139.7 ENST00000222139.8 ENST00000222139.9 EPOR_HUMAN NM_000121 P19235 Q15443 Q2M205 uc002mrj.1 uc002mrj.2 uc002mrj.3 uc002mrj.4 This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]. Receptor for erythropoietin. Mediates erythropoietin- induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase. Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling. Forms homodimers on EPO stimulation. The tyrosine- phosphorylated form interacts with several SH2 domain-containing proteins including LYN (By similarity), the adapter protein APS, PTPN6 (By similarity), PTPN11, JAK2, PI3 kinases, STAT5A/B, SOCS3, CRKL (By similarity). Interacts with INPP5D/SHIP1 (By similarity). The N-terminal SH2 domain of PTPN6 binds Tyr-454 and inhibits signaling through dephosphorylation of JAK2 (By similarity). APS binding also inhibits the JAK-STAT signaling. Binding to PTPN11, preferentially through the N-terminal SH2 domain, promotes mitogenesis and phosphorylation of PTPN11 (By similarity). Binding of JAK2 (through its N-terminal) promotes cell-surface expression (By similarity). Interaction with the ubiquitin ligase NOSIP mediates EPO-induced cell proliferation. Interacts with ATXN2L. Self; NbExp=2; IntAct=EBI-617321, EBI-617321; Q62225:Cish (xeno); NbExp=4; IntAct=EBI-617321, EBI-617489; P01588:EPO; NbExp=2; IntAct=EBI-617321, EBI-1027362; P16885:PLCG2; NbExp=3; IntAct=EBI-617321, EBI-617403; O14508:SOCS2; NbExp=3; IntAct=EBI-617321, EBI-617737; Cell membrane; Single-pass type I membrane protein. Isoform EPOR-S: Secreted. Note=Secreted and located to the cell surface. Event=Alternative splicing; Named isoforms=3; Name=EPOR-F; Synonyms=Full-length form; IsoId=P19235-1; Sequence=Displayed; Name=EPOR-S; Synonyms=Soluble form; IsoId=P19235-2; Sequence=VSP_009508, VSP_009509; Name=EPOR-T; Synonyms=Truncated form; IsoId=P19235-3; Sequence=VSP_009510, VSP_009511; Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early- stage erythroid progenitor cells. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. On EPO stimulation, phosphorylated on C-terminal tyrosine residues by JAK2. The phosphotyrosine motifs are also recruitment sites for several SH2-containing proteins and adapter proteins which mediate cell proliferation. Phosphorylation on Tyr-454 is required for PTPN6 interaction, Tyr-426 for PTPN11. Tyr-426 is also required for SOCS3 binding, but Tyr-454/Tyr-456 motif is the preferred binding site. Ubiquitination at Lys-281 mediates receptor internalization, whereas ubiquitination at Lys-453 promotes trafficking of activated receptors to the lysosomes for degradation (By similarity). Ubiquitinated by NOSIP; appears to be either multi- monoubiquitinated or polyubiquitinated. Ubiquitination mediates proliferation and survival of EPO-dependent cells. Defects in EPOR are the cause of familial erythrocytosis type 1 (ECYT1) [MIM:133100]. ECYT1 is an autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. Belongs to the type I cytokine receptor family. Type 1 subfamily. Contains 1 fibronectin type-III domain. transmembrane signaling receptor activity cytokine receptor activity erythropoietin receptor activity protein binding extracellular region plasma membrane integral component of plasma membrane signal transduction brain development heart development positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane cytokine-mediated signaling pathway erythropoietin-mediated signaling pathway identical protein binding positive regulation of Ras protein signal transduction decidualization  uc002mrj.1 uc002mrj.2 uc002mrj.3 uc002mrj.4 
ENST00000222145.9 RASIP1 ENST00000222145.9 Homo sapiens Ras interacting protein 1 (RASIP1), mRNA. (from RefSeq NM_017805) ENST00000222145.1 ENST00000222145.2 ENST00000222145.3 ENST00000222145.4 ENST00000222145.5 ENST00000222145.6 ENST00000222145.7 ENST00000222145.8 NM_017805 Q5U651 Q6U676 RAIN_HUMAN uc002pki.1 uc002pki.2 uc002pki.3 uc002pki.4 uc002pki.5 Required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like proteins. May promote HRAS- mediated transformation. Negative regulator of amino acid starvation-induced autophagy. Interacts with Ras family members that have been activated by GTP binding. Interacts with HRAS, RAP1A, RAP2, RRAS, RAF1 and RRAS2. Interacts with MYH9 and ARHGAP29 (By similarity). Cytoplasm, perinuclear region. Golgi apparatus, Golgi stack. Note=Associated with perinuclear vesicles. Is recruited to Golgi stacks by activated HRAS. Highly expressed in heart. Detected at lower levels in placenta and pancreas. Contains 1 dilute domain. Contains 1 Ras-associating domain. angiogenesis vasculogenesis protein binding cytoplasm Golgi apparatus Golgi stack cell-cell junction signal transduction negative regulation of autophagy macromolecular complex positive regulation of integrin activation negative regulation of Rho protein signal transduction protein homodimerization activity regulation of GTPase activity perinuclear region of cytoplasm branching morphogenesis of an epithelial tube GTPase binding negative regulation of membrane permeability negative regulation of Rho-dependent protein serine/threonine kinase activity  uc002pki.1 uc002pki.2 uc002pki.3 uc002pki.4 uc002pki.5 
ENST00000222157.5 FGF21 ENST00000222157.5 Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. (from UniProt Q9NSA1) BC018404 ENST00000222157.1 ENST00000222157.2 ENST00000222157.3 ENST00000222157.4 FGF21_HUMAN Q8N683 Q9NSA1 UNQ3115/PRO10196 uc002pko.1 uc002pko.2 uc002pko.3 Stimulates glucose uptake in differentiated adipocytes via the induction of glucose transporter SLC2A1/GLUT1 expression (but not SLC2A4/GLUT4 expression). Activity requires the presence of KLB. Interacts (via C-terminus) with KLB; this interaction is direct. Interacts with FGFR4. Secreted (Potential). Belongs to the heparin-binding growth factors family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf21/"; fibroblast growth factor receptor binding protein binding extracellular region extracellular space cell signal transduction cell-cell signaling growth factor activity positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway positive regulation of triglyceride catabolic process regulation of low-density lipoprotein particle clearance response to activity endoplasmic reticulum unfolded protein response response to nutrient levels cellular response to drug positive regulation of low-density lipoprotein particle receptor biosynthetic process positive regulation of glucose import positive regulation of ERK1 and ERK2 cascade cellular response to glucose stimulus cellular response to glucagon stimulus cellular response to low-density lipoprotein particle stimulus endothelial cell apoptotic process positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway negative regulation of neuron death response to methionine negative regulation of endothelial cell apoptotic process  uc002pko.1 uc002pko.2 uc002pko.3 
ENST00000222190.9 WDR83OS ENST00000222190.9 WD repeat domain 83 opposite strand (from HGNC WDR83OS) A0A0A0MQS5 AF059620 ENST00000222190.1 ENST00000222190.2 ENST00000222190.3 ENST00000222190.4 ENST00000222190.5 ENST00000222190.6 ENST00000222190.7 ENST00000222190.8 uc060uag.1  uc060uag.1 
ENST00000222212.6 CACNG7 ENST00000222212.6 Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state. (from UniProt P62955) BC113503 CCG7_HUMAN ENST00000222212.1 ENST00000222212.2 ENST00000222212.3 ENST00000222212.4 ENST00000222212.5 P62955 Q52LL8 Q8VBX3 Q8WXS6 Q9BXT1 uc002qcr.1 uc002qcr.2 uc002qcr.3 Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization. Displays subunit-specific AMPA receptor regulation. Shows specificity only for GRIA1 and GRIA2. Thought to stabilize the calcium channel in an inactivated (closed) state. The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG3, CACNG4, CACNG5 and CACNG8. Membrane; Multi-pass membrane protein (By similarity). Widely expressed. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel regulator activity calcium channel activity cytoplasm early endosome plasma membrane voltage-gated calcium channel complex ion transport calcium ion transport membrane integral component of membrane AMPA glutamate receptor complex regulation of ion transmembrane transport neuron projection neuronal cell body regulation of mRNA stability cerebellar mossy fiber cardiac conduction calcium ion transmembrane transport glutamatergic synapse integral component of postsynaptic density membrane neurotransmitter receptor localization to postsynaptic specialization membrane positive regulation of dendrite extension L-type voltage-gated calcium channel complex regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity  uc002qcr.1 uc002qcr.2 uc002qcr.3 
ENST00000222214.10 GCDH ENST00000222214.10 Homo sapiens glutaryl-CoA dehydrogenase (GCDH), transcript variant 4, non-coding RNA. (from RefSeq NR_102317) A8K2Z2 ENST00000222214.1 ENST00000222214.2 ENST00000222214.3 ENST00000222214.4 ENST00000222214.5 ENST00000222214.6 ENST00000222214.7 ENST00000222214.8 ENST00000222214.9 GCDH_HUMAN NR_102317 O14719 Q92947 uc002mvq.1 uc002mvq.2 uc002mvq.3 uc002mvq.4 uc002mvq.5 uc002mvq.6 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]. Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive. Glutaryl-CoA + electron-transfer flavoprotein = (E)-but-2-enoyl-CoA + CO(2) + reduced electron-transfer flavoprotein. FAD. Amino-acid metabolism; lysine degradation. Amino-acid metabolism; tryptophan metabolism. Homotetramer. P62993:GRB2; NbExp=1; IntAct=EBI-1236978, EBI-401755; P29474:NOS3; NbExp=1; IntAct=EBI-1236978, EBI-1391623; P49768:PSEN1; NbExp=1; IntAct=EBI-1236978, EBI-297277; Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q92947-1; Sequence=Displayed; Name=Short; IsoId=Q92947-2; Sequence=VSP_000145; Isoform 1 and isoform 2 are expressed in fibroblasts and liver. Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. Belongs to the acyl-CoA dehydrogenase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GCDH"; fatty-acyl-CoA binding acyl-CoA dehydrogenase activity glutaryl-CoA dehydrogenase activity mitochondrion mitochondrial matrix lysine catabolic process tryptophan metabolic process acyl-CoA metabolic process oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors fatty acid oxidation fatty acid beta-oxidation using acyl-CoA dehydrogenase glutaryl-CoA hydrolase activity fatty-acyl-CoA biosynthetic process flavin adenine dinucleotide binding oxidation-reduction process  uc002mvq.1 uc002mvq.2 uc002mvq.3 uc002mvq.4 uc002mvq.5 uc002mvq.6 
ENST00000222219.8 DNASE2 ENST00000222219.8 Homo sapiens deoxyribonuclease 2, lysosomal (DNASE2), mRNA. (from RefSeq NM_001375) B2RD06 DNASE2A DNL2 DNS2A_HUMAN ENST00000222219.1 ENST00000222219.2 ENST00000222219.3 ENST00000222219.4 ENST00000222219.5 ENST00000222219.6 ENST00000222219.7 NM_001375 O00115 O43910 uc002mvn.1 uc002mvn.2 uc002mvn.3 This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.28874.1, SRR3476690.755593.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151358 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222219.8/ ENSP00000222219.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes DNA under acidic conditions with a preference for double-stranded DNA. Plays a major role in the degradation of nuclear DNA in cellular apoptosis during development. Necessary for proper fetal development and for definitive erythropoiesis in fetal liver, where it degrades nuclear DNA expelled from erythroid precursor cells. Endonucleolytic cleavage to nucleoside 3'- phosphates and 3'-phosphooligonucleotide end-products. Q9Y265:RUVBL1; NbExp=1; IntAct=EBI-1051412, EBI-353675; Q9Y230:RUVBL2; NbExp=1; IntAct=EBI-1051412, EBI-352939; Lysosome. Glycosylated. Mutations that eliminate N-glycosylation sites reduce activity, but enzymatic deglycosylation has no effect. Not required for the generation of the characteristic DNA fragmentation observed in apoptotic cells, but for the degradation of DNA from dying cells (By similarity). Belongs to the DNase II family. DNA catabolic process, endonucleolytic DNA binding nuclease activity endonuclease activity endodeoxyribonuclease activity deoxyribonuclease II activity lysosome DNA metabolic process DNA catabolic process apoptotic DNA fragmentation apoptotic process multicellular organism development hydrolase activity erythrocyte differentiation regulation of immune response extracellular exosome  uc002mvn.1 uc002mvn.2 uc002mvn.3 
ENST00000222224.4 LENG1 ENST00000222224.4 Homo sapiens leukocyte receptor cluster member 1 (LENG1), mRNA. (from RefSeq NM_024316) ENST00000222224.1 ENST00000222224.2 ENST00000222224.3 LENG1_HUMAN NM_024316 Q96BZ8 Q9HCU7 uc002qdm.1 uc002qdm.2 uc002qdm.3 uc002qdm.4 uc002qdm.5 Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4. Sequence=AAG01393.1; Type=Erroneous initiation; molecular_function protein binding cellular_component biological_process  uc002qdm.1 uc002qdm.2 uc002qdm.3 uc002qdm.4 uc002qdm.5 
ENST00000222247.10 RPL18A ENST00000222247.10 Homo sapiens ribosomal protein L18a (RPL18A), mRNA. (from RefSeq NM_000980) ENST00000222247.1 ENST00000222247.2 ENST00000222247.3 ENST00000222247.4 ENST00000222247.5 ENST00000222247.6 ENST00000222247.7 ENST00000222247.8 ENST00000222247.9 NM_000980 Q02543 RL18A_HUMAN uc002nhp.1 uc002nhp.2 uc002nhp.3 uc002nhp.4 uc002nhp.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CD174123.1, CD173034.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222247.10/ ENSP00000222247.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds IPO9 with high affinity. Q9NY93:DDX56; NbExp=1; IntAct=EBI-350523, EBI-372376; Q9NX58:LYAR; NbExp=1; IntAct=EBI-350523, EBI-713507; O43586:PSTPIP1; NbExp=1; IntAct=EBI-350523, EBI-1050964; O00442:RTCD1; NbExp=1; IntAct=EBI-350523, EBI-1045306; Belongs to the ribosomal protein L18Ae family. Sequence=CAA56788.1; Type=Frameshift; Positions=65; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding cytosol ribosome translation translational initiation SRP-dependent cotranslational protein targeting to membrane membrane viral transcription cytosolic large ribosomal subunit polysomal ribosome  uc002nhp.1 uc002nhp.2 uc002nhp.3 uc002nhp.4 uc002nhp.5 
ENST00000222248.4 SLC5A5 ENST00000222248.4 Homo sapiens solute carrier family 5 member 5 (SLC5A5), mRNA. (from RefSeq NM_000453) ENST00000222248.1 ENST00000222248.2 ENST00000222248.3 NIS NM_000453 O43702 Q2M335 Q92911 Q9NYB6 SC5A5_HUMAN uc002nhr.1 uc002nhr.2 uc002nhr.3 uc002nhr.4 uc002nhr.5 This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U66088.1, D87920.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222248.4/ ENSP00000222248.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Mediates iodide uptake in the thyroid gland. Membrane; Multi-pass membrane protein. Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. Defects in SLC5A5 are the cause of thyroid dyshormonogenesis 1 (TDH1) [MIM:274400]. A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC5A5"; nucleus plasma membrane thyroid hormone generation ion transport sodium ion transport sodium:iodide symporter activity iodide transmembrane transporter activity symporter activity iodide transport membrane integral component of membrane transmembrane transporter activity transmembrane transport extracellular exosome cellular response to cAMP cellular response to gonadotropin stimulus extracellular vesicle  uc002nhr.1 uc002nhr.2 uc002nhr.3 uc002nhr.4 uc002nhr.5 
ENST00000222249.13 KCNN1 ENST00000222249.13 Homo sapiens potassium calcium-activated channel subfamily N member 1 (KCNN1), mRNA. (from RefSeq NM_002248) ENST00000222249.1 ENST00000222249.10 ENST00000222249.11 ENST00000222249.12 ENST00000222249.2 ENST00000222249.3 ENST00000222249.4 ENST00000222249.5 ENST00000222249.6 ENST00000222249.7 ENST00000222249.8 ENST00000222249.9 KCNN1_HUMAN NM_002248 Q5KR10 Q6DJU4 Q92952 SK uc002nht.1 uc002nht.2 uc002nht.3 uc002nht.4 Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U69883.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465404 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin (By similarity). Heterooligomer. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92952-1; Sequence=Displayed; Name=2; IsoId=Q92952-2; Sequence=VSP_022501; Belongs to the potassium channel KCNN family. KCa2.1/KCNN1 subfamily. calmodulin binding plasma membrane ion transport potassium ion transport chemical synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity membrane integral component of membrane small conductance calcium-activated potassium channel activity neuron projection neuronal cell body dendritic spine protein heterodimerization activity potassium ion transmembrane transport  uc002nht.1 uc002nht.2 uc002nht.3 uc002nht.4 
ENST00000222250.5 ARRDC2 ENST00000222250.5 Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA. (from RefSeq NM_015683) ARRD2_HUMAN B2RBG9 ENST00000222250.1 ENST00000222250.2 ENST00000222250.3 ENST00000222250.4 NM_015683 O95895 PP2703 Q6ZRV9 Q8TBH0 Q8WYG6 uc002nhv.1 uc002nhv.2 uc002nhv.3 uc002nhv.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TBH0-1; Sequence=Displayed; Name=2; IsoId=Q8TBH0-2; Sequence=VSP_019544; Belongs to the arrestin family. plasma membrane cytoplasmic vesicle  uc002nhv.1 uc002nhv.2 uc002nhv.3 uc002nhv.4 
ENST00000222254.13 PIK3R2 ENST00000222254.13 Homo sapiens phosphoinositide-3-kinase regulatory subunit 2 (PIK3R2), transcript variant 2, non-coding RNA. (from RefSeq NR_073517) ENST00000222254.1 ENST00000222254.10 ENST00000222254.11 ENST00000222254.12 ENST00000222254.2 ENST00000222254.3 ENST00000222254.4 ENST00000222254.5 ENST00000222254.6 ENST00000222254.7 ENST00000222254.8 ENST00000222254.9 NR_073517 O00459 P85B_HUMAN Q5EAT5 Q9UPH9 uc002nia.1 uc002nia.2 uc002nia.3 uc002nia.4 Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Heterodimer of a regulatory subunit PIK3R2 and a p110 catalytic subunit (PIK3CA, PIK3CB or PIK3CD). Interacts with AXL. Interacts with FLT1 (tyrosine-phosphorylated) and FLT4 (tyrosine- phosphorylated). Interacts with NYAP1, NYAP2 and MYO16. P62993:GRB2; NbExp=4; IntAct=EBI-346930, EBI-401755; P42338:PIK3CB; NbExp=3; IntAct=EBI-346930, EBI-2609540; Phosphorylated in response to signaling from activated receptor-type protein kinases. Dephosphorylated by PTPRJ. Belongs to the PI3K p85 subunit family. Contains 1 Rho-GAP domain. Contains 2 SH2 domains. Contains 1 SH3 domain. cellular glucose homeostasis phosphotyrosine binding protein binding nucleus cytosol phosphatidylinositol 3-kinase complex phosphatidylinositol biosynthetic process signal transduction insulin receptor signaling pathway regulation of autophagy phosphatidylinositol 3-kinase signaling protein transport protein phosphatase binding receptor tyrosine kinase binding cellular response to insulin stimulus response to endoplasmic reticulum stress Fc-epsilon receptor signaling pathway Fc-gamma receptor signaling pathway involved in phagocytosis positive regulation of protein import into nucleus negative regulation of MAPK cascade regulation of phosphatidylinositol 3-kinase activity positive regulation of transcription from RNA polymerase II promoter phosphatidylinositol phosphorylation 1-phosphatidylinositol-3-kinase regulator activity protein heterodimerization activity vascular endothelial growth factor receptor signaling pathway phosphatidylinositol-mediated signaling T cell receptor signaling pathway leukocyte migration regulation of small GTPase mediated signal transduction positive regulation of protein kinase B signaling  uc002nia.1 uc002nia.2 uc002nia.3 uc002nia.4 
ENST00000222256.9 RAB3A ENST00000222256.9 Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA. (from RefSeq NM_002866) A8K0J4 ENST00000222256.1 ENST00000222256.2 ENST00000222256.3 ENST00000222256.4 ENST00000222256.5 ENST00000222256.6 ENST00000222256.7 ENST00000222256.8 NM_002866 P20336 Q9NYE1 RAB3A_HUMAN uc002nie.1 uc002nie.2 uc002nie.3 uc002nie.4 Involved in exocytosis by regulating a late step in synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal. Heterodimer with RIMS2. Part of a ternary complex involving PCLO and EPAC2. Interacts with RPH3A. Interacts with the exocyst complex through SEC15. Binds SYTL4, RIMS1 and RIMS2. Interacts with RAB3IP. Interacts with SGSM1 and SGSM3 (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Specifically expressed in brain. Belongs to the small GTPase superfamily. Rab family. nucleotide binding acrosomal vesicle ATPase activator activity plasma membrane repair respiratory system process GTPase activity protein binding GTP binding cytoplasm lysosome endosome cytosol plasma membrane intracellular protein transport exocytosis vesicle docking involved in exocytosis mitochondrion organization neurotransmitter secretion neuromuscular synaptic transmission axonogenesis synaptic vesicle protein C-terminus binding protein secretion post-embryonic development regulation of synaptic vesicle priming glutamate secretion protein transport membrane synaptic vesicle exocytosis synaptic vesicle maturation calcium ion regulated exocytosis regulation of exocytosis transport vesicle secretory granule lung development axon secretory granule membrane GTP-dependent protein binding cytoplasmic vesicle myosin V binding regulation of synaptic vesicle fusion to presynaptic membrane vesicle lysosome localization Rab protein signal transduction positive regulation of ATPase activity macromolecular complex synaptic vesicle recycling terminal bouton intracellular organelle neutrophil degranulation post-translational protein modification constitutive secretory pathway regulated exocytosis positive regulation of exocytosis regulation of short-term neuronal synaptic plasticity perinuclear region of cytoplasm synaptic vesicle transport presynaptic active zone maintenance of presynaptic active zone structure sensory perception of touch GDP-dissociation inhibitor binding ATPase binding response to electrical stimulus clathrin-sculpted acetylcholine transport vesicle membrane clathrin-sculpted glutamate transport vesicle membrane acrosomal vesicle exocytosis clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane evoked neurotransmitter secretion clathrin-sculpted monoamine transport vesicle membrane protein localization to plasma membrane synaptic vesicle clustering anchored component of synaptic vesicle membrane positive regulation of regulated secretory pathway extracellular vesicle regulation of plasma membrane repair regulation of synaptic vesicle exocytosis  uc002nie.1 uc002nie.2 uc002nie.3 uc002nie.4 
ENST00000222266.2 PSENEN ENST00000222266.2 Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity. (from UniProt Q9NZ42) B2R5L9 BC009575 ENST00000222266.1 MDS033 PEN2 PEN2_HUMAN Q9NZ42 uc002obj.1 uc002obj.2 uc002obj.3 Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity. Component of the gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN/PEN2. Such minimal complex is sufficient for secretase activity, although other components may exist. P49755:TMED10; NbExp=3; IntAct=EBI-998468, EBI-998422; Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi- pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Defects in PSENEN are the cause of familial acne inversa type 2 (ACNINV2) [MIM:613736]. A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Belongs to the PEN-2 family. protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane membrane protein ectodomain proteolysis Notch signaling pathway Notch receptor processing endosome membrane membrane integral component of membrane protein processing membrane protein intracellular domain proteolysis Golgi cisterna membrane beta-amyloid formation Notch receptor processing, ligand-dependent amyloid precursor protein metabolic process amyloid precursor protein catabolic process positive regulation of apoptotic process positive regulation of catalytic activity cellular protein metabolic process ephrin receptor signaling pathway gamma-secretase complex  uc002obj.1 uc002obj.2 uc002obj.3 
ENST00000222271.7 COMP ENST00000222271.7 Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA. (from RefSeq NM_000095) COMP_HUMAN ENST00000222271.1 ENST00000222271.2 ENST00000222271.3 ENST00000222271.4 ENST00000222271.5 ENST00000222271.6 NM_000095 O14592 P49747 Q16388 Q16389 Q2NL86 Q8N4T2 uc002nke.1 uc002nke.2 uc002nke.3 uc002nke.4 uc002nke.5 The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK223216.1, SRR1660809.75424.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222271.7/ ENSP00000222271.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity). Binds 11-14 calcium ions per subunit. Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in the presence of Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions. Interacts with ADAMTS12. Interacts with ITGA7 (By similarity). Secreted, extracellular space, extracellular matrix. Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the main defect. Present during the earliest stages of limb maturation and is later found in regions where the joints develop. The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response. The TSP C-terminal domain mediates interaction with FN1 and ACAN. Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions. Defects in COMP are the cause of multiple epiphyseal dysplasia type 1 (EDM1) [MIM:132400]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. Defects in COMP are the cause of pseudoachondroplasia (PSACH) [MIM:177170]. PSAC is a dominantly inherited chondrodysplasia characterized by short stature and early-onset osteoarthrosis. PSACH is more severe than EDM1 and is recognized in early childhood. Belongs to the thrombospondin family. Contains 4 EGF-like domains. Contains 1 TSP C-terminal (TSPC) domain. Contains 8 TSP type-3 repeats. Sequence=AAB86501.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP"; skeletal system development ossification protease binding chondrocyte development endochondral bone growth growth plate cartilage development integrin binding extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region extracellular space apoptotic process response to unfolded protein cell adhesion blood coagulation heparin binding protein secretion animal organ morphogenesis multicellular organism aging animal organ senescence regulation of gene expression vascular smooth muscle contraction protein processing extracellular matrix organization collagen fibril organization bone mineralization regulation of bone mineralization BMP signaling pathway extracellular matrix macromolecular complex multicellular organism growth chondrocyte proliferation tendon development BMP binding negative regulation of apoptotic process proteoglycan binding heparan sulfate proteoglycan binding skin development muscle fiber development artery morphogenesis musculoskeletal movement neuromuscular process cartilage development limb development bone morphogenesis extracellular exosome platelet aggregation vascular smooth muscle cell development bone growth negative regulation of hemostasis positive regulation of chondrocyte proliferation  uc002nke.1 uc002nke.2 uc002nke.3 uc002nke.4 uc002nke.5 
ENST00000222275.3 UPK1A ENST00000222275.3 Homo sapiens uroplakin 1A (UPK1A), transcript variant 1, mRNA. (from RefSeq NM_007000) ENST00000222275.1 ENST00000222275.2 NM_007000 O00322 Q3KNU5 Q3KNU6 TSPAN21 UPK1A_HUMAN uc060xgs.1 uc060xgs.2 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity). Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00322-1; Sequence=Displayed; Name=2; IsoId=O00322-2; Sequence=VSP_030005; Note=No experimental confirmation available; High expression restricted to ureteric urothelium (most superficial cells); low expression in prostate. Expression in normal urothelial cells is lost in culture. Some expression in tumor cell lines derived from urothelial malignancies. Belongs to the tetraspanin (TM4SF) family. protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane cell surface membrane integral component of membrane apical plasma membrane epithelial cell differentiation protein homodimerization activity protein oligomerization extracellular exosome  uc060xgs.1 uc060xgs.2 
ENST00000222284.10 TMEM147 ENST00000222284.10 Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA. (from RefSeq NM_032635) ENST00000222284.1 ENST00000222284.2 ENST00000222284.3 ENST00000222284.4 ENST00000222284.5 ENST00000222284.6 ENST00000222284.7 ENST00000222284.8 ENST00000222284.9 NM_032635 O75790 Q9BVK8 TM147_HUMAN uc002oaj.1 uc002oaj.2 uc002oaj.3 uc002oaj.4 Forms a complex with NCLN and NOMO2, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3. Endoplasmic reticulum membrane; Multi-pass membrane protein. protein binding endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane macromolecular complex  uc002oaj.1 uc002oaj.2 uc002oaj.3 uc002oaj.4 
ENST00000222286.9 GAPDHS ENST00000222286.9 Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA. (from RefSeq NM_014364) B2RC82 ENST00000222286.1 ENST00000222286.2 ENST00000222286.3 ENST00000222286.4 ENST00000222286.5 ENST00000222286.6 ENST00000222286.7 ENST00000222286.8 G3PT_HUMAN GAPD2 GAPDH2 GAPDS HSD-35 HSD35 NM_014364 O14556 O60823 Q6JTT9 Q9HCU6 uc002oaf.1 uc002oaf.2 uc002oaf.3 This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.262758.1, SRR5189667.118236.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222286.9/ ENSP00000222286.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play an important role in regulating the switch between different pathways for energy production during spermiogenesis and in the spermatozoon. Required for sperm motility and male fertility (By similarity). D-glyceraldehyde 3-phosphate + phosphate + NAD(+) = 3-phospho-D-glyceroyl phosphate + NADH. Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 1/5. Homotetramer. Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation. Cytoplasm (By similarity). Testis specific. The testis-specific N-terminal extension mediates tight association with the cytoskeletal fibrous sheath of the spermatozoa flagellum, possibly via interchain disulfide-bonding of Cys-21 with sheath components (PubMed:18298375). Belongs to the glyceraldehyde-3-phosphate dehydrogenase family. glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity protein binding nucleus cytoplasm cytosol glucose metabolic process gluconeogenesis glycolytic process oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor flagellated sperm motility positive regulation of glycolytic process NADP binding NAD binding oxidation-reduction process canonical glycolysis  uc002oaf.1 uc002oaf.2 uc002oaf.3 
ENST00000222304.5 HAMP ENST00000222304.5 Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA. (from RefSeq NM_021175) ENST00000222304.1 ENST00000222304.2 ENST00000222304.3 ENST00000222304.4 HEPC HEPC_HUMAN LEAP1 NM_021175 P81172 Q1HE14 Q9BY68 UNQ487/PRO1003 uc060xaz.1 uc060xaz.2 uc060xaz.3 The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020612.1, BP346863.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222304.5/ ENSP00000222304.2 Protein has antimicrobial activity :: PMID: 11034317 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Seems to act as a signaling molecule involved in the maintenance of iron homeostasis. Seems to be required in conjunction with HFE to regulate both intestinal iron absorption and iron storage in macrophages (By similarity). Has strong antimicrobial activity against E.coli ML35P N.cinerea and weaker against S.epidermidis, S.aureus and group b streptococcus bacteria. Active against the fungus C.albicans. No activity against P.aeruginosa. Secreted. Highest expression in liver and to a lesser extent in heart and brain. Low levels in lung, tonsils, salivary gland, trachea, prostate gland, adrenal gland and thyroid gland. Secreted into the urine. Mass=2789.8; Method=MALDI; Range=60-84; Source=PubMed:11034317; Defects in HAMP are the cause of hemochromatosis type 2B (HFE2B) [MIM:613313]; also known as juvenile hemochromatosis (JH). HFE2B is a disorder of iron metabolism with excess deposition of iron in the tissues, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of hemochromatosis type 2 at presentation are hypogonadism and cardiomyopathy. Belongs to the hepcidin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HAMP"; Name=Wikipedia; Note=Hepcidin entry; URL="http://en.wikipedia.org/wiki/Hepcidin"; negative regulation of transcription from RNA polymerase II promoter positive regulation of receptor internalization receptor binding hormone activity extracellular region extracellular space cell cytoplasm cellular iron ion homeostasis acute-phase response immune response signal transduction aging response to iron ion response to zinc ion intercalated disc killing of cells of other organism negative regulation of ion transmembrane transporter activity response to vitamin A negative regulation of iron ion transmembrane transport response to erythropoietin defense response to bacterium apical cortex response to ethanol defense response to Gram-negative bacterium defense response to Gram-positive bacterium defense response to fungus multicellular organismal iron ion homeostasis positive regulation of cell growth involved in cardiac muscle cell development cellular response to lipopolysaccharide cellular response to interleukin-6 cellular response to tumor necrosis factor cellular response to X-ray liver regeneration iron channel inhibitor activity positive regulation of protein polyubiquitination cellular response to bile acid negative regulation of ferrous iron export negative regulation of iron channel activity negative regulation of intestinal absorption response to iron ion starvation positive regulation of receptor catabolic process  uc060xaz.1 uc060xaz.2 uc060xaz.3 
ENST00000222305.8 USF2 ENST00000222305.8 Homo sapiens upstream transcription factor 2, c-fos interacting (USF2), transcript variant 1, mRNA. (from RefSeq NM_003367) BHLHB12 ENST00000222305.1 ENST00000222305.2 ENST00000222305.3 ENST00000222305.4 ENST00000222305.5 ENST00000222305.6 ENST00000222305.7 NM_003367 O00671 O00709 Q05750 Q07952 Q15851 Q15852 Q15853 Q6FI33 USF2_HUMAN uc002nyq.1 uc002nyq.2 uc002nyq.3 This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]. Transcription factor that binds to a symmetrical DNA sequence (E-boxes) (5'-CACGTG-3') that is found in a variety of viral and cellular promoters. Interacts with MAF (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as an homodimer or a heterodimer (USF1/USF2). In vivo, the USF1/USF2A heterodimer represents over 66% of the usf binding activity whereas the USF1 and USF2A homodimers represent less than 10%. The USF1/USF2B heterodimer accounted for almost 15% in some cell. Nucleus. Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=USF2A; IsoId=Q15853-1; Sequence=Displayed; Name=USF2A-delta-H; IsoId=Q15853-2; Sequence=VSP_002165; Name=USF2B; IsoId=Q15853-3; Sequence=VSP_002164; Ubiquitous. Contains 1 bHLH (basic helix-loop-helix) domain. regulation of transcription from RNA polymerase II promoter by glucose positive regulation of transcription from RNA polymerase II promoter by glucose nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter lactation late viral transcription protein homodimerization activity intracellular membrane-bounded organelle bHLH transcription factor binding sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity lipid homeostasis  uc002nyq.1 uc002nyq.2 uc002nyq.3 
ENST00000222307.9 KXD1 ENST00000222307.9 Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 2, mRNA. (from RefSeq NM_024069) C19orf50 ENST00000222307.1 ENST00000222307.2 ENST00000222307.3 ENST00000222307.4 ENST00000222307.5 ENST00000222307.6 ENST00000222307.7 ENST00000222307.8 KXDL1_HUMAN NM_024069 O76098 Q9BQD3 uc002njo.1 uc002njo.2 uc002njo.3 uc002njo.4 uc002njo.5 Involved in endosomal cargo sorting (By similarity). Associates with the BLOC-1 complex. Interacts with BLOC1S1. Interacts with DTNBP1/BLOC1S7 (via coiled-coil domain) (By similarity). Q8IY31:IFT20; NbExp=2; IntAct=EBI-739657, EBI-744203; Q14533:KRT81; NbExp=2; IntAct=EBI-739657, EBI-739648; Q9UJ41:RABGEF1; NbExp=2; IntAct=EBI-739657, EBI-913954; Belongs to the KXD1 family. Sequence=AAC25583.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding lysosome lysosomal membrane membrane vesicle-mediated transport BLOC-1 complex lysosome localization BORC complex  uc002njo.1 uc002njo.2 uc002njo.3 uc002njo.4 uc002njo.5 
ENST00000222308.8 FKBP8 ENST00000222308.8 Homo sapiens FKBP prolyl isomerase 8 (FKBP8), transcript variant 2, mRNA. (from RefSeq NM_001308373) ENST00000222308.1 ENST00000222308.2 ENST00000222308.3 ENST00000222308.4 ENST00000222308.5 ENST00000222308.6 ENST00000222308.7 FKBP38 FKBP8_HUMAN NM_001308373 Q14318 Q53GU3 Q7Z349 Q86YK6 uc002njk.1 uc002njk.2 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]. Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis. Peptidylproline (omega=180) = peptidylproline (omega=0). Calcium. Homomultimers or heteromultimers (Potential). Forms heterodimer with calmodulin. When activated by calmodulin and calcium, interacts with the BH4 domain of BCL2 and weakly with BCLX isoform Bcl-X(L). Does not bind and inhibit calcineurin. Interacts with HCV NS5A. Interacts with ZFYVE27; may negatively regulate ZFYVE27 phosphorylation. P00533:EGFR; NbExp=3; IntAct=EBI-724839, EBI-297353; Q5T4F4:ZFYVE27; NbExp=4; IntAct=EBI-724839, EBI-3892947; Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14318-1; Sequence=Displayed; Name=2; IsoId=Q14318-2; Sequence=VSP_034486; Widely expressed. Highest levels seen in the brain. Binds the immunosuppressant FK506 only in its calmodulin/calcium activated form. Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats. It is uncertain whether Met-1 or Met-58 is the initiator. Sequence=AAB00102.1; Type=Miscellaneous discrepancy; Note=The first part of the cDNA maps to the same locus, but in opposite orientation; Sequence=AAH09966.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD98028.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein peptidyl-prolyl isomerization cell fate specification negative regulation of protein phosphorylation peptidyl-prolyl cis-trans isomerase activity protein binding mitochondrion mitochondrial envelope endoplasmic reticulum cytosol apoptotic process smoothened signaling pathway dorsal/ventral pattern formation regulation of gene expression membrane integral component of membrane viral process isomerase activity dorsal/ventral neural tube patterning neural tube development integral component of endoplasmic reticulum membrane regulation of BMP signaling pathway positive regulation of BMP signaling pathway mitochondrial membrane macromolecular complex multicellular organism growth intracellular signal transduction identical protein binding camera-type eye development negative regulation of apoptotic process metal ion binding disordered domain specific binding  uc002njk.1 uc002njk.2 
ENST00000222329.9 ERF ENST00000222329.9 Homo sapiens ETS2 repressor factor (ERF), transcript variant 1, mRNA. (from RefSeq NM_006494) B2RAP1 ENST00000222329.1 ENST00000222329.2 ENST00000222329.3 ENST00000222329.4 ENST00000222329.5 ENST00000222329.6 ENST00000222329.7 ENST00000222329.8 ERF_HUMAN NM_006494 P50548 Q59G38 Q9UPI7 uc002ote.1 uc002ote.2 uc002ote.3 uc002ote.4 uc002ote.5 uc002ote.6 ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity). Nucleus. Highest levels in testis, ovary, pancreas, and heart. Phosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Sequence=BAD92508.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA; negative regulation of transcription from RNA polymerase II promoter mitotic cell cycle nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity nucleus nucleoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell differentiation sequence-specific DNA binding  uc002ote.1 uc002ote.2 uc002ote.3 uc002ote.4 uc002ote.5 uc002ote.6 
ENST00000222330.8 GSK3A ENST00000222330.8 Homo sapiens glycogen synthase kinase 3 alpha (GSK3A), mRNA. (from RefSeq NM_019884) ENST00000222330.1 ENST00000222330.2 ENST00000222330.3 ENST00000222330.4 ENST00000222330.5 ENST00000222330.6 ENST00000222330.7 GSK3A_HUMAN NM_019884 O14959 P49840 uc002otb.1 uc002otb.2 uc002otb.3 This gene encodes a multifunctional Ser/Thr protein kinase that is implicated in the control of several regulatory proteins including glycogen synthase, and transcription factors, such as JUN. It also plays a role in the WNT and PI3K signaling pathways, as well as regulates the production of beta-amyloid peptides associated with Alzheimer's disease. [provided by RefSeq, Oct 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027984.1, BC051865.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222330.8/ ENSP00000222330.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transctiption factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. May also mediate the development of insulin resistance by regulating activation of transcription factors. In Wnt signaling, regulates the level and transcriptional activity of nuclear CTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP) processing and the generation of APP-derived amyloid plaques found in Alzheimer disease. May be involved in the regulation of replication in pancreatic beta-cells. Is necessary for the establishment of neuronal polarity and axon outgrowth. ATP + [tau protein] = ADP + [tau protein] phosphate. ATP + a protein = ADP + a phosphoprotein. Activated by phosphorylation at Tyr-279. In response to insulin, inhibited by phosphorylation at Ser-21 by PKB/AKT1; phosphorylation at this site causes a conformational change, preventing access of substrates to the active site. Inhibited by lithium. Monomer. Interacts with ARRB2 (By similarity). Interacts with AXIN1 and CTNNB1/beta-catenin. O75398:DEAF1; NbExp=2; IntAct=EBI-1044067, EBI-718185; Phosphorylated by AKT1 at Ser-21: upon insulin-mediated signaling, the activated PKB/AKT1 protein kinase phosphorylates and desactivates GSK3A, resulting in the dephosphorylation and activation of GYS1. Activated by phosphorylation at Tyr-279. Higher expression and activity of GSK3A are found in the skeletal muscle (vastus lateralis) of patients with type 2 diabetes (PubMed:10868943). Several potent GSK3 (GSK3A and GSK3B) inhibitors have been identified and characterized in preclinical models for treatments of type 2 diabetes (PubMed:19366350). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. GSK-3 subfamily. Contains 1 protein kinase domain. nucleotide binding regulation of systemic arterial blood pressure cardiac left ventricle morphogenesis protein kinase activity protein serine/threonine kinase activity receptor binding protein binding ATP binding nucleus mitochondrion cytosol carbohydrate metabolic process glycogen metabolic process protein phosphorylation signal transduction dopamine receptor signaling pathway nervous system development insulin receptor signaling pathway negative regulation of signal transduction positive regulation of autophagy positive regulation of gene expression negative regulation of UDP-glucose catabolic process Wnt signaling pathway kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation protein kinase binding axon beta-catenin destruction complex positive regulation of protein ubiquitination negative regulation of TOR signaling positive regulation of proteasomal ubiquitin-dependent protein catabolic process cellular response to insulin stimulus protein kinase A catalytic subunit binding cellular response to interleukin-3 IRE1-mediated unfolded protein response neuronal cell body proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of glycogen biosynthetic process positive regulation of protein catabolic process positive regulation of heart contraction negative regulation of glucose import negative regulation of insulin receptor signaling pathway tau protein binding tau-protein kinase activity excitatory postsynaptic potential negative regulation of cell growth involved in cardiac muscle cell development regulation of microtubule cytoskeleton organization positive regulation of adrenergic receptor signaling pathway negative regulation of canonical Wnt signaling pathway extrinsic apoptotic signaling pathway extrinsic apoptotic signaling pathway in absence of ligand apical dendrite postsynapse positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway positive regulation of beta-amyloid formation regulation of mitophagy positive regulation of protein targeting to mitochondrion negative regulation of glycogen synthase activity, transferring glucose-1-phosphate proximal dendrite negative regulation of type B pancreatic cell development negative regulation of dendrite development negative regulation of glycogen (starch) synthase activity positive regulation of glycogen (starch) synthase activity  uc002otb.1 uc002otb.2 uc002otb.3 
ENST00000222339.7 ZNF574 ENST00000222339.7 Homo sapiens zinc finger protein 574 (ZNF574), transcript variant 2, mRNA. (from RefSeq NM_001330519) A0A0C4DFM2 ENST00000222339.1 ENST00000222339.2 ENST00000222339.3 ENST00000222339.4 ENST00000222339.5 ENST00000222339.6 NM_001330519 uc002osk.1 uc002osk.2 uc002osk.3 uc002osk.4 uc002osk.5 uc002osk.6  uc002osk.1 uc002osk.2 uc002osk.3 uc002osk.4 uc002osk.5 uc002osk.6 
ENST00000222345.11 SIPA1L3 ENST00000222345.11 Homo sapiens signal induced proliferation associated 1 like 3 (SIPA1L3), mRNA. (from RefSeq NM_015073) ENST00000222345.1 ENST00000222345.10 ENST00000222345.2 ENST00000222345.3 ENST00000222345.4 ENST00000222345.5 ENST00000222345.6 ENST00000222345.7 ENST00000222345.8 ENST00000222345.9 KIAA0545 NM_015073 O60292 Q2TV87 SI1L3_HUMAN SPAL3 uc002ohk.1 uc002ohk.2 uc002ohk.3 uc002ohk.4 uc002ohk.5 This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC150620.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222345.11/ ENSP00000222345.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Contains 1 PDZ (DHR) domain. Contains 1 Rap-GAP domain. eye development stress fiber hematopoietic progenitor cell differentiation epithelial cell morphogenesis GTPase activator activity protein binding extracellular space plasma membrane cytoskeleton organization membrane apical plasma membrane positive regulation of GTPase activity apical part of cell regulation of small GTPase mediated signal transduction tricellular tight junction establishment of epithelial cell polarity  uc002ohk.1 uc002ohk.2 uc002ohk.3 uc002ohk.4 uc002ohk.5 
ENST00000222374.3 CADM4 ENST00000222374.3 Homo sapiens cell adhesion molecule 4 (CADM4), mRNA. (from RefSeq NM_145296) B2R7L5 CADM4_HUMAN ENST00000222374.1 ENST00000222374.2 IGSF4C NECL4 NM_145296 Q8NFZ8 Q9Y4A4 TSLL2 uc002oxc.1 uc002oxc.2 uc002oxc.3 Involved in the cell-cell adhesion. Has calcium- and magnesium-independent cell-cell adhesion activity. May have tumor- suppressor activity. Monomer and homodimer. Membrane; Single-pass type I membrane protein (Potential). Expressed in brain, prostate, brain, kidney and some other organs. N-glycosylated (By similarity). Belongs to the nectin family. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=AAC32740.1; Type=Erroneous gene model prediction; regulation of protein phosphorylation negative regulation of protein phosphorylation cell adhesion negative regulation of peptidyl-threonine phosphorylation membrane integral component of membrane protein phosphatase binding negative regulation of vascular endothelial growth factor receptor signaling pathway receptor tyrosine kinase binding cell leading edge regulation of Rac protein signal transduction regulation of cell proliferation vascular endothelial growth factor receptor 1 binding vascular endothelial growth factor receptor 2 binding cell-cell contact zone negative regulation of peptidyl-tyrosine phosphorylation regulation of wound healing negative regulation of vascular endothelial growth factor signaling pathway regulation of cell motility  uc002oxc.1 uc002oxc.2 uc002oxc.3 
ENST00000222381.8 PON1 ENST00000222381.8 Homo sapiens paraoxonase 1 (PON1), mRNA. (from RefSeq NM_000446) B2RA40 ENST00000222381.1 ENST00000222381.2 ENST00000222381.3 ENST00000222381.4 ENST00000222381.5 ENST00000222381.6 ENST00000222381.7 NM_000446 P27169 PON PON1_HUMAN Q16052 Q6B0J6 Q9UCB1 uc003uns.1 uc003uns.2 uc003uns.3 uc003uns.4 uc003uns.5 This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D84371.1, U53784.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968832 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222381.8/ ENSP00000222381.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation. A phenyl acetate + H(2)O = a phenol + acetate. An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol. An N-acyl-L-homoserine lactone + H(2)O = an N- acyl-L-homoserine. Binds 2 calcium ions per subunit. Homodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU. Secreted, extracellular space. Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas. Glycosylated. The signal sequence is not cleaved. Present in two forms, form B contains a disulfide bond, form A does not. The allelic form of the enzyme with Gln-192 (allozyme A) hydrolyzes paraoxon with a low turnover number and the one with Arg-192 (allozyme B) with a high turnover number. Genetic variation in PON1 is associated with susceptibility to microvascular complications of diabetes type 5 (MVCD5) [MIM:612633]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new- onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients. The preferential association of PON1 with HDL is mediated in part by its signal peptide, by binding phospholipids directly, rather than binding apo AI. The retained signal peptide may allow transfer of the protein between phospholipid surfaces. Belongs to the paraoxonase family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pon1/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PON1"; aryldialkylphosphatase activity arylesterase activity calcium ion binding phospholipid binding extracellular region extracellular space lipid metabolic process cholesterol metabolic process response to toxic substance positive regulation of cholesterol efflux dephosphorylation hydrolase activity lipoxygenase pathway aromatic compound catabolic process response to nutrient levels positive regulation of transporter activity high-density lipoprotein particle spherical high-density lipoprotein particle protein homodimerization activity intracellular membrane-bounded organelle carboxylic acid catabolic process organophosphate catabolic process phosphatidylcholine metabolic process metal ion binding positive regulation of binding extracellular exosome response to fatty acid blood microparticle acyl-L-homoserine-lactone lactonohydrolase activity response to fluoride negative regulation of plasma lipoprotein particle oxidation  uc003uns.1 uc003uns.2 uc003uns.3 uc003uns.4 uc003uns.5 
ENST00000222382.5 CYP3A43 ENST00000222382.5 Homo sapiens cytochrome P450 family 3 subfamily A member 43 (CYP3A43), transcript variant 1, mRNA. (from RefSeq NM_022820) CP343_HUMAN ENST00000222382.1 ENST00000222382.2 ENST00000222382.3 ENST00000222382.4 NM_022820 Q75MK2 Q9HB52 Q9HB53 Q9HB54 Q9HB55 Q9HB57 uc003ury.1 uc003ury.2 uc003ury.3 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Exhibits low testosterone 6-beta-hydroxylase activity. RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q9HB55-1; Sequence=Displayed; Name=2; IsoId=Q9HB55-2; Sequence=VSP_000609; Name=3; IsoId=Q9HB55-3; Sequence=VSP_000610, VSP_000611; Name=4; IsoId=Q9HB55-4; Sequence=VSP_000612, VSP_000613; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highest expression level in prostate. Also expressed in liver, kidney, pancreas, fetal liver and fetal skeletal muscle. By rifampicin. At protein level, three alleles are known: CYP3A43*1, CYP3A43*2 and CYP3A43*3. The sequence shown is that of CYP3A43*1, which is the most frequent allele. The allele CYP3A43*2 is likely to be non-functional. Chimeric transcripts, characterized by CYP3A43 exon 1 joined at canonical splice sites to distinct sets of CYP3A4 or CYP3A5 exons, have been detected. All are possibly produced by trans-splicing. CYP3A43-CYP3A4 chimeric transcripts exist in 3 different combinations: CYP3A43 exon 1 joined in frame to CYP3A4 exons 2-13, CYP3A43 exon 1 joined in frame to CYP3A4 exons 4-13 and CYP3A43 exon 1 joined in frame to CYP3A4 exon 7-13. The longest chimeric isoform (CYP3A43 exon 1 joined to CYP3A4 exons 2- 13) exhibits 6-beta-hydroxylase activity, while a shorter isoform (CYP3A43 exon 1 joined to CYP3A4 exons 4-13) does not. CYP3A43- CYP3A5 chimeric transcripts exist in 2 different combinations: CYP3A43 exon 1 joined in frame to CYP3A5 exon 11-13 and CYP3A43 exon 1 joined in frame to CYP3A5 exon 12-13. All chimeric transcripts are expressed at very low levels in the liver (PubMed:11726664). Belongs to the cytochrome P450 family. Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP3A43 alleles; URL="http://www.cypalleles.ki.se/cyp3a43.htm"; monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane steroid metabolic process steroid hydroxylase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen heme binding organelle membrane intracellular membrane-bounded organelle metal ion binding testosterone 6-beta-hydroxylase activity oxidation-reduction process aromatase activity oxidative demethylation estrogen 16-alpha-hydroxylase activity  uc003ury.1 uc003ury.2 uc003ury.3 
ENST00000222388.6 ABCF2-H2BK1 ENST00000222388.6 Homo sapiens ABCF2-H2BE1 readthrough (ABCF2-H2BE1), transcript variant 2, non-coding RNA. (from RefSeq NR_160983) A0A090N7Y2 ENST00000222388.1 ENST00000222388.2 ENST00000222388.3 ENST00000222388.4 ENST00000222388.5 NR_160983 uc003wjo.1 uc003wjo.2 uc003wjo.3 This gene represents readthrough transcription between ABCF2 and a downstream histone H2B-like gene. [provided by RefSeq, Mar 2019]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##RefSeq-Attributes-START## readthrough transcript :: includes exons from GeneID 10061, 114483833 ##RefSeq-Attributes-END##  uc003wjo.1 uc003wjo.2 uc003wjo.3 
ENST00000222390.11 HGF ENST00000222390.11 Homo sapiens hepatocyte growth factor (HGF), transcript variant 1, mRNA. (from RefSeq NM_000601) A1L3U6 ENST00000222390.1 ENST00000222390.10 ENST00000222390.2 ENST00000222390.3 ENST00000222390.4 ENST00000222390.5 ENST00000222390.6 ENST00000222390.7 ENST00000222390.8 ENST00000222390.9 HGF_HUMAN HPTA NM_000601 P14210 Q02935 Q13494 Q14519 Q3KRB2 Q8TCE2 Q9BYL9 Q9BYM0 Q9UDU6 uc285zri.1 uc285zri.2 This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]. HGF is a potent mitogen for mature parenchymal hepatocyte cells, seems to be an hepatotrophic factor, and acts as growth factor for a broad spectrum of tissues and cell types. It has no detectable protease activity. Activating ligand for the receptor tyrosine kinase MET by binding and promoting its dimerization. Dimer of an alpha chain and a beta chain linked by a disulfide bond. P08581:MET; NbExp=2; IntAct=EBI-1039104, EBI-1039152; P16056:Met (xeno); NbExp=2; IntAct=EBI-1039104, EBI-1798780; Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=P14210-1; Sequence=Displayed; Name=2; IsoId=P14210-2; Sequence=VSP_009622, VSP_009623; Name=3; IsoId=P14210-3; Sequence=VSP_009617; Name=4; Synonyms=HGF/NK2; IsoId=P14210-4; Sequence=VSP_009620, VSP_009621; Note=Acts as a competitive antagonist in MET-signaling; Name=5; IsoId=P14210-5; Sequence=VSP_009617, VSP_009622, VSP_009623; Note=No experimental confirmation available; Name=6; Synonyms=HGF/NK1; IsoId=P14210-6; Sequence=VSP_009618, VSP_009619; Defects in HGF are the cause of deafness autosomal recessive type 39 (DFNB39) [MIM:608265]. A form of profound prelingual sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Belongs to the peptidase S1 family. Plasminogen subfamily. Contains 4 kringle domains. Contains 1 PAN domain. Contains 1 peptidase S1 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hgf/"; Name=Wikipedia; Note=Hepatocyte growth factor entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_growth_factor"; MAPK cascade activation of MAPK activity mitotic cell cycle cell morphogenesis epithelial to mesenchymal transition liver development positive regulation of protein phosphorylation platelet degranulation serine-type endopeptidase activity protein binding extracellular region extracellular space proteolysis growth factor activity negative regulation of autophagy positive regulation of phosphatidylinositol 3-kinase signaling membrane cytokine-mediated signaling pathway hyaluronan metabolic process positive regulation of cell migration platelet alpha granule lumen animal organ regeneration positive regulation of myelination negative regulation of interleukin-6 production positive regulation of interleukin-10 production negative regulation of peptidyl-serine phosphorylation cellular response to hepatocyte growth factor stimulus chemoattractant activity identical protein binding negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of osteoblast differentiation positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity hepatocyte growth factor receptor signaling pathway epithelial cell proliferation negative regulation of inflammatory response positive regulation of peptidyl-tyrosine phosphorylation positive chemotaxis myoblast proliferation positive regulation of protein kinase B signaling cell chemotaxis regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling positive regulation of neuron projection regeneration negative regulation of release of cytochrome c from mitochondria regulation of p38MAPK cascade negative regulation of hydrogen peroxide-mediated programmed cell death negative regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of tau-protein kinase activity positive regulation of DNA biosynthetic process  uc285zri.1 uc285zri.2 
ENST00000222396.9 ENSG00000290531 ENST00000222396.9 ENSG00000290531 (from geneSymbol) ENST00000222396.1 ENST00000222396.2 ENST00000222396.3 ENST00000222396.4 ENST00000222396.5 ENST00000222396.6 ENST00000222396.7 ENST00000222396.8 uc058mkv.1  uc058mkv.1 
ENST00000222399.11 LAMB1 ENST00000222399.11 Homo sapiens laminin subunit beta 1 (LAMB1), mRNA. (from RefSeq NM_002291) ENST00000222399.1 ENST00000222399.10 ENST00000222399.2 ENST00000222399.3 ENST00000222399.4 ENST00000222399.5 ENST00000222399.6 ENST00000222399.7 ENST00000222399.8 ENST00000222399.9 LAMB1_HUMAN NM_002291 P07942 Q14D91 uc003vew.1 uc003vew.2 uc003vew.3 uc003vew.4 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by published experimental evidence. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.8226.1, SRR1803611.79860.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222399.11/ ENSP00000222399.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin-211 or merosin), laminin-6 (laminin- 311 or K-laminin), laminin-8 (laminin-411), laminin-10 (laminin- 511) and laminin-12 (laminin-213). Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI and IV are globular. Contains 13 laminin EGF-like domains. Contains 1 laminin IV type B domain. Contains 1 laminin N-terminal domain. integrin binding structural molecule activity extracellular matrix structural constituent protein binding extracellular region basement membrane laminin-1 complex laminin-2 complex extracellular space endoplasmic reticulum lumen cell adhesion animal organ morphogenesis tissue development cell migration neuronal-glial interaction involved in cerebral cortex radial glia guided migration extracellular matrix organization positive regulation of cell migration neuron projection development substrate adhesion-dependent cell spreading endodermal cell differentiation odontogenesis laminin complex laminin-8 complex laminin-10 complex post-translational protein modification cellular protein metabolic process perinuclear region of cytoplasm positive regulation of epithelial cell proliferation extracellular exosome basement membrane assembly  uc003vew.1 uc003vew.2 uc003vew.3 uc003vew.4 
ENST00000222402.8 UBE2D4 ENST00000222402.8 Homo sapiens ubiquitin conjugating enzyme E2 D4 (putative) (UBE2D4), mRNA. (from RefSeq NM_015983) A4D1V0 ENST00000222402.1 ENST00000222402.2 ENST00000222402.3 ENST00000222402.4 ENST00000222402.5 ENST00000222402.6 ENST00000222402.7 NM_015983 Q9Y2X8 UB2D4_HUMAN UBCH5D uc003tja.1 uc003tja.2 uc003tja.3 uc003tja.4 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer 'Lys-11' and 'Lys-48'-linked polyubiquitination. ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. Protein modification; protein ubiquitination. Q86UW9:DTX2; NbExp=3; IntAct=EBI-745527, EBI-740376; Q9BV68:RNF126; NbExp=3; IntAct=EBI-745527, EBI-357322; Q8ND25:ZNRF1; NbExp=3; IntAct=EBI-745527, EBI-2129250; Belongs to the ubiquitin-conjugating enzyme family. ubiquitin ligase complex nucleotide binding ubiquitin-protein transferase activity protein binding ATP binding ubiquitin-dependent protein catabolic process protein ubiquitination transferase activity ubiquitin protein ligase binding protein K29-linked ubiquitination protein K27-linked ubiquitination ubiquitin conjugating enzyme activity protein K63-linked ubiquitination protein K48-linked ubiquitination protein K11-linked ubiquitination protein K6-linked ubiquitination  uc003tja.1 uc003tja.2 uc003tja.3 uc003tja.4 
ENST00000222462.3 WNT16 ENST00000222462.3 Homo sapiens Wnt family member 16 (WNT16), transcript variant 1, mRNA. (from RefSeq NM_057168) ENST00000222462.1 ENST00000222462.2 NM_057168 Q2M3G1 Q9UBV4 Q9Y5C0 WNT16_HUMAN uc003vjw.1 uc003vjw.2 uc003vjw.3 uc003vjw.4 uc003vjw.5 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It contains two transcript variants diverging at the 5' termini. These two variants are proposed to be the products of separate promoters and not to be splice variants from a single promoter. They are differentially expressed in normal tissues, one of which (variant 2) is expressed at significant levels only in the pancreas, whereas another one (variant 1) is expressed more ubiquitously with highest levels in adult kidney, placenta, brain, heart, and spleen. [provided by RefSeq, Jul 2008]. Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). Secreted, extracellular space, extracellular matrix. Event=Alternative splicing; Named isoforms=2; Name=Wnt-16b; IsoId=Q9UBV4-1; Sequence=Displayed; Name=Wnt-16a; IsoId=Q9UBV4-2; Sequence=VSP_006797; Isoform Wnt-16b is expressed in peripheral lymphoid organs such as spleen, appendix, and lymph nodes, in kidney but not in bone marrow. Isoform Wnt-16a is expressed at significant levels only in the pancreas. Palmitoylation at Ser-227 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-81. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). Belongs to the Wnt family. optic cup formation involved in camera-type eye development receptor binding frizzled binding extracellular region extracellular space cytoplasm multicellular organism development positive regulation of gene expression positive regulation of phosphatidylinositol 3-kinase signaling Wnt signaling pathway neuron differentiation keratinocyte differentiation keratinocyte proliferation cell fate commitment positive regulation of JNK cascade bone remodeling cardiac epithelial to mesenchymal transition negative regulation of cell death replicative senescence oxidative stress-induced premature senescence  uc003vjw.1 uc003vjw.2 uc003vjw.3 uc003vjw.4 uc003vjw.5 
ENST00000222481.9 CPA2 ENST00000222481.9 Homo sapiens carboxypeptidase A2 (CPA2), mRNA. (from RefSeq NM_001869) A4D1M4 C9JIK1 CBPA2_HUMAN ENST00000222481.1 ENST00000222481.2 ENST00000222481.3 ENST00000222481.4 ENST00000222481.5 ENST00000222481.6 ENST00000222481.7 ENST00000222481.8 NM_001869 P48052 Q53XS1 Q96A12 Q96QN3 Q9UCF1 uc003vpq.1 uc003vpq.2 uc003vpq.3 uc003vpq.4 uc003vpq.5 Three different forms of human pancreatic procarboxypeptidase A have been isolated. The encoded protein represents the A2 form, which is a monomeric protein with different biochemical properties from the A1 and A3 forms. The A2 form of pancreatic procarboxypeptidase acts on aromatic C-terminal residues and is a secreted protein. [provided by RefSeq, Dec 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007009.1, BC014571.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222481.9/ ENSP00000222481.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Similar to that of carboxypeptidase A (EC 3.4.17.1), but with a preference for bulkier C-terminal residues. Binds 1 zinc ion per subunit. Secreted. Belongs to the peptidase M14 family. Sequence=AAA74425.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07009.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH14571.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH15140.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAL24092.1; Type=Erroneous gene model prediction; carboxypeptidase activity metallocarboxypeptidase activity extracellular region extracellular space vacuole proteolysis protein catabolic process in the vacuole peptidase activity metallopeptidase activity zinc ion binding hydrolase activity metal ion binding  uc003vpq.1 uc003vpq.2 uc003vpq.3 uc003vpq.4 uc003vpq.5 
ENST00000222482.10 CPA4 ENST00000222482.10 Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA. (from RefSeq NM_016352) B7Z576 CBPA4_HUMAN CPA3 ENST00000222482.1 ENST00000222482.2 ENST00000222482.3 ENST00000222482.4 ENST00000222482.5 ENST00000222482.6 ENST00000222482.7 ENST00000222482.8 ENST00000222482.9 NM_016352 Q86UY9 Q9UI42 UNQ694/PRO1339 uc285zyb.1 uc285zyb.2 This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008]. Metalloprotease that could be involved in the histone hyperacetylation pathway. Binds 1 zinc ion per subunit. Interacts with LXN. Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UI42-1; Sequence=Displayed; Name=2; IsoId=Q9UI42-2; Sequence=VSP_042894; Note=No experimental confirmation available; Fetal expression in the adrenal gland, brain, heart, intestine, kidney, liver and lung. Except for fetal brain that shows no imprinting, expression was found preferentially from the maternal allele. Up-regulated by inhibitors of histone dacetylation. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity protein binding cellular_component extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding histone acetylation hydrolase activity metal ion binding  uc285zyb.1 uc285zyb.2 
ENST00000222511.11 GTPBP10 ENST00000222511.11 Homo sapiens GTP binding protein 10 (GTPBP10), transcript variant 2, mRNA. (from RefSeq NM_033107) A4D1E9 B4DFY6 ENST00000222511.1 ENST00000222511.10 ENST00000222511.2 ENST00000222511.3 ENST00000222511.4 ENST00000222511.5 ENST00000222511.6 ENST00000222511.7 ENST00000222511.8 ENST00000222511.9 GTPBA_HUMAN NM_033107 OBGH2 Q3B7A6 Q5H9V2 Q8IXG8 Q8N982 Q8WU16 Q9BSP1 Q9Y6T6 UG0751c10 uc003ukm.1 uc003ukm.2 uc003ukm.3 uc003ukm.4 Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]. May be involved in the ribosome maturation process. Complements an ObgE(CgtA) function in E.coli ribosome maturation. Plays a role of GTPase in vitro. When missing, disorganization of the nuceleolar architecture is observed. Nucleus, nucleolus. Chromosome. Note=Found in the dense fibrillar compartment region of the nucleolus. At the onset of mitosis moves to the chromosome surface and remains there until anaphase. Gradually re-assembles into the nucleolus at late anaphase to telophase. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A4D1E9-1; Sequence=Displayed; Name=2; IsoId=A4D1E9-2; Sequence=VSP_029880; Name=3; IsoId=A4D1E9-3; Sequence=VSP_029881, VSP_029882; Belongs to the GTP1/OBG family. nucleotide binding RNA binding protein binding GTP binding nucleus chromosome nucleolus ribosome biogenesis  uc003ukm.1 uc003ukm.2 uc003ukm.3 uc003ukm.4 
ENST00000222543.11 TFPI2 ENST00000222543.11 Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), transcript variant 1, mRNA. (from RefSeq NM_006528) ENST00000222543.1 ENST00000222543.10 ENST00000222543.2 ENST00000222543.3 ENST00000222543.4 ENST00000222543.5 ENST00000222543.6 ENST00000222543.7 ENST00000222543.8 ENST00000222543.9 NM_006528 P48307 Q66ME8 Q9UC86 TFPI2_HUMAN uc003umy.1 uc003umy.2 uc003umy.3 uc003umy.4 This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. May play a role in the regulation of plasmin-mediated matrix remodeling. Inhibits trypsin, plasmin, factor VIIa/tissue factor and weakly factor Xa. Has no effect on thrombin. Secreted. Umbilical vein endothelial cells, liver, placenta, heart, pancreas, and maternal serum at advanced pregnancy. This inhibitor contains three inhibitory domains. Contains 3 BPTI/Kunitz inhibitor domains. serine-type endopeptidase inhibitor activity extracellular matrix structural constituent extracellular region extracellular space blood coagulation hemostasis negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity extracellular matrix cellular response to fluid shear stress  uc003umy.1 uc003umy.2 uc003umy.3 uc003umy.4 
ENST00000222547.8 BET1 ENST00000222547.8 Homo sapiens Bet1 golgi vesicular membrane trafficking protein (BET1), transcript variant 1, mRNA. (from RefSeq NM_005868) ENST00000222547.1 ENST00000222547.2 ENST00000222547.3 ENST00000222547.4 ENST00000222547.5 ENST00000222547.6 ENST00000222547.7 NM_005868 Q53XK0 Q53XK0_HUMAN hCG_19198 tcag7.252 uc003unf.1 uc003unf.2 uc003unf.3 This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. protein binding protein transport membrane integral component of membrane integral component of Golgi membrane  uc003unf.1 uc003unf.2 uc003unf.3 
ENST00000222553.8 NAMPT ENST00000222553.8 Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA. (from RefSeq NM_005746) A4D0Q9 A4D0R0 ENST00000222553.1 ENST00000222553.2 ENST00000222553.3 ENST00000222553.4 ENST00000222553.5 ENST00000222553.6 ENST00000222553.7 NAMPT_HUMAN NM_005746 P43490 PBEF PBEF1 Q3KQV0 Q8WW95 uc003vdq.1 uc003vdq.2 uc003vdq.3 uc003vdq.4 uc003vdq.5 This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.25741.1, SRR1803617.277343.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222553.8/ ENSP00000222553.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the condensation of nicotinamide with 5- phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway (By similarity). Nicotinamide D-ribonucleotide + diphosphate = nicotinamide + 5-phospho-alpha-D-ribose 1-diphosphate. Inhibited by FK866. FK866 competes for the same binding site as nicotinamide, but due to its very low dissociation rate, it is essentially an irreversible inhibitor. Cofactor biosynthesis; NAD(+) biosynthesis; nicotinamide D-ribonucleotide from 5-phospho-alpha-D-ribose 1-diphosphate and nicotinamide: step 1/1. Homodimer. Cytoplasm (By similarity). Expressed in large amounts in bone marrow, liver tissue, and muscle. Also present in heart, placenta, lung, and kidney tissues. Belongs to the NAPRTase family. Was originally (PubMed:8289818) thought to be a cytokine which acts on early B-lineage precursor cells, by enhancing the effect of IL-7 and SCF on pre-B-cell colony formation. Sequence=AAQ96862.1; Type=Erroneous gene model prediction; Sequence=EAL24400.1; Type=Erroneous gene model prediction; microglial cell activation catalytic activity nicotinate-nucleotide diphosphorylase (carboxylating) activity cytokine activity protein binding extracellular region extracellular space nucleus cytoplasm cytosol plasma membrane signal transduction cell-cell signaling female pregnancy aging circadian rhythm drug binding positive regulation of cell proliferation NAD biosynthetic process negative regulation of autophagy response to organic cyclic compound regulation of lung blood pressure nuclear speck transferase activity transferase activity, transferring glycosyl groups pyridine nucleotide biosynthetic process cell junction circadian regulation of gene expression NAD biosynthesis via nicotinamide riboside salvage pathway identical protein binding protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter nicotinamide phosphoribosyltransferase activity rhythmic process positive regulation of smooth muscle cell proliferation positive regulation of nitric-oxide synthase biosynthetic process extracellular exosome neuron death cellular response to ionizing radiation cellular response to oxygen-glucose deprivation cellular response to beta-amyloid response to D-galactose negative regulation of cellular senescence insulin receptor signaling pathway adipose tissue development  uc003vdq.1 uc003vdq.2 uc003vdq.3 uc003vdq.4 uc003vdq.5 
ENST00000222567.6 POLR1F ENST00000222567.6 Homo sapiens RNA polymerase I subunit F (POLR1F), mRNA. (from RefSeq NM_001002926) A0PJ45 B7Z724 ENST00000222567.1 ENST00000222567.2 ENST00000222567.3 ENST00000222567.4 ENST00000222567.5 NM_001002926 Q3B726 RPA43_HUMAN TWISTNB uc003sup.1 uc003sup.2 uc003sup.3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters. Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with RRN3/TIF-IA. Nucleus, nucleolus (By similarity). Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues. Belongs to the eukaryotic RPA43 RNA polymerase subunit family. Sequence=AAH14574.1; Type=Frameshift; Positions=224; DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm nucleolus DNA-directed RNA polymerase I complex transcription, DNA-templated transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription positive regulation of gene expression, epigenetic cellular response to leukemia inhibitory factor RNA polymerase I activity  uc003sup.1 uc003sup.2 uc003sup.3 
ENST00000222572.8 PON2 ENST00000222572.8 Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA. (from RefSeq NM_000305) A4D1H7 B2RCP9 B4DJD5 ENST00000222572.1 ENST00000222572.2 ENST00000222572.3 ENST00000222572.4 ENST00000222572.5 ENST00000222572.6 ENST00000222572.7 NM_000305 O15114 O15115 O75856 PON2_HUMAN Q15165 Q5FBX7 Q86YL0 uc003unv.1 uc003unv.2 uc003unv.3 uc003unv.4 uc003unv.5 This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis. A phenyl acetate + H(2)O = a phenol + acetate. An N-acyl-L-homoserine lactone + H(2)O = an N- acyl-L-homoserine. Binds 2 calcium ions per subunit (By similarity). Homotrimer. Membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=3; Name=2; IsoId=Q15165-2; Sequence=Displayed; Name=1; IsoId=Q15165-1; Sequence=VSP_004533; Name=3; IsoId=Q15165-3; Sequence=VSP_040715; Widely expressed with highest expression in liver, lung, placenta, testis and heart. The signal sequence is not cleaved (By similarity). Belongs to the paraoxonase family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pon2/"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PON2"; arylesterase activity extracellular region nucleus mitochondrion lysosome plasma membrane response to oxidative stress response to toxic substance membrane hydrolase activity lipoxygenase pathway aromatic compound catabolic process identical protein binding intracellular membrane-bounded organelle metal ion binding acyl-L-homoserine-lactone lactonohydrolase activity  uc003unv.1 uc003unv.2 uc003unv.3 uc003unv.4 uc003unv.5 
ENST00000222573.5 ITGB8 ENST00000222573.5 Homo sapiens integrin subunit beta 8 (ITGB8), mRNA. (from RefSeq NM_002214) A4D133 ENST00000222573.1 ENST00000222573.2 ENST00000222573.3 ENST00000222573.4 ITB8_HUMAN NM_002214 P26012 uc003suu.1 uc003suu.2 uc003suu.3 uc003suu.4 uc003suu.5 This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.12804.1, M73780.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222573.5/ ENSP00000222573.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Integrin alpha-V/beta-8 is a receptor for fibronectin. Heterodimer of an alpha and a beta subunit. Beta-8 associates with alpha-V. Membrane; Single-pass type I membrane protein. Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells. Belongs to the integrin beta chain family. Contains 1 VWFA domain. vasculogenesis ganglioside metabolic process receptor binding integrin binding plasma membrane cell adhesion integrin-mediated signaling pathway integrin complex cell surface positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane cell migration extracellular matrix organization cell adhesion mediated by integrin integrin alphav-beta8 complex signaling receptor activity positive regulation of angiogenesis cartilage development placenta blood vessel development extracellular exosome regulation of transforming growth factor beta activation extracellular matrix protein binding cell-matrix adhesion  uc003suu.1 uc003suu.2 uc003suu.3 uc003suu.4 uc003suu.5 
ENST00000222574.9 HBP1 ENST00000222574.9 Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA. (from RefSeq NM_012257) B3KVB7 ENST00000222574.1 ENST00000222574.2 ENST00000222574.3 ENST00000222574.4 ENST00000222574.5 ENST00000222574.6 ENST00000222574.7 ENST00000222574.8 HBP1_HUMAN NM_012257 O60381 Q8TBM1 Q8TE93 Q96AJ2 uc003vdy.1 uc003vdy.2 uc003vdy.3 uc003vdy.4 Transcriptional repressor that binds to the promoter region of target genes. Plays a role in the regulation of the cell cycle and of the Wnt pathway. Binds preferentially to the sequence 5'-TTCATTCATTCA-3'. Binding to the H1F0 promoter is enhanced by interaction with RB1. Disrupts the interaction between DNA and TCF4. Binds the second PAH repeat of SIN3A (By similarity). Binds TCF4 and RB1. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60381-1; Sequence=Displayed; Name=2; IsoId=O60381-2; Sequence=VSP_014655; Note=No experimental confirmation available; Name=3; IsoId=O60381-3; Sequence=VSP_014656; Contains 1 AXH domain. Contains 1 HMG box DNA-binding domain. Sequence=BAB85059.1; Type=Erroneous initiation; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding RNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell cycle arrest Wnt signaling pathway nuclear speck  uc003vdy.1 uc003vdy.2 uc003vdy.3 uc003vdy.4 
ENST00000222584.8 SP4 ENST00000222584.8 Homo sapiens Sp4 transcription factor (SP4), transcript variant 1, mRNA. (from RefSeq NM_003112) ENST00000222584.1 ENST00000222584.2 ENST00000222584.3 ENST00000222584.4 ENST00000222584.5 ENST00000222584.6 ENST00000222584.7 NM_003112 O60402 Q02446 Q32M52 SP4_HUMAN uc003sva.1 uc003sva.2 uc003sva.3 uc003sva.4 uc003sva.5 The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]. Binds to GT and GC boxes promoters elements. Probable transcriptional activator. Nucleus. Abundant in brain. Belongs to the Sp1 C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytosol regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding metal ion binding positive regulation of nucleic acid-templated transcription  uc003sva.1 uc003sva.2 uc003sva.3 uc003sva.4 uc003sva.5 
ENST00000222597.7 CBLL1 ENST00000222597.7 Homo sapiens Cbl proto-oncogene like 1 (CBLL1), transcript variant 3, mRNA. (from RefSeq NM_001284291) ENST00000222597.1 ENST00000222597.2 ENST00000222597.3 ENST00000222597.4 ENST00000222597.5 ENST00000222597.6 HAKAI HAKAI_HUMAN NM_001284291 Q75N03 Q8TAJ4 Q9H5S6 RNF188 uc011kmf.1 uc011kmf.2 uc011kmf.3 uc011kmf.4 uc011kmf.5 This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]. Promotes ubiquitination of tyrosine-phosphorylated CDH1, thus targeting CDH1 for endocytosis and degradation (By similarity). Protein modification; protein ubiquitination. Interacts with tyrosine-phosphorylated CDH1 (By similarity). Contains 1 C2H2-type zinc finger. Contains 1 RING-type zinc finger. ubiquitin ligase complex ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm cytosol negative regulation of cell adhesion multicellular organism development protein ubiquitination nuclear speck transferase activity positive regulation of cell migration entry of bacterium into host cell MIS complex identical protein binding positive regulation of endocytosis metal ion binding ubiquitin protein ligase activity mRNA methylation cell-cell adhesion  uc011kmf.1 uc011kmf.2 uc011kmf.3 uc011kmf.4 uc011kmf.5 
ENST00000222644.10 PALS2 ENST00000222644.10 Homo sapiens membrane palmitoylated protein 6 (MPP6), transcript variant 2, mRNA. (from RefSeq NM_001303037) A4D157 ENST00000222644.1 ENST00000222644.2 ENST00000222644.3 ENST00000222644.4 ENST00000222644.5 ENST00000222644.6 ENST00000222644.7 ENST00000222644.8 ENST00000222644.9 MPP6 MPP6_HUMAN NM_001303037 Q9H0E1 Q9NZW5 VAM1 uc003swy.1 uc003swy.2 uc003swy.3 uc003swy.4 uc003swy.5 Members of the peripheral membrane-associated guanylate kinase (MAGUK) family function in tumor suppression and receptor clustering by forming multiprotein complexes containing distinct sets of transmembrane, cytoskeletal, and cytoplasmic signaling proteins. All MAGUKs contain a PDZ-SH3-GUK core and are divided into 4 subfamilies, DLG-like (see DLG1; MIM 601014), ZO1-like (see TJP1; MIM 601009), p55-like (see MPP1; MIM 305360), and LIN2-like (see CASK; MIM 300172), based on their size and the presence of additional domains. MPP6 is a member of the p55-like MAGUK subfamily (Tseng et al., 2001 [PubMed 11311936]).[supplied by OMIM, Mar 2008]. Interacts with CADM1 (By similarity). Interacts with the LIN7 proteins. Membrane; Peripheral membrane protein (By similarity). Abundant in testis, brain, and kidney with lower levels detectable in other tissues. Belongs to the MAGUK family. Contains 1 guanylate kinase-like domain. Contains 2 L27 domains. Contains 1 PDZ (DHR) domain. Contains 1 SH3 domain. protein binding plasma membrane membrane macromolecular complex assembly extracellular exosome  uc003swy.1 uc003swy.2 uc003swy.3 uc003swy.4 uc003swy.5 
ENST00000222673.6 OGDH ENST00000222673.6 Homo sapiens oxoglutarate dehydrogenase (OGDH), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002541) B4E2U9 D3DVL0 E9PBM1 ENST00000222673.1 ENST00000222673.2 ENST00000222673.3 ENST00000222673.4 ENST00000222673.5 NM_002541 ODO1_HUMAN Q02218 Q96DD3 Q9UDX0 uc003tln.1 uc003tln.2 uc003tln.3 uc003tln.4 uc003tln.5 This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2- oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3). 2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase] lipoyllysine = [dihydrolipoyllysine-residue succinyltransferase] S-succinyldihydrolipoyllysine + CO(2). Thiamine pyrophosphate. Catabolite repressed. Mitochondrion matrix. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q02218-1; Sequence=Displayed; Name=2; IsoId=Q02218-2; Sequence=VSP_042313; Name=3; IsoId=Q02218-3; Sequence=VSP_043628, VSP_043629; Note=No experimental confirmation available; Belongs to the alpha-ketoglutarate dehydrogenase family. Sequence=BAA01393.1; Type=Frameshift; Positions=1003; Sequence=BAA06836.1; Type=Frameshift; Positions=1003; Name=Wikipedia; Note=Alpha-ketoglutarate dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Alpha-ketoglutarate_dehydrogenase"; oxoglutarate dehydrogenase (succinyl-transferring) activity nucleus mitochondrion mitochondrial matrix generation of precursor metabolites and energy glycolytic process tricarboxylic acid cycle 2-oxoglutarate metabolic process succinyl-CoA metabolic process lysine catabolic process oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor thiamine pyrophosphate binding mitochondrial membrane oxoglutarate dehydrogenase complex metal ion binding oxidation-reduction process  uc003tln.1 uc003tln.2 uc003tln.3 uc003tln.4 uc003tln.5 
ENST00000222674.2 NPVF ENST00000222674.2 Homo sapiens neuropeptide VF precursor (NPVF), mRNA. (from RefSeq NM_022150) A4D164 C7orf9 ENST00000222674.1 NM_022150 Q7LE27 Q96PI9 Q9HCQ7 RFRP RFRP_HUMAN uc003sxo.1 uc003sxo.2 uc003sxo.3 uc003sxo.4 Neuropeptide RFRP-1 acts as a potent negative regulator of gonadotropin synthesis and secretion. Neuropeptides NPSF and NPVF efficiently inhibit forskolin-induced production of cAMP, but RFRP-2 shows no inhibitory activity. Neuropeptide RFRP-1 induces secretion of prolactin in rats. Neuropeptide NPVF blocks morphine- induced analgesia. P00519:ABL1; NbExp=1; IntAct=EBI-1753111, EBI-375543; P06241:FYN; NbExp=1; IntAct=EBI-1753111, EBI-515315; P16333:NCK1; NbExp=1; IntAct=EBI-1753111, EBI-389883; Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCQ7-1; Sequence=Displayed; Name=2; IsoId=Q9HCQ7-2; Sequence=VSP_039962; Isoform 1 is specifically expressed in the retina. Neuropeptides RFRP-1 and NPVF are detected in the hypothalamus. Mass=1428.85; Method=MALDI; Range=81-92; Source=PubMed:20027225; Mass=969.56; Method=MALDI; Range=124-131; Source=PubMed:20027225; Belongs to the FARP (FMRFamide related peptide) family. extracellular region neuropeptide signaling pathway negative regulation of gonadotropin secretion  uc003sxo.1 uc003sxo.2 uc003sxo.3 uc003sxo.4 
ENST00000222690.10 H2AZ2 ENST00000222690.10 Homo sapiens H2A.Z variant histone 2 (H2AZ2), transcript variant 2, mRNA. (from RefSeq NM_138635) A6NN01 ENST00000222690.1 ENST00000222690.2 ENST00000222690.3 ENST00000222690.4 ENST00000222690.5 ENST00000222690.6 ENST00000222690.7 ENST00000222690.8 ENST00000222690.9 H2AFV H2AV H2AV_HUMAN NM_138635 Q59GV8 Q6PK98 Q71UI9 uc003tlz.1 uc003tlz.2 uc003tlz.3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]. Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division (By similarity). The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. H2A or its variant H2AFV forms an heterodimer with H2B (By similarity). Nucleus (By similarity). Chromosome (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q71UI9-1; Sequence=Displayed; Name=2; IsoId=Q71UI9-2; Sequence=VSP_042855; Note=No experimental confirmation available; Monoubiquitination of Lys-122 gives a specific tag for epigenetic transcriptional repression (By similarity). Acetylated on Lys-5, Lys-8 and Lys-12 during interphase. Acetylation disappears at mitosis (By similarity). Mass=13369.4; Method=Electrospray; Range=2-128; Note=Monoisotopic, not modified; Source=PubMed:16457589; Belongs to the histone H2A family. Sequence=BAD92238.1; Type=Erroneous initiation; nucleosome nuclear chromatin molecular_function DNA binding nucleus chromosome chromatin organization biological_process protein heterodimerization activity extracellular exosome  uc003tlz.1 uc003tlz.2 uc003tlz.3 
ENST00000222693.5 CAV2 ENST00000222693.5 Homo sapiens caveolin 2 (CAV2), transcript variant 1, mRNA. (from RefSeq NM_001233) ENST00000222693.1 ENST00000222693.2 ENST00000222693.3 ENST00000222693.4 NM_001233 Q53X57 Q53X57_HUMAN hCG_39087 tcag7.25 uc003vid.1 uc003vid.2 uc003vid.3 uc003vid.4 uc003vid.5 The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]. May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein (By similarity). Belongs to the caveolin family. Golgi membrane negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation acrosomal membrane caveolar macromolecular signaling complex Golgi apparatus plasma membrane caveola focal adhesion mitochondrion organization endoplasmic reticulum organization negative regulation of cell proliferation membrane integral component of membrane protein kinase binding negative regulation of transforming growth factor beta receptor signaling pathway protein binding, bridging macromolecular complex protein heterodimerization activity skeletal muscle fiber development binding, bridging caveola assembly basement membrane organization scaffold protein binding  uc003vid.1 uc003vid.2 uc003vid.3 uc003vid.4 uc003vid.5 
ENST00000222718.7 HOXA2 ENST00000222718.7 Homo sapiens homeobox A2 (HOXA2), mRNA. (from RefSeq NM_006735) A1L4K3 B2RMW3 ENST00000222718.1 ENST00000222718.2 ENST00000222718.3 ENST00000222718.4 ENST00000222718.5 ENST00000222718.6 HOX1K HXA2_HUMAN NM_006735 O43364 uc003syh.1 uc003syh.2 uc003syh.3 uc003syh.4 uc003syh.5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC130571.1, CN431833.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222718.7/ ENSP00000222718.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate (MHICP) [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal- recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate. Belongs to the Antp homeobox family. Proboscipedia subfamily. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate determination osteoblast development DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development segment specification pattern specification process motor neuron axon guidance anterior/posterior pattern specification dorsal/ventral pattern formation rhombomere 2 development rhombomere 3 development rhombomere 3 morphogenesis brain segmentation middle ear morphogenesis intracellular membrane-bounded organelle sequence-specific DNA binding cell fate commitment negative regulation of neuron differentiation negative regulation of osteoblast differentiation positive regulation of transcription from RNA polymerase II promoter embryonic viscerocranium morphogenesis embryonic skeletal system morphogenesis cellular response to retinoic acid  uc003syh.1 uc003syh.2 uc003syh.3 uc003syh.4 uc003syh.5 
ENST00000222725.10 LFNG ENST00000222725.10 Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA. (from RefSeq NM_001040167) ENST00000222725.1 ENST00000222725.2 ENST00000222725.3 ENST00000222725.4 ENST00000222725.5 ENST00000222725.6 ENST00000222725.7 ENST00000222725.8 ENST00000222725.9 LFNG_HUMAN NM_001040167 O00589 Q8NES3 Q96C39 Q9UJW5 uc003smf.1 uc003smf.2 uc003smf.3 uc003smf.4 uc003smf.5 This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]. Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning (By similarity). Transfers a beta-D-GlcNAc residue from UDP-D- GlcNAc to the fucose residue of a fucosylated protein acceptor. Manganese (By similarity). Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q8NES3-1; Sequence=Displayed; Name=2; IsoId=Q8NES3-2; Sequence=VSP_001792, VSP_001793; Name=3; IsoId=Q8NES3-3; Sequence=VSP_001794, VSP_001795; A soluble form may be derived from the membrane form by proteolytic processing (Potential). Defects in LFNG are the cause of spondylocostal dysostosis type 3 (SCDO3) [MIM:609813]. An autosomal recessive condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Belongs to the glycosyltransferase 31 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT1"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LFNG"; Name=Functional Glycomics Gateway - GTase; Note=Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_551"; Golgi membrane ovarian follicle development somitogenesis marginal zone B cell differentiation molecular_function extracellular region Golgi apparatus multicellular organism development compartment pattern specification pattern specification process regulation of Notch signaling pathway animal organ morphogenesis regulation of somitogenesis membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups integral component of Golgi membrane T cell differentiation positive regulation of protein binding O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity protein O-linked fucosylation positive regulation of Notch signaling pathway metal ion binding positive regulation of meiotic cell cycle negative regulation of Notch signaling pathway involved in somitogenesis extracellular vesicle  uc003smf.1 uc003smf.2 uc003smf.3 uc003smf.4 uc003smf.5 
ENST00000222726.4 HOXA5 ENST00000222726.4 Homo sapiens homeobox A5 (HOXA5), mRNA. (from RefSeq NM_019102) A4D179 ENST00000222726.1 ENST00000222726.2 ENST00000222726.3 HOX1C HXA5_HUMAN NM_019102 O43367 P20719 Q96CY6 uc003syn.1 uc003syn.2 uc003syn.3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC013682.1, ERR279833.10864.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267755, SAMN03267761 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222726.4/ ENSP00000222726.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Also binds to its own promoter. Binds specifically to the motif 5'-CYYNATTA[TG]Y-3'. Nucleus. Expressed during embryogenesis and in adult kidney. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development morphogenesis of an epithelium respiratory system process DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development pattern specification process respiratory gaseous exchange anterior/posterior pattern specification positive regulation of receptor biosynthetic process cell migration negative regulation of angiogenesis lung development thyroid gland development regulation of mammary gland epithelial cell proliferation multicellular organism growth positive regulation of apoptotic process sequence-specific DNA binding positive regulation of myeloid cell differentiation negative regulation of erythrocyte differentiation positive regulation of transcription from RNA polymerase II promoter lung alveolus development embryonic skeletal system morphogenesis embryonic skeletal system development bronchiole development trachea morphogenesis epithelial tube branching involved in lung morphogenesis lung goblet cell differentiation lobar bronchus epithelium development lung-associated mesenchyme development trachea cartilage morphogenesis cartilage morphogenesis intestinal epithelial cell maturation mesenchymal-epithelial cell signaling mammary gland epithelial cell differentiation mammary gland alveolus development cell-cell signaling involved in mammary gland development  uc003syn.1 uc003syn.2 uc003syn.3 
ENST00000222728.3 HOXA6 ENST00000222728.3 Homo sapiens homeobox A6 (HOXA6), mRNA. (from RefSeq NM_024014) A4D192 ENST00000222728.1 ENST00000222728.2 HOX1B HXA6_HUMAN NM_024014 P31267 Q2M3G3 Q9UPM0 uc003syo.1 uc003syo.2 uc003syo.3 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC104915.1, EL736261.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222728.3/ ENSP00000222728.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development anterior/posterior pattern specification sequence-specific DNA binding embryonic skeletal system morphogenesis embryonic skeletal system development  uc003syo.1 uc003syo.2 uc003syo.3 
ENST00000222747.8 TSPAN12 ENST00000222747.8 Homo sapiens tetraspanin 12 (TSPAN12), mRNA. (from RefSeq NM_012338) A4D0V8 B4DRG6 ENST00000222747.1 ENST00000222747.2 ENST00000222747.3 ENST00000222747.4 ENST00000222747.5 ENST00000222747.6 ENST00000222747.7 NET2 NM_012338 O95859 Q549U9 Q8N5Y0 TM4SF12 TSN12_HUMAN UNQ774/PRO1568 uc003vjk.1 uc003vjk.2 uc003vjk.3 uc003vjk.4 uc003vjk.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358703.1, SRR3476690.754286.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222747.8/ ENSP00000222747.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activate the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity. Component of a complex, at least composed of TSPAN12, FZD4 and norrin (NDP) (By similarity). Interacts (when palmitoylated) with ADAM10. Interacts with MMP14/MT1-MMP. Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95859-1; Sequence=Displayed; Name=2; IsoId=O95859-2; Sequence=VSP_038525; Note=No experimental confirmation available; Palmitoylated; required for interaction with ADAM10. The precise position of palmitoylated residues is unclear and occurs either on Cys-9, Cys-12 and/or Cys-83. Defects in TSPAN12 are the cause of vitreoretinopathy exudative type 5 (EVR5) [MIM:613310]. It is a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. Note=TSPAN12 dominant and recessive mutations have been identified in patients with exudative vitreoretinopathy. Patients with mutations in both alleles of TSPAN12 have severe exudative vitreoretinopathy or retinal dysplasia. These mutations appear to result in a milder phenotype in heterozygous mutation carriers (PubMed:22427576). Belongs to the tetraspanin (TM4SF) family. angiogenesis protein binding plasma membrane integral component of plasma membrane cell surface receptor signaling pathway retina layer formation membrane integral component of membrane Wnt signaling pathway regulation of angiogenesis Wnt-activated receptor activity  uc003vjk.1 uc003vjk.2 uc003vjk.3 uc003vjk.4 uc003vjk.5 
ENST00000222761.7 EVX1 ENST00000222761.7 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8W9J5) AK314155 ENST00000222761.1 ENST00000222761.2 ENST00000222761.3 ENST00000222761.4 ENST00000222761.5 ENST00000222761.6 F8W9J5 F8W9J5_HUMAN uc010kuy.1 uc010kuy.2 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleoplasm  uc010kuy.1 uc010kuy.2 
ENST00000222792.11 CHN2 ENST00000222792.11 Homo sapiens chimerin 2 (CHN2), transcript variant 2, mRNA. (from RefSeq NM_004067) ARHGAP3 BCH CHIO_HUMAN ENST00000222792.1 ENST00000222792.10 ENST00000222792.2 ENST00000222792.3 ENST00000222792.4 ENST00000222792.5 ENST00000222792.6 ENST00000222792.7 ENST00000222792.8 ENST00000222792.9 NM_004067 P52757 Q2M203 Q75MM2 uc003szz.1 uc003szz.2 uc003szz.3 uc003szz.4 uc003szz.5 This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]. GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors. Membrane; Peripheral membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=Beta-2; IsoId=P52757-1; Sequence=Displayed; Name=Beta-1; IsoId=P52757-2; Sequence=Not described; Highest levels in the brain and pancreas. Also expressed in the heart, placenta, and weakly in the kidney and liver. Expression is much reduced in the malignant gliomas, compared to normal brain or low-grade astrocytomas. Contains 1 phorbol-ester/DAG-type zinc finger. Contains 1 Rho-GAP domain. Contains 1 SH2 domain. SH3/SH2 adaptor activity GTPase activator activity protein binding cytosol signal transduction positive regulation of signal transduction membrane intracellular signal transduction regulation of GTPase activity positive regulation of GTPase activity metal ion binding regulation of small GTPase mediated signal transduction  uc003szz.1 uc003szz.2 uc003szz.3 uc003szz.4 uc003szz.5 
ENST00000222800.8 ABHD11 ENST00000222800.8 Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=A; IsoId=Q8NFV4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928; Name=3; Synonyms=C; IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927; Name=4; Synonyms=D; IsoId=Q8NFV4-4; Sequence=VSP_023924; Name=5; Synonyms=E; IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930; (from UniProt Q8NFV4) ABHDB_HUMAN ENST00000222800.1 ENST00000222800.2 ENST00000222800.3 ENST00000222800.4 ENST00000222800.5 ENST00000222800.6 ENST00000222800.7 NR_169872 PP1226 Q6PJU0 Q8N722 Q8N723 Q8NFV2 Q8NFV3 Q8NFV4 Q9HBS8 WBSCR21 uc003tzb.1 uc003tzb.2 uc003tzb.3 uc003tzb.4 uc003tzb.5 Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=A; IsoId=Q8NFV4-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8NFV4-2; Sequence=VSP_023925, VSP_023928; Name=3; Synonyms=C; IsoId=Q8NFV4-3; Sequence=VSP_023926, VSP_023927; Name=4; Synonyms=D; IsoId=Q8NFV4-4; Sequence=VSP_023924; Name=5; Synonyms=E; IsoId=Q8NFV4-5; Sequence=VSP_023924, VSP_023929, VSP_023930; Ubiquitously expressed. Note=ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Belongs to the AB hydrolase superfamily. It is uncertain whether Met-1 or Met-10 is the initiator. Sequence=AAG17214.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=AAS07472.1; Type=Erroneous gene model prediction; molecular_function cellular_component mitochondrion biological_process hydrolase activity  uc003tzb.1 uc003tzb.2 uc003tzb.3 uc003tzb.4 uc003tzb.5 
ENST00000222803.10 FKBP14 ENST00000222803.10 Homo sapiens FKBP prolyl isomerase 14 (FKBP14), transcript variant 3, non-coding RNA. (from RefSeq NR_046479) ENST00000222803.1 ENST00000222803.2 ENST00000222803.3 ENST00000222803.4 ENST00000222803.5 ENST00000222803.6 ENST00000222803.7 ENST00000222803.8 ENST00000222803.9 FKB14_HUMAN FKBP22 NR_046479 Q9NWM8 UNQ322/PRO381 uc003tal.1 uc003tal.2 uc003tal.3 uc003tal.4 The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]. PPIases accelerate the folding of proteins during protein synthesis. Peptidylproline (omega=180) = peptidylproline (omega=0). Endoplasmic reticulum lumen. Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI- related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. Contains 2 EF-hand domains. Contains 1 PPIase FKBP-type domain. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding endoplasmic reticulum endoplasmic reticulum lumen isomerase activity IRE1-mediated unfolded protein response metal ion binding  uc003tal.1 uc003tal.2 uc003tal.3 uc003tal.4 
ENST00000222812.8 STX1A ENST00000222812.8 Homo sapiens syntaxin 1A (STX1A), transcript variant 1, mRNA. (from RefSeq NM_004603) ENST00000222812.1 ENST00000222812.2 ENST00000222812.3 ENST00000222812.4 ENST00000222812.5 ENST00000222812.6 ENST00000222812.7 NM_004603 Q75ME0 Q75ME0_HUMAN hCG_96107 uc003tyx.1 uc003tyx.2 uc003tyx.3 uc003tyx.4 uc003tyx.5 This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]. Belongs to the syntaxin family. Contains 1 t-SNARE coiled-coil homology domain. SNARE binding positive regulation of neurotransmitter secretion SNAP receptor activity plasma membrane integral component of plasma membrane intracellular protein transport synaptic vesicle voltage-gated potassium channel complex response to gravity positive regulation of norepinephrine secretion regulation of synaptic vesicle priming postsynaptic density membrane integral component of membrane synaptic vesicle exocytosis synaptic vesicle docking vesicle-mediated transport myosin binding calcium ion regulated exocytosis regulation of exocytosis calcium channel inhibitor activity protein domain specific binding insulin secretion secretory granule integral component of synaptic vesicle membrane axon synaptic vesicle membrane protein binding, bridging synaptic vesicle fusion to presynaptic active zone membrane nuclear membrane myosin head/neck binding macromolecular complex positive regulation of catecholamine secretion SNARE complex assembly actomyosin presynaptic membrane neuron projection ATP-dependent protein binding intracellular organelle ion channel binding regulated exocytosis positive regulation of exocytosis positive regulation of calcium ion-dependent exocytosis hormone secretion protein heterodimerization activity protein N-terminus binding vesicle docking calcium-dependent protein binding presynaptic active zone membrane synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex synaptobrevin 2-SNAP-25-syntaxin-1a complex protein localization to membrane modulation of excitatory postsynaptic potential glutamatergic synapse integral component of presynaptic membrane positive regulation of excitatory postsynaptic potential  uc003tyx.1 uc003tyx.2 uc003tyx.3 uc003tyx.4 uc003tyx.5 
ENST00000222823.9 NOD1 ENST00000222823.9 Homo sapiens nucleotide binding oligomerization domain containing 1 (NOD1), transcript variant 1, mRNA. (from RefSeq NM_006092) CARD4 ENST00000222823.1 ENST00000222823.2 ENST00000222823.3 ENST00000222823.4 ENST00000222823.5 ENST00000222823.6 ENST00000222823.7 ENST00000222823.8 NM_006092 NOD1_HUMAN Q549U4 Q8IWF5 Q9Y239 uc003tav.1 uc003tav.2 uc003tav.3 uc003tav.4 uc003tav.5 This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.197963.1, BC040339.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000222823.9/ ENSP00000222823.4 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Enhances caspase-9-mediated apoptosis. Induces NF-kappa- B activity via RIPK2 and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS). Forms an intracellular sensing system along with ARHGEF2 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIPK2 dependent NF-kappa-B signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides but also in the activation of NF-kappa-B by Shigella effector proteins IpgB2 and OspB. Homodimer. Self-associates. Binds to caspase-9 and RIPK2 by CARD-CARD interaction. Interacts with ARHGEF2. Self; NbExp=2; IntAct=EBI-1051262, EBI-1051262; Cytoplasm. Basolateral cell membrane. Note=Recruited to the basolateral membrane compartment in polarized epithelial cells. Highly expressed in adult heart, skeletal muscle, pancreas, spleen and ovary. Also detected in placenta, lung, liver, kidney, thymus, testis, small intestine and colon. Contains 1 CARD domain. Contains 9 LRR (leucine-rich) repeats. Contains 1 NACHT domain. nucleotide binding activation of MAPK activity immune system process positive regulation of dendritic cell antigen processing and presentation protein binding ATP binding cytoplasm cytosol plasma membrane apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process defense response inflammatory response signal transduction JNK cascade cysteine-type endopeptidase activator activity involved in apoptotic process detection of biotic stimulus positive regulation of cell death membrane detection of bacterium basolateral plasma membrane apical plasma membrane positive regulation of interleukin-1 beta production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of stress-activated MAPK cascade intracellular signal transduction interleukin-8 biosynthetic process defense response to bacterium identical protein binding protein homodimerization activity peptidoglycan binding regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of cysteine-type endopeptidase activity involved in apoptotic process macromolecular complex binding innate immune response positive regulation of JNK cascade CARD domain binding defense response to Gram-positive bacterium positive regulation of nitric-oxide synthase activity positive regulation of NF-kappaB transcription factor activity positive regulation of ERK1 and ERK2 cascade nucleotide-binding oligomerization domain containing signaling pathway interleukin-1-mediated signaling pathway cellular response to muramyl dipeptide positive regulation of NIK/NF-kappaB signaling positive regulation of xenophagy  uc003tav.1 uc003tav.2 uc003tav.3 uc003tav.4 uc003tav.5 
ENST00000222902.7 CCL24 ENST00000222902.7 Homo sapiens C-C motif chemokine ligand 24 (CCL24), transcript variant 2, mRNA. (from RefSeq NM_002991) B2R5K2 CCL24_HUMAN ENST00000222902.1 ENST00000222902.2 ENST00000222902.3 ENST00000222902.4 ENST00000222902.5 ENST00000222902.6 MPIF2 NM_002991 O00175 SCYA24 uc011kga.1 uc011kga.2 uc011kga.3 uc011kga.4 This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2008]. Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3. Secreted. Activated monocytes and activated T lymphocytes. N-glycosylated. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL24 entry; URL="http://en.wikipedia.org/wiki/CCL24"; positive regulation of endothelial cell proliferation monocyte chemotaxis cytokine activity protein binding extracellular region extracellular space chemotaxis inflammatory response immune response cytoskeleton organization signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity regulation of cell shape positive regulation of cell migration neutrophil chemotaxis positive regulation of actin filament polymerization CCR3 chemokine receptor binding positive regulation of GTPase activity positive regulation of angiogenesis receptor agonist activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis positive regulation of inflammatory response chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of eosinophil migration  uc011kga.1 uc011kga.2 uc011kga.3 uc011kga.4 
ENST00000222969.10 BUD31 ENST00000222969.10 Homo sapiens BUD31 homolog (BUD31), transcript variant 1, mRNA. (from RefSeq NM_003910) A4D274 BUD31_HUMAN D6W5S6 EDG2 ENST00000222969.1 ENST00000222969.2 ENST00000222969.3 ENST00000222969.4 ENST00000222969.5 ENST00000222969.6 ENST00000222969.7 ENST00000222969.8 ENST00000222969.9 NM_003910 P41223 Q6IB53 Q9UDV1 uc003uqg.1 uc003uqg.2 uc003uqg.3 uc003uqg.4 uc003uqg.5 uc003uqg.6 Nucleus (Potential). Belongs to the BUD31 (G10) family. mRNA splicing, via spliceosome protein binding nucleus nucleoplasm spliceosomal complex mRNA processing RNA splicing ligand-dependent nuclear receptor transcription coactivator activity nuclear hormone receptor binding U2-type catalytic step 2 spliceosome positive regulation of nucleic acid-templated transcription positive regulation of androgen receptor activity nuclear chromatin  uc003uqg.1 uc003uqg.2 uc003uqg.3 uc003uqg.4 uc003uqg.5 uc003uqg.6 
ENST00000222982.8 CYP3A5 ENST00000222982.8 Homo sapiens cytochrome P450 family 3 subfamily A member 5 (CYP3A5), transcript variant 5, mRNA. (from RefSeq NM_001291830) A4D289 B7Z5I7 CP3A5_HUMAN ENST00000222982.1 ENST00000222982.2 ENST00000222982.3 ENST00000222982.4 ENST00000222982.5 ENST00000222982.6 ENST00000222982.7 NM_001291830 P20815 Q53WY8 Q75MV0 Q9HB56 uc003urq.1 uc003urq.2 uc003urq.3 uc003urq.4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]. Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P20815-1; Sequence=Displayed; Name=2; IsoId=P20815-2; Sequence=VSP_042734, VSP_042735; Note=No experimental confirmation available; P450 can be induced to high levels in liver and other tissues by various foreign compounds, including drugs, pesticides, and carcinogens. Chimeric transcripts, characterized by CYP3A43 exon 1 joined at canonical splice sites to distinct sets of CYP3A5 exons, have been detected. All are possibly produced by trans- splicing. The chimeric transcripts exist in 2 different combinations: CYP3A43 exon 1 joined in frame to CYP3A5 exon 11-13 and CYP3A43 exon 1 joined in frame to CYP3A5 exon 12-13. All chimeric transcripts are expressed at very low levels in the liver (PubMed:11726664). Belongs to the cytochrome P450 family. Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP3A5 alleles; URL="http://www.cypalleles.ki.se/cyp3a5.htm"; lipid hydroxylation monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process xenobiotic metabolic process steroid metabolic process estrogen metabolic process steroid hydroxylase activity retinoic acid 4-hydroxylase activity alkaloid catabolic process membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen oxygen binding heme binding organelle membrane retinol metabolic process retinoic acid metabolic process drug catabolic process intracellular membrane-bounded organelle metal ion binding testosterone 6-beta-hydroxylase activity oxidation-reduction process aromatase activity oxidative demethylation estrogen 16-alpha-hydroxylase activity  uc003urq.1 uc003urq.2 uc003urq.3 uc003urq.4 
ENST00000222990.8 SNX8 ENST00000222990.8 Homo sapiens sorting nexin 8 (SNX8), mRNA. (from RefSeq NM_013321) A4D207 ENST00000222990.1 ENST00000222990.2 ENST00000222990.3 ENST00000222990.4 ENST00000222990.5 ENST00000222990.6 ENST00000222990.7 NM_013321 Q96I67 Q9Y5X2 SNX8_HUMAN uc003slw.1 uc003slw.2 uc003slw.3 uc003slw.4 May be involved in several stages of intracellular trafficking. May play a role in intracellular protein transport from early endosomes to the trans-Golgi network. P16333:NCK1; NbExp=2; IntAct=EBI-1752557, EBI-389883; Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with retromer components. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. protein binding endosome cytosol intracellular protein transport lipid binding protein transport membrane early endosome membrane early endosome to Golgi transport phosphatidylinositol binding retrograde transport, endosome to Golgi identical protein binding intracellular membrane-bounded organelle retromer complex  uc003slw.1 uc003slw.2 uc003slw.3 uc003slw.4 
ENST00000223023.5 WASL ENST00000223023.5 Homo sapiens WASP like actin nucleation promoting factor (WASL), mRNA. (from RefSeq NM_003941) ENST00000223023.1 ENST00000223023.2 ENST00000223023.3 ENST00000223023.4 NM_003941 O00401 Q7Z746 WASL_HUMAN uc003vkz.1 uc003vkz.2 uc003vkz.3 uc003vkz.4 uc003vkz.5 uc003vkz.6 This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052955.1, SRR1660805.240690.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223023.5/ ENSP00000223023.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex. Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression. Binds actin and the Arp2/3 complex. Interacts with CDC42. Binds to SH3 domains of GRB2. Interacts with the C-terminal SH3 domain of DNMBP. Interacts with SNX9. Interacts with the WW domains of PRPF40A/FBP11. Interacts with PTK2/FAK1 (By similarity). Interacts with NOSTRIN. Interacts with Shigella flexneri protein IcsA. The interaction with IcsA enhances the affinity of WASL for Arp2/3, thus assembling a tight complex which has maximal activity in actin assembly. Interacts with E.coli effector protein EspF(U). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Binds to TNK2. P61157:ACTR3 (xeno); NbExp=3; IntAct=EBI-957615, EBI-351419; P60953:CDC42; NbExp=3; IntAct=EBI-957615, EBI-81752; Q8R511:Fnbp1 (xeno); NbExp=2; IntAct=EBI-957615, EBI-1111424; P62993:GRB2; NbExp=3; IntAct=EBI-957615, EBI-401755; O60504-2:SORBS3; NbExp=2; IntAct=EBI-957615, EBI-1222956; O43516:WIPF1; NbExp=3; IntAct=EBI-957615, EBI-346356; Cytoplasm, cytoskeleton (By similarity). Nucleus (By similarity). Note=Preferentially localized in the cytoplasm when phosphorylated and in the nucleus when unphosphorylated (By similarity). Phosphorylation at Ser-242, Tyr-256, Ser-484 and Ser-485 enhances actin polymerization activity. Contains 1 CRIB domain. Contains 1 WH1 domain. Contains 2 WH2 domains. actin cortical patch assembly actin binding protein binding nucleus cytoplasm cytosol cytoskeleton actin filament plasma membrane endocytosis membrane budding actin filament organization cell cycle actin polymerization or depolymerization response to bacterium actin cytoskeleton vesicle organization lamellipodium actin cytoskeleton organization actin filament polymerization actin filament-based movement vesicle transport along actin filament actin cap actin cortical patch endocytic vesicle membrane GTPase regulator activity cytoplasmic vesicle regulation of protein localization cellular protein complex localization Fc-gamma receptor signaling pathway involved in phagocytosis positive regulation of transcription from RNA polymerase II promoter ephrin receptor signaling pathway regulation of nitric-oxide synthase activity actin filament binding cell division positive regulation of filopodium assembly spindle localization actin cortical patch localization dendritic spine morphogenesis membrane organization macromolecular complex assembly extracellular exosome negative regulation of membrane tubulation positive regulation of clathrin-dependent endocytosis negative regulation of lymphocyte migration positive regulation of Arp2/3 complex-mediated actin nucleation  uc003vkz.1 uc003vkz.2 uc003vkz.3 uc003vkz.4 uc003vkz.5 uc003vkz.6 
ENST00000223026.9 HYAL4 ENST00000223026.9 Homo sapiens hyaluronidase 4 (HYAL4), mRNA. (from RefSeq NM_012269) D0VXG1 ENST00000223026.1 ENST00000223026.2 ENST00000223026.3 ENST00000223026.4 ENST00000223026.5 ENST00000223026.6 ENST00000223026.7 ENST00000223026.8 HYAL4_HUMAN NM_012269 Q2M3T9 Q9UL99 Q9Y6T9 uc003vlc.1 uc003vlc.2 uc003vlc.3 uc003vlc.4 uc003vlc.5 This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## CDS exon combination :: AB470346.1, BC104790.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223026.9/ ENSP00000223026.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide. Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. pH dependence: Optimum pH is 4.5-5 (for chondroitin sulfate hydrolase activity); Temperature dependence: Optimum temperature is 37 degrees Celsius; Membrane; Multi-pass membrane protein (Potential). Detected in placenta and skeletal muscle. Belongs to the glycosyl hydrolase 56 family. catalytic activity hyalurononglucosaminidase activity carbohydrate metabolic process glycosaminoglycan catabolic process metabolic process cell surface membrane integral component of membrane hydrolase activity hydrolase activity, acting on glycosyl bonds chondroitin sulfate catabolic process  uc003vlc.1 uc003vlc.2 uc003vlc.3 uc003vlc.4 uc003vlc.5 
ENST00000223028.11 SPAM1 ENST00000223028.11 sperm adhesion molecule 1 (from HGNC SPAM1) AY920280 ENST00000223028.1 ENST00000223028.10 ENST00000223028.2 ENST00000223028.3 ENST00000223028.4 ENST00000223028.5 ENST00000223028.6 ENST00000223028.7 ENST00000223028.8 ENST00000223028.9 Q5D1J4 Q5D1J4_HUMAN hCG_32922 tcag7.49 uc064hpp.1 catalytic activity hyalurononglucosaminidase activity carbohydrate metabolic process fusion of sperm to egg plasma membrane metabolic process membrane integral component of membrane hydrolase activity hydrolase activity, acting on glycosyl bonds  uc064hpp.1 
ENST00000223029.8 AIMP2 ENST00000223029.8 Homo sapiens aminoacyl tRNA synthetase complex interacting multifunctional protein 2 (AIMP2), transcript variant 1, mRNA. (from RefSeq NM_006303) AIMP2_HUMAN ENST00000223029.1 ENST00000223029.2 ENST00000223029.3 ENST00000223029.4 ENST00000223029.5 ENST00000223029.6 ENST00000223029.7 JTV1 NM_006303 PRO0992 Q13155 Q75MR1 Q96CZ5 Q9P1L2 uc003spo.1 uc003spo.2 uc003spo.3 uc003spo.4 uc003spo.5 The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]. Required for assembly and stability of the aminoacyl- tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down- regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor. Component of the aminoacyl-tRNA synthase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl and aspartyl-tRNA synthases, and three auxiliary proteins, EEF1E1/p18, AIMP2/p38 and AIMP1/p43. Binds FUBP1 (via C-terminus). Interacts in both its unphosphorylated and phosphorylated forms with p53/TP53 (via N-terminus) in the nucleus following UV irradiation. Interacts (via N-terminus) with KARS and PARK2/parkin (via first RING-type domain). Q0VDD7:C19orf57; NbExp=4; IntAct=EBI-745226, EBI-741210; P04591:gag (xeno); NbExp=3; IntAct=EBI-745226, EBI-6179719; Cytoplasm, cytosol (By similarity). Nucleus (By similarity). Note=Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus (By similarity). Phosphorylated on serine residues in response to UV irradiation (By similarity). Ubiquitinated by PARK2, leading to its degradation by the proteasome. Mutant PARK2 fails to ubiquitinate AIMP2 efficiently, allowing its accumulation which may contribute to neurodegeneration associated with Parkinson disease. Accumulates in brains affected by autosomal- recessive juvenile parkinsonism, idiopathic Parkinson disease and diffuse Lewy body disease. Contains 1 GST C-terminal domain. Sequence=AAC50391.1; Type=Frameshift; Positions=312; protein binding nucleus cytoplasm cytosol translation tRNA aminoacylation for protein translation apoptotic process multicellular organism development negative regulation of cell proliferation membrane aminoacyl-tRNA synthetase multienzyme complex cell differentiation positive regulation of protein ubiquitination binding, bridging Type II pneumocyte differentiation macromolecular complex assembly positive regulation of neuron death positive regulation of aminoacyl-tRNA ligase activity  uc003spo.1 uc003spo.2 uc003spo.3 uc003spo.4 uc003spo.5 
ENST00000223051.8 TFR2 ENST00000223051.8 Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. (from RefSeq NM_003227) A6NGM7 ENST00000223051.1 ENST00000223051.2 ENST00000223051.3 ENST00000223051.4 ENST00000223051.5 ENST00000223051.6 ENST00000223051.7 NM_003227 O75422 Q1HE13 Q9HA99 Q9NX67 Q9UP52 TFR2_HUMAN uc003uvv.1 uc003uvv.2 uc003uvv.3 This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]. Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Homodimer. Cell membrane; Single-pass type II membrane protein. Isoform Beta: Cytoplasm (Probable). Note=Lacks the transmembrane domain. Probably intracellular. Event=Alternative splicing; Named isoforms=3; Name=Alpha; IsoId=Q9UP52-1; Sequence=Displayed; Name=Beta; IsoId=Q9UP52-2; Sequence=VSP_005354; Name=Gamma; IsoId=Q9UP52-3; Sequence=VSP_005355; Predominantly expressed in liver. While the alpha form is also expressed in spleen, lung, muscle, prostate and peripheral blood mononuclear cells, the beta form is expressed in all tissues tested, albeit weakly. Defects in TFR2 are a cause of hemochromatosis type 3 (HFE3) [MIM:604250]. HFE3 is a disorder of iron hemostasis resulting in iron overload and has a phenotype indistinguishable from that of hereditary hemochromatosis (HH). HH is characterized by abnormal intestinal iron absorption and progressive increase of total body iron, which results in midlife in clinical complications including cirrhosis, cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer. Since the disease complications can be effectively prevented by regular phlebotomies, early diagnosis is most important to provide a normal life expectancy to the affected subjects. The variant Lys-172 found in hereditary hemochromatosis type III affects the putative initiation codon of the beta isoform thus preventing its translation. Belongs to the peptidase M28 family. M28B subfamily. Sequence=BAA91153.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TFR2"; transferrin receptor activity protein binding cytoplasm plasma membrane integral component of plasma membrane iron ion transport cellular iron ion homeostasis receptor-mediated endocytosis acute-phase response external side of plasma membrane response to iron ion membrane integral component of membrane cytoplasmic vesicle transferrin transport co-receptor binding positive regulation of endocytosis positive regulation of transcription from RNA polymerase II promoter iron ion homeostasis cellular response to iron ion positive regulation of peptide hormone secretion positive regulation of protein maturation HFE-transferrin receptor complex  uc003uvv.1 uc003uvv.2 uc003uvv.3 
ENST00000223054.8 MOSPD3 ENST00000223054.8 Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA. (from RefSeq NM_001040097) A4D2D1 A6NG17 C9JE89 D6W5W1 ENST00000223054.1 ENST00000223054.2 ENST00000223054.3 ENST00000223054.4 ENST00000223054.5 ENST00000223054.6 ENST00000223054.7 MSPD3_HUMAN NM_001040097 O75423 O75424 O75425 uc003uvq.1 uc003uvq.2 uc003uvq.3 uc003uvq.4 This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O75425-1; Sequence=Displayed; Name=2; IsoId=O75425-2; Sequence=VSP_014053; Note=Gene prediction confirmed by EST data; Name=3; IsoId=O75425-3; Sequence=VSP_014054, VSP_014055; Note=Gene prediction confirmed by EST data; Name=4; IsoId=O75425-4; Sequence=VSP_044522; Note=Gene prediction confirmed by EST data; Contains 1 MSP domain. endoplasmic reticulum membrane plasma membrane heart development membrane integral component of membrane FFAT motif binding endoplasmic reticulum-plasma membrane tethering endoplasmic reticulum membrane organization  uc003uvq.1 uc003uvq.2 uc003uvq.3 uc003uvq.4 
ENST00000223061.6 PCOLCE ENST00000223061.6 Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA. (from RefSeq NM_002593) B2R9E1 ENST00000223061.1 ENST00000223061.2 ENST00000223061.3 ENST00000223061.4 ENST00000223061.5 NM_002593 O14550 PCOC1_HUMAN PCPE1 Q15113 uc003uvo.1 uc003uvo.2 uc003uvo.3 uc003uvo.4 uc003uvo.5 uc003uvo.6 Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.72099.1, BC000574.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223061.6/ ENSP00000223061.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds to the C-terminal propeptide of type I procollagen and enhances procollagen C-proteinase activity. C-terminal processed part of PCPE (CT-PCPE) may have an metalloproteinase inhibitory activity. Secreted. C-terminally processed at multiple positions. Contains 2 CUB domains. Contains 1 NTR domain. extracellular matrix structural constituent protein binding collagen binding extracellular region extracellular space proteolysis multicellular organism development heparin binding positive regulation of peptidase activity peptidase activator activity extracellular exosome cellular response to leukemia inhibitory factor  uc003uvo.1 uc003uvo.2 uc003uvo.3 uc003uvo.4 uc003uvo.5 uc003uvo.6 
ENST00000223073.6 RBM28 ENST00000223073.6 Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. (from RefSeq NM_018077) A4D100 ENST00000223073.1 ENST00000223073.2 ENST00000223073.3 ENST00000223073.4 ENST00000223073.5 NM_018077 Q53H65 Q96CV3 Q9NW13 RBM28_HUMAN uc031szb.1 uc031szb.2 The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK001239.1, SRR3476690.231180.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223073.6/ ENSP00000223073.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Nucleolar component of the spliceosomal ribonucleoprotein complexes. Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs). Nucleus, nucleolus. Ubiquitously expressed. Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES) [MIM:612079]. Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. Contains 4 RRM (RNA recognition motif) domains. nucleic acid binding RNA binding nucleus spliceosomal complex nucleolus mRNA processing RNA splicing ribonucleoprotein complex  uc031szb.1 uc031szb.2 
ENST00000223076.2 IRS3P ENST00000223076.2 insulin receptor substrate 3, pseudogene (from HGNC IRS3P) ENST00000223076.1 uc287bbv.1  uc287bbv.1 
ENST00000223084.7 LSM5 ENST00000223084.7 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8W8Y8) BC040717 ENST00000223084.1 ENST00000223084.2 ENST00000223084.3 ENST00000223084.4 ENST00000223084.5 ENST00000223084.6 F8W8Y8 F8W8Y8_HUMAN uc064cqd.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc064cqd.1 
ENST00000223095.5 SERPINE1 ENST00000223095.5 Serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis. (from UniProt P05121) ENST00000223095.1 ENST00000223095.2 ENST00000223095.3 ENST00000223095.4 NM_001386466 P05121 PAI1 PAI1_HUMAN PLANH1 uc003uxt.1 uc003uxt.2 uc003uxt.3 uc003uxt.4 uc003uxt.5 Serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis. Forms protease inhibiting heterodimer with TMPRSS7. Interacts with VTN. Binds LRP1B; binding is followed by internalization and degradation. P02763:ORM1; NbExp=4; IntAct=EBI-953978, EBI-976767; Secreted. Found in plasma and platelets and in endothelial, hepatoma and fibrosarcoma cells. Inactivated by proteolytic attack of the urokinase-type (u- PA) and the tissue-type (TPA), cleaving the 369-Arg-|-Met-370 bond. Defects in SERPINE1 are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1D) [MIM:613329]. It is a hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen. Note=High concentrations of SERPINE1 seem to contribute to the development of venous but not arterial occlusions. Belongs to the serpin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SERPINE1"; Name=Wikipedia; Note=Plasminogen activator inhibitor-1 entry; URL="http://en.wikipedia.org/wiki/Plasminogen_activator_inhibitor-1"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/serpine1/"; chronological cell aging angiogenesis protease binding platelet degranulation serine-type endopeptidase inhibitor activity receptor binding protein binding extracellular region extracellular space plasma membrane circadian rhythm negative regulation of peptidase activity regulation of receptor activity negative regulation of plasminogen activation negative regulation of endopeptidase activity negative regulation of smooth muscle cell migration positive regulation of blood coagulation negative regulation of blood coagulation extracellular matrix organization negative regulation of cell migration peptidase inhibitor activity platelet alpha granule lumen positive regulation of interleukin-8 production negative regulation of cell adhesion mediated by integrin positive regulation of leukotriene production involved in inflammatory response fibrinolysis positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter positive regulation of receptor-mediated endocytosis positive regulation of inflammatory response defense response to Gram-negative bacterium negative regulation of fibrinolysis negative regulation of vascular wound healing negative regulation of wound healing extracellular exosome cellular response to lipopolysaccharide positive regulation of monocyte chemotaxis replicative senescence dentinogenesis positive regulation of odontoblast differentiation negative regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of smooth muscle cell-matrix adhesion negative regulation of endothelial cell apoptotic process  uc003uxt.1 uc003uxt.2 uc003uxt.3 uc003uxt.4 uc003uxt.5 
ENST00000223114.9 MOGAT3 ENST00000223114.9 Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), transcript variant 1, mRNA. (from RefSeq NM_178176) DC7 DGAT2L7 ENST00000223114.1 ENST00000223114.2 ENST00000223114.3 ENST00000223114.4 ENST00000223114.5 ENST00000223114.6 ENST00000223114.7 ENST00000223114.8 MOGT3_HUMAN NM_178176 Q496A6 Q496A7 Q496A8 Q86VF5 Q9UDW7 UNQ9383/PRO34208 uc003uyc.1 uc003uyc.2 uc003uyc.3 uc003uyc.4 uc003uyc.5 uc003uyc.6 Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008]. Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. Acyl-CoA + 2-acylglycerol = CoA + diacylglycerol. Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol. Kinetic parameters: Vmax=9.3 nmol/min/mg enzyme with diacylglycerol as substrate; Vmax=22.8 nmol/min/mg enzyme with 2-monoacylglycerol as substrate; Glycerolipid metabolism; triacylglycerol biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86VF5-1; Sequence=Displayed; Name=2; IsoId=Q86VF5-2; Sequence=VSP_020361, VSP_020362; Note=No experimental confirmation available; Name=3; IsoId=Q86VF5-3; Sequence=VSP_020363; Note=No experimental confirmation available; Selectively expressed in the digestive system. Highly expressed in the ileum, and at lower level in jejunum, duodenum, colon, cecum and the rectum. Not expressed in the stomach and the esophagus and trachea. Expressed at very low level in liver. Belongs to the diacylglycerol acyltransferase family. Sequence=AAD45832.1; Type=Erroneous gene model prediction; 2-acylglycerol O-acyltransferase activity diacylglycerol O-acyltransferase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane glycerol metabolic process lipid metabolic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups triglyceride biosynthetic process perinuclear region of cytoplasm perinuclear endoplasmic reticulum membrane  uc003uyc.1 uc003uyc.2 uc003uyc.3 uc003uyc.4 uc003uyc.5 uc003uyc.6 
ENST00000223122.4 C1GALT1 ENST00000223122.4 Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development. (from UniProt Q9NS00) AF155582 C1GLT_HUMAN ENST00000223122.1 ENST00000223122.2 ENST00000223122.3 Q96QH4 Q9BTU1 Q9NS00 uc003sra.1 uc003sra.2 uc003sra.3 uc003sra.4 uc003sra.5 uc003sra.6 Glycosyltransferase that generates the core 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Plays a central role in many processes, such as angiogenesis, thrombopoiesis and kidney homeostasis development. UDP-alpha-D-galactose + glycoprotein N-acetyl- D-galactosamine = UDP + glycoprotein D-galactosyl-(1->3)-N-acetyl- D-galactosamine. Magnesium (By similarity). Protein modification; protein glycosylation. Homodimer; disulfide-linked (By similarity). Interacts with the C1GALT1C1 chaperone; required for galactosyltransferase activity. Membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NS00-1; Sequence=Displayed; Name=2; IsoId=Q9NS00-2; Sequence=VSP_024809; Note=No experimental confirmation available; Widely expressed. Highly expressed in kidney, heart, placenta and liver. Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN. Belongs to the glycosyltransferase 31 family. Beta3- Gal-T subfamily. Name=Functional Glycomics Gateway - GTase; Note=Core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3- galactosyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_447"; Golgi membrane angiogenesis kidney development protein binding protein glycosylation protein O-linked glycosylation multicellular organism development membrane integral component of membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity O-glycan processing O-glycan processing, core 1 transferase activity transferase activity, transferring glycosyl groups cell differentiation metal ion binding intestinal epithelial cell development  uc003sra.1 uc003sra.2 uc003sra.3 uc003sra.4 uc003sra.5 uc003sra.6 
ENST00000223127.8 PLOD3 ENST00000223127.8 Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA. (from RefSeq NM_001084) B2R6W6 ENST00000223127.1 ENST00000223127.2 ENST00000223127.3 ENST00000223127.4 ENST00000223127.5 ENST00000223127.6 ENST00000223127.7 NM_001084 O60568 PLOD3_HUMAN Q540C3 uc003uyd.1 uc003uyd.2 uc003uyd.3 uc003uyd.4 uc003uyd.5 The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC011674.2, AK075338.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223127.8/ ENSP00000223127.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links. L-lysine-[procollagen] + 2-oxoglutarate + O(2) = (2S,5R)-5-hydroxy-L-lysine-[procollagen] + succinate + CO(2). Iron. Ascorbate. Homodimer. Q9BQY4:RHOXF2; NbExp=2; IntAct=EBI-741582, EBI-372094; Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Defects in PLOD3 are the cause of lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]; also known as bone fragility with contractures arterial rupture and deafness. LH3 deficiency is a connective tissue disorder. The syndrome is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders, most of them involving COL2A1 (type II collagen). The findings suggest that the failure of lysyl hydroxylation and hydroxylysyl carbohydrate addition, which affects many collagens, is the molecular basis of this syndrome. Contains 1 Fe2OG dioxygenase domain. in utero embryonic development endothelial cell morphogenesis catalytic activity iron ion binding protein binding extracellular region extracellular space endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane rough endoplasmic reticulum Golgi apparatus trans-Golgi network protein O-linked glycosylation protein localization metabolic process procollagen-lysine 5-dioxygenase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen transferase activity transferase activity, transferring glycosyl groups peptidyl-lysine hydroxylation neural tube development collagen fibril organization L-ascorbic acid binding cellular response to hormone stimulus collagen metabolic process procollagen glucosyltransferase activity vasodilation metal ion binding hydroxylysine biosynthetic process epidermis morphogenesis procollagen galactosyltransferase activity dioxygenase activity oxidation-reduction process lung morphogenesis extracellular exosome basement membrane assembly  uc003uyd.1 uc003uyd.2 uc003uyd.3 uc003uyd.4 uc003uyd.5 
ENST00000223129.8 RPA3 ENST00000223129.8 Homo sapiens replication protein A3 (RPA3), mRNA. (from RefSeq NM_002947) ENST00000223129.1 ENST00000223129.2 ENST00000223129.3 ENST00000223129.4 ENST00000223129.5 ENST00000223129.6 ENST00000223129.7 NM_002947 P35244 Q549U6 REPA3 RFA3_HUMAN RPA14 uc003sri.1 uc003sri.2 uc003sri.3 uc003sri.4 Required for DNA recombination, repair and replication. The activity of RP-A is mediated by single-stranded DNA binding and protein interactions. Functions as component of the alternative replication protein A complex (aRPA). aRPA binds single-stranded DNA and probably plays a role in DNA repair; it does not support chromosomal DNA replication and cell cycle progression through S- phase. In vitro, aRPA cannot promote efficient priming by DNA polymerase alpha but supports DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange. Heterotrimer of 70, 32 and 14 kDa chains (canonical replication protein A complex). Component of the alternative replication protein A complex (aRPA) composed of RPA1, RPA3 and RPA4. The DNA-binding activity may reside exclusively on the 70 kDa subunit. Interacts with RPA4. P43351:RAD52; NbExp=2; IntAct=EBI-621428, EBI-706448; P27694:RPA1; NbExp=4; IntAct=EBI-621428, EBI-621389; P15927:RPA2; NbExp=3; IntAct=EBI-621428, EBI-621404; Nucleus. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rpa3/"; G1/S transition of mitotic cell cycle telomere maintenance double-strand break repair via homologous recombination DNA binding damaged DNA binding single-stranded DNA binding protein binding nucleus nucleoplasm DNA replication factor A complex DNA replication DNA repair transcription-coupled nucleotide-excision repair base-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling mismatch repair DNA recombination cellular response to DNA damage stimulus regulation of mitotic cell cycle translesion synthesis telomere maintenance via semi-conservative replication nucleotide-excision repair, DNA incision site of double-strand break interstrand cross-link repair regulation of cell proliferation error-prone translesion synthesis DNA damage response, detection of DNA damage error-free translesion synthesis regulation of cellular response to heat regulation of signal transduction by p53 class mediator  uc003sri.1 uc003sri.2 uc003sri.3 uc003sri.4 
ENST00000223136.5 FIS1 ENST00000223136.5 Homo sapiens fission, mitochondrial 1 (FIS1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016068) CGI-135 ENST00000223136.1 ENST00000223136.2 ENST00000223136.3 ENST00000223136.4 FIS1_HUMAN NM_016068 Q9BTP3 Q9Y3D6 TTC11 uc003uyj.1 uc003uyj.2 uc003uyj.3 uc003uyj.4 uc003uyj.5 uc003uyj.6 The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.347142.1, SRR1163655.172599.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465403 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000223136.5/ ENSP00000223136.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Promotes the fragmentation of the mitochondrial network and its perinuclear clustering. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission. Interacts with DNM1L/DLP1 through the TPR region. Interacts with MARCH5. Interacts with MID51. P51572:BCAP31; NbExp=8; IntAct=EBI-3385283, EBI-77683; Mitochondrion outer membrane; Single-pass membrane protein. Peroxisome membrane; Single-pass membrane protein. The C-terminus is required for mitochondrial or peroxisomal localization, while the N-terminus is necessary for mitochondrial or peroxisomal fission, localization and regulation of the interaction with DNM1L. Ubiquitinated by MARCH5. Belongs to the FIS1 family. Contains 1 TPR repeat. mitochondrial fission mitophagy release of cytochrome c from mitochondria protein binding mitochondrion mitochondrial outer membrane peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum protein targeting to mitochondrion apoptotic process positive regulation of cytosolic calcium ion concentration mitochondrial fusion regulation of mitochondrion organization response to muscle activity membrane integral component of membrane peroxisome fission integral component of mitochondrial outer membrane response to nutrient levels negative regulation of endoplasmic reticulum calcium ion concentration macromolecular complex calcium-mediated signaling using intracellular calcium source positive regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of neuron apoptotic process mitochondrial fragmentation involved in apoptotic process macromolecular complex binding protein homooligomerization positive regulation of mitochondrial calcium ion concentration mitochondrion morphogenesis cellular response to glucose stimulus cellular response to lipid positive regulation of mitochondrial fission positive regulation of protein targeting to membrane cellular response to toxic substance cellular response to peptide response to fluoride cellular response to thapsigargin response to flavonoid response to hypobaric hypoxia positive regulation of intrinsic apoptotic signaling pathway  uc003uyj.1 uc003uyj.2 uc003uyj.3 uc003uyj.4 uc003uyj.5 uc003uyj.6 
ENST00000223145.10 GLCCI1 ENST00000223145.10 Homo sapiens glucocorticoid induced 1 (GLCCI1), mRNA. (from RefSeq NM_138426) A4D103 ENST00000223145.1 ENST00000223145.2 ENST00000223145.3 ENST00000223145.4 ENST00000223145.5 ENST00000223145.6 ENST00000223145.7 ENST00000223145.8 ENST00000223145.9 GLCI1_HUMAN NM_138426 Q86VQ1 Q96FD0 uc003srk.1 uc003srk.2 uc003srk.3 uc003srk.4 uc003srk.5 uc003srk.6 This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC050291.1, SRR1163657.376342.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223145.10/ ENSP00000223145.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Predominantly expressed in lung, spleen, thymus and testis and, at lower levels, in brain, bone marrow, peripheral leukocytes, skin and trachea. Polymorphisms dbSNP:rs37972 and dbSNP:rs37973, located in GLCCI1 promoter region, are associated with a decreased response to glucorticoid treatment [MIM:614400] in asthma patients (PubMed:21991891), as well as in chronic obstructive pulmonary disease patients (PubMed:22187997). The mean increase in forced expiratory volume in 1 second in glucorticoid treated subjects who are homozygous for the mutant (G) rs37973 allele is only about one-third of that seen in similarly treated subjects who are homozygous for the wild-type allele (A) (PubMed:21991891). These polymorphisms affect GLCCI1 transcription level. cytoplasm  uc003srk.1 uc003srk.2 uc003srk.3 uc003srk.4 uc003srk.5 uc003srk.6 
ENST00000223167.5 MYL10 ENST00000223167.5 Homo sapiens myosin light chain 10 (MYL10), mRNA. (from RefSeq NM_138403) ENST00000223167.1 ENST00000223167.2 ENST00000223167.3 ENST00000223167.4 MYL10_HUMAN MYLC2PL NM_138403 PLRLC Q9BUA6 uc003uyr.1 uc003uyr.2 uc003uyr.3 uc003uyr.4 Myosin is a hexamer of 2 heavy chains and 4 light chains. This chain binds calcium (By similarity). Contains 3 EF-hand domains. calcium ion binding mitochondrion cytosol muscle contraction metal ion binding  uc003uyr.1 uc003uyr.2 uc003uyr.3 uc003uyr.4 
ENST00000223190.8 NRF1 ENST00000223190.8 Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. (from UniProt Q16656) BC016925 ENST00000223190.1 ENST00000223190.2 ENST00000223190.3 ENST00000223190.4 ENST00000223190.5 ENST00000223190.6 ENST00000223190.7 NRF1_HUMAN Q15305 Q16656 uc064hxm.1 Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. Homodimer. Binds DNA as a dimer. Interacts with PPRC1. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q16656-1; Sequence=Displayed; Name=Short; IsoId=Q16656-2; Sequence=VSP_003598; Ubiquitously expressed with strongest expression in skeletal muscle. Phosphorylation enhances DNA binding. Belongs to the NRF1/Ewg family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NRF1ID44233ch7q32.html"; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding core promoter sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytosol generation of precursor metabolites and energy regulation of transcription from RNA polymerase II promoter mitochondrion organization protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter extracellular exosome  uc064hxm.1 
ENST00000223208.10 CEP41 ENST00000223208.10 Homo sapiens centrosomal protein 41 (CEP41), transcript variant 5, non-coding RNA. (from RefSeq NR_046443) A4D1M0 B4DQ35 CEP41_HUMAN ENST00000223208.1 ENST00000223208.2 ENST00000223208.3 ENST00000223208.4 ENST00000223208.5 ENST00000223208.6 ENST00000223208.7 ENST00000223208.8 ENST00000223208.9 F5H0V6 NR_046443 Q7Z496 Q86TM1 Q8NFU8 Q9BYV8 Q9H6A3 Q9NPV3 TSGA14 uc003vpz.1 uc003vpz.2 uc003vpz.3 uc003vpz.4 uc003vpz.5 uc003vpz.6 This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]. Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating to the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Found in a complex with TTLL6. Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes mainly to the cilium basal body and in primary cilia. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=L-type; IsoId=Q9BYV8-1; Sequence=Displayed; Name=2; IsoId=Q9BYV8-2; Sequence=VSP_012248; Name=3; IsoId=Q9BYV8-3; Sequence=VSP_012245; Name=4; Synonyms=S-type; IsoId=Q9BYV8-4; Sequence=VSP_012246, VSP_012247; Name=5; IsoId=Q9BYV8-5; Sequence=VSP_042579, VSP_012248; Note=No experimental confirmation available; Isoform 1 and isoform 4 are expressed in testis and fetal tissues. Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive (PubMed:22246503). Defects in CEP41 are the cause of Joubert syndrome type 15 (JBTS15) [MIM:614464]. JBTS15 is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly. Note=Genetic variations in CEP41 may be associated with susceptibility to autism. Belongs to the CEP41 family. Contains 1 rhodanese domain. G2/M transition of mitotic cell cycle protein binding cytoplasm centrosome centriole microtubule organizing center cytosol cytoskeleton cilium regulation of G2/M transition of mitotic cell cycle protein transport membrane protein polyglutamylation cell projection organization ciliary basal body cell projection cilium assembly ciliary basal body docking  uc003vpz.1 uc003vpz.2 uc003vpz.3 uc003vpz.4 uc003vpz.5 uc003vpz.6 
ENST00000223210.5 ZNF862 ENST00000223210.5 Homo sapiens zinc finger protein 862 (ZNF862), mRNA. (from RefSeq NM_001099220) A0AUL8 ENST00000223210.1 ENST00000223210.2 ENST00000223210.3 ENST00000223210.4 KIAA0543 NM_001099220 O60290 ZN862_HUMAN uc010lpn.1 uc010lpn.2 uc010lpn.3 uc010lpn.4 uc010lpn.5 May be involved in transcriptional regulation (By similarity). Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60290-1; Sequence=Displayed; Name=2; IsoId=O60290-2; Sequence=VSP_031702, VSP_031703; Note=No experimental confirmation available; Contains 2 KRAB domains. Contains 2 TTF-type zinc fingers. molecular_function nucleic acid binding cellular_component nucleus regulation of transcription, DNA-templated biological_process metal ion binding protein dimerization activity  uc010lpn.1 uc010lpn.2 uc010lpn.3 uc010lpn.4 uc010lpn.5 
ENST00000223215.10 MEST ENST00000223215.10 Homo sapiens mesoderm specific transcript (MEST), transcript variant 1, mRNA. (from RefSeq NM_002402) B2R6S1 ENST00000223215.1 ENST00000223215.2 ENST00000223215.3 ENST00000223215.4 ENST00000223215.5 ENST00000223215.6 ENST00000223215.7 ENST00000223215.8 ENST00000223215.9 MEST_HUMAN NM_002402 O14973 O15007 PEG1 Q5EB52 Q6AI49 Q92571 uc003vqg.1 uc003vqg.2 uc003vqg.3 uc003vqg.4 uc003vqg.5 uc003vqg.6 This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]. Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5EB52-1; Sequence=Displayed; Name=2; Synonyms=Isoform b; IsoId=Q5EB52-2; Sequence=VSP_024532; Name=3; IsoId=Q5EB52-3; Sequence=VSP_024532, VSP_024533; Note=No experimental confirmation available; Highly expressed in hydatidiform moles, but barely expressed in dermoid cysts. Biallelic expression is detected in blood lymphocytes. Seems to imprinted in an isoform- specific manner rather than in a tissue-specific manner in lymphocytes. Isoform 1 is expressed only from the paternal allele. Isoform 2 is expressed from both the paternal allele and the maternal allele. Monoallelic expression of paternally derived allele was observed in all fetal tissues examined, including brain, skeletal muscle, kidney, adrenal, tongue, heart, skin and placenta. In 75-day fetus, expressed in the amnion, brain, heart, lung, stomach, gut, adrenal, kidney, muscle and liver. Belongs to the AB hydrolase superfamily. catalytic activity endoplasmic reticulum endoplasmic reticulum membrane mesoderm development regulation of lipid storage membrane integral component of membrane hydrolase activity extracellular exosome  uc003vqg.1 uc003vqg.2 uc003vqg.3 uc003vqg.4 uc003vqg.5 uc003vqg.6 
ENST00000223271.8 RARRES2 ENST00000223271.8 Homo sapiens retinoic acid receptor responder 2 (RARRES2), mRNA. (from RefSeq NM_002889) ENST00000223271.1 ENST00000223271.2 ENST00000223271.3 ENST00000223271.4 ENST00000223271.5 ENST00000223271.6 ENST00000223271.7 NM_002889 Q7LE02 Q99969 RARR2_HUMAN TIG2 uc003wha.1 uc003wha.2 uc003wha.3 uc003wha.4 uc003wha.5 This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U77594.2, BI824025.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223271.8/ ENSP00000223271.3 Protein has antimicrobial activity :: PMID: 24660117 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted (Potential). Highly expressed in skin (basal and suprabasal layers of the epidermis, hair follicles and endothelial cells). Also found in pancreas, liver, spleen, prostate, ovary, small intestine and colon. Inhibited in psoriatic lesions. Activated by tazarotene in skin rafts and in the epidermis of psoriatic lesions. retinoid metabolic process positive regulation of protein phosphorylation platelet degranulation receptor binding protein binding extracellular region extracellular space chemotaxis inflammatory response insulin receptor signaling pathway positive regulation of macrophage chemotaxis antifungal humoral response cell differentiation platelet dense granule lumen innate immune response positive regulation of fat cell differentiation embryonic digestive tract development defense response to Gram-negative bacterium defense response to Gram-positive bacterium positive regulation of chemotaxis regulation of lipid catabolic process antifungal innate immune response  uc003wha.1 uc003wha.2 uc003wha.3 uc003wha.4 uc003wha.5 
ENST00000223273.7 YAE1 ENST00000223273.7 Homo sapiens YAE1 maturation factor of ABCE1 (YAE1), transcript variant 1, mRNA. (from RefSeq NM_020192) A4D1W4 C7orf36 ENST00000223273.1 ENST00000223273.2 ENST00000223273.3 ENST00000223273.4 ENST00000223273.5 ENST00000223273.6 GK003 NM_020192 Q6IAF7 Q8WVZ5 Q9NRH1 YAE1D1 YAED1_HUMAN uc003thc.1 uc003thc.2 uc003thc.3 uc003thc.4 uc003thc.5 uc003thc.6 nucleus cytoplasm  uc003thc.1 uc003thc.2 uc003thc.3 uc003thc.4 uc003thc.5 uc003thc.6 
ENST00000223293.10 GIMAP2 ENST00000223293.10 Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. (from RefSeq NM_015660) ENST00000223293.1 ENST00000223293.2 ENST00000223293.3 ENST00000223293.4 ENST00000223293.5 ENST00000223293.6 ENST00000223293.7 ENST00000223293.8 ENST00000223293.9 GIMA2_HUMAN IMAP2 NM_015660 Q96L25 Q9UG22 uc003who.1 uc003who.2 uc003who.3 uc003who.4 uc003who.5 This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.375681.1, SRR1163655.551100.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223293.10/ ENSP00000223293.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Monomer in the presence of bound GDP and in the absence of bound nucleotide. Homodimer in the presence of bound GTP. Can form linear oligomers. Membrane; Multi-pass membrane protein (Potential). Cytoplasm. Note=Detected on the surface of cytoplasmic lipid droplets. Belongs to the IAN GTP-binding protein family. nucleotide binding protein binding GTP binding endoplasmic reticulum lipid particle identical protein binding  uc003who.1 uc003who.2 uc003who.3 uc003who.4 uc003who.5 
ENST00000223321.9 PSMA2 ENST00000223321.9 Homo sapiens proteasome 20S subunit alpha 2 (PSMA2), mRNA. (from RefSeq NM_002787) ENST00000223321.1 ENST00000223321.2 ENST00000223321.3 ENST00000223321.4 ENST00000223321.5 ENST00000223321.6 ENST00000223321.7 ENST00000223321.8 HC3 NM_002787 P25787 PSA2_HUMAN PSC3 Q6ICS6 Q9BU45 uc003thy.1 uc003thy.2 uc003thy.3 uc003thy.4 uc003thy.5 uc003thy.6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1082236.1, SRR3476690.13824.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223321.9/ ENSP00000223321.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. PSMA2 may have a potential regulatory effect on another component(s) of the proteasome complex through tyrosine phosphorylation. Cleavage of peptide bonds with very broad specificity. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is composed of 28 subunits that are arranged in four stacked rings, resulting in a barrel-shaped structure. The two end rings are each formed by seven alpha subunits, and the two central rings are each formed by seven beta subunits. The catalytic chamber with the active sites is on the inside of the barrel. P25786:PSMA1; NbExp=5; IntAct=EBI-603262, EBI-359352; P25789:PSMA4; NbExp=6; IntAct=EBI-603262, EBI-359310; P60900:PSMA6; NbExp=3; IntAct=EBI-603262, EBI-357793; O14818:PSMA7; NbExp=2; IntAct=EBI-603262, EBI-603272; Cytoplasm. Nucleus. Down-regulated by antioxidants BO-653 and probucol. Down-regulated in response to enterovirus 71 (EV71) infection (at protein level). Phosphorylated on tyrosine residues; which may be important for nuclear import (By similarity). Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex P-body stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity response to virus proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway secretory granule lumen NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process neutrophil degranulation regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation ficolin-1-rich granule lumen  uc003thy.1 uc003thy.2 uc003thy.3 uc003thy.4 uc003thy.5 uc003thy.6 
ENST00000223324.3 MRPL32 ENST00000223324.3 Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), transcript variant 2, non-coding RNA. (from RefSeq NR_156497) ENST00000223324.1 ENST00000223324.2 HSPC283 NR_156497 Q96Q68 Q9BYC8 Q9P098 RM32_HUMAN uc003tia.1 uc003tia.2 uc003tia.3 uc003tia.4 uc003tia.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.50406.1, AW379023.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Mitochondrion. Belongs to the ribosomal protein L32P family. RNA binding structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial ribosome mitochondrial large ribosomal subunit ribosome translation large ribosomal subunit mitochondrial translational elongation mitochondrial translational termination  uc003tia.1 uc003tia.2 uc003tia.3 uc003tia.4 uc003tia.5 
ENST00000223336.11 COA1 ENST00000223336.11 Homo sapiens cytochrome c oxidase assembly factor 1 homolog (COA1), transcript variant 39, non-coding RNA. (from RefSeq NR_163915) A6NJU8 A8KAH8 C7orf44 COA1_HUMAN ENST00000223336.1 ENST00000223336.10 ENST00000223336.2 ENST00000223336.3 ENST00000223336.4 ENST00000223336.5 ENST00000223336.6 ENST00000223336.7 ENST00000223336.8 ENST00000223336.9 NR_163915 Q9GZY4 Q9HAB7 Q9NVD2 uc003tin.1 uc003tin.2 uc003tin.3 Interacts with COX17 and C1orf31. Mitochondrion membrane; Single-pass membrane protein. Belongs to the COA1 family. mitochondrion mitochondrial inner membrane cytosol membrane integral component of membrane integral component of mitochondrial inner membrane mitochondrial respiratory chain complex I assembly mitochondrial respiratory chain complex IV assembly  uc003tin.1 uc003tin.2 uc003tin.3 
ENST00000223357.8 AEBP1 ENST00000223357.8 Homo sapiens AE binding protein 1 (AEBP1), mRNA. (from RefSeq NM_001129) ACLP AEBP1_HUMAN ENST00000223357.1 ENST00000223357.2 ENST00000223357.3 ENST00000223357.4 ENST00000223357.5 ENST00000223357.6 ENST00000223357.7 NM_001129 Q14113 Q59ER7 Q6ZSC7 Q7KZ79 Q8IUX7 uc003tkb.1 uc003tkb.2 uc003tkb.3 uc003tkb.4 uc003tkb.5 uc003tkb.6 This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC038588.1, AB209744.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223357.8/ ENSP00000223357.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation (By similarity). May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I- kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness (By similarity). Can act as a transcriptional repressor (By similarity). Interacts with GNG5, NFKBIA, MAPK1, MAPK3 and PTEN (By similarity). May interact with calmodulin (By similarity). Binds to DNA in vitro (By similarity). Isoform 1: Secreted (By similarity). Isoform 2: Cytoplasm (Probable). Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IUX7-1; Sequence=Displayed; Name=2; IsoId=Q8IUX7-2; Sequence=VSP_033467, VSP_033468, VSP_033469; Note=No experimental confirmation available; Expressed in osteoblast and visceral fat. Phosphorylated by MAPK1 in vitro (By similarity). Belongs to the peptidase M14 family. Contains 1 F5/8 type C domain. This protein has lost active site residues and zinc- binding sites and so is unlikely to be catalytically active. Sequence=BAD92981.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription corepressor activity carboxypeptidase activity metallocarboxypeptidase activity extracellular matrix structural constituent calmodulin binding collagen binding extracellular region extracellular space nucleus cytoplasm regulation of transcription, DNA-templated proteolysis peptide metabolic process zinc ion binding protein processing extracellular exosome regulation of collagen fibril organization  uc003tkb.1 uc003tkb.2 uc003tkb.3 uc003tkb.4 uc003tkb.5 uc003tkb.6 
ENST00000223361.7 POLD2 ENST00000223361.7 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt C9JLE1) AK292347 C9JLE1 C9JLE1_HUMAN ENST00000223361.1 ENST00000223361.2 ENST00000223361.3 ENST00000223361.4 ENST00000223361.5 ENST00000223361.6 uc064dfx.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleoplasm  uc064dfx.1 
ENST00000223364.7 MYL7 ENST00000223364.7 Homo sapiens myosin light chain 7 (MYL7), mRNA. (from RefSeq NM_021223) B2R4L3 ENST00000223364.1 ENST00000223364.2 ENST00000223364.3 ENST00000223364.4 ENST00000223364.5 ENST00000223364.6 MLRA_HUMAN MYL2A MYLC2A NM_021223 Q01449 uc003tkg.1 uc003tkg.2 uc003tkg.3 uc003tkg.4 Myosin is a hexamer of 2 heavy chains and 4 light chains. Predominantly expressed in adult atrial muscle. This chain binds calcium. Contains 3 EF-hand domains. calcium ion binding protein binding cytosol muscle contraction myosin complex A band dendritic spine metal ion binding  uc003tkg.1 uc003tkg.2 uc003tkg.3 uc003tkg.4 
ENST00000223368.7 BCL7B ENST00000223368.7 Homo sapiens BAF chromatin remodeling complex subunit BCL7B (BCL7B), transcript variant 1, mRNA. (from RefSeq NM_001707) A8K226 BCL7B_HUMAN D3DXF0 ENST00000223368.1 ENST00000223368.2 ENST00000223368.3 ENST00000223368.4 ENST00000223368.5 ENST00000223368.6 NM_001707 O43769 Q13845 Q6ZW75 Q9BQE9 uc003tyf.1 uc003tyf.2 uc003tyf.3 uc003tyf.4 This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]. May play a role in lung tumor development or progression. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BQE9-1; Sequence=Displayed; Name=2; IsoId=Q9BQE9-2; Sequence=VSP_019276, VSP_019277; Note=No experimental confirmation available; Name=3; IsoId=Q9BQE9-3; Sequence=VSP_019278, VSP_019279; Ubiquitous. Note=BCL7B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations. Belongs to the BCL7 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL7BID779ch7q11.html"; actin binding protein binding cellular_component apoptotic process biological_process Wnt signaling pathway cell differentiation  uc003tyf.1 uc003tyf.2 uc003tyf.3 uc003tyf.4 
ENST00000223369.3 YKT6 ENST00000223369.3 Homo sapiens YKT6 v-SNARE homolog (YKT6), transcript variant 1, mRNA. (from RefSeq NM_006555) ENST00000223369.1 ENST00000223369.2 NM_006555 O15498 Q53F01 Q6FGU9 Q6IB15 YKT6_HUMAN uc003tkm.1 uc003tkm.2 uc003tkm.3 uc003tkm.4 uc003tkm.5 This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.938251.1, SRR3476690.962189.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223369.3/ ENSP00000223369.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Vesicular soluble NSF attachment protein receptor (v- SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity. Identified in 2 different SNARE complexes; the first one composed of GOSR1, GOSR2 and STX5 and the second one composed of BET1L, GOSR1 and STX5 (By similarity). Cytoplasm, cytosol. Cytoplasmic vesicle membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus membrane; Lipid-anchor; Cytoplasmic side. Note=Probably cycles through vesicles between Golgi and endosomes. The longin domain regulates palmitoylation and membrane targeting. Palmitoylated; catalyzes its own palmitoylation. Palmitoylation is required for Golgi targeting. Farnesylation is required for Golgi targeting. Belongs to the synaptobrevin family. Contains 1 longin domain. Contains 1 v-SNARE coiled-coil homology domain. Golgi membrane SNAP receptor activity cytoplasm mitochondrion endosome endoplasmic reticulum Golgi apparatus cytosol integral component of plasma membrane ER to Golgi vesicle-mediated transport vesicle targeting vesicle docking involved in exocytosis protein transport membrane integral component of membrane vesicle-mediated transport transferase activity protein-cysteine S-palmitoyltransferase activity transport vesicle cytoplasmic vesicle membrane SNARE complex cytoplasmic vesicle endoplasmic reticulum-Golgi intermediate compartment membrane retrograde transport, endosome to Golgi neuronal cell body cadherin binding membrane fusion apical dendrite basilar dendrite  uc003tkm.1 uc003tkm.2 uc003tkm.3 uc003tkm.4 uc003tkm.5 
ENST00000223398.11 CLIP2 ENST00000223398.11 Homo sapiens CAP-Gly domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. (from RefSeq NM_003388) CLIP2_HUMAN CYLN2 ENST00000223398.1 ENST00000223398.10 ENST00000223398.2 ENST00000223398.3 ENST00000223398.4 ENST00000223398.5 ENST00000223398.6 ENST00000223398.7 ENST00000223398.8 ENST00000223398.9 KIAA0291 NM_003388 O14527 O43611 Q9UDT6 WBSCR3 WBSCR4 WSCR4 uc003uam.1 uc003uam.2 uc003uam.3 uc003uam.4 The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]. Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity). Interacts with CLASP1 and CLASP2. Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associated with the cytoskeleton (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UDT6-1; Sequence=Displayed; Name=2; IsoId=Q9UDT6-2; Sequence=VSP_015682; Note=CLIP2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of CLIP2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Contains 2 CAP-Gly domains. Sequence=BAA22960.2; Type=Erroneous initiation; cytoplasm cytoskeleton microtubule microtubule associated complex cytoplasmic microtubule microtubule binding microtubule plus-end microtubule plus-end binding  uc003uam.1 uc003uam.2 uc003uam.3 uc003uam.4 
ENST00000223423.8 PTGS1 ENST00000223423.8 Homo sapiens prostaglandin-endoperoxide synthase 1 (PTGS1), transcript variant 2, mRNA. (from RefSeq NM_080591) A8K1V7 COX1 ENST00000223423.1 ENST00000223423.2 ENST00000223423.3 ENST00000223423.4 ENST00000223423.5 ENST00000223423.6 ENST00000223423.7 NM_080591 P23219 PGH1_HUMAN Q15122 Q5T7T6 Q5T7T7 Q5T7T8 uc004bmf.1 uc004bmf.2 uc004bmf.3 This is one of two genes encoding similar enzymes that catalyze the conversion of arachinodate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. May play an important role in regulating or promoting cell proliferation in some normal and neoplastically transformed cells. Arachidonate + AH(2) + 2 O(2) = prostaglandin H(2) + A + H(2)O. Binds 1 heme B (iron-protoporphyrin IX) group per subunit (By similarity). Lipid metabolism; prostaglandin biosynthesis. Homodimer. Microsome membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P23219-1; Sequence=Displayed; Name=Short; IsoId=P23219-2; Sequence=VSP_004673; This enzyme acts both as a dioxygenase and as a peroxidase. This enzyme is the target of nonsteroidal anti- inflammatory drugs such as aspirin. Belongs to the prostaglandin G/H synthase family. Contains 1 EGF-like domain. Sequence=CAI14716.1; Type=Erroneous gene model prediction; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ptgs1/"; prostaglandin biosynthetic process photoreceptor outer segment peroxidase activity prostaglandin-endoperoxide synthase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process prostaglandin metabolic process xenobiotic metabolic process inflammatory response response to oxidative stress regulation of blood pressure membrane oxidoreductase activity cyclooxygenase pathway heme binding organelle membrane regulation of cell proliferation intracellular membrane-bounded organelle metal ion binding dioxygenase activity oxidation-reduction process extracellular exosome cellular oxidant detoxification  uc004bmf.1 uc004bmf.2 uc004bmf.3 
ENST00000223428.9 ZNF510 ENST00000223428.9 Homo sapiens zinc finger protein 510 (ZNF510), transcript variant 2, mRNA. (from RefSeq NM_014930) ENST00000223428.1 ENST00000223428.2 ENST00000223428.3 ENST00000223428.4 ENST00000223428.5 ENST00000223428.6 ENST00000223428.7 ENST00000223428.8 KIAA0972 NM_014930 Q5SZP5 Q9Y2H8 ZN510_HUMAN uc004awn.1 uc004awn.2 This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]. May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 10 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAA76816.2; Type=Erroneous initiation; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc004awn.1 uc004awn.2 
ENST00000223459.11 ZNF688 ENST00000223459.11 Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA. (from RefSeq NM_145271) B3KV51 ENST00000223459.1 ENST00000223459.10 ENST00000223459.2 ENST00000223459.3 ENST00000223459.4 ENST00000223459.5 ENST00000223459.6 ENST00000223459.7 ENST00000223459.8 ENST00000223459.9 NM_145271 O75701 P0C7X2 Q8IW91 Q8WV14 Q96MN0 ZN688_HUMAN uc002dyt.1 uc002dyt.2 uc002dyt.3 uc002dyt.4 uc002dyt.5 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 2 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAC31673.1; Type=Erroneous gene model prediction; Note=The predicted gene has been split into 2 genes: ZNF688 and ZNF785; molecular_function nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding cellular_component nucleus regulation of transcription, DNA-templated biological_process sequence-specific DNA binding metal ion binding  uc002dyt.1 uc002dyt.2 uc002dyt.3 uc002dyt.4 uc002dyt.5 
ENST00000223500.9 CHMP5 ENST00000223500.9 Homo sapiens charged multivesicular body protein 5 (CHMP5), transcript variant 1, mRNA. (from RefSeq NM_016410) B2RD95 B4DIR6 C9orf83 CGI-34 CHMP5_HUMAN ENST00000223500.1 ENST00000223500.2 ENST00000223500.3 ENST00000223500.4 ENST00000223500.5 ENST00000223500.6 ENST00000223500.7 ENST00000223500.8 HSPC177 NM_016410 PNAS-114 PNAS-2 Q5VXW2 Q96AV2 Q9HB68 Q9NYS4 Q9NZZ3 Q9Y323 SNF7DC2 uc003zsm.1 uc003zsm.2 uc003zsm.3 uc003zsm.4 uc003zsm.5 uc003zsm.6 CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]. Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT- III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with VTA1. Interacts with CHMP2A. Interacts with VTA1; the interaction involves soluble CHMP5. O95630:STAMBP; NbExp=2; IntAct=EBI-751303, EBI-396676; Cytoplasm, cytosol. Endosome membrane; Peripheral membrane protein (Probable). Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZZ3-1; Sequence=Displayed; Name=2; IsoId=Q9NZZ3-2; Sequence=VSP_042556; Note=No experimental confirmation available; Belongs to the SNF7 family. Sequence=AAG23821.1; Type=Erroneous initiation; regulation of receptor recycling protein binding nucleus cytoplasm endosome cytosol nucleus organization vacuolar transport lysosome organization mitotic metaphase plate congression endosome to lysosome transport endosome membrane regulation of centrosome duplication protein transport membrane endosomal transport viral life cycle multivesicular body assembly cadherin binding viral budding extracellular exosome cellular response to lipopolysaccharide cellular response to muramyl dipeptide multivesicular body sorting pathway regulation of mitotic spindle assembly ESCRT III complex disassembly  uc003zsm.1 uc003zsm.2 uc003zsm.3 uc003zsm.4 uc003zsm.5 uc003zsm.6 
ENST00000223517.9 SPATA6L ENST00000223517.9 spermatogenesis associated 6 like (from HGNC SPATA6L) AK301790 ENST00000223517.1 ENST00000223517.2 ENST00000223517.3 ENST00000223517.4 ENST00000223517.5 ENST00000223517.6 ENST00000223517.7 ENST00000223517.8 uc064rym.1  uc064rym.1 
ENST00000223528.6 FKTN ENST00000223528.6 Homo sapiens fukutin (FKTN), transcript variant 12, non-coding RNA. (from RefSeq NR_147214) ENST00000223528.1 ENST00000223528.2 ENST00000223528.3 ENST00000223528.4 ENST00000223528.5 FCMD FKTN_HUMAN NR_147214 O75072 Q3MIJ1 Q96TE1 Q9P295 uc004bcs.1 uc004bcs.2 uc004bcs.3 The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.267492.1 [ECO:0000332] ##Evidence-Data-END## May be a glycosyltransferase which participates in glycosylation of alpha-dystroglycan/DAG1. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A4 (MDDGA4) [MIM:253800]; also called congenital muscular dystrophy Fukuyama type (FCMD) or Walker-Warburg syndrome FKTN-related. MDDGA4 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies. Patients suffer from generalized skeletal muscle weakness and hypotonia from early infancy, mental retardation and seizures. Occasional features include optic atrophy, retinal detachment, cardiomyopathy. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy congenital without mental retardation type B4 (MDDGB4) [MIM:613152]. An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI in some cases, and absence of mental retardation. Defects in FKTN are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C4 (MDDGC4) [MIM:611588]. MDDGC4 is an autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles and elevated serum creatine kinase. The severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood. MDDGC4 is a novel form of LGMD2 and has no brain involvement and a remarkable clinical response to corticosteroids. Defects in FKTN are the cause of cardiomyopathy dilated type 1X (CMD1X) [MIM:611615]; also called dilated cardiomyopathy with mild or no proximal muscle weakness. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the LicD transferase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FKTN"; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane protein binding extracellular space nucleus cytoplasm endoplasmic reticulum Golgi apparatus cis-Golgi network protein glycosylation protein O-linked glycosylation nervous system development muscle organ development negative regulation of cell proliferation membrane integral component of membrane transferase activity integral component of Golgi membrane protein O-linked mannosylation negative regulation of JNK cascade regulation of protein glycosylation  uc004bcs.1 uc004bcs.2 uc004bcs.3 
ENST00000223641.5 SEC61B ENST00000223641.5 Homo sapiens SEC61 translocon subunit beta (SEC61B), mRNA. (from RefSeq NM_006808) ENST00000223641.1 ENST00000223641.2 ENST00000223641.3 ENST00000223641.4 NM_006808 P38390 P38391 P60468 Q6IBC1 SC61B_HUMAN uc004azh.1 uc004azh.2 uc004azh.3 uc004azh.4 uc004azh.5 The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279854.286.1, SRR1660807.58439.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223641.5/ ENSP00000223641.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Necessary for protein translocation in the endoplasmic reticulum. Heterotrimeric complex composed of SEC61-alpha, SEC61- beta and SEC61-gamma. Part of a complex composed of SEC61, SEC62 and SEC63. Interacts with SEC62. P51572:BCAP31; NbExp=7; IntAct=EBI-1788819, EBI-77683; Endoplasmic reticulum membrane; Single-pass membrane protein. Belongs to the SEC61-beta family. RNA binding ARF guanyl-nucleotide exchange factor activity protein binding endoplasmic reticulum Sec61 translocon complex endoplasmic reticulum membrane cytosol SRP-dependent cotranslational protein targeting to membrane, translocation intracellular protein transport protein transport membrane integral component of membrane ER-associated ubiquitin-dependent protein catabolic process retrograde protein transport, ER to cytosol posttranslational protein targeting to membrane, translocation endoplasmic reticulum Sec complex epidermal growth factor binding P-P-bond-hydrolysis-driven protein transmembrane transporter activity  uc004azh.1 uc004azh.2 uc004azh.3 uc004azh.4 uc004azh.5 
ENST00000223642.3 C5 ENST00000223642.3 Homo sapiens complement C5 (C5), transcript variant 1, mRNA. (from RefSeq NM_001735) CO5_HUMAN CPAMD4 ENST00000223642.1 ENST00000223642.2 NM_001735 P01031 Q14CJ0 Q27I61 uc004bkv.1 uc004bkv.2 uc004bkv.3 uc004bkv.4 uc004bkv.5 This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled. Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes. C5a also stimulates the locomotion of polymorphonuclear leukocytes (chemokinesis) and direct their migration toward sites of inflammation (chemotaxis). C5 precursor is first processed by the removal of 4 basic residues, forming two chains, beta and alpha, linked by a disulfide bond. C5 convertase activates C5 by cleaving the alpha chain, releasing C5a anaphylatoxin and generating C5b (beta chain + alpha' chain). Interacts with tick complement inhibitor. Secreted. Defects in C5 are the cause of complement component 5 deficiency (C5D) [MIM:609536]. A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Note=An association study of C5 haplotypes and genotypes in individuals with chronic hepatitis C virus infection shows that individuals homozygous for the C5_1 haplotype have a significantly higher stage of liver fibrosis than individuals carrying at least 1 other allele (PubMed:15995705). Contains 1 anaphylatoxin-like domain. Contains 1 NTR domain. Name=C5base; Note=C5 mutation db; URL="http://bioinf.uta.fi/C5base/"; Name=Wikipedia; Note=Complement C5 entry; URL="http://en.wikipedia.org/wiki/Complement_component_5"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c5/"; activation of MAPK activity immune system process endopeptidase inhibitor activity receptor binding protein binding extracellular region membrane attack complex extracellular space chemotaxis inflammatory response complement activation complement activation, alternative pathway complement activation, classical pathway cell surface receptor signaling pathway G-protein coupled receptor signaling pathway chemokine activity positive regulation of vascular endothelial growth factor production negative regulation of macrophage chemotaxis negative regulation of endopeptidase activity cytolysis regulation of complement activation innate immune response cell chemotaxis extracellular exosome positive regulation of chemokine secretion  uc004bkv.1 uc004bkv.2 uc004bkv.3 uc004bkv.4 uc004bkv.5 
ENST00000223791.7 AKNA ENST00000223791.7 Transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development. Binds to A/T-rich promoters. (from UniProt Q7Z591) AK074040 AKNA_HUMAN ENST00000223791.1 ENST00000223791.2 ENST00000223791.3 ENST00000223791.4 ENST00000223791.5 ENST00000223791.6 KIAA1968 Q05BK5 Q5T535 Q5T536 Q5T537 Q64FX6 Q64FX7 Q64FX8 Q64FY2 Q6ZMK0 Q6ZNL2 Q6ZTX0 Q7Z591 Q8TET1 Q8TF33 Q96RR9 Q9H7P7 uc004bio.1 uc004bio.2 uc004bio.3 uc004bio.4 uc004bio.5 Transcription factor that specifically activates the expression of the CD40 receptor and its ligand CD40L/CD154, two cell surface molecules on lymphocytes that are critical for antigen-dependent-B-cell development. Binds to A/T-rich promoters. Nucleus. Event=Alternative splicing; Named isoforms=8; Name=1; Synonyms=B2, D; IsoId=Q7Z591-1; Sequence=Displayed; Name=2; Synonyms=E; IsoId=Q7Z591-2; Sequence=VSP_025936; Name=3; IsoId=Q7Z591-3; Sequence=VSP_025939; Name=4; IsoId=Q7Z591-4; Sequence=VSP_025932, VSP_025940; Note=No experimental confirmation available; Name=5; Synonyms=F1; IsoId=Q7Z591-5; Sequence=VSP_025933; Name=6; IsoId=Q7Z591-6; Sequence=VSP_025937, VSP_025938; Name=7; Synonyms=A; IsoId=Q7Z591-7; Sequence=VSP_025935; Name=8; IsoId=Q7Z591-8; Sequence=VSP_025934; Predominantly expressed by lymphoid tissues. Highly expressed in the spleen, lymph nodes and peripheral blood leukocytes, expressed at lower level in the thymus. Mainly expressed by germinal center B-lymphocytes, a stage in which receptor and ligand interactions are crucial for B-lymphocyte maturation. Expressed by B- and T-lymphocytes, Natural killer cells and CD1a(+)CD14(-) but not CD1a(-)CD14(+) dendritic cells. Weakly or not expressed in fetal liver and in adult bone marrow. Contains 1 A.T hook DNA-binding domain. Sequence=AAK83024.1; Type=Frameshift; Positions=1228; Sequence=AAU34192.1; Type=Frameshift; Positions=1227; Sequence=BAB84866.1; Type=Erroneous initiation; Sequence=BAB85554.1; Type=Erroneous initiation; Sequence=BAC85132.1; Type=Frameshift; Positions=1340; Sequence=BAD18725.1; Type=Frameshift; Positions=820, 1017, 1340, 1387, 1434; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center epithelial to mesenchymal transition DNA binding nucleus nucleoplasm cytoplasm centrosome centriole cytosol cytoskeleton microtubule nervous system development membrane neuroblast division in subventricular zone intracellular membrane-bounded organelle positive regulation of transcription from RNA polymerase II promoter regulation of inflammatory response delamination neuroblast delamination  uc004bio.1 uc004bio.2 uc004bio.3 uc004bio.4 uc004bio.5 
ENST00000223795.3 TNFSF8 ENST00000223795.3 Homo sapiens TNF superfamily member 8 (TNFSF8), transcript variant 1, mRNA. (from RefSeq NM_001244) ENST00000223795.1 ENST00000223795.2 NM_001244 Q52M88 Q52M88_HUMAN RP11-78H18.3-001 hCG_29853 uc004bji.1 uc004bji.2 uc004bji.3 uc004bji.4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. cytokine activity tumor necrosis factor receptor binding extracellular space immune response signal transduction membrane integral component of membrane CD8-positive, alpha-beta T cell differentiation positive regulation of transcription from RNA polymerase II promoter defense response to Gram-positive bacterium  uc004bji.1 uc004bji.2 uc004bji.3 uc004bji.4 
ENST00000223836.10 AK1 ENST00000223836.10 Homo sapiens adenylate kinase 1 (AK1), transcript variant 3, mRNA. (from RefSeq NM_001318122) ADK ENST00000223836.1 ENST00000223836.2 ENST00000223836.3 ENST00000223836.4 ENST00000223836.5 ENST00000223836.6 ENST00000223836.7 ENST00000223836.8 ENST00000223836.9 NM_001318122 Q5T9B7 Q5T9B7_HUMAN RP11-203J24.1-009 uc064vyn.1 This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]. Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. This small ubiquitous enzyme involved in the energy metabolism and nucleotide synthesis, is essential for maintenance and cell growth (By similarity). ATP + AMP = 2 ADP. Purine metabolism; AMP biosynthesis via salvage pathway; AMP from ADP: step 1/1. Monomer (By similarity). Cytoplasm (By similarity). Consists of three domains, a large central CORE domain and two small peripheral domains, AMP binding and LID. The LID domain closes over the site of phosphoryl transfer upon ATP binding (By similarity). Belongs to the adenylate kinase family. nucleotide binding outer dense fiber adenylate kinase activity nucleoside diphosphate kinase activity ATP binding cytoplasm cytosol plasma membrane nucleobase-containing compound metabolic process nucleoside diphosphate phosphorylation ADP biosynthetic process cell cycle arrest nucleoside triphosphate biosynthetic process kinase activity phosphorylation transferase activity nucleobase-containing compound kinase activity sperm flagellum AMP metabolic process ATP metabolic process nucleoside monophosphate phosphorylation  uc064vyn.1 
ENST00000223862.2 RLN1 ENST00000223862.2 Homo sapiens relaxin 1 (RLN1), mRNA. (from RefSeq NM_006911) ENST00000223862.1 NM_006911 P04808 Q99936 Q9UQJ1 REL1_HUMAN uc003zjb.1 uc003zjb.2 uc003zjb.3 uc003zjb.4 Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC005956.1, X00949.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145240, SAMEA2153427 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000223862.2/ ENSP00000223862.1 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix. Heterodimer of a B chain and an A chain linked by two disulfide bonds. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04808-1; Sequence=Displayed; Name=2; IsoId=P04808-2; Sequence=VSP_002709, VSP_002710; Prostate. Not expressed in placenta, decidua or ovary. Belongs to the insulin family. hormone activity extracellular region signal transduction female pregnancy  uc003zjb.1 uc003zjb.2 uc003zjb.3 uc003zjb.4 
ENST00000223864.7 PLGRKT ENST00000223864.7 Homo sapiens plasminogen receptor with a C-terminal lysine (PLGRKT), mRNA. (from RefSeq NM_018465) AD025 B2R6W0 C9orf46 ENST00000223864.1 ENST00000223864.2 ENST00000223864.3 ENST00000223864.4 ENST00000223864.5 ENST00000223864.6 MDS030 NM_018465 PLRKT_HUMAN Q9HBL7 Q9NZ44 uc003zjc.1 uc003zjc.2 uc003zjc.3 uc003zjc.4 uc003zjc.5 uc003zjc.6 Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metallproteinase activation, such as of MMP2 and MMP9. Interacts with PLAT and PLAUR (By similarity). Cell membrane; Multi-pass membrane protein. Note=Colocalizes on the cell surface with urokinase plasminogen activator surface receptor/PLAUR (By similarity). Expressed in peripheral blood cells and monocytes. Expressed in adrenal medulla. protein binding plasma membrane integral component of plasma membrane chemotaxis inflammatory response positive regulation of plasminogen activation membrane integral component of membrane  uc003zjc.1 uc003zjc.2 uc003zjc.3 uc003zjc.4 uc003zjc.5 uc003zjc.6 
ENST00000223865.8 TBC1D13 ENST00000223865.8 Homo sapiens TBC1 domain family member 13 (TBC1D13), transcript variant 2, mRNA. (from RefSeq NM_001286772) ENST00000223865.1 ENST00000223865.2 ENST00000223865.3 ENST00000223865.4 ENST00000223865.5 ENST00000223865.6 ENST00000223865.7 NM_001286772 Q5T270 Q5T271 Q9NVG8 TBC13_HUMAN uc010myk.1 uc010myk.2 uc010myk.3 uc010myk.4 uc010myk.5 May act as a GTPase-activating protein for Rab family protein(s). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NVG8-1; Sequence=Displayed; Name=2; IsoId=Q9NVG8-2; Sequence=VSP_039845; Contains 1 Rab-GAP TBC domain. GTPase activator activity cytoplasm cytosol intracellular protein transport membrane Rab GTPase binding activation of GTPase activity regulation of cilium assembly  uc010myk.1 uc010myk.2 uc010myk.3 uc010myk.4 uc010myk.5 
ENST00000223951.10 ELAVL2 ENST00000223951.10 Homo sapiens ELAV like RNA binding protein 2 (ELAVL2), transcript variant 29, mRNA. (from RefSeq NM_001385694) D3DRK3 ELAV2_HUMAN ENST00000223951.1 ENST00000223951.2 ENST00000223951.3 ENST00000223951.4 ENST00000223951.5 ENST00000223951.6 ENST00000223951.7 ENST00000223951.8 ENST00000223951.9 HUB NM_001385694 Q12926 Q13235 Q59G15 Q8NEM4 Q9H1Q8 uc003zps.1 uc003zps.2 uc003zps.3 uc003zps.4 In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. Binds RNA. Seems to recognize a GAAA motif. Can bind to its own 3'-UTR, the FOS 3'-UTR and the ID 3'-UTR. Interacts with IGF2BP1. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q12926-1; Sequence=Displayed; Name=2; IsoId=Q12926-2; Sequence=VSP_005788; Brain; neural-specific. Belongs to the RRM elav family. Contains 3 RRM (RNA recognition motif) domains. Sequence=BAD92531.1; Type=Erroneous initiation; mRNA splicing, via spliceosome nucleic acid binding RNA binding mRNA 3'-UTR binding protein binding nucleoplasm regulation of transcription, DNA-templated ribonucleoprotein complex  uc003zps.1 uc003zps.2 uc003zps.3 uc003zps.4 
ENST00000224073.6 EDF1 ENST00000224073.6 Homo sapiens endothelial differentiation related factor 1 (EDF1), transcript variant alpha, mRNA. (from RefSeq NM_003792) EDF1_HUMAN ENST00000224073.1 ENST00000224073.2 ENST00000224073.3 ENST00000224073.4 ENST00000224073.5 NM_003792 O60869 Q5T5T2 Q9UIM1 uc004cjt.1 uc004cjt.2 uc004cjt.3 uc004cjt.4 This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcriptional coactivator stimulating NR5A1 and ligand-dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. May function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism. Interacts with TBP and the transcription factor IID (TFIID) complex, NR5A2, NR1H3 and PPARG. Interaction with TBP is regulated by phosphorylation. Binds NR5A1, ATF1, FOS and JUN via their conserved basic region. Binding to calmodulin is regulated by calcium and phosphorylation of the IQ motif. Q13133:NR1H3; NbExp=4; IntAct=EBI-781301, EBI-781356; Q04752:NR5A1 (xeno); NbExp=4; IntAct=EBI-781310, EBI-850837; O00482:NR5A2; NbExp=2; IntAct=EBI-781301, EBI-781320; P37231:PPARG; NbExp=4; IntAct=EBI-781301, EBI-781384; P20226:TBP; NbExp=2; IntAct=EBI-781310, EBI-355371; Cytoplasm. Nucleus. Note=Also nuclear upon binding to NR5A1 and treatment of cells with TPA or forskolin. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha; IsoId=O60869-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O60869-2; Sequence=VSP_013336; Expressed in brain, liver, lung, kidney and heart (at protein level). Ubiquitously expressed. More abundant in heart, pancreas, liver, intestine and adipose tissues. Expressed in fetal tissues. More abundant in kidney. Down-regulated by HIV-1 Tat or phorbol ester (TPA) treatment in endothelial cells (at mRNA and protein levels). The IQ motif, which is involved in calmodulin binding, overlaps with the binding domain for nuclear receptors and transcription factors. Its phosphorylation probably allows a switch between the two activities of the protein (By similarity). Phosphorylated (by PKA and PKC). Contains 1 HTH cro/C1-type DNA-binding domain. Sequence=CAI12698.1; Type=Erroneous gene model prediction; TFIID-class transcription factor binding DNA binding transcription coactivator activity RNA binding protein binding calmodulin binding intracellular nucleus nucleolus cytoplasm cytosol regulation of transcription, DNA-templated multicellular organism development regulation of lipid metabolic process cell differentiation positive regulation of DNA binding endothelial cell differentiation positive regulation of transcription, DNA-templated  uc004cjt.1 uc004cjt.2 uc004cjt.3 uc004cjt.4 
ENST00000224140.6 SETX ENST00000224140.6 Homo sapiens senataxin (SETX), transcript variant 1, mRNA. (from RefSeq NM_015046) A2A396 ALS4 B2RPB2 B5ME16 C9JQ10 ENST00000224140.1 ENST00000224140.2 ENST00000224140.3 ENST00000224140.4 ENST00000224140.5 KIAA0625 NM_015046 O75120 Q3KQX4 Q5JUJ1 Q68DW5 Q6AZD7 Q7Z333 Q7Z3J6 Q8WX33 Q9H9D1 Q9NVP9 SCAR1 SETX_HUMAN uc004cbk.1 uc004cbk.2 uc004cbk.3 uc004cbk.4 uc004cbk.5 This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]. Probable helicase, which may be involved in RNA maturation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress. Nucleus, nucleoplasm. Nucleus, nucleolus. Cytoplasm. Note=May be detected in the nucleolus only in cycling cells (By similarity). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z333-1; Sequence=Displayed; Name=3; IsoId=Q7Z333-3; Sequence=VSP_017124; Note=No experimental confirmation available; Name=4; IsoId=Q7Z333-4; Sequence=VSP_028826; Note=No experimental confirmation available; Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus). Defects in SETX are the cause of spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]; also known as ataxia-ocular apraxia 2. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR1 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha- fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAR1 patients manifest oculomotor apraxia. Defects in SETX are a cause of amyotrophic lateral sclerosis type 4 (ALS4) [MIM:602433]. ALS4 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of cases leading to familial forms. ALS4 is a childhood- or adolescent- onset form characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Belongs to the DNA2/NAM7 helicase family. Sequence=BAA91701.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14299.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97857.1; Type=Frameshift; Positions=1626; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SETX"; MAPK cascade nucleotide binding nuclear chromosome chromosome, telomeric region transcription termination site sequence-specific DNA binding DNA binding DNA helicase activity RNA binding helicase activity protein binding ATP binding nucleus nucleoplasm chromosome nucleolus cytoplasm DNA repair double-strand break repair DNA recombination DNA-templated transcription, termination termination of RNA polymerase II transcription mRNA splice site selection RNA processing cellular response to DNA damage stimulus spermatogenesis nervous system development circadian rhythm fibroblast growth factor receptor signaling pathway positive regulation of neuron projection development nuclear body hydrolase activity cell differentiation axon growth cone DNA duplex unwinding positive regulation of RNA splicing cellular response to oxidative stress identical protein binding cell projection negative regulation of apoptotic process protein kinase B signaling cellular response to fibroblast growth factor stimulus intercellular bridge positive regulation of transcription from RNA polymerase II promoter rhythmic process positive regulation of DNA-templated transcription, termination cellular response to hydrogen peroxide cellular response to retinoic acid positive regulation of DNA-templated transcription, initiation positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled  uc004cbk.1 uc004cbk.2 uc004cbk.3 uc004cbk.4 uc004cbk.5 
ENST00000224237.9 VIM ENST00000224237.9 vimentin (from HGNC VIM) ENST00000224237.1 ENST00000224237.2 ENST00000224237.3 ENST00000224237.4 ENST00000224237.5 ENST00000224237.6 ENST00000224237.7 ENST00000224237.8 LQ740465 V9HWE1 uc057sbc.1  uc057sbc.1 
ENST00000224337.10 BLNK ENST00000224337.10 Homo sapiens B cell linker (BLNK), transcript variant 1, mRNA. (from RefSeq NM_013314) BASH BLNK_HUMAN ENST00000224337.1 ENST00000224337.2 ENST00000224337.3 ENST00000224337.4 ENST00000224337.5 ENST00000224337.6 ENST00000224337.7 ENST00000224337.8 ENST00000224337.9 NM_013314 O75498 O75499 Q8WV28 SLP65 uc001kls.1 uc001kls.2 uc001kls.3 uc001kls.4 uc001kls.5 uc001kls.6 This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]. Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required for pre-BCR- mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May play an important role in BCR-induced B-cell apoptosis. Associates with PLCG1, VAV1 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with VAV3, PLCG2 and GRB2. Interacts through its SH2 domain with CD79A. Interacts (via SH2 domain) with SYK; phosphorylated and activated by SYK. Interacts with SCIMP. Cytoplasm. Cell membrane. Note=BCR activation results in the translocation to membrane fraction. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WV28-1; Sequence=Displayed; Name=2; IsoId=Q8WV28-2; Sequence=VSP_016178; Expressed in B-cell lineage and fibroblast cell lines (at protein level). Highest levels of expression in the spleen, with lower levels in the liver, kidney, pancreas, small intestines and colon. Following BCR activation, phosphorylated on tyrosine residues by SYK and LYN. When phosphorylated, serves as a scaffold to assemble downstream targets of antigen activation, including PLCG1, VAV1, GRB2 and NCK1. Phosphorylation of Tyr-84, Tyr-178 and Tyr-189 facilitates PLCG1 binding. Phosphorylation of Tyr-96 facilitates BTK binding. Phosphorylation of Tyr-72 facilitates VAV1 and NCK1 binding. Phosphorylation is required for both Ca(2+) and MAPK signaling pathways. Defects in BLNK are the cause of agammaglobulinemia type 4 (AGM4) [MIM:613502]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Contains 1 SH2 domain. Name=BLNKbase; Note=BLNK mutation db; URL="http://bioinf.uta.fi/BLNKbase/"; transmembrane receptor protein tyrosine kinase adaptor activity SH3/SH2 adaptor activity protein binding cytoplasm cytosol plasma membrane inflammatory response humoral immune response transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of signal transduction membrane B cell differentiation intracellular signal transduction cytoplasmic ribonucleoprotein granule B cell activation  uc001kls.1 uc001kls.2 uc001kls.3 uc001kls.4 uc001kls.5 uc001kls.6 
ENST00000224356.5 CYP26A1 ENST00000224356.5 Homo sapiens cytochrome P450 family 26 subfamily A member 1 (CYP26A1), transcript variant 1, mRNA. (from RefSeq NM_000783) CP26A_HUMAN CYP26 ENST00000224356.1 ENST00000224356.2 ENST00000224356.3 ENST00000224356.4 NM_000783 O43174 P450RAI1 Q5VXI0 uc001kil.1 uc001kil.2 uc001kil.3 uc001kil.4 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]. Plays a key role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA. Capable of both 4-hydroxylation and 18- hydroxylation. Responsible for generation of several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA and 18-OH-RA. Heme group (By similarity). Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Highest levels in adult liver, heart, pituitary gland, adrenal gland, placenta and regions of the brain. By retinoic acid. Belongs to the cytochrome P450 family. C-22 sterol desaturase activity kidney development retinoic acid binding monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane ergosterol biosynthetic process vitamin metabolic process xenobiotic metabolic process retinoic acid 4-hydroxylase activity membrane sterol metabolic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen oxygen binding heme binding organelle membrane response to retinoic acid response to vitamin A retinoic acid catabolic process retinoic acid metabolic process intracellular membrane-bounded organelle metal ion binding negative regulation of retinoic acid receptor signaling pathway oxidation-reduction process  uc001kil.1 uc001kil.2 uc001kil.3 uc001kil.4 
ENST00000224652.12 ATE1 ENST00000224652.12 Homo sapiens arginyltransferase 1 (ATE1), transcript variant 1, mRNA. (from RefSeq NM_001001976) ATE1_HUMAN ENST00000224652.1 ENST00000224652.10 ENST00000224652.11 ENST00000224652.2 ENST00000224652.3 ENST00000224652.4 ENST00000224652.5 ENST00000224652.6 ENST00000224652.7 ENST00000224652.8 ENST00000224652.9 NM_001001976 O95260 O95261 Q5SQQ3 Q8WW04 uc001lfq.1 uc001lfq.2 uc001lfq.3 uc001lfq.4 uc001lfq.5 uc001lfq.6 This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity). L-arginyl-tRNA + protein = tRNA + L-arginyl- protein. Monomer (Potential). Isoform ATE1-1: Nucleus (By similarity). Cytoplasm (By similarity). Isoform ATE1-2: Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=ATE1-1; IsoId=O95260-1; Sequence=Displayed; Name=ATE1-2; IsoId=O95260-2; Sequence=VSP_000336; Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the R-transferase family. It is uncertain whether Met-1 or Met-37 is the initiator. arginyltransferase activity protein binding nucleus cytoplasm proteasomal protein catabolic process protein arginylation transferase activity transferase activity, transferring acyl groups  uc001lfq.1 uc001lfq.2 uc001lfq.3 uc001lfq.4 uc001lfq.5 uc001lfq.6 
ENST00000224721.12 CDH23 ENST00000224721.12 Homo sapiens cadherin related 23 (CDH23), transcript variant 1, mRNA. (from RefSeq NM_022124) C4IXS9 CAD23_HUMAN ENST00000224721.1 ENST00000224721.10 ENST00000224721.11 ENST00000224721.2 ENST00000224721.3 ENST00000224721.4 ENST00000224721.5 ENST00000224721.6 ENST00000224721.7 ENST00000224721.8 ENST00000224721.9 F6U049 KIAA1774 KIAA1812 NM_022124 Q5QGS2 Q5XKN2 Q6UWW1 Q96JL3 Q9H251 Q9H4K9 UNQ1894/PRO4340 uc285hzv.1 uc285hzv.2 This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Interacts with PCDH15 (By similarity). Interacts with USH1C and USH1G. Cell membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=8; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q9H251-1; Sequence=Displayed; Name=2; IsoId=Q9H251-2; Sequence=VSP_000645; Name=3; IsoId=Q9H251-3; Sequence=VSP_000646; Name=4; IsoId=Q9H251-4; Sequence=VSP_000647; Name=5; IsoId=Q9H251-5; Sequence=VSP_013268, VSP_013269; Name=6; IsoId=Q9H251-6; Sequence=VSP_035289, VSP_035290; Note=No experimental confirmation available; Name=7; IsoId=Q9H251-7; Sequence=VSP_044260; Name=8; IsoId=Q9H251-8; Sequence=VSP_044261, VSP_000645; Note=No experimental confirmation available; Particularly strong expression in the retina. Found also in the cochlea. Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:601067]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:601067]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:601386]. DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Contains 27 cadherin domains. Name=Mutations of the CDH23 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cdh23mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH23"; cell morphogenesis calcium ion binding protein binding plasma membrane cell-cell adherens junction calcium ion transport cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules visual perception sensory perception of sound locomotory behavior cytoskeletal protein binding cell surface membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex stereocilium adherens junction organization protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding photoreceptor cell maintenance metal ion binding response to stimulus sensory perception of light stimulus equilibrioception regulation of cytosolic calcium ion concentration inner ear receptor stereocilium organization cell-cell adhesion  uc285hzv.1 uc285hzv.2 
ENST00000224756.12 CCSER2 ENST00000224756.12 Homo sapiens coiled-coil serine rich protein 2 (CCSER2), transcript variant 2, mRNA. (from RefSeq NM_018999) B4DQU9 B7WPE8 D3DWE2 ENST00000224756.1 ENST00000224756.10 ENST00000224756.11 ENST00000224756.2 ENST00000224756.3 ENST00000224756.4 ENST00000224756.5 ENST00000224756.6 ENST00000224756.7 ENST00000224756.8 ENST00000224756.9 F190B_HUMAN FAM190B KIAA1128 NM_018999 NPD012 Q8N6E9 Q9H2S0 Q9H7U1 Q9ULU1 uc001kdh.1 uc001kdh.2 uc001kdh.3 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H7U1-1; Sequence=Displayed; Name=2; IsoId=Q9H7U1-2; Sequence=VSP_029180, VSP_029181; Name=3; IsoId=Q9H7U1-3; Sequence=VSP_040287; Note=Ref.1 (BAG61061) sequence is in conflict in positions: 782:S->F, 881:M->I; Belongs to the FAM190 family. Sequence=AAG44473.1; Type=Frameshift; Positions=187, 240, 244; Sequence=AAH30528.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI40902.1; Type=Erroneous gene model prediction; microtubule bundle formation cytoplasm cytoskeleton microtubule binding microtubule cytoskeleton  uc001kdh.1 uc001kdh.2 uc001kdh.3 
ENST00000224784.10 ACTA2 ENST00000224784.10 Homo sapiens actin alpha 2, smooth muscle (ACTA2), transcript variant 2, mRNA. (from RefSeq NM_001613) ACTA_HUMAN ACTSA ACTVS B2R8A4 ENST00000224784.1 ENST00000224784.2 ENST00000224784.3 ENST00000224784.4 ENST00000224784.5 ENST00000224784.6 ENST00000224784.7 ENST00000224784.8 ENST00000224784.9 GIG46 NM_001613 P03996 P04108 P62736 Q6FI19 uc001kfp.1 uc001kfp.2 uc001kfp.3 uc001kfp.4 This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]. Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Cytoplasm, cytoskeleton. Up-regulated in response to enterovirus 71 (EV71) infection. Oxidation of Met-46 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the (S)-S-oxide or the (R)-S-oxide is produced (By similarity). Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease. Defects in ACTA2 are the cause of familial aortic aneurysm thoracic type 6 (AAT6) [MIM:611788]. AATs are characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. They are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. Defects in ACTA2 are the cause of Moyamoya disease type 5 (MYMY5) [MIM:614042]. Moyamoya disease is a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. Defects in ACTA2 are the cause of multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]. MSMDYS is a syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Belongs to the actin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACTA2"; nucleotide binding ATP binding extracellular space cytoplasm cytosol cytoskeleton muscle contraction regulation of blood pressure response to virus positive regulation of gene expression vascular smooth muscle contraction actin cytoskeleton protein kinase binding lamellipodium filopodium smooth muscle contractile fiber macromolecular complex cell body positive regulation of transcription, DNA-templated extracellular exosome glomerular mesangial cell development mesenchyme migration  uc001kfp.1 uc001kfp.2 uc001kfp.3 uc001kfp.4 
ENST00000224949.9 PITRM1 ENST00000224949.9 Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014889) B3KMJ6 ENST00000224949.1 ENST00000224949.2 ENST00000224949.3 ENST00000224949.4 ENST00000224949.5 ENST00000224949.6 ENST00000224949.7 ENST00000224949.8 KIAA1104 MP1 NM_014889 O95204 PREP_HUMAN Q2M2G6 Q4VBR1 Q5JRW7 Q5JRX3 Q7L5Z7 Q9BSI6 Q9BVJ5 Q9UPP8 uc001igt.1 uc001igt.2 uc001igt.3 uc001igt.4 The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimer's disease. [provided by RefSeq, Dec 2016]. ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference. Binds 1 zinc ion per subunit (By similarity). Inhibited by nickel and zinc excess, and slightly activated by manganese. Homodimer (By similarity). Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5JRX3-1; Sequence=Displayed; Name=2; IsoId=Q5JRX3-2; Sequence=VSP_020597; Note=No experimental confirmation available; Widely expressed. Expressed at higher level in muscle and heart compared to brain, pancreas, liver, lung and placenta. The disulfide bond may lock the enzyme in a closed conformation under oxidized conditions, suggesting that it may participate in redox regulation of the enzyme. Belongs to the peptidase M16 family. PreP subfamily. Sequence=AAH01150.1; Type=Erroneous initiation; Sequence=CAI39997.1; Type=Erroneous gene model prediction; catalytic activity metalloendopeptidase activity protein binding mitochondrion mitochondrial matrix proteolysis protein targeting to mitochondrion enzyme activator activity peptidase activity metallopeptidase activity zinc ion binding hydrolase activity positive regulation of catalytic activity metal ion binding  uc001igt.1 uc001igt.2 uc001igt.3 uc001igt.4 
ENST00000224950.8 STN1 ENST00000224950.8 Homo sapiens STN1 subunit of CST complex (STN1), mRNA. (from RefSeq NM_024928) D3DR99 ENST00000224950.1 ENST00000224950.2 ENST00000224950.3 ENST00000224950.4 ENST00000224950.5 ENST00000224950.6 ENST00000224950.7 NM_024928 OBFC1 Q5TCZ0 Q9H668 STN1_HUMAN uc001kxm.1 uc001kxm.2 uc001kxm.3 uc001kxm.4 uc001kxm.5 OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.1243.1, SRR1803615.185582.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000224950.8/ ENSP00000224950.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites. Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1. Interacts with TEN1/C17orf106 and CTC1/C17orf68; the interaction is direct. Interacts with ACD/TPP1. Nucleus. Chromosome, telomere. Belongs to the STN1 family. Contains 1 OB DNA-binding domain. telomere maintenance double-strand break repair via homologous recombination chromosome, telomeric region nuclear chromosome, telomeric region fibrillar center nucleic acid binding DNA binding single-stranded DNA binding protein binding nucleus nucleoplasm DNA replication factor A complex chromosome DNA replication DNA repair nucleotide-excision repair telomere maintenance via telomere lengthening telomere capping negative regulation of telomere maintenance via telomerase site of double-strand break telomeric DNA binding single-stranded telomeric DNA binding intracellular membrane-bounded organelle intermediate filament cytoskeleton positive regulation of DNA replication CST complex  uc001kxm.1 uc001kxm.2 uc001kxm.3 uc001kxm.4 uc001kxm.5 
ENST00000225171.7 DNAJC12 ENST00000225171.7 Homo sapiens DnaJ heat shock protein family (Hsp40) member C12 (DNAJC12), transcript variant 1, mRNA. (from RefSeq NM_021800) DJC12_HUMAN ENST00000225171.1 ENST00000225171.2 ENST00000225171.3 ENST00000225171.4 ENST00000225171.5 ENST00000225171.6 JDP1 NM_021800 Q5JVQ1 Q9UKB2 Q9UKB3 uc001jnb.1 uc001jnb.2 uc001jnb.3 uc001jnb.4 uc001jnb.5 This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Event=Alternative splicing; Named isoforms=2; Name=a; Synonyms=JDP1a; IsoId=Q9UKB3-1; Sequence=Displayed; Name=B; Synonyms=JDP1b; IsoId=Q9UKB3-2; Sequence=VSP_001295, VSP_001296; Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach. Contains 1 J domain. protein binding cytoplasm  uc001jnb.1 uc001jnb.2 uc001jnb.3 uc001jnb.4 uc001jnb.5 
ENST00000225174.8 PPIF ENST00000225174.8 Homo sapiens peptidylprolyl isomerase F (PPIF), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005729) CYP3 ENST00000225174.1 ENST00000225174.2 ENST00000225174.3 ENST00000225174.4 ENST00000225174.5 ENST00000225174.6 ENST00000225174.7 NM_005729 P30405 PPIF_HUMAN Q5W131 uc001kai.1 uc001kai.2 uc001kai.3 uc001kai.4 uc001kai.5 The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.241077.1, SRR1803613.160048.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225174.8/ ENSP00000225174.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Peptidylproline (omega=180) = peptidylproline (omega=0). Mitochondrion matrix. Belongs to the cyclophilin-type PPIase family. Contains 1 PPIase cyclophilin-type domain. protein peptidyl-prolyl isomerization response to ischemia peptidyl-prolyl cis-trans isomerase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial permeability transition pore complex mitochondrial matrix protein folding apoptotic process response to oxidative stress apoptotic mitochondrial changes regulation of proton-transporting ATPase activity, rotational mechanism regulation of necrotic cell death programmed cell death cyclosporin A binding membrane isomerase activity negative regulation of ATPase activity protein refolding peptide binding regulation of apoptotic process negative regulation of apoptotic process regulation of mitochondrial membrane permeability unfolded protein binding necroptotic process cellular response to hydrogen peroxide cellular response to arsenic-containing substance cellular response to calcium ion positive regulation of release of cytochrome c from mitochondria negative regulation of release of cytochrome c from mitochondria negative regulation of oxidative phosphorylation regulation of mitochondrial membrane permeability involved in programmed necrotic cell death mitochondrial outer membrane permeabilization involved in programmed cell death negative regulation of oxidative phosphorylation uncoupler activity negative regulation of intrinsic apoptotic signaling pathway mitochondrial proton-transporting ATP synthase complex  uc001kai.1 uc001kai.2 uc001kai.3 uc001kai.4 uc001kai.5 
ENST00000225235.5 TBC1D12 ENST00000225235.5 Homo sapiens TBC1 domain family member 12 (TBC1D12), mRNA. (from RefSeq NM_015188) ENST00000225235.1 ENST00000225235.2 ENST00000225235.3 ENST00000225235.4 KIAA0608 NM_015188 O60347 Q5VYA6 Q8WX26 Q8WX59 Q9UG83 TBC12_HUMAN uc001kjr.1 uc001kjr.2 uc001kjr.3 uc001kjr.4 May act as a GTPase-activating protein for Rab family protein(s). Contains 1 Rab-GAP TBC domain. Sequence=BAA25534.1; Type=Erroneous initiation; Sequence=CAB43225.2; Type=Erroneous initiation; GTPase activator activity autophagosome intracellular protein transport Rab GTPase binding recycling endosome activation of GTPase activity regulation of autophagosome assembly  uc001kjr.1 uc001kjr.2 uc001kjr.3 uc001kjr.4 
ENST00000225275.4 MPO ENST00000225275.4 Homo sapiens myeloperoxidase (MPO), mRNA. (from RefSeq NM_000250) A1L4B8 ENST00000225275.1 ENST00000225275.2 ENST00000225275.3 NM_000250 P05164 PERM_HUMAN Q14862 Q4PJH5 Q9UCL7 uc002ivu.1 uc002ivu.2 Myeloperoxidase (MPO) is a heme protein synthesized during myeloid differentiation that constitutes the major component of neutrophil azurophilic granules. Produced as a single chain precursor, myeloperoxidase is subsequently cleaved into a light and heavy chain. The mature myeloperoxidase is a tetramer composed of 2 light chains and 2 heavy chains. This enzyme produces hypohalous acids central to the microbicidal activity of neutrophils. [provided by RefSeq, Nov 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M19507.1, X04876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology MANE Ensembl match :: ENST00000225275.4/ ENSP00000225275.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. Cl(-) + H(2)O(2) + H(+) = HClO + H(2)O. Cl(-) + H(2)O(2) = HOCl + 2 H(2)O. Binds 1 calcium ion per monomer. Binds 1 heme B (iron-protoporphyrin IX) group covalently per monomer. Homodimer; disulfide-linked. Each monomer consists of a light and a heavy chain. Lysosome. Event=Alternative splicing; Named isoforms=3; Name=H17; Synonyms=B; IsoId=P05164-1; Sequence=Displayed; Name=H14; IsoId=P05164-2; Sequence=VSP_007206; Name=H7; Synonyms=A; IsoId=P05164-3; Sequence=VSP_007207; Defects in MPO are the cause of myeloperoxidase deficiency (MPOD) [MIM:254600]. A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. Belongs to the peroxidase family. XPO subfamily. Name=MPObase; Note=MPO mutation db; URL="http://bioinf.uta.fi/MPObase/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mpo/"; Name=Wikipedia; Note=Myeloperoxidase entry; URL="http://en.wikipedia.org/wiki/Myeloperoxidase"; response to yeast hypochlorous acid biosynthetic process respiratory burst involved in defense response chromatin binding peroxidase activity extracellular region extracellular space nucleus cytoplasm lysosome defense response response to oxidative stress aging heparin binding response to mechanical stimulus oxidoreductase activity removal of superoxide radicals heme binding secretory granule response to food response to lipopolysaccharide low-density lipoprotein particle remodeling azurophil granule lumen azurophil granule defense response to bacterium hydrogen peroxide catabolic process negative regulation of apoptotic process intracellular membrane-bounded organelle neutrophil degranulation cell redox homeostasis metal ion binding defense response to fungus oxidation-reduction process extracellular exosome phagocytic vesicle lumen response to gold nanoparticle  uc002ivu.1 uc002ivu.2 
ENST00000225276.10 ST6GALNAC2 ENST00000225276.10 Homo sapiens ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA. (from RefSeq NM_006456) ENST00000225276.1 ENST00000225276.2 ENST00000225276.3 ENST00000225276.4 ENST00000225276.5 ENST00000225276.6 ENST00000225276.7 ENST00000225276.8 ENST00000225276.9 NM_006456 Q12971 Q9UJ37 SIA7B_HUMAN SIAT7B SIATL1 STHM uc002jsg.1 uc002jsg.2 uc002jsg.3 uc002jsg.4 uc002jsg.5 uc002jsg.6 ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.255230.1, SRR1660809.201916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2162841 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225276.10/ ENSP00000225276.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## CMP-N-acetylneuraminate + glycano-beta-D- galactosyl-1,3-(N-acetyl-D-galactosaminyl)-glycoprotein = CMP + glycano-beta-D-galactosyl-(2,6-alpha-N-acetylneuraminyl)-(N- acetyl-D-galactosaminyl)-glycoprotein. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Potential). Expressed in skeletal muscle, heart, kidney, placenta, lung and leukocytes. Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN. Belongs to the glycosyltransferase 29 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST6GALNAC2"; Name=Functional Glycomics Gateway - GTase; Note=ST6GalNAc II; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_631"; Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Golgi apparatus protein glycosylation protein O-linked glycosylation sialyltransferase activity membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups protein sialylation  uc002jsg.1 uc002jsg.2 uc002jsg.3 uc002jsg.4 uc002jsg.5 uc002jsg.6 
ENST00000225296.8 DHX33 ENST00000225296.8 Homo sapiens DEAH-box helicase 33 (DHX33), transcript variant 1, mRNA. (from RefSeq NM_020162) B4DHF9 DDX33 DHX33_HUMAN ENST00000225296.1 ENST00000225296.2 ENST00000225296.3 ENST00000225296.4 ENST00000225296.5 ENST00000225296.6 ENST00000225296.7 NM_020162 Q4G149 Q5CZ73 Q9H5M9 Q9H6R0 uc002gca.1 uc002gca.2 uc002gca.3 uc002gca.4 This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]. Stimulates RNA polymerase I transcription of the 47S precursor rRNA. Associates with ribosomal DNA (rDNA) loci where it is involved in POLR1A recruitment. Important element of nucleolar organization. ATP + H(2)O = ADP + phosphate. Interacts with UBTF. Nucleus, nucleolus. Nucleus, nucleoplasm. Note=Predominantly in the nucleolus. During mitosis, localizes with the nucleolar organizing regions. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6R0-1; Sequence=Displayed; Name=2; IsoId=Q9H6R0-2; Sequence=VSP_016256; Belongs to the DEAD box helicase family. DEAH subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=AAH30017.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding rDNA binding nucleic acid binding RNA binding RNA helicase activity double-stranded RNA binding mRNA binding helicase activity protein binding ATP binding nucleus nucleoplasm nucleolus cytoplasm translational initiation hydrolase activity positive regulation of type I interferon production activating transcription factor binding ribosomal large subunit binding positive regulation of MAPK cascade positive regulation of transcription from RNA polymerase I promoter positive regulation of NF-kappaB transcription factor activity inflammasome complex NLRP3 inflammasome complex positive regulation of NLRP3 inflammasome complex assembly  uc002gca.1 uc002gca.2 uc002gca.3 uc002gca.4 
ENST00000225298.12 UTP18 ENST00000225298.12 Homo sapiens UTP18 small subunit processome component (UTP18), mRNA. (from RefSeq NM_016001) CDABP0061 CGI-48 ENST00000225298.1 ENST00000225298.10 ENST00000225298.11 ENST00000225298.2 ENST00000225298.3 ENST00000225298.4 ENST00000225298.5 ENST00000225298.6 ENST00000225298.7 ENST00000225298.8 ENST00000225298.9 NM_016001 Q9H4N6 Q9Y5J1 UTP18_HUMAN WDR50 uc002its.1 uc002its.2 uc002its.3 uc002its.4 uc002its.5 Involved in nucleolar processing of pre-18S ribosomal RNA (By similarity). Nucleus, nucleolus. Belongs to the WD repeat UTP18 family. Contains 6 WD repeats. Sequence=AAD34043.1; Type=Frameshift; Positions=19; Sequence=AAG01999.1; Type=Erroneous initiation; RNA binding nucleus nucleoplasm nucleolus rRNA processing nuclear membrane small-subunit processome Pwp2p-containing subcomplex of 90S preribosome  uc002its.1 uc002its.2 uc002its.3 uc002its.4 uc002its.5 
ENST00000225308.12 SLC25A39 ENST00000225308.12 Required for normal heme biosynthesis (By similarity). (from UniProt Q9BZJ4) A8JZZ2 BC001398 CGI-69 D3DX51 D3DX54 ENST00000225308.1 ENST00000225308.10 ENST00000225308.11 ENST00000225308.2 ENST00000225308.3 ENST00000225308.4 ENST00000225308.5 ENST00000225308.6 ENST00000225308.7 ENST00000225308.8 ENST00000225308.9 PRO2163 Q4V9M1 Q9BZJ4 Q9P182 Q9UF66 Q9Y379 S2539_HUMAN uc002igm.1 uc002igm.2 uc002igm.3 Required for normal heme biosynthesis (By similarity). Mitochondrion inner membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=CGI-69L; IsoId=Q9BZJ4-1; Sequence=Displayed; Name=2; IsoId=Q9BZJ4-2; Sequence=VSP_003264; Expressed in many tissues. Abundant in testis and kidney. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. Sequence=AAF69618.1; Type=Erroneous initiation; Note=Translation N-terminally extended; mitochondrion mitochondrial inner membrane heme biosynthetic process membrane integral component of membrane  uc002igm.1 uc002igm.2 uc002igm.3 
ENST00000225328.10 P2RX5 ENST00000225328.10 Homo sapiens purinergic receptor P2X 5 (P2RX5), transcript variant 1, mRNA. (from RefSeq NM_002561) ENST00000225328.1 ENST00000225328.2 ENST00000225328.3 ENST00000225328.4 ENST00000225328.5 ENST00000225328.6 ENST00000225328.7 ENST00000225328.8 ENST00000225328.9 NM_002561 O43450 O75540 P2RX5_HUMAN P2X5 Q59F38 Q8IXW4 Q93086 Q93087 Q9NZV0 uc002fwi.1 uc002fwi.2 uc002fwi.3 uc002fwi.4 uc002fwi.5 The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]. Receptor for ATP that acts as a ligand-gated ion channel. Functional P2XRs are organized as homomeric and heteromeric trimers (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q93086-3; Sequence=Displayed; Name=2; Synonyms=A; IsoId=Q93086-1; Sequence=VSP_035587; Name=3; Synonyms=B; IsoId=Q93086-2; Sequence=VSP_004503, VSP_035587; Name=4; IsoId=Q93086-4; Sequence=VSP_035588; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed at high levels in brain and immune system. Belongs to the P2X receptor family. Sequence=AAF43106.1; Type=Erroneous gene model prediction; Sequence=AK307959; Type=Frameshift; Positions=112; Sequence=BAD92860.1; Type=Frameshift; Positions=112; Sequence=BC028084; Type=Frameshift; Positions=112; Name=Wikipedia; Note=P2X receptor entry; URL="http://en.wikipedia.org/wiki/P2X_receptor"; purinergic nucleotide receptor activity transmembrane signaling receptor activity extracellular ATP-gated cation channel activity ion channel activity ATP binding integral component of nuclear inner membrane cytosol plasma membrane integral component of plasma membrane ion transport signal transduction nervous system development blood coagulation positive regulation of calcium ion transport into cytosol membrane integral component of membrane response to ATP purinergic nucleotide receptor signaling pathway positive regulation of calcium-mediated signaling excitatory postsynaptic potential cation transmembrane transport postsynapse  uc002fwi.1 uc002fwi.2 uc002fwi.3 uc002fwi.4 uc002fwi.5 
ENST00000225371.6 EPX ENST00000225371.6 Homo sapiens eosinophil peroxidase (EPX), mRNA. (from RefSeq NM_000502) ENST00000225371.1 ENST00000225371.2 ENST00000225371.3 ENST00000225371.4 ENST00000225371.5 EPER EPO EPP NM_000502 P11678 PERE_HUMAN Q4TVP3 uc002ivq.1 uc002ivq.2 uc002ivq.3 uc002ivq.4 uc002ivq.5 This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225371.6/ ENSP00000225371.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mediates tyrosine nitration of secondary granule proteins in mature resting eosinophils. Shows significant inhibitory activity towards Mycobacterium tuberculosis H37Rv by inducing bacterial fragmentation and lysis. 2 phenolic donor + H(2)O(2) = 2 phenoxyl radical of the donor + 2 H(2)O. Binds 1 calcium ion per heterodimer (By similarity). Binds 1 heme B (iron-protoporphyrin IX) covalently through ester linkages to hydroxylated methyl groups formed auto- catalytically with hydrogen peroxide at the heme C-1 and C-5 positions. The ester linkage to Asp-232 was observed in 30% of the chains. Tetramer of two light chains and two heavy chains. Cytoplasmic granule. Note=Cytoplasmic granules of eosinophils. Allelic variant in EPX is associated with Japanese cedar pollinosis which is a type I allergic disease with ocular and nasal symptoms that develop paroxysmally on contact with Japanese cedar pollen. These symptoms, which occur seasonally each year, are typical features of allergic rhinitis, such as sneezing, excessive nasal secretion, nasal congestion, and conjunctival itching. Defects in EPX are the cause of eosinophil peroxidase deficiency (EPD) [MIM:261500]. EPD is an autosomal recessive defect where anomalous eosinophils are characterized by nuclear hypersegmentation, hypogranulation, and negative peroxidase and phospholipid staining. Belongs to the peroxidase family. XPO subfamily. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/epx/"; defense response to nematode peroxidase activity extracellular region extracellular space cytoplasm defense response response to oxidative stress oxidoreductase activity heme binding negative regulation of interleukin-10 production negative regulation of interleukin-5 production positive regulation of interleukin-4 production secretory granule lumen defense response to bacterium hydrogen peroxide catabolic process neutrophil degranulation metal ion binding oxidation-reduction process extracellular exosome eosinophil migration cellular oxidant detoxification  uc002ivq.1 uc002ivq.2 uc002ivq.3 uc002ivq.4 uc002ivq.5 
ENST00000225387.8 CRYBA1 ENST00000225387.8 Homo sapiens crystallin beta A1 (CRYBA1), mRNA. (from RefSeq NM_005208) CRBA1_HUMAN CRYB1 ENST00000225387.1 ENST00000225387.2 ENST00000225387.3 ENST00000225387.4 ENST00000225387.5 ENST00000225387.6 ENST00000225387.7 NM_005208 P05813 Q13633 Q14CM9 uc002hdw.1 uc002hdw.2 uc002hdw.3 uc002hdw.4 uc002hdw.5 Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EB361356.1, EB361468.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## Crystallins are the dominant structural components of the vertebrate eye lens. Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity). Event=Alternative initiation; Named isoforms=2; Name=A3; IsoId=P05813-1; Sequence=Displayed; Name=A1; IsoId=P05813-2; Sequence=VSP_018710; Note=Met-1 is removed. Acetylated on Ala-2; Has a two-domain beta-structure, folded into four very similar Greek key motifs. Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms. Cleavages do not seem to have adverse effects on solubility. S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental. Isoform A1 initiator methionine is removed. The new N- terminal amino acid is then N-acetylated. Mass=25192; Mass_error=3; Method=Electrospray; Range=1-215; Source=PubMed:8999933; Mass=25192; Method=Electrospray; Range=1-215; Source=PubMed:15576560; Mass=23101; Mass_error=3; Method=Electrospray; Range=19-215; Source=PubMed:8999933; Mass=23102; Method=Electrospray; Range=19-215; Source=PubMed:15576560; Mass=22646; Method=Electrospray; Range=23-215; Source=PubMed:15576560; Mass=22351; Method=Electrospray; Range=26-215; Source=PubMed:15576560; Mass=22294; Method=Electrospray; Range=27-215; Source=PubMed:15576560; Defects in CRYBA1 are the cause of cataract congenital zonular with sutural opacities (CCZS) [MIM:600881]. A form of zonular cataract. Zonular or lamellar cataracts are concentric opacities, broad or narrow, usually consisting of powdery white dots affecting one lamella or zonule of an otherwise clear lens. Belongs to the beta/gamma-crystallin family. Contains 4 beta/gamma crystallin 'Greek key' domains. negative regulation of cytokine production lens development in camera-type eye molecular_function structural constituent of eye lens protein binding nucleus cytoplasm visual perception negative regulation of phosphatidylinositol 3-kinase signaling negative regulation of TOR signaling negative regulation of protein kinase B signaling negative regulation of ERK1 and ERK2 cascade positive regulation of anoikis  uc002hdw.1 uc002hdw.2 uc002hdw.3 uc002hdw.4 uc002hdw.5 
ENST00000225388.9 NUFIP2 ENST00000225388.9 Homo sapiens nuclear FMR1 interacting protein 2 (NUFIP2), mRNA. (from RefSeq NM_020772) ENST00000225388.1 ENST00000225388.2 ENST00000225388.3 ENST00000225388.4 ENST00000225388.5 ENST00000225388.6 ENST00000225388.7 ENST00000225388.8 KIAA1321 NM_020772 NUFP2_HUMAN PIG1 Q7Z417 Q9P2M5 uc002hdy.1 uc002hdy.2 uc002hdy.3 uc002hdy.4 uc002hdy.5 uc002hdy.6 Binds RNA. Interacts with FMRP. Nucleus. Cytoplasm. Note=Distribution is cell cycle-modulated, being cytoplasmic in the G2/M phase and accumulating in nucleus during the G1 phase. Phosphorylated upon DNA damage, probably by ATM or ATR. Sequence=BAA92559.1; Type=Erroneous initiation; RNA binding protein binding nucleus nucleoplasm cytoplasm cytosol cytoplasmic stress granule membrane nuclear body polysomal ribosome  uc002hdy.1 uc002hdy.2 uc002hdy.3 uc002hdy.4 uc002hdy.5 uc002hdy.6 
ENST00000225394.8 GIT1 ENST00000225394.8 Homo sapiens GIT ArfGAP 1 (GIT1), transcript variant 2, mRNA. (from RefSeq NM_014030) B4DGU9 B4DSV3 ENST00000225394.1 ENST00000225394.2 ENST00000225394.3 ENST00000225394.4 ENST00000225394.5 ENST00000225394.6 ENST00000225394.7 GIT1_HUMAN NM_014030 Q86SS0 Q9BRJ4 Q9Y2X7 uc002hef.1 uc002hef.2 uc002hef.3 uc002hef.4 GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions, possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive non-tyrosine- phosphorylated paxillin in cytoplasmic complexes. Interacts with G protein-coupled receptor kinases: ADRBK1/GRK2, PPFIA1 and PPFIA4. Interacts with ARHGEF6/alpha-PIX, with ARHGEF7/beta-PIX, with PXN/paxillin and with PTK2/FAK1 (By similarity). Component of cytoplasmic complexes, which also contain PXN, ARHGEF6 and PAK1. Interacts with TGFB1I1. Interacts with SCRIB. Q14155:ARHGEF7; NbExp=2; IntAct=EBI-466061, EBI-717515; Q99728:BARD1; NbExp=2; IntAct=EBI-466061, EBI-473181; Q12873:CHD3; NbExp=2; IntAct=EBI-466061, EBI-523590; P42858:HTT; NbExp=10; IntAct=EBI-466061, EBI-466029; Q9P2H0:KIAA1377; NbExp=2; IntAct=EBI-466061, EBI-473176; Q5T3J3:LRIF1; NbExp=2; IntAct=EBI-466061, EBI-473196; Cytoplasm. Note=Cycles between at least 3 distinct intracellular compartments, including focal adhesions, cytoplasmic complexes and membrane protrusions. During cell migration, when cells detach, moves from the adhesions into the cytoplasmic complexes towards the leading edge, while, when cells adhere, it is found in vinculin-containing adhesions. Recruitment to adhesions may be mediated by active tyrosine-phosphorylated paxillin. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y2X7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2X7-2; Sequence=VSP_009666, VSP_009667; Note=No experimental confirmation available; Name=3; IsoId=Q9Y2X7-3; Sequence=VSP_040984; The paxillin-binding domain is masked in the full-length protein and is regulated by ARHGEF6 (By similarity). Phosphorylated on tyrosine residues by PTK2/FAK1 and SRC in growing fibroblasts. Tyrosine-phosphorylation is increased following cell spreading on fibronectin, decreased in cells arrested in mitosis and increased in the ensuing G1 phase (By similarity). Contains 3 ANK repeats. Contains 1 Arf-GAP domain. Sequence=AAH48196.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; GTPase activator activity protein binding cytoplasm cytosol focal adhesion regulation of G-protein coupled receptor protein signaling pathway membrane regulation of cytokinesis positive regulation of GTPase activity calyx of Held macromolecular complex binding metal ion binding ephrin receptor signaling pathway regulation of synaptic vesicle exocytosis  uc002hef.1 uc002hef.2 uc002hef.3 uc002hef.4 
ENST00000225430.9 RPL19 ENST00000225430.9 Homo sapiens ribosomal protein L19 (RPL19), transcript variant 1, mRNA. (from RefSeq NM_000981) B2R4K2 ENST00000225430.1 ENST00000225430.2 ENST00000225430.3 ENST00000225430.4 ENST00000225430.5 ENST00000225430.6 ENST00000225430.7 ENST00000225430.8 NM_000981 P14118 P22908 P84098 Q502Y6 Q7Z6E4 RL19_HUMAN uc002hrq.1 uc002hrq.2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC095445.1, SRR5189664.134613.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225430.9/ ENSP00000225430.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Belongs to the ribosomal protein L19e family. Sequence=CAD97677.1; Type=Erroneous initiation; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane membrane viral transcription cytosolic large ribosomal subunit polysomal ribosome synapse  uc002hrq.1 uc002hrq.2 
ENST00000225441.11 RUNDC3A ENST00000225441.11 Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 2, mRNA. (from RefSeq NM_006695) B2R974 ENST00000225441.1 ENST00000225441.10 ENST00000225441.2 ENST00000225441.3 ENST00000225441.4 ENST00000225441.5 ENST00000225441.6 ENST00000225441.7 ENST00000225441.8 ENST00000225441.9 NM_006695 O15483 O60651 Q59EK9 Q7Z3S2 Q9UF50 RAP2IP RPIP8 RUN3A_HUMAN uc002igi.1 uc002igi.2 uc002igi.3 uc002igi.4 May act as an effector of RAP2A in neuronal cells (By similarity). Interacts with the GTP-bound form of RAP2A (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q59EK9-1; Sequence=Displayed; Name=2; IsoId=Q59EK9-2; Sequence=VSP_032153, VSP_032155, VSP_032156; Name=3; IsoId=Q59EK9-3; Sequence=VSP_032155, VSP_032156; Name=4; IsoId=Q59EK9-4; Sequence=VSP_032154; Belongs to the RUNDC3 family. Contains 1 RUN domain. Sequence=BAD93039.1; Type=Erroneous initiation; protein binding cytosol plasma membrane small GTPase mediated signal transduction positive regulation of cGMP-mediated signaling GTPase regulator activity regulation of catalytic activity  uc002igi.1 uc002igi.2 uc002igi.3 uc002igi.4 
ENST00000225474.6 CSF3 ENST00000225474.6 Homo sapiens colony stimulating factor 3 (CSF3), transcript variant 1, mRNA. (from RefSeq NM_000759) C17orf33 CSF3_HUMAN ENST00000225474.1 ENST00000225474.2 ENST00000225474.3 ENST00000225474.4 ENST00000225474.5 GCSF NM_000759 P09919 uc002htp.1 uc002htp.2 uc002htp.3 uc002htp.4 This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020]. Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes. Monomer. Secreted. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P09919-1; Sequence=Displayed; Name=Short; IsoId=P09919-2; Sequence=VSP_002673; O-glycan consists of Gal-GalNAc disaccharide which can be modified with up to two sialic acid residues (done in recombinantly expressed G-CSF from CHO cells). Available under the names Neupogen or Granulokine (Amgen/Roche) and Granocyte (Rhone-Poulenc). Used to treat neutropenia (a disorder characterized by an extremely low number of neutrophils in blood). Belongs to the IL-6 superfamily. PubMed:2420009 misquotes the gene name as "CSF1". Name=Neupogen/Granulokine; Note=Clinical information on Neupogen/Granulokine; URL="http://www.neupogen.com/pi.html"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/csf3/"; cytokine activity granulocyte colony-stimulating factor receptor binding extracellular region extracellular space immune response multicellular organism development growth factor activity positive regulation of cell proliferation positive regulation of phosphatidylinositol 3-kinase signaling cytokine-mediated signaling pathway enzyme binding positive regulation of actin filament polymerization granulocyte differentiation positive regulation of protein binding positive regulation of peptidyl-serine phosphorylation response to ethanol positive regulation of myeloid cell differentiation positive regulation of transcription from RNA polymerase II promoter positive regulation of peptidyl-tyrosine phosphorylation positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of protein kinase B signaling cellular response to lipopolysaccharide cellular response to cytokine stimulus negative regulation of neuron death positive regulation of actin cytoskeleton reorganization  uc002htp.1 uc002htp.2 uc002htp.3 uc002htp.4 
ENST00000225504.8 SUPT4H1 ENST00000225504.8 Homo sapiens SPT4 homolog, DSIF elongation factor subunit (SUPT4H1), transcript variant 2, non-coding RNA. (from RefSeq NR_073470) B2R4X8 D3DTZ4 ENST00000225504.1 ENST00000225504.2 ENST00000225504.3 ENST00000225504.4 ENST00000225504.5 ENST00000225504.6 ENST00000225504.7 NR_073470 P63272 Q16550 Q62387 Q6ZP89 SPT4H SPT4H_HUMAN SUPT4H uc002iwe.1 uc002iwe.2 uc002iwe.3 uc002iwe.4 This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]. Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV- 1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences. Interacts with SUPT5H to form DSIF. DSIF interacts with the positive transcription elongation factor b complex (P-TEFb complex), which is composed of CDK9 and cyclin-T (CCNT1 or CCNT2). DSIF interacts with RNA polymerase II, and this interaction is reduced by phosphorylation of the C-terminal domain (CTD) of POLR2A by P-TEFb. DSIF also interacts with the NELF complex, which is composed of WHSC2/NELFA, COBRA1/NELFB, TH1L/NELFD and RDBP/NELFE, and this interaction occurs following prior binding of DSIF to RNA polymerase II. DSIF also interacts with HRMT1L2/PRMT1, HTATSF1/TATSF1, RNGTT/CAP1A, SKB1/PRMT5, SUPT6H, and can interact with PIN1. O00267:SUPT5H; NbExp=3; IntAct=EBI-727250, EBI-710464; Nucleus. Widely expressed. Belongs to the SPT4 family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding transcription factor activity, sequence-specific DNA binding single-stranded RNA binding protein binding nucleus nucleoplasm chromatin organization chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter zinc ion binding DSIF complex negative regulation of DNA-templated transcription, elongation positive regulation of DNA-templated transcription, elongation negative regulation of transcription elongation from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter metal ion binding protein heterodimerization activity positive regulation of viral transcription  uc002iwe.1 uc002iwe.2 uc002iwe.3 uc002iwe.4 
ENST00000225512.6 WNT3 ENST00000225512.6 Homo sapiens Wnt family member 3 (WNT3), mRNA. (from RefSeq NM_030753) ENST00000225512.1 ENST00000225512.2 ENST00000225512.3 ENST00000225512.4 ENST00000225512.5 INT4 NM_030753 P56703 Q2M237 Q9H1J9 WNT3_HUMAN uc002ikv.1 uc002ikv.2 uc002ikv.3 uc002ikv.4 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC114219.1, SRR1803616.121826.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225512.6/ ENSP00000225512.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand for members of the frizzled family of seven transmembrane receptors. Wnt-3 and Wnt-3a play distinct roles in cell-cell signaling during morphogenesis of the developing neural tube (By similarity). Interacts with PORCN (By similarity). Interacts with WLS (By similarity). Secreted, extracellular space, extracellular matrix. Palmitoylation at Ser-212 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-80. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). Defects in WNT3 are the cause of autosomal recessive tetra-amelia (ARTTRA) [MIM:273395]. Tetra-amelia is a rare human genetic disorder characterized by complete absence of all four limbs and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. Belongs to the Wnt family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNT3"; cell morphogenesis mesoderm formation receptor binding frizzled binding protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum lumen Golgi lumen plasma membrane multicellular organism development gamete generation axon guidance anterior/posterior axis specification dorsal/ventral axis specification anterior/posterior pattern specification positive regulation of gene expression Wnt signaling pathway protein domain specific binding positive regulation of Wnt signaling pathway neuron differentiation endocytic vesicle membrane extracellular matrix embryonic forelimb morphogenesis embryonic hindlimb morphogenesis canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation canonical Wnt signaling pathway involved in osteoblast differentiation cell fate commitment receptor agonist activity anatomical structure formation involved in morphogenesis positive regulation of collateral sprouting in absence of injury negative regulation of axon extension involved in axon guidance regulation of neurogenesis Spemann organizer formation at the anterior end of the primitive streak canonical Wnt signaling pathway limb development limb bud formation head morphogenesis mammary gland epithelium development extracellular exosome cellular response to retinoic acid stem cell proliferation canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation canonical Wnt signaling pathway involved in stem cell proliferation Wnt signalosome  uc002ikv.1 uc002ikv.2 uc002ikv.3 uc002ikv.4 
ENST00000225519.5 SHPK ENST00000225519.5 Homo sapiens sedoheptulokinase (SHPK), mRNA. (from RefSeq NM_013276) B2R640 CARKL ENST00000225519.1 ENST00000225519.2 ENST00000225519.3 ENST00000225519.4 NM_013276 Q8WUH3 Q9UHJ6 SHPK_HUMAN uc002fvz.1 uc002fvz.2 uc002fvz.3 The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF163573.1, BC020543.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225519.5/ ENSP00000225519.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a modulator of macrophage activation through control of glucose metabolism (By similarity). ATP + sedoheptulose = ADP + sedoheptulose 7- phosphate. Kinetic parameters: KM=0.06 mM for sedoheptulose; pH dependence: Optimum pH is 8.5; Cytoplasm (By similarity). Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain. Down-regulated by LPS. Belongs to the FGGY kinase family. nucleotide binding ATP binding cytoplasm cytosol carbohydrate metabolic process pentose-phosphate shunt pentose-phosphate shunt, non-oxidative branch kinase activity phosphorylation transferase activity phosphotransferase activity, alcohol group as acceptor cellular response to interleukin-13 regulation of macrophage activation sedoheptulokinase activity regulation of inflammatory response cellular response to lipopolysaccharide cellular response to interleukin-4  uc002fvz.1 uc002fvz.2 uc002fvz.3 
ENST00000225525.4 TAX1BP3 ENST00000225525.4 Homo sapiens Tax1 binding protein 3 (TAX1BP3), transcript variant 1, mRNA. (from RefSeq NM_014604) B2RD53 D3DTJ6 ENST00000225525.1 ENST00000225525.2 ENST00000225525.3 NM_014604 O14907 Q7LCQ4 TIP1 TX1B3_HUMAN uc002fwc.1 uc002fwc.2 uc002fwc.3 uc002fwc.4 uc002fwc.5 This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]. May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6. Interacts (via its PDZ domain) with GLS2. Interacts (via its PDZ domain) with RTKN (via the C-terminal region); this interaction facilitates Rho-mediated activation of the FOS serum response element (SRE). Interacts (via its PDZ domain) with CTNNB1; this interaction inhibits the transcriptional activity of CTNNB1. Interacts with HTLV-1 TAX protein. Interacts (via PDZ domain) with ARHGEF16. Interacts (via PDZ domain) with KCNJ4 (via C-terminus). Competes with LIN7A for KCNJ4 binding. Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Recruited to the cell membrane by interaction with membrane proteins. Ubiquitous. Detected in brain, heart, kidney, lung, small intestine and skeletal muscle. Detected in various cell lines including HeLa. Weakly expressed in peripheral blood leukocytes. Contains 1 PDZ (DHR) domain. Sequence=AAF43104.1; Type=Erroneous initiation; Note=Translation N-terminally extended; fibrillar center protein binding nucleus cytoplasm cytosol plasma membrane Rho protein signal transduction beta-catenin binding protein C-terminus binding negative regulation of cell proliferation actin cytoskeleton membrane Wnt signaling pathway negative regulation of Wnt signaling pathway intracellular membrane-bounded organelle extracellular exosome activation of GTPase activity negative regulation of protein localization to cell surface  uc002fwc.1 uc002fwc.2 uc002fwc.3 uc002fwc.4 uc002fwc.5 
ENST00000225538.4 P2RX1 ENST00000225538.4 Homo sapiens purinergic receptor P2X 1 (P2RX1), mRNA. (from RefSeq NM_002558) ENST00000225538.1 ENST00000225538.2 ENST00000225538.3 NM_002558 P2RX1_HUMAN P2X1 P51575 Q9UK84 uc002fww.1 uc002fww.2 uc002fww.3 uc002fww.4 uc002fww.5 The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC044657.1, U45448.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMEA2159764 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225538.4/ ENSP00000225538.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). Homo- or heteropolymers (By similarity). Membrane; Multi-pass membrane protein. Belongs to the P2X receptor family. Name=Wikipedia; Note=P2X receptor entry; URL="http://en.wikipedia.org/wiki/P2X_receptor"; Name=Wikipedia; Note=P2RX1 entry; URL="http://en.wikipedia.org/wiki/P2RX1"; purinergic nucleotide receptor activity serotonin secretion by platelet regulation of vascular smooth muscle contraction extracellular ATP-gated cation channel activity ion channel activity cation channel activity ATP binding integral component of nuclear inner membrane plasma membrane integral component of plasma membrane ion transport apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process regulation of smooth muscle contraction signal transduction insemination blood coagulation drug binding regulation of blood pressure zinc ion binding external side of plasma membrane response to organic substance membrane integral component of membrane neuronal action potential regulation of vasoconstriction platelet activation secretory granule membrane macromolecular complex response to ATP synaptic transmission, glutamatergic specific granule membrane purinergic nucleotide receptor signaling pathway neuron projection positive regulation of ion transport neutrophil degranulation membrane raft postsynaptic membrane ceramide biosynthetic process protein homooligomerization protein heterooligomerization regulation of calcium ion transport excitatory postsynaptic potential cation transmembrane transport glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic active zone membrane regulation of presynaptic cytosolic calcium ion concentration regulation of synaptic vesicle exocytosis  uc002fww.1 uc002fww.2 uc002fww.3 uc002fww.4 uc002fww.5 
ENST00000225550.4 KRT37 ENST00000225550.4 Homo sapiens keratin 37 (KRT37), mRNA. (from RefSeq NM_003770) ENST00000225550.1 ENST00000225550.2 ENST00000225550.3 HHA7 HKA7 KRT37_HUMAN KRTHA7 NM_003770 O76014 uc002hwp.1 uc002hwp.2 uc002hwp.3 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AJ786655.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA2155974 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225550.4/ ENSP00000225550.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity cytosol intermediate filament keratinization extracellular exosome cornification  uc002hwp.1 uc002hwp.2 uc002hwp.3 
ENST00000225567.9 GOSR2 ENST00000225567.9 Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant B, mRNA. (from RefSeq NM_054022) D3DXJ5 D3DXJ6 ENST00000225567.1 ENST00000225567.2 ENST00000225567.3 ENST00000225567.4 ENST00000225567.5 ENST00000225567.6 ENST00000225567.7 ENST00000225567.8 GOSR2_HUMAN GS27 NM_054022 O14653 Q8N4B8 Q96DA5 Q9BZZ4 uc002ikz.1 uc002ikz.2 uc002ikz.3 uc002ikz.4 uc002ikz.5 This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]. Involved in transport of proteins from the cis/medial- Golgi to the trans-Golgi network. Identified in a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6 (By similarity). Golgi apparatus membrane; Single-pass type IV membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=A; IsoId=O14653-1; Sequence=Displayed; Name=B; IsoId=O14653-2; Sequence=VSP_001829; Name=3; IsoId=O14653-3; Sequence=VSP_043200; Defects in GOSR2 are the cause of progressive myoclonic epilepsy type 6 (EPM6) [MIM:614018]. A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. Belongs to the GOSR2 family. Golgi membrane SNARE binding SNAP receptor activity protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol protein targeting to vacuole ER to Golgi vesicle-mediated transport intra-Golgi vesicle-mediated transport Golgi to vacuole transport ER to Golgi transport vesicle membrane protein transport membrane integral component of membrane vesicle-mediated transport SNARE complex late endosome membrane endoplasmic reticulum-Golgi intermediate compartment membrane IRE1-mediated unfolded protein response retrograde transport, endosome to Golgi COPII vesicle coating vesicle fusion with Golgi apparatus  uc002ikz.1 uc002ikz.2 uc002ikz.3 uc002ikz.4 uc002ikz.5 
ENST00000225573.5 PNPO ENST00000225573.5 Catalyzes the oxidation of either pyridoxine 5'- phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). (from UniProt Q9NVS9) AK001397 D3DTT9 ENST00000225573.1 ENST00000225573.2 ENST00000225573.3 ENST00000225573.4 PNPO_HUMAN Q9NVS9 uc010wlb.1 uc010wlb.2 uc010wlb.3 uc010wlb.4 Catalyzes the oxidation of either pyridoxine 5'- phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). Pyridoxamine 5'-phosphate + H(2)O + O(2) = pyridoxal 5'-phosphate + NH(3) + H(2)O(2). Pyridoxine 5'-phosphate + O(2) = pyridoxal 5'- phosphate + H(2)O(2). Binds 1 FMN per subunit. Cofactor biosynthesis; B6 vitamer interconversion; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate: step 1/1. Cofactor biosynthesis; B6 vitamer interconversion; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate: step 1/1. Homodimer. Defects in PNPO are the cause of pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]; also known as PNPO-related neonatal epileptic encephalopathy. The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine. Belongs to the pyridoxamine 5'-phosphate oxidase family. pyridoxamine-phosphate oxidase activity protein binding nucleoplasm cytosol pyridoxine biosynthetic process FMN binding oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors pyridoxal phosphate binding protein homodimerization activity vitamin B6 metabolic process pyridoxal phosphate biosynthetic process cofactor binding oxidation-reduction process  uc010wlb.1 uc010wlb.2 uc010wlb.3 uc010wlb.4 
ENST00000225576.7 TVP23C ENST00000225576.7 Homo sapiens trans-golgi network vesicle protein 23 homolog C (TVP23C), transcript variant 1, mRNA. (from RefSeq NM_145301) ENST00000225576.1 ENST00000225576.2 ENST00000225576.3 ENST00000225576.4 ENST00000225576.5 ENST00000225576.6 F18B2_HUMAN FAM18B2 NM_145301 Nbla10383 Q3LIC7 Q96ET8 uc002goq.1 uc002goq.2 uc002goq.3 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96ET8-1; Sequence=Displayed; Name=2; IsoId=Q96ET8-2; Sequence=VSP_017019, VSP_017020; Note=No experimental confirmation available; Name=3; IsoId=Q96ET8-3; Sequence=VSP_040556, VSP_040557; Note=Ref.2 (AK310363) sequence is in conflict in positions: 199:S->T, 202:W->R; Belongs to the FAM18/TVP23 family. protein secretion membrane integral component of membrane vesicle-mediated transport integral component of Golgi membrane  uc002goq.1 uc002goq.2 uc002goq.3 
ENST00000225577.9 RPS6KB1 ENST00000225577.9 Homo sapiens ribosomal protein S6 kinase B1 (RPS6KB1), transcript variant 23, non-coding RNA. (from RefSeq NR_161462) ENST00000225577.1 ENST00000225577.2 ENST00000225577.3 ENST00000225577.4 ENST00000225577.5 ENST00000225577.6 ENST00000225577.7 ENST00000225577.8 KS6B1_HUMAN NR_161462 P23443 STK14A uc002ixy.1 uc002ixy.2 uc002ixy.3 uc002ixy.4 uc002ixy.5 uc002ixy.6 This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.170503.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## Serine/threonine-protein kinase that acts downstream of mTOR signaling in response to growth factors and nutrients to promote cell proliferation, cell growth and cell cycle progression. Regulates protein synthesis through phosphorylation of EIF4B, RPS6 and EEF2K, and contributes to cell survival by repressing the pro-apoptotic function of BAD. Under conditions of nutrient depletion, the inactive form associates with the EIF3 translation initiation complex. Upon mitogenic stimulation, phosphorylation by the mammalian target of rapamycin complex 1 (mTORC1) leads to dissociation from the EIF3 complex and activation. The active form then phosphorylates and activates several substrates in the preinitiation complex, including the EIF2B complex and the cap-binding complex component EIF4B. Also controls translation initiation by phosphorylating a negative regulator of EIF4A, PDCD4, targeting it for ubiquitination and subsequent proteolysis. Promotes initiation of the pioneer round of protein synthesis by phosphorylating POLDIP3/SKAR. In response to IGF1, activates translation elongation by phosphorylating EEF2 kinase (EEF2K), which leads to its inhibition and thus activation of EEF2. Also plays a role in feedback regulation of mTORC2 by mTORC1 by phosphorylating RICTOR, resulting in the inhibition of mTORC2 and AKT1 signaling. Mediates cell survival by phosphorylating the pro-apoptotic protein BAD and suppressing its pro-apoptotic function. Phosphorylates mitochondrial URI1 leading to dissociation of a URI1-PPP1CC complex. The free mitochondrial PPP1CC can then dephosphorylate RPS6KB1 at 'Thr-412', which is proposed to be a negative feedback mechanism for the RPS6KB1 anti- apoptotic function. Mediates TNF-alpha-induced insulin resistance by phosphorylating IRS1 at multiple serine residues, resulting in accelerated degradation of IRS1. In cells lacking functional TSC1- 2 complex, constitutively phosphorylates and inhibits GSK3B. May be involved in cytoskeletal rearrangement through binding to neurabin. ATP + a protein = ADP + a phosphoprotein. Inactivated by binding to URI1. Activation requires multiple phosphorylation events on serine/threonine residues. Activation appears to be first mediated by phosphorylation of multiple sites in the autoinhibitory domain, which facilitates phosphorylation at Thr-412, disrupting the autoinhibitory mechanism and allowing phosphorylation of Thr-252 by PDPK1. The active conformation of the kinase is believed to be stabilized by a mechanism involving three conserved phosphorylation sites located in the kinase domain activation loop (Thr-252) and in the AGC-kinase C-terminal domain (Ser-394 in the middle of the tail/linker region and Thr-412 within a hydrophobic motif at its end). Activated by mTORC1; isoform Alpha I and isoform Alpha II are sensitive to rapamycin, which inhibits activating phosphorylation at Thr-412. Activated by PDPK1. Interacts with PPP1R9A/neurabin-1 (By similarity). Interacts with RPTOR. Interacts with IRS1. Interacts with EIF3B and EIF3C. Interacts with POLDIP3 and TRAF4. P08151:GLI1; NbExp=4; IntAct=EBI-1775921, EBI-308084; Q00005:PPP2R2B; NbExp=2; IntAct=EBI-1775921, EBI-1052159; Cell junction, synapse, synaptosome (By similarity). Mitochondrion outer membrane. Mitochondrion. Note=Colocalizes with URI1 at mitochondrion. Isoform Alpha I: Nucleus. Cytoplasm. Isoform Alpha II: Cytoplasm. Event=Alternative initiation; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=Alpha I; Synonyms=p80-S6K 1; IsoId=P23443-1; Sequence=Displayed; Name=Alpha II; IsoId=P23443-2; Sequence=VSP_018839; Widely expressed. The autoinhibitory domain is believed to block phosphorylation within the AGC-kinase C-terminal domain and the activation loop. The TOS (TOR signaling) motif is essential for activation by mTORC1 (By similarity). Phosphorylation at Thr-412 is regulated by mTORC1. The phosphorylation at this site is maintained by an agonist-dependent autophosphorylation mechanism (By similarity). Activated by phosphorylation at Thr-252 by PDPK1. Dephosphorylation by PPP1CC at Thr-412 in mitochondrion. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. G1/S transition of mitotic cell cycle nucleotide binding protein kinase activity protein serine/threonine kinase activity ribosomal protein S6 kinase activity protein serine/threonine/tyrosine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion mitochondrial outer membrane cytosol regulation of translation protein phosphorylation apoptotic process cell cycle signal transduction membrane kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation cell junction response to nutrient levels TOR signaling cellular response to insulin stimulus intracellular signal transduction neuron projection negative regulation of apoptotic process long-chain fatty acid import synapse positive regulation of translation positive regulation of mitotic cell cycle positive regulation of translational initiation negative regulation of insulin receptor signaling pathway phosphatidylinositol-mediated signaling cellular response to growth factor stimulus  uc002ixy.1 uc002ixy.2 uc002ixy.3 uc002ixy.4 uc002ixy.5 uc002ixy.6 
ENST00000225587.1 ZNF29P ENST00000225587.1 zinc finger protein 29, pseudogene (from HGNC ZNF29P) X52357 uc286njn.1  uc286njn.1 
ENST00000225603.9 CBX1 ENST00000225603.9 Homo sapiens chromobox 1 (CBX1), transcript variant 2, mRNA. (from RefSeq NM_001127228) ENST00000225603.1 ENST00000225603.2 ENST00000225603.3 ENST00000225603.4 ENST00000225603.5 ENST00000225603.6 ENST00000225603.7 ENST00000225603.8 NM_001127228 Q6IBN6 Q6IBN6_HUMAN hCG_2000655 uc002ine.1 uc002ine.2 uc002ine.3 uc002ine.4 uc002ine.5 This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]. chromatin female pronucleus male pronucleus nucleus pericentric heterochromatin chromocenter identical protein binding protein homodimerization activity negative regulation of transcription, DNA-templated  uc002ine.1 uc002ine.2 uc002ine.3 uc002ine.4 uc002ine.5 
ENST00000225609.10 PIGL ENST00000225609.10 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class L (PIGL), mRNA. (from RefSeq NM_004278) A8KA67 ENST00000225609.1 ENST00000225609.2 ENST00000225609.3 ENST00000225609.4 ENST00000225609.5 ENST00000225609.6 ENST00000225609.7 ENST00000225609.8 ENST00000225609.9 NM_004278 PIGL_HUMAN Q9Y2B2 uc002gpv.1 uc002gpv.2 uc002gpv.3 uc002gpv.4 uc002gpv.5 This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK292932.1, SRR1660809.72037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225609.10/ ENSP00000225609.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the second step of GPI biosynthesis. De-N- acetylation of N-acetylglucosaminyl-phosphatidylinositol. 6-(N-acetyl-alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1- phosphatidyl-1D-myo-inositol + acetate. Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis. Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Defects in PIGL are the cause of coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]. An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. Belongs to the PIGL family. N-acetylglucosaminylphosphatidylinositol deacetylase activity endoplasmic reticulum endoplasmic reticulum membrane GPI anchor biosynthetic process membrane integral component of membrane preassembly of GPI anchor in ER membrane hydrolase activity  uc002gpv.1 uc002gpv.2 uc002gpv.3 uc002gpv.4 uc002gpv.5 
ENST00000225614.6 GALK1 ENST00000225614.6 Homo sapiens galactokinase 1 (GALK1), transcript variant 2, mRNA. (from RefSeq NM_001381985) ENST00000225614.1 ENST00000225614.2 ENST00000225614.3 ENST00000225614.4 ENST00000225614.5 NM_001381985 V9HWE7 uc032frw.1 uc032frw.2 Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008].  uc032frw.1 uc032frw.2 
ENST00000225648.4 HOXB6 ENST00000225648.4 Homo sapiens homeobox B6 (HOXB6), transcript variant 1, mRNA. (from RefSeq NM_018952) A8K835 D3DTV5 ENST00000225648.1 ENST00000225648.2 ENST00000225648.3 HOX2B HXB6_HUMAN NM_018952 P09068 P17509 Q9HB11 Q9UGH2 uc002ins.1 uc002ins.2 uc002ins.3 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC014651.1, BG332853.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225648.4/ ENSP00000225648.3 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P17509-1; Sequence=Displayed; Name=2; Synonyms=Homeobox-less; IsoId=P17509-2; Sequence=VSP_002388, VSP_002389; Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding RNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development anterior/posterior pattern specification erythrocyte homeostasis sequence-specific DNA binding embryonic skeletal system morphogenesis embryonic skeletal system development  uc002ins.1 uc002ins.2 uc002ins.3 
ENST00000225655.6 PFN1 ENST00000225655.6 Homo sapiens profilin 1 (PFN1), transcript variant 2, mRNA. (from RefSeq NM_005022) ENST00000225655.1 ENST00000225655.2 ENST00000225655.3 ENST00000225655.4 ENST00000225655.5 NM_005022 P07737 PROF1_HUMAN Q53Y44 uc002gaa.1 uc002gaa.2 uc002gaa.3 uc002gaa.4 uc002gaa.5 uc002gaa.6 This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.11029.1, SRR1163657.160382.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225655.6/ ENSP00000225655.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR. Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio. Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with VASP. Interacts with HTT. Q92558:WASF1; NbExp=2; IntAct=EBI-713780, EBI-1548747; O08816:Wasl (xeno); NbExp=4; IntAct=EBI-713780, EBI-6142604; Cytoplasm, cytoskeleton. Expressed in epididymis (at protein level). Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its ability to inhibit androgen receptor (AR) and HTT aggregation. Belongs to the profilin family. adenyl-nucleotide exchange factor activity neural tube closure RNA binding actin binding actin monomer binding protein binding phosphatidylinositol-4,5-bisphosphate binding nucleus cytoplasm cytosol cytoskeleton focal adhesion cell cortex regulation of transcription from RNA polymerase II promoter positive regulation of epithelial cell migration membrane Rho GTPase binding actin cytoskeleton organization regulation of actin filament polymerization negative regulation of actin filament polymerization positive regulation of actin filament polymerization negative regulation of actin filament bundle assembly positive regulation of actin filament bundle assembly positive regulation of ATPase activity cadherin binding protein stabilization negative regulation of stress fiber assembly Wnt signaling pathway, planar cell polarity pathway synapse maturation extracellular exosome proline-rich region binding blood microparticle modification of postsynaptic actin cytoskeleton glutamatergic synapse positive regulation of ruffle assembly  uc002gaa.1 uc002gaa.2 uc002gaa.3 uc002gaa.4 uc002gaa.5 uc002gaa.6 
ENST00000225665.12 SLC25A11 ENST00000225665.12 Homo sapiens solute carrier family 25 member 11 (SLC25A11), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_003562) ENST00000225665.1 ENST00000225665.10 ENST00000225665.11 ENST00000225665.2 ENST00000225665.3 ENST00000225665.4 ENST00000225665.5 ENST00000225665.6 ENST00000225665.7 ENST00000225665.8 ENST00000225665.9 NM_003562 Q6IBH0 Q6IBH0_HUMAN hCG_32694 uc002fzo.1 uc002fzo.2 uc002fzo.3 uc002fzo.4 The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]. Belongs to the mitochondrial carrier family. membrane integral component of membrane  uc002fzo.1 uc002fzo.2 uc002fzo.3 uc002fzo.4 
ENST00000225688.4 RASD1 ENST00000225688.4 Homo sapiens ras related dexamethasone induced 1 (RASD1), transcript variant 1, mRNA. (from RefSeq NM_016084) AGS1 B2R709 DEXRAS1 ENST00000225688.1 ENST00000225688.2 ENST00000225688.3 NM_016084 Q9NYB4 Q9Y272 RASD1_HUMAN uc002gri.1 uc002gri.2 uc002gri.3 uc002gri.4 uc002gri.5 This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]. Small GTPase. Negatively regulates the transcription regulation activity of the APBB1/FE65-APP complex via its interaction with APBB1/FE65 (By similarity). Forms a ternary complex with CAPON and NOS1. Component of a complex, at least composed of APBB1, RASD1/DEXRAS1 and APP. Interacts with APBB1/FE65 (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Cytoplasm, perinuclear region (By similarity). Nucleus (By similarity). Expressed in a variety of tissues including heart, cardiovascular tissues, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, gastrointestinal and reproductive tissues. By dexamethasone. S-nitrosylation stimulates guanine-nucleotide exchange activity. Belongs to the small GTPase superfamily. RasD family. nucleotide binding GTPase activity protein binding GTP binding nucleus cytoplasm plasma membrane signal transduction G-protein coupled receptor signaling pathway nitric oxide mediated signal transduction membrane sarcoplasmic reticulum negative regulation of transcription, DNA-templated perinuclear region of cytoplasm  uc002gri.1 uc002gri.2 uc002gri.3 uc002gri.4 uc002gri.5 
ENST00000225696.9 NUP88 ENST00000225696.9 Homo sapiens nucleoporin 88 (NUP88), transcript variant 1, mRNA. (from RefSeq NM_001320653) ENST00000225696.1 ENST00000225696.2 ENST00000225696.3 ENST00000225696.4 ENST00000225696.5 ENST00000225696.6 ENST00000225696.7 ENST00000225696.8 J3KMX1 J3KMX1_HUMAN NM_001320653 uc060aat.1 uc060aat.2 The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. ribosomal large subunit export from nucleus ribosomal small subunit export from nucleus nucleoplasm nucleocytoplasmic transport structural constituent of nuclear pore  uc060aat.1 uc060aat.2 
ENST00000225698.8 C1QBP ENST00000225698.8 Homo sapiens complement C1q binding protein (C1QBP), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001212) C1QBP_HUMAN ENST00000225698.1 ENST00000225698.2 ENST00000225698.3 ENST00000225698.4 ENST00000225698.5 ENST00000225698.6 ENST00000225698.7 GC1QBP HABP1 NM_001212 Q07021 Q2HXR8 Q9NNY8 SF2P32 uc002gby.1 uc002gby.2 The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.675649.1, SRR1163655.239161.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267753, SAMN03267760 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225698.8/ ENSP00000225698.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the globular "heads" of C1Q thus inhibiting C1 activation. Interacts with Rubella virus capsid protein. Interacts with HIV-1 Tat. Interacts with CDK13. Interacts with HRK. Mitochondrion matrix. Nucleus. Note=Might also be nuclear in some cell types. Belongs to the MAM33 family. Was originally (PubMed:1830244 and PubMed:8262387) thought to be a pre-mRNA splicing factor SF2 p32 subunit and to play a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c1qbp/"; negative regulation of transcription from RNA polymerase II promoter complement component C1q binding adaptive immune response immune system process transcription corepressor activity mRNA binding protein kinase C binding protein binding hyaluronic acid binding extracellular region extracellular space nucleus nucleolus cytoplasm mitochondrion mitochondrial matrix cytosol plasma membrane mRNA processing apoptotic process immune response complement activation, classical pathway blood coagulation, intrinsic pathway transcription factor binding RNA splicing translation activator activity cell surface phosphatidylinositol 3-kinase signaling membrane viral process regulation of complement activation kininogen binding adrenergic receptor binding negative regulation of interferon-gamma production negative regulation of interleukin-12 production negative regulation of MDA-5 signaling pathway negative regulation of RIG-I signaling pathway ribosome biogenesis mature ribosome assembly positive regulation of apoptotic process innate immune response positive regulation of cell adhesion negative regulation of mRNA splicing, via spliceosome presynaptic active zone negative regulation of defense response to virus positive regulation of protein kinase B signaling positive regulation of mitochondrial translation positive regulation of neutrophil chemotaxis mitochondrial ribosome binding presynapse glutamatergic synapse GABA-ergic synapse positive regulation of substrate adhesion-dependent cell spreading positive regulation of trophoblast cell migration positive regulation of dendritic cell chemotaxis  uc002gby.1 uc002gby.2 
ENST00000225719.9 CPD ENST00000225719.9 Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. (from RefSeq NM_001304) CBPD_HUMAN ENST00000225719.1 ENST00000225719.2 ENST00000225719.3 ENST00000225719.4 ENST00000225719.5 ENST00000225719.6 ENST00000225719.7 ENST00000225719.8 NM_001304 O15377 O75976 Q86SH9 Q86XE6 uc002hfb.1 uc002hfb.2 uc002hfb.3 uc002hfb.4 The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]. Releases C-terminal Arg and Lys from polypeptides. Binds 2 zinc ions per subunit (By similarity). pH dependence: Optimum pH is 6.0-6.5; Membrane; Single-pass type I membrane protein (Potential). Highly expressed in placenta, pancreas and hepatoma cells. Lower levels found in skeletal muscle, heart and colon carcinoma and melanoma cell lines. There are 3 carboxypeptidase-like domains. Only the first two domains seem to have kept a catalytic activity. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity serine-type carboxypeptidase activity extracellular space plasma membrane proteolysis peptide metabolic process peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane protein processing hydrolase activity metal ion binding extracellular exosome  uc002hfb.1 uc002hfb.2 uc002hfb.3 uc002hfb.4 
ENST00000225724.9 GOSR1 ENST00000225724.9 Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA. (from RefSeq NM_004871) ENST00000225724.1 ENST00000225724.2 ENST00000225724.3 ENST00000225724.4 ENST00000225724.5 ENST00000225724.6 ENST00000225724.7 ENST00000225724.8 GOSR1_HUMAN GS28 NM_004871 O75392 O95249 uc002hfe.1 uc002hfe.2 uc002hfe.3 uc002hfe.4 This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide- sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi. Component of several multiprotein Golgi SNARE complexes. Identified in a SNARE complex with BET1, STX5 and YKT6, in a SNARE complex with BET1L, STX5 and YKT6, in a SNARE complex with STX5, GOSR2, SEC22B and BET1, and in complex with STX5 and COG3. Interacts with GABARAPL2 (By similarity). Golgi apparatus membrane; Single-pass type IV membrane protein. Note=Enriched on vesicular components at the terminal rims of the Golgi. Found in Golgi microtubules at low temperature (15 degrees Celsius). Expression induced by hydrogen peroxide in neuronal cells. By monocrotaline in pulmonary epithelial cells (at protein level). Negatively regulated by OSBPL7 via GABARAPL2 leading to degradation on proteasomes (at protein level). Belongs to the GOSR1 family. Golgi membrane SNAP receptor activity Golgi apparatus Golgi medial cisterna cis-Golgi network cytosol ER to Golgi vesicle-mediated transport intra-Golgi vesicle-mediated transport vesicle fusion protein transport membrane integral component of membrane vesicle-mediated transport transport vesicle SNARE complex retrograde transport, endosome to Golgi regulation of vesicle targeting, to, from or within Golgi  uc002hfe.1 uc002hfe.2 uc002hfe.3 uc002hfe.4 
ENST00000225726.10 CCDC47 ENST00000225726.10 Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA. (from RefSeq NM_020198) B2RAS8 CCD47_HUMAN D3DU20 ENST00000225726.1 ENST00000225726.2 ENST00000225726.3 ENST00000225726.4 ENST00000225726.5 ENST00000225726.6 ENST00000225726.7 ENST00000225726.8 ENST00000225726.9 GK001 MSTP041 NM_020198 PSEC0077 Q96A33 Q96D00 Q96JZ7 Q9H3E4 Q9NRG3 uc002jbs.1 uc002jbs.2 uc002jbs.3 uc002jbs.4 uc002jbs.5 uc002jbs.6 Q99J34:Irak1 (xeno); NbExp=2; IntAct=EBI-720151, EBI-6117042; Q92985:IRF7; NbExp=2; IntAct=EBI-720151, EBI-968267; Q6PDS3:Sarm1 (xeno); NbExp=2; IntAct=EBI-720151, EBI-6117196; P58753:TIRAP; NbExp=2; IntAct=EBI-720151, EBI-528644; Q86WV6:TMEM173; NbExp=2; IntAct=EBI-720151, EBI-2800345; Membrane; Single-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96A33-1; Sequence=Displayed; Name=2; IsoId=Q96A33-2; Sequence=VSP_018478; Sequence=AAG39292.1; Type=Frameshift; Positions=306; osteoblast differentiation RNA binding calcium ion binding protein binding endoplasmic reticulum endoplasmic reticulum membrane rough endoplasmic reticulum ER overload response endoplasmic reticulum organization post-embryonic development membrane integral component of membrane ER-associated ubiquitin-dependent protein catabolic process rough endoplasmic reticulum membrane endoplasmic reticulum calcium ion homeostasis ERAD pathway calcium ion homeostasis  uc002jbs.1 uc002jbs.2 uc002jbs.3 uc002jbs.4 uc002jbs.5 uc002jbs.6 
ENST00000225728.8 MED31 ENST00000225728.8 Homo sapiens mediator complex subunit 31 (MED31), mRNA. (from RefSeq NM_016060) B2R4L9 CGI-125 ENST00000225728.1 ENST00000225728.2 ENST00000225728.3 ENST00000225728.4 ENST00000225728.5 ENST00000225728.6 ENST00000225728.7 MED31_HUMAN NM_016060 Q9Y3C7 SOH1 uc002gdg.1 uc002gdg.2 uc002gdg.3 uc002gdg.4 uc002gdg.5 uc002gdg.6 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. O95257:GADD45G; NbExp=2; IntAct=EBI-394707, EBI-448202; P42858:HTT; NbExp=3; IntAct=EBI-394707, EBI-466029; Nucleus (Probable). Belongs to the Mediator complex subunit 31 family. ubiquitin ligase complex transcription cofactor activity transcription coactivator activity protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein ubiquitination mediator complex negative regulation of fibroblast proliferation limb development ubiquitin protein ligase activity core mediator complex positive regulation of nucleic acid-templated transcription  uc002gdg.1 uc002gdg.2 uc002gdg.3 uc002gdg.4 uc002gdg.5 uc002gdg.6 
ENST00000225729.8 DRG2 ENST00000225729.8 Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), transcript variant 1, mRNA. (from RefSeq NM_001388) B2R8G5 DRG2_HUMAN ENST00000225729.1 ENST00000225729.2 ENST00000225729.3 ENST00000225729.4 ENST00000225729.5 ENST00000225729.6 ENST00000225729.7 NM_001388 P55039 Q53Y50 Q9BWB2 uc002gsh.1 uc002gsh.2 uc002gsh.3 uc002gsh.4 This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.932256.1, SRR3476690.882587.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225729.8/ ENSP00000225729.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May play a role in cell proliferation, differentiation and death. Interacts with RWDD1 (By similarity). Cytoplasm. Highest levels in skeletal muscle, heart and kidney. Low levels in colon, thymus, spleen, small intestine, lung and Leukocytes. Polyubiquitinated; which induces proteolytic degradation and is impaired by interaction with RWDD1 (By similarity). Belongs to the GTP1/OBG family. Contains 1 G (guanine nucleotide-binding) domain. nucleotide binding cytoplasmic translation RNA binding GTPase activity protein binding GTP binding nucleus nucleoplasm cytoplasm cytosol signal transduction membrane hydrolase activity intracellular membrane-bounded organelle metal ion binding  uc002gsh.1 uc002gsh.2 uc002gsh.3 uc002gsh.4 
ENST00000225737.11 AKAP10 ENST00000225737.11 Homo sapiens A-kinase anchoring protein 10 (AKAP10), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_007202) AKA10_HUMAN B2R650 ENST00000225737.1 ENST00000225737.10 ENST00000225737.2 ENST00000225737.3 ENST00000225737.4 ENST00000225737.5 ENST00000225737.6 ENST00000225737.7 ENST00000225737.8 ENST00000225737.9 NM_007202 O43572 Q96AJ7 uc002gwo.1 uc002gwo.2 uc002gwo.3 uc002gwo.4 uc002gwo.5 uc002gwo.6 This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.256198.1, SRR1803612.244754.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225737.11/ ENSP00000225737.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). Mitochondrion. Membrane. Cytoplasm. Note=Predominantly mitochondrial but also membrane associated and cytoplasmic. RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. Genetic variations in AKAP10 are a cause of susceptibility to sudden cardiac death (SCD) [MIM:115080]. Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. Note=Increased susceptibility to sudden cardiac death may be conferred by AKAP10 variants that are associated with markers of low vagus nerve sensitivity, e.g. fast basal heart rate and low heart rate variability. Contains 2 RGS domains. protein binding cytoplasm mitochondrion cytosol plasma membrane signal transduction blood coagulation protein localization membrane macromolecular complex protein kinase A binding  uc002gwo.1 uc002gwo.2 uc002gwo.3 uc002gwo.4 uc002gwo.5 uc002gwo.6 
ENST00000225740.11 ALDH3A1 ENST00000225740.11 Homo sapiens aldehyde dehydrogenase 3 family member A1 (ALDH3A1), transcript variant 2, mRNA. (from RefSeq NM_000691) A8K828 AL3A1_HUMAN ALDH3 ENST00000225740.1 ENST00000225740.10 ENST00000225740.2 ENST00000225740.3 ENST00000225740.4 ENST00000225740.5 ENST00000225740.6 ENST00000225740.7 ENST00000225740.8 ENST00000225740.9 NM_000691 P30838 Q9BT37 uc002gwj.1 uc002gwj.2 uc002gwj.3 uc002gwj.4 uc002gwj.5 Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]. ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. This protein preferentially oxidizes aromatic aldehyde substrates. It may play a role in the oxidation of toxic aldehydes. An aldehyde + NAD(P)(+) + H(2)O = a carboxylate + NAD(P)H. Kinetic parameters: Note=Has a high Km for acetaldehyde; Homodimer. Cytoplasm. High levels in stomach, esophagus and lung; low level in the liver and kidney. Belongs to the aldehyde dehydrogenase family. response to hypoxia 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity aldehyde dehydrogenase [NAD(P)+] activity protein binding extracellular space cytoplasm endoplasmic reticulum cytosol plasma membrane cellular aldehyde metabolic process xenobiotic metabolic process aging response to nutrient alcohol dehydrogenase (NADP+) activity positive regulation of cell proliferation response to organic cyclic compound integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor benzaldehyde dehydrogenase (NAD+) activity response to drug response to glucocorticoid response to cAMP oxidation-reduction process  uc002gwj.1 uc002gwj.2 uc002gwj.3 uc002gwj.4 uc002gwj.5 
ENST00000225742.13 SMARCD2 ENST00000225742.13 Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), transcript variant 2, mRNA. (from RefSeq NM_001330439) ENST00000225742.1 ENST00000225742.10 ENST00000225742.11 ENST00000225742.12 ENST00000225742.2 ENST00000225742.3 ENST00000225742.4 ENST00000225742.5 ENST00000225742.6 ENST00000225742.7 ENST00000225742.8 ENST00000225742.9 J3KMX2 J3KMX2_HUMAN NM_001330439 uc010dea.1 uc010dea.2 The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK307944.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleoplasm SWI/SNF complex ATP-dependent chromatin remodeling  uc010dea.1 uc010dea.2 
ENST00000225760.5 PRR29 ENST00000225760.5 proline rich 29 (from HGNC PRR29) BC045676 ENST00000225760.1 ENST00000225760.2 ENST00000225760.3 ENST00000225760.4 uc060itr.1  uc060itr.1 
ENST00000225777.8 SYNGR2 ENST00000225777.8 Homo sapiens synaptogyrin 2 (SYNGR2), transcript variant 1, mRNA. (from RefSeq NM_004710) ENST00000225777.1 ENST00000225777.2 ENST00000225777.3 ENST00000225777.4 ENST00000225777.5 ENST00000225777.6 ENST00000225777.7 NM_004710 O43760 O43762 Q658S7 SNG2_HUMAN UNQ352/PRO615 uc002juu.1 uc002juu.2 uc002juu.3 This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: BC029755.1, AY358916.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein. Cytoplasmic vesicle (By similarity). Ubiquitous; low expression in brain. Belongs to the synaptogyrin family. Contains 1 MARVEL domain. protein binding lipid particle synaptic vesicle membrane integral component of membrane cell junction cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle neuromuscular junction regulated exocytosis synapse synaptic vesicle membrane organization extracellular exosome  uc002juu.1 uc002juu.2 uc002juu.3 
ENST00000225792.10 DDX5 ENST00000225792.10 Homo sapiens DEAD-box helicase 5 (DDX5), transcript variant 2, mRNA. (from RefSeq NM_004396) B5BU21 D3DU32 DDX5_HUMAN ENST00000225792.1 ENST00000225792.2 ENST00000225792.3 ENST00000225792.4 ENST00000225792.5 ENST00000225792.6 ENST00000225792.7 ENST00000225792.8 ENST00000225792.9 G17P1 HELR HLR1 NM_004396 O75681 P17844 Q53Y61 uc002jek.1 uc002jek.2 uc002jek.3 uc002jek.4 This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]. Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for estrogen receptor ESR1 and androgen receptor AR. Increases ESR1 AF-1 domain-mediated transactivation and ESR1 AF-1 and AF-2 domains transcriptional synergistic activity. Synergizes with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Transcriptional coactivator for p53/TP53 and involved in p53/TP53 transcriptional response to DNA damage and p53/TP53-dependent apoptosis. Transcriptional coactivator for RUNX2 and involved in regulation of osteoblast differentiation. Acts as transcriptional repressor in a promoter-specicic manner; the function probbaly involves association with histone deacetylases, such as HDAC1. ATP + H(2)O = ADP + phosphate. Interacts with BRDT (By similarity). Identified in the spliceosome C complex. Interacts with RBM4; the interaction occurs in a RNA-independent manner. Interacts with EIF2C1 and EIF2C2. Interacts with ESR1; the interaction is enhanced by phosphorylation of ESR1 AF-1 domain. Interacts with AR, NCOA1, NCOA2, NCOA3, EP300, CREBBP, POLR2A, TP53, RUNX2 and HDAC1. Self- associates. Interacts with DDX17. Q12873:CHD3; NbExp=4; IntAct=EBI-351962, EBI-523590; P45481:Crebbp (xeno); NbExp=3; IntAct=EBI-351962, EBI-296306; Q09472:EP300; NbExp=4; IntAct=EBI-351962, EBI-447295; P03372:ESR1; NbExp=8; IntAct=EBI-351962, EBI-78473; P22087:FBL; NbExp=6; IntAct=EBI-351962, EBI-358318; Q13547:HDAC1; NbExp=4; IntAct=EBI-351962, EBI-301834; O95983:MBD3; NbExp=4; IntAct=EBI-351962, EBI-1783068; P10085:Myod1 (xeno); NbExp=3; IntAct=EBI-351962, EBI-4405734; P24928:POLR2A; NbExp=3; IntAct=EBI-351962, EBI-295301; Q08775-3:Runx2 (xeno); NbExp=2; IntAct=EBI-351962, EBI-6119991; P04637:TP53; NbExp=3; IntAct=EBI-351962, EBI-366083; P04637-1:TP53; NbExp=2; IntAct=EBI-351962, EBI-3895849; P04637-7:TP53; NbExp=2; IntAct=EBI-351962, EBI-3895873; Nucleus, nucleolus. Arg-502 is dimethylated, probably to asymmetric dimethylarginine. Sumoylated; sumoylation, promoted by PIAS1, promotes interaction with HDAC1 and transcriptional repression activity. Sumoylation also significantly increases stability, and reduces polyubiquitination. Polyubiquitinated, leading to proteasomal degradation. Belongs to the DEAD box helicase family. DDX5/DBP2 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. negative regulation of transcription from RNA polymerase II promoter nucleotide binding alternative mRNA splicing, via spliceosome regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nuclear-transcribed mRNA catabolic process epithelial to mesenchymal transition nucleic acid binding RNA binding RNA helicase activity mRNA 3'-UTR binding helicase activity protein binding calmodulin binding ATP binding nucleus nucleoplasm spliceosomal complex nucleolus cytoplasm regulation of transcription from RNA polymerase II promoter mRNA processing RNA splicing mRNA transcription membrane hydrolase activity enzyme binding BMP signaling pathway intracellular estrogen receptor signaling pathway androgen receptor signaling pathway MH2 domain binding pre-mRNA binding ribonucleoprotein complex binding positive regulation of DNA damage response, signal transduction by p53 class mediator regulation of viral genome replication myoblast differentiation regulation of osteoblast differentiation SMAD binding calcium-dependent protein binding rhythmic process androgen receptor binding regulation of androgen receptor signaling pathway pri-miRNA transcription from RNA polymerase II promoter extracellular exosome R-SMAD binding primary miRNA binding catalytic step 2 spliceosome intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of production of miRNAs involved in gene silencing by miRNA promoter-specific chromatin binding ribonucleoprotein complex regulation of skeletal muscle cell differentiation regulation of pri-miRNA transcription from RNA polymerase II promoter  uc002jek.1 uc002jek.2 uc002jek.3 uc002jek.4 
ENST00000225823.7 ASIC2 ENST00000225823.7 Homo sapiens acid sensing ion channel subunit 2 (ASIC2), transcript variant MDEG2, mRNA. (from RefSeq NM_183377) ACCN ACCN1 ASIC2_HUMAN BNAC1 ENST00000225823.1 ENST00000225823.2 ENST00000225823.3 ENST00000225823.4 ENST00000225823.5 ENST00000225823.6 MDEG NM_183377 Q13553 Q16515 Q6DJU1 Q8N3E2 uc002hht.1 uc002hht.2 uc002hht.3 uc002hht.4 uc002hht.5 This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]. Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate. Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM (By similarity). Interacts with PRKCABP and ASIC3. Q9NRD5:PICK1; NbExp=3; IntAct=EBI-79149, EBI-79165; Cell membrane; Multi-pass membrane protein (By similarity). Note=Localized at the plasma membrane of neurons, in the soma and punctated peripheral processes (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Asic2a; IsoId=Q16515-1; Sequence=Displayed; Name=2; Synonyms=Asic2b, MDEG2; IsoId=Q16515-2; Sequence=VSP_015590, VSP_015591; Note=No experimental confirmation available; Brain and spinal cord. Isoform 1 is also detected in testis, liver, colon and ovary. Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Regulated by Zn(2+). Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC2 subfamily. regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback ion channel activity cation channel activity sodium channel activity protein binding plasma membrane integral component of plasma membrane ion transport cation transport sodium ion transport chemical synaptic transmission central nervous system development peripheral nervous system development phototransduction sensory perception of sound response to mechanical stimulus response to acidic pH ligand-gated sodium channel activity monovalent inorganic cation transport membrane integral component of membrane regulation of vasoconstriction ion gated channel activity ion transmembrane transport regulation of ion transmembrane transport protein localization to synapse sodium ion transmembrane transport regulation of membrane potential neuron projection neuronal cell body negative regulation of apoptotic process dendritic spine synapse sensory perception of sour taste detection of mechanical stimulus involved in sensory perception positive regulation of synapse assembly cation transmembrane transport  uc002hht.1 uc002hht.2 uc002hht.3 uc002hht.4 uc002hht.5 
ENST00000225831.4 CCL2 ENST00000225831.4 Homo sapiens C-C motif chemokine ligand 2 (CCL2), mRNA. (from RefSeq NM_002982) B2R4V3 CCL2_HUMAN ENST00000225831.1 ENST00000225831.2 ENST00000225831.3 MCP1 NM_002982 P13500 Q9UDF3 SCYA2 uc002hhy.1 uc002hhy.2 uc002hhy.3 uc002hhy.4 This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.15518.1, SRR5189652.174085.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225831.4/ ENSP00000225831.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic factor that attracts monocytes and basophils but not neutrophils or eosinophils. Augments monocyte anti-tumor activity. Has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis or atherosclerosis. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. Monomer or homodimer; in equilibrium. Binds to CCR2 and CCR4. Is tethered on endothelial cells by glycosaminoglycan (GAG) side chains of proteoglycans. Secreted. Processing at the N-terminus can regulate receptor and target cell selectivity. Deletion of the N-terminal residue converts it from an activator of basophil to an eosinophil chemoattractant. Genetic variations in CCL2 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL2 entry; URL="http://en.wikipedia.org/wiki/CCL2"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/scya2/"; MAPK cascade angiogenesis monocyte chemotaxis protein kinase activity receptor binding cytokine activity protein binding extracellular region extracellular space cell protein phosphorylation chemotaxis inflammatory response immune response humoral immune response cytoskeleton organization cell adhesion signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger JAK-STAT cascade chemokine activity regulation of cell shape response to bacterium animal organ morphogenesis viral genome replication cytokine-mediated signaling pathway sensory perception of pain cellular homeostasis neutrophil chemotaxis lipopolysaccharide-mediated signaling pathway CCR2 chemokine receptor binding negative regulation of glial cell apoptotic process helper T cell extravasation PERK-mediated unfolded protein response protein kinase B signaling negative regulation of neuron apoptotic process positive regulation of GTPase activity astrocyte cell migration cellular response to fibroblast growth factor stimulus CCR chemokine receptor binding eosinophil chemotaxis macrophage chemotaxis lymphocyte chemotaxis positive regulation of T cell activation positive regulation of nitric-oxide synthase biosynthetic process positive regulation of synaptic transmission, glutamatergic chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to lipopolysaccharide cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to organic cyclic compound positive regulation of calcium ion import positive regulation of NMDA glutamate receptor activity negative regulation of vascular endothelial cell proliferation negative regulation of G1/S transition of mitotic cell cycle positive regulation of endothelial cell apoptotic process positive regulation of apoptotic cell clearance negative regulation of natural killer cell chemotaxis  uc002hhy.1 uc002hhy.2 uc002hhy.3 uc002hhy.4 
ENST00000225842.4 CCL1 ENST00000225842.4 Homo sapiens C-C motif chemokine ligand 1 (CCL1), mRNA. (from RefSeq NM_002981) B2R5G9 CCL1_HUMAN ENST00000225842.1 ENST00000225842.2 ENST00000225842.3 NM_002981 P22362 Q2M309 SCYA1 uc002hid.1 uc002hid.2 uc002hid.3 uc002hid.4 This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA620119.1, BX093610.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225842.4/ ENSP00000225842.3 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8. Monomer. Secreted. By phorbol myristate acetate (PMA). Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL1 entry; URL="http://en.wikipedia.org/wiki/CCL1"; monocyte chemotaxis cytokine activity extracellular region extracellular space cell cellular calcium ion homeostasis chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration chemokine activity viral process neutrophil chemotaxis killing of cells of other organism positive regulation of GTPase activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis positive regulation of inflammatory response chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of monocyte chemotaxis positive regulation of interleukin-17 secretion  uc002hid.1 uc002hid.2 uc002hid.3 uc002hid.4 
ENST00000225844.7 CCL13 ENST00000225844.7 Homo sapiens C-C motif chemokine ligand 13 (CCL13), mRNA. (from RefSeq NM_005408) CCL13_HUMAN ENST00000225844.1 ENST00000225844.2 ENST00000225844.3 ENST00000225844.4 ENST00000225844.5 ENST00000225844.6 MCP4 NCC1 NM_005408 O95689 Q6ICQ6 Q99616 SCYA13 uc002hic.1 uc002hic.2 uc002hic.3 uc002hic.4 This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ001634.1, U59808.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225844.7/ ENSP00000225844.2 Protein has antimicrobial activity :: PMID: 12949249 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic factor that attracts monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. Signals through CCR2B and CCR3 receptors. Plays a role in the accumulation of leukocytes at both sides of allergic and non-allergic inflammation. May be involved in the recruitment of monocytes into the arterial wall during the disease process of atherosclerosis. May play a role in the monocyte attraction in tissues chronically exposed to exogenous pathogens. Secreted. Widely expressed. Found in small intestine, thymus, colon, lung, trachea, stomach and lymph node. Low levels seen in the pulmonary artery smooth muscle cells. By IL1/interleukin-1 and TNF. One major form (form long), and two minor forms (short chain and medium chain) are produced by differential signal peptide cleavage. The medium chain is about 30-fold less active than the long chain. Mass=9314; Mass_error=30; Method=MALDI; Range=17-98; Source=PubMed:8642349; Mass=8760; Mass_error=30; Method=MALDI; Range=22-98; Source=PubMed:8642349; Mass=8575; Mass_error=30; Method=MALDI; Range=24-98; Source=PubMed:8642349; This protein can bind heparin. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL13 entry; URL="http://en.wikipedia.org/wiki/CCL13"; monocyte chemotaxis receptor binding cytokine activity protein binding extracellular region extracellular space cell cellular calcium ion homeostasis chemotaxis inflammatory response immune response cytoskeleton organization signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity regulation of cell shape neutrophil chemotaxis killing of cells of other organism positive regulation of GTPase activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor  uc002hic.1 uc002hic.2 uc002hic.3 uc002hic.4 
ENST00000225873.9 PEX12 ENST00000225873.9 Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. (from RefSeq NM_000286) B2R6M2 ENST00000225873.1 ENST00000225873.2 ENST00000225873.3 ENST00000225873.4 ENST00000225873.5 ENST00000225873.6 ENST00000225873.7 ENST00000225873.8 NM_000286 O00623 PAF3 PEX12_HUMAN uc002hjp.1 uc002hjp.2 uc002hjp.3 uc002hjp.4 uc002hjp.5 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.856607.1, SRR1660805.145609.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225873.9/ ENSP00000225873.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for protein import into peroxisomes. Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain. P40855:PEX19; NbExp=2; IntAct=EBI-594836, EBI-594747; P50542:PEX5; NbExp=3; IntAct=EBI-594836, EBI-597835; Peroxisome membrane; Multi-pass membrane protein. Defects in PEX12 are the cause of peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:601758]. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX12 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Belongs to the pex2/pex10/pex12 family. Contains 1 RING-type zinc finger. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX12"; Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX12"; ubiquitin-protein transferase activity protein binding peroxisome peroxisomal membrane integral component of peroxisomal membrane protein monoubiquitination protein targeting to peroxisome peroxisome organization protein C-terminus binding zinc ion binding membrane integral component of membrane protein import into peroxisome matrix protein ubiquitination metal ion binding peroxisomal importomer complex  uc002hjp.1 uc002hjp.2 uc002hjp.3 uc002hjp.4 uc002hjp.5 
ENST00000225899.4 KRT32 ENST00000225899.4 Homo sapiens keratin 32 (KRT32), mRNA. (from RefSeq NM_002278) ENST00000225899.1 ENST00000225899.2 ENST00000225899.3 HHA2 HKA2 K1H2_HUMAN KRTHA2 NM_002278 Q14532 uc002hwr.1 uc002hwr.2 uc002hwr.3 uc002hwr.4 uc002hwr.5 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: X81419.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Restricted to the hair cuticle. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. Sequence=CAA57179.1; Type=Erroneous initiation; Note=Translation N-terminally extended; structural molecule activity cytosol intermediate filament epidermis development keratinization extracellular exosome cornification  uc002hwr.1 uc002hwr.2 uc002hwr.3 uc002hwr.4 uc002hwr.5 
ENST00000225916.10 KAT2A ENST00000225916.10 Homo sapiens lysine acetyltransferase 2A (KAT2A), transcript variant 1, mRNA. (from RefSeq NM_021078) ENST00000225916.1 ENST00000225916.2 ENST00000225916.3 ENST00000225916.4 ENST00000225916.5 ENST00000225916.6 ENST00000225916.7 ENST00000225916.8 ENST00000225916.9 GCN5 GCN5L2 HGCN5 KAT2A_HUMAN NM_021078 Q8N1A2 Q92830 Q9UCW1 uc002hyx.1 uc002hyx.2 uc002hyx.3 uc002hyx.4 KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039907.1, BC032743.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225916.10/ ENSP00000225916.5 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Acetylation of histones gives a specific tag for epigenetic transcription activation. Has significant histone acetyltransferase activity with core histones, but not with nucleosome core particles. In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Acetyl-CoA + [histone] = CoA + acetyl- [histone]. Interacts with EP300, CREBBP and ADA2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TAF3, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, KAT2A/GCN5L2, TAF10 and TRRAP. Interacts with TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, KAT2A, SUPT7L, TAF5L, TAF6L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with and acetylates HIV-1 Tat. Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with CSRP2BP, MBIP and WDR5. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=GCN5-L; IsoId=Q92830-1; Sequence=Displayed; Name=2; Synonyms=GCN5-S; IsoId=Q92830-2; Sequence=VSP_000556; Expressed in all tissues tested, with most abundant expression in ovary. Belongs to the GCN5 family. Contains 1 bromo domain. Contains 1 N-acetyltransferase domain. histone acetyltransferase complex nuclear chromatin in utero embryonic development somitogenesis cytokine production neural tube closure chromatin binding transcription coactivator activity histone acetyltransferase activity protein binding extracellular space nucleus nucleoplasm Ada2/Gcn5/Ada3 transcription activator complex chromosome cytoplasm centrosome microtubule organizing center cytoskeleton chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter nervous system development heart development long-term memory N-acetyltransferase activity transcription factor binding cell proliferation H3 histone acetyltransferase activity response to organic cyclic compound viral process acetyltransferase activity histone acetylation histone deubiquitination protein deubiquitination transferase activity transferase activity, transferring acyl groups internal peptidyl-lysine acetylation protein phosphatase binding telencephalon development metencephalon development midbrain development STAGA complex positive regulation of cell projection organization regulation of protein stability response to nutrient levels transcription factor TFTC complex positive regulation of histone acetylation multicellular organism growth positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter histone deacetylase binding histone H3 acetylation histone H4-K12 acetylation histone acetyltransferase activity (H4-K12 specific) histone H3-K14 acetylation regulation of regulatory T cell differentiation positive regulation of gene expression, epigenetic positive regulation of transcription from RNA polymerase II promoter negative regulation of centriole replication regulation of synaptic plasticity intracellular distribution of mitochondria regulation of T cell activation limb development peptide-lysine-N-acetyltransferase activity cellular response to tumor necrosis factor alpha-tubulin acetylation mitotic spindle cellular response to nerve growth factor stimulus positive regulation of cardiac muscle cell differentiation oxoglutarate dehydrogenase complex  uc002hyx.1 uc002hyx.2 uc002hyx.3 uc002hyx.4 
ENST00000225927.7 NAGLU ENST00000225927.7 Homo sapiens N-acetyl-alpha-glucosaminidase (NAGLU), mRNA. (from RefSeq NM_000263) ANAG_HUMAN ENST00000225927.1 ENST00000225927.2 ENST00000225927.3 ENST00000225927.4 ENST00000225927.5 ENST00000225927.6 NM_000263 P54802 UFHSD1 uc002hzv.1 uc002hzv.2 uc002hzv.3 uc002hzv.4 uc002hzv.5 This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HM005331.1, U40846.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225927.7/ ENSP00000225927.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the degradation of heparan sulfate. Hydrolysis of terminal non-reducing N-acetyl- D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Monomer and homodimer. Lysosome. Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney. Defects in NAGLU are the cause of mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]; also known as Sanfilippo syndrome B. MPS3B is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino acid change from Arg to His. The right amino acid change is from His to Arg. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGLU"; alpha-N-acetylglucosaminidase activity lysosome glycosaminoglycan catabolic process lysosome organization nervous system development metabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds cerebellar Purkinje cell layer development middle ear morphogenesis lysosomal lumen locomotor rhythm retinal rod cell development inner ear receptor cell development extracellular exosome  uc002hzv.1 uc002hzv.2 uc002hzv.3 uc002hzv.4 uc002hzv.5 
ENST00000225929.5 HSD17B1 ENST00000225929.5 Homo sapiens hydroxysteroid 17-beta dehydrogenase 1 (HSD17B1), transcript variant 2, mRNA. (from RefSeq NM_001330219) A0A0A0MQS7 ENST00000225929.1 ENST00000225929.2 ENST00000225929.3 ENST00000225929.4 NM_001330219 uc060fjv.1 This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].  uc060fjv.1 
ENST00000225941.6 ABI3 ENST00000225941.6 Homo sapiens ABI family member 3 (ABI3), transcript variant 1, mRNA. (from RefSeq NM_016428) ABI3_HUMAN C9IZN8 ENST00000225941.1 ENST00000225941.2 ENST00000225941.3 ENST00000225941.4 ENST00000225941.5 NESH NM_016428 Q9H0P6 Q9P2A4 uc002iop.1 uc002iop.2 This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. May inhibit tumor metastasis (By similarity). In vitro, reduces cell motility. May interact with PAK1 and PAK2. Probably interacts with TARSH. O15372:EIF3H; NbExp=3; IntAct=EBI-742038, EBI-709735; Cytoplasm. Note=Colocalizes with PAK2 at leading edge of cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2A4-1; Sequence=Displayed; Name=2; IsoId=Q9P2A4-2; Sequence=VSP_041467; Expressed in heart, lung, liver, pancreas, kidney, placenta and at low levels in brain and skeletal muscle. Belongs to the ABI family. Contains 1 SH3 domain. protein binding cytoplasm membrane SH3 domain binding lamellipodium regulation of cell migration identical protein binding peptidyl-tyrosine phosphorylation  uc002iop.1 uc002iop.2 
ENST00000225964.10 COL1A1 ENST00000225964.10 Homo sapiens collagen type I alpha 1 chain (COL1A1), mRNA. (from RefSeq NM_000088) CO1A1_HUMAN ENST00000225964.1 ENST00000225964.2 ENST00000225964.3 ENST00000225964.4 ENST00000225964.5 ENST00000225964.6 ENST00000225964.7 ENST00000225964.8 ENST00000225964.9 NM_000088 O76045 P02452 P78441 Q13896 Q13902 Q13903 Q14037 Q14992 Q15176 Q15201 Q16050 Q59F64 Q7KZ30 Q7KZ34 Q8IVI5 Q8N473 Q9UML6 Q9UMM7 uc002iqm.1 uc002iqm.2 uc002iqm.3 uc002iqm.4 uc002iqm.5 This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Z74615.1, AB209597.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000225964.10/ ENSP00000225964.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Type I collagen is a member of group I collagen (fibrillar forming collagen). Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2. Secreted, extracellular space, extracellular matrix (By similarity). Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity). Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains. O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group. Defects in COL1A1 are the cause of Caffey disease (CAFFD) [MIM:114000]; also known as infantile cortical hyperostosis. Caffey disease is characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. Defects in COL1A1 are a cause of Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]; also known as Ehlers-Danlos syndrome gravis. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. Defects in COL1A1 are the cause of Ehlers-Danlos syndrome type 7A (EDS7A) [MIM:130060]; also known as autosomal dominant Ehlers-Danlos syndrome type VII. EDS is a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS7A is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Defects in COL1A1 are a cause of osteogenesis imperfecta type 1 (OI1) [MIM:166200]. A dominantly inherited connective tissue disorder characterized by bone fragility and blue sclerae. Osteogenesis imperfecta type 1 is non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta. Defects in COL1A1 are a cause of osteogenesis imperfecta type 2 (OI2) [MIM:166210]; also known as osteogenesis imperfecta congenita. A connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. Defects in COL1A1 are a cause of osteogenesis imperfecta type 3 (OI3) [MIM:259420]. A connective tissue disorder characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta. Defects in COL1A1 are a cause of osteogenesis imperfecta type 4 (OI4) [MIM:166220]; also known as osteogenesis imperfecta with normal sclerae. A connective tissue disorder characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. Genetic variations in COL1A1 are a cause of susceptibility to osteoporosis (OSTEOP) [MIM:166710]; also known as involutional or senile osteoporosis or postmenopausal osteoporosis. Osteoporosis is characterized by reduced bone mass, disruption of bone microarchitecture without alteration in the composition of bone. Osteoporotic bones are more at risk of fracture. Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF. Belongs to the fibrillar collagen family. Contains 1 fibrillar collagen NC1 domain. Contains 1 VWFC domain. Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=Osteogenesis imperfecta variant database; Note=Collagen type I alpha 1 (COL1A1); URL="http://oi.gene.le.ac.uk/home.php?select_db=COL1A1"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/COL1A1ID186.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL1A1"; Name=Wikipedia; Note=Type-I collagen entry; URL="http://en.wikipedia.org/wiki/Type-I_collagen"; skeletal system development ossification blood vessel development osteoblast differentiation intramembranous ossification endochondral ossification protease binding extracellular matrix structural constituent protein binding extracellular region collagen trimer collagen type I trimer extracellular space cytoplasm endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus response to nutrient blood coagulation visual perception sensory perception of sound response to mechanical stimulus positive regulation of epithelial to mesenchymal transition negative regulation of cell-substrate adhesion protein transport extracellular matrix structural constituent conferring tensile strength secretory granule platelet activation extracellular matrix organization collagen fibril organization positive regulation of cell migration extracellular matrix response to nutrient levels response to corticosteroid response to estradiol collagen biosynthetic process protein localization to nucleus tooth mineralization collagen-activated tyrosine kinase receptor signaling pathway wound healing response to drug response to hydrogen peroxide identical protein binding response to peptide hormone skin development skin morphogenesis cellular response to fibroblast growth factor stimulus tooth eruption positive regulation of transcription, DNA-templated metal ion binding platelet-derived growth factor binding response to steroid hormone skeletal system morphogenesis embryonic skeletal system development regulation of immune response leukocyte migration response to cAMP response to hyperoxia face morphogenesis bone trabecula formation cartilage development involved in endochondral bone morphogenesis cellular response to amino acid stimulus cellular response to mechanical stimulus cellular response to retinoic acid cellular response to vitamin E cellular response to tumor necrosis factor cellular response to epidermal growth factor stimulus cellular response to transforming growth factor beta stimulus positive regulation of canonical Wnt signaling pathway response to fluoride cellular response to fluoride  uc002iqm.1 uc002iqm.2 uc002iqm.3 uc002iqm.4 uc002iqm.5 
ENST00000225969.9 MRPL27 ENST00000225969.9 Homo sapiens mitochondrial ribosomal protein L27 (MRPL27), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016504) B2RE14 ENST00000225969.1 ENST00000225969.2 ENST00000225969.3 ENST00000225969.4 ENST00000225969.5 ENST00000225969.6 ENST00000225969.7 ENST00000225969.8 HSPC250 NM_016504 Q9P0M9 RM27_HUMAN uc002iqq.1 uc002iqq.2 uc002iqq.3 uc002iqq.4 uc002iqq.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF151084.1, SRR1163658.334646.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153932, SAMN03267769 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000225969.9/ ENSP00000225969.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mitochondrion. Belongs to the ribosomal protein L27P family. RNA binding structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial large ribosomal subunit ribosome translation mitochondrial translational elongation mitochondrial translational termination  uc002iqq.1 uc002iqq.2 uc002iqq.3 uc002iqq.4 uc002iqq.5 
ENST00000225972.8 LRRC59 ENST00000225972.8 Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA. (from RefSeq NM_018509) D3DTX8 ENST00000225972.1 ENST00000225972.2 ENST00000225972.3 ENST00000225972.4 ENST00000225972.5 ENST00000225972.6 ENST00000225972.7 LRC59_HUMAN NM_018509 PRO1855 Q96AG4 Q9P189 uc002iqt.1 uc002iqt.2 uc002iqt.3 uc002iqt.4 uc002iqt.5 Interacts with SGOL1. Microsome membrane; Single-pass type II membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type II membrane protein (Potential). Contains 5 LRR (leucine-rich) repeats. Sequence=AAF69611.1; Type=Erroneous initiation; RNA binding nucleus nuclear envelope endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane organelle membrane mitochondrial nucleoid intracellular membrane-bounded organelle cadherin binding  uc002iqt.1 uc002iqt.2 uc002iqt.3 uc002iqt.4 uc002iqt.5 
ENST00000225983.10 HDAC5 ENST00000225983.10 Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA. (from RefSeq NM_001015053) C9JFV9 ENST00000225983.1 ENST00000225983.2 ENST00000225983.3 ENST00000225983.4 ENST00000225983.5 ENST00000225983.6 ENST00000225983.7 ENST00000225983.8 ENST00000225983.9 HDAC5_HUMAN KIAA0600 NM_001015053 O60340 O60528 Q96DY4 Q9UQL6 uc002iff.1 uc002iff.2 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Hydrolysis of an N(6)-acetyl-lysine residue of a histone to yield a deacetylated histone. Interacts with AHRR (By similarity). Interacts with BAHD1, BCOR, HDAC7, HDAC9, CTBP1, MEF2C, NCOR2, NRIP1, PHB2 and a 14-3-3 chaperone protein. Interacts with KDM5B. Interacts with MYOCD (By similarity). Interacts with GRK5. Interacts with DDIT3/CHOP. Q9HCU9:BRMS1; NbExp=2; IntAct=EBI-715576, EBI-714781; Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. In muscle cells, it shuttles into the cytoplasm during myocyte differentiation. The export to cytoplasm depends on the interaction with a 14-3-3 chaperone protein and is due to its phosphorylation at Ser-259 and Ser-498 by AMPK, CaMK1 and SIK1. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UQL6-1; Sequence=Displayed; Name=2; IsoId=Q9UQL6-2; Sequence=VSP_002081; Note=No experimental confirmation available; Name=3; IsoId=Q9UQL6-3; Sequence=VSP_039180; Ubiquitous. The nuclear export sequence mediates the shuttling between the nucleus and the cytoplasm (By similarity). Phosphorylated by AMPK, CaMK1, SIK1 and PRKD1 at Ser-259 and Ser-498. The phosphorylation is required for the export to the cytoplasm and inhibition. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import. Phosphorylated by GRK5, leading to nuclear export of HDAC5 and allowing MEF2-mediated transcription (By similarity). Ubiquitinated. Polyubiquitination however does not lead to its degradation. Belongs to the histone deacetylase family. HD type 2 subfamily. Sequence=AAC18040.1; Type=Frameshift; Positions=1085; Sequence=BAA25526.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor binding chromatin binding histone deacetylase activity protein kinase C binding protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol chromatin organization chromatin remodeling chromatin silencing protein deacetylation inflammatory response transcription factor binding regulation of myotube differentiation negative regulation of myotube differentiation response to activity histone deacetylation nuclear speck hydrolase activity neuron differentiation B cell differentiation NAD-dependent histone deacetylase activity (H3-K14 specific) cellular response to insulin stimulus macromolecular complex protein deacetylase activity regulation of gene expression, epigenetic B cell activation response to cocaine response to drug histone deacetylase binding regulation of protein binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of sequence-specific DNA binding transcription factor activity repressing transcription factor binding histone H3 deacetylation cellular response to lipopolysaccharide negative regulation of cell migration involved in sprouting angiogenesis transcription regulatory region DNA binding regulation of histone H3-K9 acetylation  uc002iff.1 uc002iff.2 
ENST00000225992.8 PPY ENST00000225992.8 Homo sapiens pancreatic polypeptide (PPY), transcript variant 1, mRNA. (from RefSeq NM_002722) ENST00000225992.1 ENST00000225992.2 ENST00000225992.3 ENST00000225992.4 ENST00000225992.5 ENST00000225992.6 ENST00000225992.7 NM_002722 P01298 PAHO_HUMAN PNP uc002iep.1 uc002iep.2 uc002iep.3 uc002iep.4 uc002iep.5 This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions. The physiological role for the icosapeptide has not yet been elucidated. Secreted. Obinepitide is under clinical trial by 7TM Pharma to be used for the treatment of obesity. Obinepitide is derived from pancreatic hormone by having Gln-63. Belongs to the NPY family. G-protein coupled receptor binding hormone activity neuropeptide hormone activity extracellular region extracellular space cytoplasm G-protein coupled receptor signaling pathway neuropeptide signaling pathway protein secretion  uc002iep.1 uc002iep.2 uc002iep.3 uc002iep.4 uc002iep.5 
ENST00000226004.8 DUSP3 ENST00000226004.8 Homo sapiens dual specificity phosphatase 3 (DUSP3), mRNA. (from RefSeq NM_004090) D3DX45 DUS3_HUMAN ENST00000226004.1 ENST00000226004.2 ENST00000226004.3 ENST00000226004.4 ENST00000226004.5 ENST00000226004.6 ENST00000226004.7 NM_004090 P51452 Q5U0J1 VHR uc002ied.1 uc002ied.2 uc002ied.3 uc002ied.4 uc002ied.5 uc002ied.6 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.105724.1, SRR1803611.73793.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226004.8/ ENSP00000226004.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Shows activity both for tyrosine-protein phosphate and serine-protein phosphate, but displays a strong preference toward phosphotyrosines. Specifically dephosphorylates and inactivates ERK1 and ERK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Interacts with VRK3, which seems to activate it's phosphatase activity (By similarity). Nucleus. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 tyrosine-protein phosphatase domain. inactivation of MAPK activity immunological synapse phosphoprotein phosphatase activity protein tyrosine phosphatase activity nucleus nucleoplasm cytosol protein dephosphorylation cytoskeletal protein binding protein tyrosine/serine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity protein kinase binding negative regulation of cell migration receptor tyrosine kinase binding MAP kinase phosphatase activity peptidyl-tyrosine dephosphorylation negative regulation of epidermal growth factor receptor signaling pathway negative regulation of MAPK cascade positive regulation of mitotic cell cycle negative regulation of JNK cascade negative regulation of T cell receptor signaling pathway negative regulation of T cell activation negative regulation of chemotaxis regulation of focal adhesion assembly negative regulation of ERK1 and ERK2 cascade cellular response to epidermal growth factor stimulus peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity protein tyrosine kinase binding  uc002ied.1 uc002ied.2 uc002ied.3 uc002ied.4 uc002ied.5 uc002ied.6 
ENST00000226021.5 CACNG1 ENST00000226021.5 Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 1 (CACNG1), mRNA. (from RefSeq NM_000727) B2R9N3 CACNLG CCG1_HUMAN ENST00000226021.1 ENST00000226021.2 ENST00000226021.3 ENST00000226021.4 NM_000727 Q06432 Q14D59 uc002jfu.1 uc002jfu.2 uc002jfu.3 uc002jfu.4 uc002jfu.5 Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.187776.1, L07738.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153427, SAMEA2158800 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226021.5/ ENSP00000226021.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is a subunit of the dihydropyridine (DHP) sensitive calcium channel. Plays a role in excitation-contraction coupling. The skeletal muscle DHP-sensitive Ca(2+) channel may function only as a multiple subunit complex. The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Membrane; Multi-pass membrane protein. Skeletal muscle. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel regulator activity calcium channel activity protein binding plasma membrane integral component of plasma membrane voltage-gated calcium channel complex ion transport calcium ion transport membrane integral component of membrane T-tubule regulation of ion transmembrane transport sarcolemma cardiac conduction sarcoplasmic reticulum calcium ion transport calcium ion transmembrane transport regulation of calcium ion transmembrane transport via high voltage-gated calcium channel L-type voltage-gated calcium channel complex  uc002jfu.1 uc002jfu.2 uc002jfu.3 uc002jfu.4 uc002jfu.5 
ENST00000226067.10 HLF ENST00000226067.10 Homo sapiens HLF transcription factor, PAR bZIP family member (HLF), transcript variant 1, mRNA. (from RefSeq NM_002126) ENST00000226067.1 ENST00000226067.2 ENST00000226067.3 ENST00000226067.4 ENST00000226067.5 ENST00000226067.6 ENST00000226067.7 ENST00000226067.8 ENST00000226067.9 HLF_HUMAN NM_002126 Q16534 uc002iug.1 uc002iug.2 uc002iug.3 This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.43262.1, SRR1660809.156869.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226067.10/ ENSP00000226067.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Binds DNA specifically as homodimer or heterodimer with other PAR factors. Nucleus (Probable). Highly expressed in liver; lower levels in lung and kidney. Accumulates according to a robust circadian rhythm (By similarity). Note=A chromosomal aberration involving HLF is a cause of pre-B-cell acute lymphoblastic leukemia (B-ALL). Translocation t(17;19)(q22;p13.3) with TCF3. Belongs to the bZIP family. PAR subfamily. Contains 1 bZIP (basic-leucine zipper) domain. Sequence=AAA58445.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HLFID47.html"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter multicellular organism development skeletal muscle cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter rhythmic process  uc002iug.1 uc002iug.2 uc002iug.3 
ENST00000226091.3 EFNB3 ENST00000226091.3 Homo sapiens ephrin B3 (EFNB3), mRNA. (from RefSeq NM_001406) B2RBW2 D3DTQ6 EFNB3_HUMAN ENST00000226091.1 ENST00000226091.2 EPLG8 LERK8 NM_001406 O00680 Q15768 Q8TBH7 Q92875 uc002gis.1 uc002gis.2 uc002gis.3 uc002gis.4 uc002gis.5 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC042944.2, U66406.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226091.3/ ENSP00000226091.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. May play a pivotal role in forebrain function. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). Interacts with GRIP1 and GRIP2. Binds to Nipah virus G protein. Membrane; Single-pass type I membrane protein. Highly expressed in brain; expressed in embryonic floor plate, roof plate and hindbrain segments. Belongs to the ephrin family. Contains 1 ephrin RBD (ephrin receptor-binding) domain. virus receptor activity transmembrane-ephrin receptor activity protein binding plasma membrane integral component of plasma membrane cell-cell signaling multicellular organism development nervous system development axon guidance adult walking behavior membrane integral component of membrane viral process axon choice point recognition cell differentiation T cell costimulation viral entry into host cell ephrin receptor binding ephrin receptor signaling pathway negative regulation of axonogenesis glutamatergic synapse integral component of presynaptic membrane integral component of postsynaptic density membrane trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission  uc002gis.1 uc002gis.2 uc002gis.3 uc002gis.4 uc002gis.5 
ENST00000226094.9 FAM20A ENST00000226094.9 Homo sapiens FAM20A golgi associated secretory pathway pseudokinase (FAM20A), transcript variant 2, non-coding RNA. (from RefSeq NR_027751) ENST00000226094.1 ENST00000226094.2 ENST00000226094.3 ENST00000226094.4 ENST00000226094.5 ENST00000226094.6 ENST00000226094.7 ENST00000226094.8 NR_027751 uc060jfj.1 This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011].  uc060jfj.1 
ENST00000226105.11 RANGRF ENST00000226105.11 Homo sapiens RAN guanine nucleotide release factor (RANGRF), transcript variant 1, mRNA. (from RefSeq NM_016492) D3DTR6 ENST00000226105.1 ENST00000226105.10 ENST00000226105.2 ENST00000226105.3 ENST00000226105.4 ENST00000226105.5 ENST00000226105.6 ENST00000226105.7 ENST00000226105.8 ENST00000226105.9 HSPC165 HSPC236 MDS5 MOG1 MOG1_HUMAN NM_016492 Q68DI3 Q9BR68 Q9HD47 Q9HD48 Q9NRU9 Q9P001 Q9P0P2 RANGNRF uc002gkv.1 uc002gkv.2 uc002gkv.3 uc002gkv.4 uc002gkv.5 This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]. May regulate the intracellular trafficking of RAN. In cardiac cells seems to regulate the cell surface localization of SCN5A. Monomer (By similarity). Interacts with RAN, RAN-GTP and RAN-GDP. Forms a complex with RAN-GTP and RANBP1 (By similarity). Interacts with the cytoplasmic loop 2 of SCN5A. Nucleus. Cytoplasm. Note=Shuttles between the nucleus and cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=MOG1a; IsoId=Q9HD47-1; Sequence=Displayed; Name=2; Synonyms=MOG1b; IsoId=Q9HD47-2; Sequence=VSP_033060; Name=3; IsoId=Q9HD47-3; Sequence=VSP_033059, VSP_033061; Name=4; IsoId=Q9HD47-4; Sequence=VSP_033057, VSP_033058; Isoform 1 and isoform 2 are ubiquitously expressed. Belongs to the MOG1 family. Sequence=AAF29129.1; Type=Frameshift; Positions=62, 93; Sequence=AAF87316.1; Type=Frameshift; Positions=62; regulation of heart rate regulation of membrane depolarization guanyl-nucleotide exchange factor activity Ran guanyl-nucleotide exchange factor activity nucleus nucleoplasm cytoplasm rough endoplasmic reticulum cytosol plasma membrane caveola ER to Golgi vesicle-mediated transport Ran GTPase binding intercalated disc protein transport membrane sodium channel regulator activity protein exit from endoplasmic reticulum regulation of membrane potential ion channel binding perinuclear region of cytoplasm regulation of microtubule nucleation by Ran protein signal transduction regulation of bundle of His cell action potential regulation of cardiac muscle cell action potential involved in regulation of contraction regulation of membrane depolarization during cardiac muscle cell action potential regulation of sodium ion transmembrane transport positive regulation of protein localization to plasma membrane positive regulation of protein localization to cell surface regulation of sodium ion transmembrane transporter activity  uc002gkv.1 uc002gkv.2 uc002gkv.3 uc002gkv.4 uc002gkv.5 
ENST00000226193.6 RCVRN ENST00000226193.6 Homo sapiens recoverin (RCVRN), mRNA. (from RefSeq NM_002903) ENST00000226193.1 ENST00000226193.2 ENST00000226193.3 ENST00000226193.4 ENST00000226193.5 NM_002903 P35243 RCV1 RECO_HUMAN uc002gme.1 uc002gme.2 uc002gme.3 This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL712005.1, S43855.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226193.6/ ENSP00000226193.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse. Retina and pineal gland. Binds two calcium ions; one with high affinity, the other with low affinity. Belongs to the recoverin family. Contains 4 EF-hand domains. calcium ion binding signal transduction visual perception phototransduction calcium sensitive guanylate cyclase activator activity dendrite positive regulation of guanylate cyclase activity metal ion binding response to stimulus regulation of calcium ion transport  uc002gme.1 uc002gme.2 uc002gme.3 
ENST00000226207.6 MYH1 ENST00000226207.6 Homo sapiens myosin heavy chain 1 (MYH1), mRNA. (from RefSeq NM_005963) ENST00000226207.1 ENST00000226207.2 ENST00000226207.3 ENST00000226207.4 ENST00000226207.5 MYH1_HUMAN NM_005963 P12882 Q14CA4 Q9Y622 uc002gmo.1 uc002gmo.2 uc002gmo.3 uc002gmo.4 uc002gmo.5 Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: AF111785.1, EU794637.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226207.6/ ENSP00000226207.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Muscle contraction. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Contains 1 IQ domain. Contains 1 myosin head-like domain. Represents a conventional myosin. This protein should not be confused with the unconventional myosin-1 (MYO1). nucleotide binding motor activity actin binding protein binding calmodulin binding ATP binding cytoplasm muscle myosin complex muscle contraction intercalated disc myosin complex myofibril A band myosin filament cytoplasmic ribonucleoprotein granule actin filament binding  uc002gmo.1 uc002gmo.2 uc002gmo.3 uc002gmo.4 uc002gmo.5 
ENST00000226218.9 VTN ENST00000226218.9 Homo sapiens vitronectin (VTN), mRNA. (from RefSeq NM_000638) B2R7G0 ENST00000226218.1 ENST00000226218.2 ENST00000226218.3 ENST00000226218.4 ENST00000226218.5 ENST00000226218.6 ENST00000226218.7 ENST00000226218.8 NM_000638 P01141 P04004 Q9BSH7 VTNC_HUMAN uc002hbc.1 uc002hbc.2 uc002hbc.3 uc002hbc.4 uc002hbc.5 The protein encoded by this gene is a member of the pexin family. It is found in serum and tissues and promotes cell adhesion and spreading, inhibits the membrane-damaging effect of the terminal cytolytic complement pathway, and binds to several serpin serine protease inhibitors. It is a secreted protein and exists in either a single chain form or a clipped, two chain form held together by a disulfide bond. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.110316.1, SRR5189664.122025.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226218.9/ ENSP00000226218.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway. Somatomedin-B is a growth hormone-dependent serum factor with protease-inhibiting activity. Exists in two forms: a single chain 75 kDa form (V75) and a clipped form composed of two chains (65 kDa and 10 kDa) (V65+V10) which are held together by a disulfide bond. Interacts with SERPINE1/PAI1 and insulin. P05121:SERPINE1; NbExp=1; IntAct=EBI-1036653, EBI-953978; Secreted, extracellular space. Plasma. The SMB domain mediates interaction with SERPINE1/PAI1. The heparin-binding domain mediates interaction with insulin. Sulfated on 2 tyrosine residues. N- and O-glycosylated (By similarity). Phosphorylation on Thr-69 and Thr-76 favors cell adhesion and spreading. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Phosphorylation sites are present in the extracellular medium. Contains 4 hemopexin-like domains. Contains 1 SMB (somatomedin-B) domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/vtn/"; scavenger receptor activity integrin binding extracellular matrix structural constituent protein binding collagen binding extracellular region basement membrane extracellular space cytoplasm endoplasmic reticulum Golgi lumen endocytosis immune response cell adhesion cell-matrix adhesion heparin binding cell proliferation positive regulation of cell-substrate adhesion negative regulation of endopeptidase activity positive regulation of smooth muscle cell migration cell migration negative regulation of blood coagulation extracellular matrix organization polysaccharide binding regulation of complement activation positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular matrix positive regulation of protein binding cell adhesion mediated by integrin endodermal cell differentiation identical protein binding intracellular membrane-bounded organelle rough endoplasmic reticulum lumen positive regulation of receptor-mediated endocytosis oligodendrocyte differentiation positive regulation of peptidyl-tyrosine phosphorylation extracellular matrix binding protein polymerization smooth muscle cell-matrix adhesion extracellular exosome alphav-beta3 integrin-vitronectin complex blood microparticle positive regulation of wound healing liver regeneration  uc002hbc.1 uc002hbc.2 uc002hbc.3 uc002hbc.4 uc002hbc.5 
ENST00000226225.7 TNFAIP1 ENST00000226225.7 Homo sapiens TNF alpha induced protein 1 (TNFAIP1), mRNA. (from RefSeq NM_021137) BACD2_HUMAN BACURD2 EDP1 ENST00000226225.1 ENST00000226225.2 ENST00000226225.3 ENST00000226225.4 ENST00000226225.5 ENST00000226225.6 NM_021137 Q13829 Q5TZQ1 uc002hay.1 uc002hay.2 uc002hay.3 uc002hay.4 uc002hay.5 This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC003694.2, SRR1803611.75799.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226225.7/ ENSP00000226225.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(BACURD2) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA-dependent DNA polymerase delta activity. Protein modification; protein ubiquitination. Component of the BCR(BACURD2) E3 ubiquitin ligase complex, at least composed of CUL3, TNFAIP1/BACURD2 and RBX1. Interacts with RHOA; with a preferrence for RhoA-GDP. Interacts with RHOB. Interacts with PCNA. Interacts with CSNK2B. P62745:RHOB; NbExp=5; IntAct=EBI-2505861, EBI-602647; Cytoplasm. Nucleus. Endosome. Note=Colocalizes with RHOB in endosomes. By TNF, IL1B/interleukin-1 beta and bacterial lipopolysaccharides (LPS). Phosphorylation at Ser-280 by CK2 facilitates the nucleus localization and increases interaction with PCNA. Belongs to the BACURD family. Contains 1 BTB (POZ) domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tnfaip1/"; protein binding nucleus nucleolus cytoplasm endosome DNA replication apoptotic process immune response cell migration protein ubiquitination GTP-Rho binding protein domain specific binding Cul3-RING ubiquitin ligase complex negative regulation of Rho protein signal transduction identical protein binding stress fiber assembly proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of DNA replication protein homooligomerization ubiquitin-protein transferase activity  uc002hay.1 uc002hay.2 uc002hay.3 uc002hay.4 uc002hay.5 
ENST00000226230.8 TMEM97 ENST00000226230.8 Homo sapiens transmembrane protein 97 (TMEM97), mRNA. (from RefSeq NM_014573) B4DS02 ENST00000226230.1 ENST00000226230.2 ENST00000226230.3 ENST00000226230.4 ENST00000226230.5 ENST00000226230.6 ENST00000226230.7 MAC30 NM_014573 Q07823 Q5BJF2 TMM97_HUMAN uc002hat.1 uc002hat.2 uc002hat.3 uc002hat.4 TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.97499.1, SRR5189661.190685.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226230.8/ ENSP00000226230.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plays a role as a regulator of cellular cholesterol homeostasis. Interacts with NPC1. Nucleus membrane. Rough endoplasmic reticulum. Cell membrane. Lysosome. Membrane; Multi-pass membrane protein (Potential). Note=Localized in sterol-depleted cells at cell membrane and in lysosomes. Widely expressed in normal tissues. Expressed in pancreatic, renal, breast, colon, ovarian surface epithelial (OSE) cells and meningioma cancers. Expressed in ovarian cancer; expression is reduced relative to OSE cells. Up-regulated in ovarian surface epithelial (OSE) cells with progesterone. Belongs to the TMEM97 family. Sequence=AAA16188.1; Type=Frameshift; Positions=5; regulation of cell growth protein binding nucleus lysosome endoplasmic reticulum rough endoplasmic reticulum cytosol plasma membrane membrane integral component of membrane rough endoplasmic reticulum membrane nuclear membrane cholesterol homeostasis  uc002hat.1 uc002hat.2 uc002hat.3 uc002hat.4 
ENST00000226247.2 FOXN1 ENST00000226247.2 Homo sapiens forkhead box N1 (FOXN1), transcript variant 2, mRNA. (from RefSeq NM_003593) B2R9Q7 ENST00000226247.1 FOXN1_HUMAN NM_003593 O15352 O15353 RONU WHN uc002hbj.1 uc002hbj.2 uc002hbj.3 uc002hbj.4 Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5' UTR of this gene has been observed. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y11739.1, ERR279844.5172.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## Transcriptional regulator involved in development. Nucleus. Expressed in thymus. Defects in FOXN1 are the cause of T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) [MIM:601705]. A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails. Contains 1 fork-head DNA-binding domain. Name=FOXN1base; Note=FOXN1 mutation db; URL="http://bioinf.uta.fi/FOXN1base/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FOXN1"; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding hair follicle development lymphocyte homeostasis T cell lineage commitment DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter defense response multicellular organism development cell proliferation epidermis development animal organ morphogenesis regulation of gene expression hemopoiesis cell differentiation keratinocyte differentiation positive regulation of epithelial cell differentiation regulation of T cell differentiation in thymus nail development T cell homeostasis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter blood vessel morphogenesis thymus development epithelial cell proliferation positive regulation of hair follicle development lymphoid lineage cell migration into thymus thymus epithelium morphogenesis regulation of positive thymic T cell selection  uc002hbj.1 uc002hbj.2 uc002hbj.3 uc002hbj.4 
ENST00000226253.9 ALDOC ENST00000226253.9 Homo sapiens aldolase, fructose-bisphosphate C (ALDOC), mRNA. (from RefSeq NM_005165) ALDC ALDOC_HUMAN B2R5R3 ENST00000226253.1 ENST00000226253.2 ENST00000226253.3 ENST00000226253.4 ENST00000226253.5 ENST00000226253.6 ENST00000226253.7 ENST00000226253.8 NM_005165 P09972 Q3SYL3 Q6FH94 Q6P0L5 uc002hbp.1 uc002hbp.2 uc002hbp.3 uc002hbp.4 uc002hbp.5 This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.124528.1, SRR3476690.1069107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226253.9/ ENSP00000226253.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate. Kinetic parameters: KM=10.7 uM for fructose 1,6-bisphosphate; KM=16 mM for fructose 1-phosphate; Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 4/4. Homotetramer. Interacts with ATP6V1E1. May interact with PLD2. In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain. Belongs to the class I fructose-bisphosphate aldolase family. Sequence=AAI03761.1; Type=Erroneous initiation; catalytic activity fructose-bisphosphate aldolase activity protein binding extracellular region cytosol cytoskeleton fructose metabolic process gluconeogenesis glycolytic process cytoskeletal protein binding lyase activity fructose 1,6-bisphosphate metabolic process epithelial cell differentiation secretory granule lumen neutrophil degranulation canonical glycolysis extracellular exosome tertiary granule lumen ficolin-1-rich granule lumen  uc002hbp.1 uc002hbp.2 uc002hbp.3 uc002hbp.4 uc002hbp.5 
ENST00000226279.8 CD38 ENST00000226279.8 Homo sapiens CD38 molecule (CD38), transcript variant 2, non-coding RNA. (from RefSeq NR_132660) CD38_HUMAN ENST00000226279.1 ENST00000226279.2 ENST00000226279.3 ENST00000226279.4 ENST00000226279.5 ENST00000226279.6 ENST00000226279.7 NR_132660 O00121 O00122 P28907 Q96HY4 uc003gol.1 uc003gol.2 uc003gol.3 The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. Synthesizes cyclic ADP-ribose, a second messenger for glucose-induced insulin secretion. Also has cADPr hydrolase activity. Also moonlights as a receptor in cells of the immune system. NAD(+) + H(2)O = ADP-ribose + nicotinamide. ATP inhibits the hydrolyzing activity. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P28907-1; Sequence=Displayed; Name=2; IsoId=P28907-2; Sequence=VSP_000707, VSP_000708; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed at high levels in pancreas, liver, kidney, brain, testis, ovary, placenta, malignant lymphoma and neuroblastoma. Preferentially expressed at both early and late stages of the B and T-cell maturation. It is also detected on erythroid and myeloid progenitors in bone marrow, where the level of surface expression was shown to decrease during differentiation of blast-forming unit E to colony-forming unit E. Belongs to the ADP-ribosyl cyclase family. Name=Wikipedia; Note=CD38 entry; URL="http://en.wikipedia.org/wiki/CD38"; response to hypoxia NAD+ nucleosidase activity nucleus plasma membrane signal transduction positive regulation of cytosolic calcium ion concentration female pregnancy positive regulation of cell proliferation response to hormone cell surface negative regulation of neuron projection development artery smooth muscle contraction membrane integral component of membrane basolateral plasma membrane transferase activity hydrolase activity hydrolase activity, acting on glycosyl bonds phosphorus-oxygen lyase activity NAD metabolic process positive regulation of cell growth secretory granule membrane positive regulation of B cell proliferation positive regulation of insulin secretion response to estradiol response to retinoic acid response to progesterone response to hydroperoxide response to cytokine response to drug identical protein binding negative regulation of apoptotic process intracellular membrane-bounded organelle negative regulation of bone resorption negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of vasoconstriction NAD(P)+ nucleosidase activity B cell receptor signaling pathway long term synaptic depression NAD+ nucleotidase, cyclic ADP-ribose generating extracellular exosome response to interleukin-1 apoptotic signaling pathway  uc003gol.1 uc003gol.2 uc003gol.3 
ENST00000226284.7 IBSP ENST00000226284.7 Homo sapiens integrin binding sialoprotein (IBSP), mRNA. (from RefSeq NM_004967) BNSP ENST00000226284.1 ENST00000226284.2 ENST00000226284.3 ENST00000226284.4 ENST00000226284.5 ENST00000226284.6 NM_004967 P21815 SIAL_HUMAN uc003hqx.1 uc003hqx.2 uc003hqx.3 uc003hqx.4 uc003hqx.5 uc003hqx.6 The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.193979.1, SRR1660807.136311.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226284.7/ ENSP00000226284.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Promotes Arg-Gly-Asp-dependent cell attachment. Secreted. N-glycosylated; glycans consist of sialylated and core- fucosylated bi-, tri- and tetraantennary chains. O-glycosylated at eight sites; mucin-type glycans contain Gal, GlcNAc, GalNAc and terminal NeuAc. Sulfated on either Tyr-313 or Tyr-314. It is possible that the segments of clustered carboxyl groups mediate the strong binding to hydroxyapatite. ossification osteoblast differentiation molecular_function integrin binding extracellular region extracellular space cell adhesion membrane extracellular matrix organization bone mineralization biomineral tissue development vesicle positive regulation of cell adhesion cellular response to growth factor stimulus  uc003hqx.1 uc003hqx.2 uc003hqx.3 uc003hqx.4 uc003hqx.5 uc003hqx.6 
ENST00000226299.9 LAP3 ENST00000226299.9 Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA. (from RefSeq NM_015907) AMPL_HUMAN B3KMQ3 ENST00000226299.1 ENST00000226299.2 ENST00000226299.3 ENST00000226299.4 ENST00000226299.5 ENST00000226299.6 ENST00000226299.7 ENST00000226299.8 LAPEP NM_015907 P28838 PEPS Q6IAM6 Q6P0L6 Q9UQE3 uc062vle.1 uc062vle.2 Presumably involved in the processing and regular turnover of intracellular proteins. Catalyzes the removal of unsubstituted N-terminal amino acids from various peptides. Release of an N-terminal amino acid, Xaa-|- Yaa-, in which Xaa is preferably Leu, but may be other amino acids including Pro although not Arg or Lys, and Yaa may be Pro. Amino acid amides and methyl esters are also readily hydrolyzed, but rates on arylamides are exceedingly low. Release of N-terminal proline from a peptide. Binds 2 zinc ions per subunit. One zinc ion is tightly bound and essential for enzyme activity, while the second metal coordination site can be occupied by zinc, magnesium or manganese to give enzymes of different activities (By similarity). Homohexamer. Cytoplasm. Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=P28838-1; Sequence=Displayed; Name=2; IsoId=P28838-2; Sequence=VSP_022631; Note=Met-1 is removed; Belongs to the peptidase M17 family. aminopeptidase activity nucleus nucleoplasm cytoplasm trans-Golgi network cytosol focal adhesion proteolysis peptidase activity metalloexopeptidase activity hydrolase activity protein metabolic process manganese ion binding midbody metal ion binding extracellular exosome  uc062vle.1 uc062vle.2 
ENST00000226317.10 CXCL6 ENST00000226317.10 Homo sapiens C-X-C motif chemokine ligand 6 (CXCL6), mRNA. (from RefSeq NM_002993) B2R4X3 CXCL6_HUMAN ENST00000226317.1 ENST00000226317.2 ENST00000226317.3 ENST00000226317.4 ENST00000226317.5 ENST00000226317.6 ENST00000226317.7 ENST00000226317.8 ENST00000226317.9 GCP2 NM_002993 P80162 Q4W5D4 SCYB6 uc003hhf.1 uc003hhf.2 uc003hhf.3 uc003hhf.4 uc003hhf.5 The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U81234.1, ERR279869.1807.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226317.10/ ENSP00000226317.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chemotactic for neutrophil granulocytes. Secreted. Belongs to the intercrine alpha (chemokine CxC) family. Name=Wikipedia; Note=CXCL6 entry; URL="http://en.wikipedia.org/wiki/CXCL6"; leukocyte homeostasis cytokine activity protein binding extracellular region extracellular space chemotaxis defense response inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity heparin binding neutrophil chemotaxis leukocyte chemotaxis response to lipopolysaccharide regulation of chemokine production neutrophil activation defense response to bacterium chemokine-mediated signaling pathway regulation of neutrophil mediated killing of gram-negative bacterium cellular response to lipopolysaccharide  uc003hhf.1 uc003hhf.2 uc003hhf.3 uc003hhf.4 uc003hhf.5 
ENST00000226319.11 JADE1 ENST00000226319.11 Homo sapiens jade family PHD finger 1 (JADE1), transcript variant 1, mRNA. (from RefSeq NM_199320) D3DNY0 D3DNY1 ENST00000226319.1 ENST00000226319.10 ENST00000226319.2 ENST00000226319.3 ENST00000226319.4 ENST00000226319.5 ENST00000226319.6 ENST00000226319.7 ENST00000226319.8 ENST00000226319.9 JADE1_HUMAN KIAA1807 NM_199320 PHF17 Q4W5D5 Q6IE81 Q6ZSL7 Q8NC41 Q96JL8 Q96SQ1 Q9H692 uc003igk.1 uc003igk.2 uc003igk.3 uc003igk.4 uc003igk.5 Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Transcriptional coactivator it may also promote acetylation of nucleosomal histone H4 by KAT5. Promotes apoptosis. May act as a renal tumor suppressor. Component of the HBO1 complex composed at least of ING4 or ING5, KAT7/HBO1, MEAF6, and one of PHF15, PHF16 and PHF17. Isoform 3 interacts with VHL and KAT5. Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=JADE1L; IsoId=Q6IE81-1; Sequence=Displayed; Name=2; IsoId=Q6IE81-2; Sequence=VSP_021045; Note=No experimental confirmation available; Name=3; Synonyms=JADE1S; IsoId=Q6IE81-3; Sequence=VSP_021046, VSP_021047; Highly expressed in kidney. Also present in pancreas, liver and heart (at protein level). Down-regulated in renal cancer cells. The 2 PHD-type zinc fingers are required for transcriptional activity. Belongs to the JADE family. Contains 2 PHD-type zinc fingers. Sequence=BAB15371.1; Type=Erroneous initiation; Sequence=BAC11335.1; Type=Erroneous initiation; histone acetyltransferase complex transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane apoptotic process nuclear speck negative regulation of cell growth ciliary basal body cell projection histone H3 acetylation histone H4-K5 acetylation histone H4-K8 acetylation histone H4-K12 acetylation metal ion binding negative regulation of canonical Wnt signaling pathway positive regulation of nucleic acid-templated transcription negative regulation of G1/S transition of mitotic cell cycle histone H4-K16 acetylation  uc003igk.1 uc003igk.2 uc003igk.3 uc003igk.4 uc003igk.5 
ENST00000226328.8 RUFY3 ENST00000226328.8 Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 2, mRNA. (from RefSeq NM_014961) B3KM25 B4DYW7 D9N163 ENST00000226328.1 ENST00000226328.2 ENST00000226328.3 ENST00000226328.4 ENST00000226328.5 ENST00000226328.6 ENST00000226328.7 KIAA0871 NM_014961 O94948 Q7L099 Q9UI00 RUFY3_HUMAN uc003hfq.1 uc003hfq.2 uc003hfq.3 uc003hfq.4 This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. Implicated in the formation of a single axon by developing neurons. May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Interacts with PIK3CA and PIK3R1 (By similarity). Cell projection (By similarity). Note=Enriched in F-actin enriched filopodia and lamellipodia of growth cones of axons and minor processes of hippocampal neurons in culture (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q7L099-1; Sequence=Displayed; Name=2; IsoId=Q7L099-2; Sequence=VSP_041250, VSP_041254, VSP_041255; Note=Ref.5 (AAF17208) sequence has a frameshift in position 116; Name=3; IsoId=Q7L099-3; Sequence=VSP_041253; Name=4; IsoId=Q7L099-4; Sequence=VSP_041251, VSP_041252, VSP_041253; Note=Ref.2 (BAG63879) sequence is in conflict in positions: 304:L->S, 431:R->G; Isoform 1 is partially phosphorylated (By similarity). Contains 1 RUN domain. Sequence=BAA74894.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding cytoplasm cytosol actin filament organization multicellular organism development nervous system development endomembrane system membrane lamellipodium cell junction cell differentiation filopodium positive regulation of cell migration axon dendrite growth cone cell projection neuronal cell body perikaryon positive regulation of axon extension regulation of axonogenesis negative regulation of axonogenesis invadopodium positive regulation of intracellular protein transport regulation of establishment of cell polarity  uc003hfq.1 uc003hfq.2 uc003hfq.3 uc003hfq.4 
ENST00000226355.5 AFM ENST00000226355.5 Homo sapiens afamin (AFM), mRNA. (from RefSeq NM_001133) A8K3E1 AFAM_HUMAN ALB2 ALBA ENST00000226355.1 ENST00000226355.2 ENST00000226355.3 ENST00000226355.4 NM_001133 P43652 Q32MR3 Q4W5C5 uc003hhb.1 uc003hhb.2 uc003hhb.3 uc003hhb.4 uc003hhb.5 This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290556.1, BC109020.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145122 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226355.5/ ENSP00000226355.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier (By similarity). Secreted. High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level). N-glycosylated; more than 90% of the glycans are sialylated. Belongs to the ALB/AFP/VDB family. Contains 3 albumin domains. fatty acid binding protein binding extracellular region extracellular space cytoplasm zinc ion binding vitamin E binding protein transport protein stabilization vitamin transport extracellular exosome protein transport within extracellular region blood microparticle  uc003hhb.1 uc003hhb.2 uc003hhb.3 uc003hhb.4 uc003hhb.5 
ENST00000226359.2 AFP ENST00000226359.2 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMX3) BC027881 ENST00000226359.1 J3KMX3 J3KMX3_HUMAN uc062xgg.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. extracellular space metal ion binding  uc062xgg.1 
ENST00000226382.4 PHOX2B ENST00000226382.4 Homo sapiens paired like homeobox 2B (PHOX2B), mRNA. (from RefSeq NM_003924) ENST00000226382.1 ENST00000226382.2 ENST00000226382.3 NM_003924 PHX2B_HUMAN PMX2B Q6PJD9 Q99453 uc003gwf.1 uc003gwf.2 uc003gwf.3 uc003gwf.4 uc003gwf.5 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D82344.1, BC017199.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226382.4/ ENSP00000226382.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum- response element. Interacts with TRIM11 (By similarity). Nucleus (By similarity). Expressed in neuroblastoma, brain and adrenal gland. Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases. Defects in PHOX2B are the cause of susceptibility to neuroblastoma type 2 (NBLST2) [MIM:613013]. A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHOX2B"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding neuron migration regulation of respiratory gaseous exchange by neurological system process noradrenergic neuron differentiation noradrenergic neuron development brainstem development DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development nervous system development negative regulation of cell proliferation glial cell differentiation regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle cell differentiation in hindbrain medullary reticular formation development hindbrain tangential cell migration neuron differentiation skeletal muscle cell differentiation sequence-specific DNA binding negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of transcription from RNA polymerase II promoter cell development autonomic nervous system development enteric nervous system development sympathetic nervous system development parasympathetic nervous system development inner ear development efferent axon development in a lateral line nerve respiratory system development retrotrapezoid nucleus neuron differentiation sympathetic ganglion development negative regulation of cell cycle arrest dopaminergic neuron differentiation cellular response to BMP stimulus neural crest cell migration involved in autonomic nervous system development  uc003gwf.1 uc003gwf.2 uc003gwf.3 uc003gwf.4 uc003gwf.5 
ENST00000226413.5 GNRHR ENST00000226413.5 Homo sapiens gonadotropin releasing hormone receptor (GNRHR), transcript variant 1, mRNA. (from RefSeq NM_000406) ENST00000226413.1 ENST00000226413.2 ENST00000226413.3 ENST00000226413.4 GNRHR_HUMAN GRHR NM_000406 O75793 P30968 Q14D13 Q92644 uc003hdn.1 uc003hdn.2 uc003hdn.3 uc003hdn.4 uc003hdn.5 This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]. Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle- stimulating hormone (FSH). This receptor mediates its action by association with G-proteins that activate a phosphatidylinositol- calcium second messenger system. Isoform 2 may act as an inhibitor of GnRH-R signaling. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P30968-1; Sequence=Displayed; Name=2; Synonyms=Truncated; IsoId=P30968-2; Sequence=VSP_001914; Pituitary, ovary, testis, breast and prostate but not in liver and spleen. Defects in GNRHR are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Defects in GNRHR are a cause of fertile eunuch syndrome (FEUNS) [MIM:228300]. Fertile eunuch syndrome is a mild phenotypic form of HH going with the presence of normal testicular size and some degree of spermatogenesis. Belongs to the G-protein coupled receptor 1 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GNRHR"; G-protein coupled receptor activity gonadotropin-releasing hormone receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway multicellular organism development membrane integral component of membrane protein-hormone receptor activity cellular response to hormone stimulus cellular response to gonadotropin-releasing hormone  uc003hdn.1 uc003hdn.2 uc003hdn.3 uc003hdn.4 uc003hdn.5 
ENST00000226432.9 CWH43 ENST00000226432.9 Homo sapiens cell wall biogenesis 43 C-terminal homolog (CWH43), transcript variant 1, mRNA. (from RefSeq NM_025087) B2RPD7 ENST00000226432.1 ENST00000226432.2 ENST00000226432.3 ENST00000226432.4 ENST00000226432.5 ENST00000226432.6 ENST00000226432.7 ENST00000226432.8 NM_025087 PG2IP_HUMAN PGAP2IP Q9H720 uc003gyv.1 uc003gyv.2 uc003gyv.3 uc003gyv.4 uc003gyv.5 Involved in lipid remodeling during GPI-anchor maturation (By similarity). Interacts with PGAP2/FRAG1 (By similarity). Membrane; Multi-pass membrane protein (Potential). Belongs to the PGAP2IP family. endoplasmic reticulum GPI anchor biosynthetic process membrane integral component of membrane  uc003gyv.1 uc003gyv.2 uc003gyv.3 uc003gyv.4 uc003gyv.5 
ENST00000226444.4 SULT1E1 ENST00000226444.4 Homo sapiens sulfotransferase family 1E member 1 (SULT1E1), mRNA. (from RefSeq NM_005420) ENST00000226444.1 ENST00000226444.2 ENST00000226444.3 NM_005420 Q53X91 Q53X91_HUMAN hCG_38316 uc003heo.1 uc003heo.2 uc003heo.3 uc003heo.4 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that transfers a sulfo moiety to and from estrone, which may control levels of estrogen receptors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027956.1, S77383.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267769 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226444.4/ ENSP00000226444.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## cytosol sulfotransferase activity transferase activity nuclear membrane  uc003heo.1 uc003heo.2 uc003heo.3 uc003heo.4 
ENST00000226460.5 SMR3A ENST00000226460.5 Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA. (from RefSeq NM_012390) ENST00000226460.1 ENST00000226460.2 ENST00000226460.3 ENST00000226460.4 NM_012390 PBI PROL5 Q99954 SMR3A_HUMAN uc003hfg.1 uc003hfg.2 uc003hfg.3 May play a role in protection or detoxification (By similarity). Secreted (Potential). Belongs to the PROL1/PROL3 family. endopeptidase inhibitor activity extracellular region negative regulation of endopeptidase activity regulation of sensory perception of pain  uc003hfg.1 uc003hfg.2 uc003hfg.3 
ENST00000226522.8 LAMTOR3 ENST00000226522.8 Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 (LAMTOR3), transcript variant 3, mRNA. (from RefSeq NM_001243736) B2R4A1 ENST00000226522.1 ENST00000226522.2 ENST00000226522.3 ENST00000226522.4 ENST00000226522.5 ENST00000226522.6 ENST00000226522.7 LTOR3_HUMAN MAP2K1IP1 MAPKSP1 NM_001243736 PRO2783 Q9H364 Q9UHA4 uc003hvh.1 uc003hvh.2 uc003hvh.3 This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]. As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids. Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator functions as a guanine nucleotide exchange factor activating the small GTPases Rag. Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated. Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2. Part of the Ragulator complex composed of LAMTOR1, LAMTOR2, LAMTOR3, LAMTOR4 and LAMTOR5. LAMTOR4 and LAMTOR5 form an heterodimer that interacts, through LAMTOR1, with a LAMTOR2, LAMTOR3 heterodimer. The Ragulator complex interacts with both the mTORC1 complex and heterodimers constituted of the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; regulated by amino acid availability. Interacts with LAMTOR1 and LAMTOR2; the interaction is direct. Interacts with MAP2K1/MEK1 and MAPK2 (By similarity). Interacts with MORG1 (By similarity). Q9Y2Q5:LAMTOR2; NbExp=3; IntAct=EBI-1038192, EBI-2643704; Late endosome membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Belongs to the LAMTOR3 family. MAPK cascade activation of MAPKK activity protein binding lysosomal membrane endosome late endosome plasma membrane focal adhesion cell cycle arrest endosome membrane membrane regulation of macroautophagy kinase activator activity late endosome membrane regulation of TOR signaling positive regulation of TOR signaling cellular protein localization specific granule membrane neutrophil degranulation extracellular exosome tertiary granule membrane cellular response to amino acid stimulus Ragulator complex guanyl-nucleotide exchange factor activity binding, bridging  uc003hvh.1 uc003hvh.2 uc003hvh.3 
ENST00000226524.4 PF4V1 ENST00000226524.4 Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA. (from RefSeq NM_002620) A1L4S0 CXCL4V1 ENST00000226524.1 ENST00000226524.2 ENST00000226524.3 NM_002620 P10720 PF4V_HUMAN SCYB4V1 uc003hhg.1 uc003hhg.2 uc003hhg.3 The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.25447.1, ERR279829.555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2144335 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226524.4/ ENSP00000226524.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro). Secreted. The N-terminal processed forms of platelet factor 4 variant seems to be produced by proteolytic cleavage. The most abundant form is Platelet factor 4 variant(5-74). Mass=8250.9; Method=Electrospray; Range=31-104; Note=Platelet factor 4 variant; Source=PubMed:15459074; Mass=7877.7; Method=Electrospray; Range=34-104; Note=Platelet factor 4 variant(4-74); Source=PubMed:15459074; Mass=7805.8; Method=Electrospray; Range=35-104; Note=Platelet factor 4 variant(5-74); Source=PubMed:15459074; Mass=7678.6; Method=Electrospray; Range=36-104; Note=Platelet factor 4 variant(6-74); Source=PubMed:15459074; Belongs to the intercrine alpha (chemokine CxC) family. cytokine activity protein binding extracellular region extracellular space chemotaxis defense response inflammatory response immune response chemokine activity heparin binding platelet activation neutrophil chemotaxis leukocyte chemotaxis chemokine-mediated signaling pathway cellular response to lipopolysaccharide  uc003hhg.1 uc003hhg.2 uc003hhg.3 
ENST00000226574.9 NFKB1 ENST00000226574.9 Homo sapiens nuclear factor kappa B subunit 1 (NFKB1), transcript variant 1, mRNA. (from RefSeq NM_003998) A8K5Y5 B3KVE8 ENST00000226574.1 ENST00000226574.2 ENST00000226574.3 ENST00000226574.4 ENST00000226574.5 ENST00000226574.6 ENST00000226574.7 ENST00000226574.8 NFKB1_HUMAN NM_003998 P19838 Q68D84 Q86V43 Q8N4X7 Q9NZC0 uc011cep.1 uc011cep.2 uc011cep.3 This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051765.1, M55643.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226574.9/ ENSP00000226574.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and RelB-p50 complexes are transcriptional activators. The NF-kappa-B p50-p50 homodimer is a transcriptional repressor, but can act as a transcriptional activator when associated with BCL3. NFKB1 appears to have dual functions such as cytoplasmic retention of attached NF-kappa-B proteins by p105 and generation of p50 by a cotranslational processing. The proteasome-mediated process ensures the production of both p50 and p105 and preserves their independent function, although processing of NFKB1/p105 also appears to occur post-translationally. p50 binds to the kappa-B consensus sequence 5'-GGRNNYYCC-3', located in the enhancer region of genes involved in immune response and acute phase reactions. In a complex with MAP3K8, NFKB1/p105 represses MAP3K8-induced MAPK signaling; active MAP3K8 is released by proteasome-dependent degradation of NFKB1/p105. Component of the NF-kappa-B p65-p50 complex. Component of the NF-kappa-B p65-p50 complex. Homodimer; component of the NF- kappa-B p50-p50 complex. Component of the NF-kappa-B p105-p50 complex. Component of the NF-kappa-B p50-c-Rel complex. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Also interacts with MAP3K8. NF-kappa-B p50 subunit interacts with NCOA3 coactivator, which may coactivate NF-kappa-B dependent expression via its histone acetyltransferase activity. Interacts with DSIPI; this interaction prevents nuclear translocation and DNA-binding. Interacts with SPAG9 and UNC5CL. NFKB1/p105 interacts with CFLAR; the interaction inhibits p105 processing into p50. NFKB1/p105 forms a ternary complex with MAP3K8 and TNIP2. Interacts with GSK3B; the interaction prevents processing of p105 to p50. NFKB1/p50 interacts with NFKBIE. NFKB1/p50 interacts with NFKBIZ. Nuclear factor NF-kappa-B p50 subunit interacts with NFKBID (By similarity). Directly interacts with MEN1. Interacts with HIF1AN. Q92887:ABCC2; NbExp=3; IntAct=EBI-300010, EBI-3916193; P03372:ESR1; NbExp=3; IntAct=EBI-697771, EBI-78473; Q13547:HDAC1; NbExp=4; IntAct=EBI-300010, EBI-301834; P25963:NFKBIA; NbExp=2; IntAct=EBI-300010, EBI-307386; Q14690:PDCD11; NbExp=2; IntAct=EBI-300010, EBI-300028; Q8IZL8:PELP1; NbExp=2; IntAct=EBI-300010, EBI-716449; Q8IV08:PLD3; NbExp=2; IntAct=EBI-300010, EBI-2689908; Q04206:RELA; NbExp=9; IntAct=EBI-300010, EBI-73886; P23396:RPS3; NbExp=2; IntAct=EBI-300010, EBI-351193; Q8NFZ5:TNIP2; NbExp=8; IntAct=EBI-1452239, EBI-359372; Nucleus. Cytoplasm. Note=Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P19838-1; Sequence=Displayed; Name=2; IsoId=P19838-2; Sequence=VSP_021025; Name=3; IsoId=P19838-3; Sequence=VSP_042869, VSP_042870; Note=No experimental confirmation available; By phorbol ester and TNF. The C-terminus of p105 might be involved in cytoplasmic retention, inhibition of DNA-binding, and transcription activation. Glycine-rich region (GRR) appears to be a critical element in the generation of p50. While translation occurs, the particular unfolded structure after the GRR repeat promotes the generation of p50 making it an acceptable substrate for the proteasome. This process is known as cotranslational processing. The processed form is active and the unprocessed form acts as an inhibitor (I kappa B-like), being able to form cytosolic complexes with NF-kappa B, trapping it in the cytoplasm. Complete folding of the region downstream of the GRR repeat precludes processing. Phosphorylation at 'Ser-903' and 'Ser-907' primes p105 for proteolytic processing in response to TNF-alpha stimulation. Phosphorylation at 'Ser-927' and 'Ser-932' are required for BTRC/BTRCP-mediated proteolysis. Polyubiquitination seems to allow p105 processing. S-nitrosylation of Cys-61 affects DNA binding. The covalent modification of cysteine by 15-deoxy-Delta12,14- prostaglandin-J2 is autocatalytic and reversible. It may occur as an alternative to other cysteine modifications, such as S- nitrosylation and S-palmitoylation. Contains 7 ANK repeats. Contains 1 death domain. Contains 1 RHD (Rel-like) domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NFKB1ID323.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nfkb1/"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription coactivator binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding negative regulation of cytokine production stimulatory C-type lectin receptor signaling pathway DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding extracellular region nucleus nucleoplasm cytoplasm mitochondrion cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter apoptotic process inflammatory response signal transduction I-kappaB kinase/NF-kappaB signaling transcription factor binding negative regulation of gene expression positive regulation of macrophage derived foam cell differentiation positive regulation of lipid storage negative regulation of calcidiol 1-monooxygenase activity negative regulation of vitamin D biosynthetic process enzyme binding membrane protein intracellular domain proteolysis negative regulation of cellular protein metabolic process negative regulation of cholesterol transport positive regulation of type I interferon production I-kappaB/NF-kappaB complex response to cytokine secretory granule lumen specific granule lumen response to muscle stretch NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway identical protein binding protein homodimerization activity actinin binding negative regulation of apoptotic process neutrophil degranulation sequence-specific DNA binding transcription regulatory region DNA binding negative regulation of interleukin-12 biosynthetic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity negative regulation of inflammatory response T cell receptor signaling pathway positive regulation of NF-kappaB transcription factor activity stress-activated MAPK cascade interleukin-1-mediated signaling pathway cellular response to lipopolysaccharide cellular response to mechanical stimulus cellular response to nicotine cellular response to interleukin-1 cellular response to interleukin-6 cellular response to tumor necrosis factor cellular response to dsRNA positive regulation of canonical Wnt signaling pathway positive regulation of hyaluronan biosynthetic process cellular response to angiotensin positive regulation of miRNA metabolic process  uc011cep.1 uc011cep.2 uc011cep.3 
ENST00000226725.11 KLHL2 ENST00000226725.11 Homo sapiens kelch like family member 2 (KLHL2), transcript variant 1, mRNA. (from RefSeq NM_007246) A6NCM7 B4DFH7 ENST00000226725.1 ENST00000226725.10 ENST00000226725.2 ENST00000226725.3 ENST00000226725.4 ENST00000226725.5 ENST00000226725.6 ENST00000226725.7 ENST00000226725.8 ENST00000226725.9 KLHL2_HUMAN NM_007246 O95198 Q8N484 Q8TBH5 uc003irb.1 uc003irb.2 uc003irb.3 uc003irb.4 uc003irb.5 May play a role in organizing the actin cytoskeleton of the brain cells. Binds actin. Interacts with KLHL12. Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95198-1; Sequence=Displayed; Name=2; IsoId=O95198-2; Sequence=VSP_042837; Note=No experimental confirmation available; Predominantly expressed in brain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. ruffle actin binding protein binding cytoplasm cytosol cytoskeleton actin cytoskeleton protein ubiquitination lamellipodium Cul3-RING ubiquitin ligase complex identical protein binding cell projection post-translational protein modification  uc003irb.1 uc003irb.2 uc003irb.3 uc003irb.4 uc003irb.5 
ENST00000226730.5 IL2 ENST00000226730.5 Homo sapiens interleukin 2 (IL2), mRNA. (from RefSeq NM_000586) ENST00000226730.1 ENST00000226730.2 ENST00000226730.3 ENST00000226730.4 NM_000586 Q0GK43 Q0GK43_HUMAN hCG_38828 uc003ier.1 uc003ier.2 uc003ier.3 uc003ier.4 uc003ier.5 The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: S82692.1, BC070338.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226730.5/ ENSP00000226730.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## negative regulation of protein phosphorylation positive regulation of protein phosphorylation adaptive immune response immune system process cytokine activity interleukin-2 receptor binding extracellular region extracellular space cell immune response G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration protein kinase C-activating G-protein coupled receptor signaling pathway growth factor activity carbohydrate binding kappa-type opioid receptor binding positive regulation of interferon-gamma production positive regulation of T cell proliferation positive regulation of activated T cell proliferation positive regulation of tyrosine phosphorylation of STAT protein glycosphingolipid binding response to ethanol positive regulation of T cell differentiation positive regulation of regulatory T cell differentiation negative regulation of heart contraction positive regulation of transcription from RNA polymerase II promoter regulation of T cell homeostatic proliferation positive regulation of isotype switching to IgG isotypes negative regulation of lymphocyte proliferation negative regulation of inflammatory response positive regulation of immunoglobulin secretion positive regulation of dendritic spine development extrinsic apoptotic signaling pathway in absence of ligand negative regulation of T-helper 17 cell differentiation  uc003ier.1 uc003ier.2 uc003ier.3 uc003ier.4 uc003ier.5 
ENST00000226760.5 WFS1 ENST00000226760.5 Homo sapiens wolframin ER transmembrane glycoprotein (WFS1), transcript variant 1, mRNA. (from RefSeq NM_006005) B2R797 D3DVT1 ENST00000226760.1 ENST00000226760.2 ENST00000226760.3 ENST00000226760.4 NM_006005 O76024 Q8N6I3 Q9UNW6 WFS1_HUMAN uc003gix.1 uc003gix.2 uc003gix.3 This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store. Endoplasmic reticulum membrane; Multi-pass membrane protein. Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line. Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese. Defects in WFS1 are the cause of Wolfram syndrome type 1 (WFS1) [MIM:222300]. A rare autosomal recessive disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy, deafness and various neurological symptoms. Defects in WFS1 are the cause of deafness autosomal dominant type 6 (DFNA6) [MIM:600965]; also called non-syndromic sensorineural deafness autosomal dominant type 14 (DFNA14) or non- syndromic sensorineural deafness autosomal dominant type 38 (DFNA38). DFNA6 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low- frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. Defects in WFS1 are the cause of Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]. A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges. Name=WFS1 gene mutation and polymorphism database; URL="http://www.khri.med.umich.edu/research/lesperance_lab/low_freq.php"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WFS1"; negative regulation of transcription from RNA polymerase II promoter kidney development renal water homeostasis protein binding calmodulin binding endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane ER overload response visual perception sensory perception of sound membrane integral component of membrane protein maturation by protein folding integral component of endoplasmic reticulum membrane integral component of synaptic vesicle membrane dendrite ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response pancreas development positive regulation of protein ubiquitination ubiquitin protein ligase binding endoplasmic reticulum calcium ion homeostasis activating transcription factor binding response to endoplasmic reticulum stress IRE1-mediated unfolded protein response olfactory behavior glucose homeostasis negative regulation of programmed cell death negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of neuron apoptotic process post-translational protein modification cellular protein metabolic process positive regulation of growth calcium-dependent protein binding protein stabilization neurological system process ATPase binding positive regulation of protein metabolic process positive regulation of calcium ion transport calcium ion homeostasis proteasome binding negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway negative regulation of ATF6-mediated unfolded protein response negative regulation of type B pancreatic cell apoptotic process  uc003gix.1 uc003gix.2 uc003gix.3 
ENST00000226796.7 GAR1 ENST00000226796.7 Homo sapiens GAR1 ribonucleoprotein (GAR1), transcript variant 1, mRNA. (from RefSeq NM_018983) ENST00000226796.1 ENST00000226796.2 ENST00000226796.3 ENST00000226796.4 ENST00000226796.5 ENST00000226796.6 GAR1_HUMAN NM_018983 NOLA1 Q5MJQ2 Q9NY12 uc003hzt.1 uc003hzt.2 uc003hzt.3 uc003hzt.4 uc003hzt.5 This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]. Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NY12-1; Sequence=Displayed; Name=2; IsoId=Q9NY12-2; Sequence=VSP_014594; Note=No experimental confirmation available; Interaction with SMN1 requires at least one of the RGG-box regions. Belongs to the GAR1 family. snoRNA guided rRNA pseudouridine synthesis nuclear chromosome, telomeric region pseudouridine synthesis fibrillar center RNA binding protein binding nucleus nucleoplasm telomerase holoenzyme complex nucleolus rRNA processing telomere maintenance via telomerase Cajal body rRNA pseudouridine synthesis box H/ACA snoRNP complex box H/ACA snoRNA binding ribosome biogenesis telomerase RNA binding box H/ACA scaRNP complex box H/ACA telomerase RNP complex  uc003hzt.1 uc003hzt.2 uc003hzt.3 uc003hzt.4 uc003hzt.5 
ENST00000226798.9 FRG1 ENST00000226798.9 Homo sapiens FSHD region gene 1 (FRG1), mRNA. (from RefSeq NM_004477) A8K775 ENST00000226798.1 ENST00000226798.2 ENST00000226798.3 ENST00000226798.4 ENST00000226798.5 ENST00000226798.6 ENST00000226798.7 ENST00000226798.8 FRG1_HUMAN NM_004477 Q14331 uc003izs.1 uc003izs.2 uc003izs.3 uc003izs.4 uc003izs.5 This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053997.1, AK291890.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226798.9/ ENSP00000226798.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May have a role in processing of pre-rRNA or in the assembly of rRNA into ribosomal subunits. May be involved in pre- mRNA splicing. Identified in the spliceosome C complex. Nucleus, Cajal body. Nucleus speckle. Nucleus, nucleolus. Note=First expressed in Cajal bodies and nuclear speckles. As speckle expression diminishes, expression is seen in dense structures (dense fibrillar component and the granular component) of the nucleolus. Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Belongs to the FRG1 family. mRNA splicing, via spliceosome RNA binding actin binding protein binding nucleus spliceosomal complex nucleolus cytoplasm rRNA processing mRNA processing muscle organ development RNA splicing Cajal body Z disc ribosome biogenesis actin filament binding striated muscle dense body catalytic step 2 spliceosome  uc003izs.1 uc003izs.2 uc003izs.3 uc003izs.4 uc003izs.5 
ENST00000226951.11 CLNK ENST00000226951.11 Homo sapiens cytokine dependent hematopoietic cell linker (CLNK), mRNA. (from RefSeq NM_052964) CLNK_HUMAN ENST00000226951.1 ENST00000226951.10 ENST00000226951.2 ENST00000226951.3 ENST00000226951.4 ENST00000226951.5 ENST00000226951.6 ENST00000226951.7 ENST00000226951.8 ENST00000226951.9 MIST NM_052964 Q05C27 Q7Z7G1 Q9P2U9 uc003gmo.1 uc003gmo.2 uc003gmo.3 uc003gmo.4 uc003gmo.5 uc003gmo.6 MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK093001.1, AB110420.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2152719 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000226951.11/ ENSP00000226951.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plays a role in the regulation of immunoreceptor signaling, including PLC-gamma-mediated B-cell antigen receptor (BCR) signaling and FC-epsilon R1-mediated mast cell degranulation. Involved in phosphorylation of LAT (By similarity). When phosphorylated, interacts with PLCG1, PLCG2, GRB2, VAV and LAT (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z7G1-1; Sequence=Displayed; Name=2; IsoId=Q7Z7G1-2; Sequence=VSP_030330, VSP_030332, VSP_030333; Name=3; IsoId=Q7Z7G1-3; Sequence=VSP_030331; The N-terminal proline-rich region interacts with the SH3 domain of PLCG1 (By similarity). The SH2 domain is important for restoration of BCR-induced calcium response and JNK2 activation in BLNK-deficient DT40 cells expressing LAT (By similarity). Tyrosine-phosphorylated upon BCR cross-linking. Tyrosine phosphorylation at both Tyr-69 and Tyr-96 are required for BCR- induced calcium response and are essential to restore PLCG2- mediated signaling in BLNK-deficient DT40 cells, but this phosphorylation is dispensable in cells expressing LAT. Interacts with the SH2 domain of PLCG1 via phosphorylated Tyr-96 (By similarity). Contains 1 SH2 domain. positive regulation of natural killer cell cytokine production SH3/SH2 adaptor activity protein binding cytoplasm immune response transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of signal transduction regulation of cell death negative regulation of natural killer cell activation intracellular signal transduction  uc003gmo.1 uc003gmo.2 uc003gmo.3 uc003gmo.4 uc003gmo.5 uc003gmo.6 
ENST00000227065.8 FAM149A ENST00000227065.8 Homo sapiens family with sequence similarity 149 member A (FAM149A), transcript variant 1, mRNA. (from RefSeq NM_015398) A5PLN7 B5MDB8 ENST00000227065.1 ENST00000227065.2 ENST00000227065.3 ENST00000227065.4 ENST00000227065.5 ENST00000227065.6 ENST00000227065.7 F149A_HUMAN MST119 NM_015398 Q2TAN6 Q7Z2S5 Q9Y4T9 uc003iyt.1 uc003iyt.2 uc003iyt.3 uc003iyt.4 uc003iyt.5 Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=A5PLN7-1; Sequence=Displayed; Name=2; IsoId=A5PLN7-2; Sequence=VSP_031530; Name=3; IsoId=A5PLN7-3; Sequence=VSP_031532; Name=4; IsoId=A5PLN7-4; Sequence=VSP_031531; Note=No experimental confirmation available; Belongs to the FAM149 family. Sequence=AAI10817.1; Type=Erroneous initiation; Sequence=AAQ13641.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAQ13641.1; Type=Frameshift; Positions=635;  uc003iyt.1 uc003iyt.2 uc003iyt.3 uc003iyt.4 uc003iyt.5 
ENST00000227135.7 SPA17 ENST00000227135.7 Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA. (from RefSeq NM_017425) B2R4F2 ENST00000227135.1 ENST00000227135.2 ENST00000227135.3 ENST00000227135.4 ENST00000227135.5 ENST00000227135.6 NM_017425 Q15506 Q9BXF7 SP17 SP17_HUMAN uc001qap.1 uc001qap.2 uc001qap.3 uc001qap.4 uc001qap.5 This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.223840.1, SRR1803617.128145.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity). Homodimer (By similarity). May interact with ROPN1. Membrane; Peripheral membrane protein (Potential). Testis and sperm specific. Contains 1 IQ domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/SPA17ID42360ch11q24.html"; epithelial cilium movement protein binding calmodulin binding extracellular region cytoplasm cilium spermatogenesis single fertilization binding of sperm to zona pellucida external side of plasma membrane membrane motile cilium sperm fibrous sheath sperm principal piece  uc001qap.1 uc001qap.2 uc001qap.3 uc001qap.4 uc001qap.5 
ENST00000227155.9 CD82 ENST00000227155.9 Homo sapiens CD82 molecule (CD82), transcript variant 1, mRNA. (from RefSeq NM_002231) CD82_HUMAN D3DQN6 ENST00000227155.1 ENST00000227155.2 ENST00000227155.3 ENST00000227155.4 ENST00000227155.5 ENST00000227155.6 ENST00000227155.7 ENST00000227155.8 KAI1 NM_002231 P27701 Q7Z2D4 SAR2 ST6 TSPAN27 uc001myc.1 uc001myc.2 uc001myc.3 uc001myc.4 uc001myc.5 This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Associates with CD4 or CD8 and delivers costimulatory signals for the TCR/CD3 pathway. Interacts directly with IGSF8. Q8TAA9:VANGL1; NbExp=6; IntAct=EBI-682379, EBI-682393; Membrane; Multi-pass membrane protein. Lymphoid specific. Belongs to the tetraspanin (TM4SF) family. protein binding plasma membrane integral component of plasma membrane membrane integral component of membrane extracellular exosome  uc001myc.1 uc001myc.2 uc001myc.3 uc001myc.4 uc001myc.5 
ENST00000227157.8 LDHA ENST00000227157.8 Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 5, mRNA. (from RefSeq NM_001165416) B4DKQ2 B7Z5E3 D3DQY3 ENST00000227157.1 ENST00000227157.2 ENST00000227157.3 ENST00000227157.4 ENST00000227157.5 ENST00000227157.6 ENST00000227157.7 F8W819 LDHA_HUMAN NM_001165416 P00338 PIG19 Q53G53 Q6IBM7 Q6ZNV1 Q9UDE8 Q9UDE9 uc001mol.1 uc001mol.2 uc001mol.3 uc001mol.4 The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]. (S)-lactate + NAD(+) = pyruvate + NADH. Fermentation; pyruvate fermentation to lactate; (S)- lactate from pyruvate: step 1/1. Homotetramer. Cytoplasm. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=P00338-1; Sequence=Displayed; Name=2; IsoId=P00338-2; Sequence=VSP_014261, VSP_042787; Note=No experimental confirmation available; Name=3; IsoId=P00338-3; Sequence=VSP_042206; Name=4; IsoId=P00338-4; Sequence=VSP_042786; Name=5; IsoId=P00338-5; Sequence=VSP_042788, VSP_042789; ISGylated. Defects in LDHA are the cause of glycogen storage disease type 11 (GSD11) [MIM:612933]. A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. Belongs to the LDH/MDH superfamily. LDH family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDHA"; Name=Wikipedia; Note=Lactate dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Lactate_dehydrogenase"; Name=Protein Spotlight; Note=Another dark horse - Issue 109 of September 2009; URL="http://web.expasy.org/spotlight/back_issues/sptlt109.shtml"; response to hypoxia catalytic activity lactate dehydrogenase activity L-lactate dehydrogenase activity protein binding nucleus cytoplasm cytosol carbohydrate metabolic process lactate metabolic process pyruvate metabolic process glycolytic process response to nutrient response to glucose response to organic cyclic compound membrane oxidoreductase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor NAD metabolic process carboxylic acid metabolic process kinase binding substantia nigra development response to drug response to hydrogen peroxide identical protein binding positive regulation of apoptotic process response to estrogen cadherin binding post-embryonic animal organ development NAD binding response to cAMP oxidation-reduction process extracellular exosome  uc001mol.1 uc001mol.2 uc001mol.3 uc001mol.4 
ENST00000227163.8 SPI1 ENST00000227163.8 Homo sapiens Spi-1 proto-oncogene (SPI1), transcript variant 1, mRNA. (from RefSeq NM_001080547) ENST00000227163.1 ENST00000227163.2 ENST00000227163.3 ENST00000227163.4 ENST00000227163.5 ENST00000227163.6 ENST00000227163.7 NM_001080547 P17947 SPI1_HUMAN uc001nfb.1 uc001nfb.2 This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Binds to the PU-box, a purine-rich DNA sequence (5'- GAGGAA-3') that can act as a lymphoid-specific enhancer. This protein is a transcriptional activator that may be specifically involved in the differentiation or activation of macrophages or B- cells. Also binds RNA and may modulate pre-mRNA splicing (By similarity). Binds DNA as a monomer. Interacts with CEBPD and NONO (By similarity). Interacts with RUNX1 and SPIB. Interacts with GFI1; the interaction represses SPI1 transcriptional activity. P31260:HOXA10; NbExp=2; IntAct=EBI-2293548, EBI-2293516; Q15156:PML-RAR; NbExp=20; IntAct=EBI-2293548, EBI-867256; P78527:PRKDC; NbExp=2; IntAct=EBI-2293548, EBI-352053; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P17947-1; Sequence=Displayed; Name=2; IsoId=P17947-2; Sequence=VSP_038690; Highly expressed in both FV-P and FV-A-induced erythro- leukemia cell lines that have undergone rearrangements of the SPI1 gene due to the insertion of SFFV. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Sequence=CAA36281.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SPI1ID269.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding vasculature development lymphoid progenitor cell differentiation myeloid leukocyte differentiation DNA binding transcription factor activity, sequence-specific DNA binding RNA binding protein binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription factor binding lymphocyte differentiation cell differentiation erythrocyte differentiation macrophage differentiation granulocyte differentiation somatic stem cell population maintenance myeloid dendritic cell differentiation sequence-specific DNA binding histone H3 acetylation hypermethylation of CpG island negative regulation of MHC class II biosynthetic process regulation of erythrocyte differentiation negative regulation of gene expression, epigenetic negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter NFAT protein binding anatomical structure regression pri-miRNA transcription from RNA polymerase II promoter interleukin-6-mediated signaling pathway cellular response to ethanol negative regulation of histone H4 acetylation apoptotic process involved in blood vessel morphogenesis positive regulation of pri-miRNA transcription from RNA polymerase II promoter  uc001nfb.1 uc001nfb.2 
ENST00000227214.10 PLEKHB1 ENST00000227214.10 Homo sapiens pleckstrin homology domain containing B1 (PLEKHB1), transcript variant 4, mRNA. (from RefSeq NM_001130035) A8K0Q5 B2RBP1 B7Z716 ENST00000227214.1 ENST00000227214.2 ENST00000227214.3 ENST00000227214.4 ENST00000227214.5 ENST00000227214.6 ENST00000227214.7 ENST00000227214.8 ENST00000227214.9 EVT1 KPL1 NM_001130035 PHR1 PHRET1 PKHB1_HUMAN Q9UBF5 Q9UF11 Q9UI37 Q9UI44 uc001oud.1 uc001oud.2 uc001oud.3 Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Homodimer. Interacts (via PH domain) with MYO1C. Interacts (via PH domain) with MYO7A (By similarity). Binds transducins. Membrane. Cytoplasm (By similarity). Note=Localizes to the apical juxta-nuclear Golgi region of the cytoplasm (By similarity). Membrane-associated. Highly expressed in the outer segments of photoreceptor cells, both in rods and cones. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UF11-1; Sequence=Displayed; Name=2; IsoId=Q9UF11-2; Sequence=VSP_009780; Name=3; IsoId=Q9UF11-3; Sequence=VSP_009779; Name=4; IsoId=Q9UF11-4; Sequence=VSP_009779, VSP_009780; Highly expressed in retina and brain. Levels are very low or not detectable in all other tissues tested. Contains 1 PH domain. protein binding cytoplasm multicellular organism development phototransduction membrane integral component of membrane regulation of cell differentiation  uc001oud.1 uc001oud.2 uc001oud.3 
ENST00000227251.7 CRYAB ENST00000227251.7 crystallin alpha B (from HGNC CRYAB) BC007008 ENST00000227251.1 ENST00000227251.2 ENST00000227251.3 ENST00000227251.4 ENST00000227251.5 ENST00000227251.6 V9HW27 uc058hgd.1  uc058hgd.1 
ENST00000227266.10 CTSC ENST00000227266.10 Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA. (from RefSeq NM_001814) A8K7V2 B5MDD5 CATC_HUMAN CPPI ENST00000227266.1 ENST00000227266.2 ENST00000227266.3 ENST00000227266.4 ENST00000227266.5 ENST00000227266.6 ENST00000227266.7 ENST00000227266.8 ENST00000227266.9 NM_001814 P53634 Q2HIY8 Q53G93 Q71E75 Q71E76 Q7M4N9 Q7Z3G7 Q7Z5U7 Q8WY99 Q8WYA7 Q8WYA8 uc001pck.1 uc001pck.2 uc001pck.3 uc001pck.4 uc001pck.5 uc001pck.6 This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]. Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B. Can also activate neuraminidase and factor XIII. Release of an N-terminal dipeptide, Xaa-Yaa-|- Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro. Binds 1 chloride ion per heavy chain. Strongly inhibited by the cysteine peptidase inhibitors mersalyl acid, iodoacetic acid and cystatin. Inhibited by N-ethylmaleimide, Gly-Phe-diazomethane, TLCK, TPCK and, at low pH, by dithiodipyridine. Not inhibited by the serine peptidase inhibitor PMSF, the aminopeptidase inhibitor bestatin, or metal ion chelators. pH dependence: High activity at pH 4.5-6.8; Tetramer of heterotrimers consisting of exclusion domain, heavy- and light chains. Lysosome. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P53634-1; Sequence=Displayed; Name=2; IsoId=P53634-2; Sequence=VSP_039123, VSP_039124; Name=3; IsoId=P53634-3; Sequence=VSP_043232, VSP_043233; Note=No experimental confirmation available; Ubiquitous. Highly expressed in lung, kidney and placenta. Detected at intermediate levels in colon, small intestine, spleen and pancreas. Up-regulated in lymphocytes by IL2/interleukin-2. N-glycosylated. While glycosylation at Asn-53, Asn-119 and Asn-276 is mediated by STT3A-containing complexes, glycosylation at Asn-29 is mediated STT3B-containing complexes. In approximately 50% of the complexes the exclusion domain is cleaved at position 58 or 61. The two parts of the exclusion domain are held together by a disulfide bond. Defects in CTSC are a cause of Papillon-Lefevre syndrome (PLS) [MIM:245000]; also known as keratosis palmoplantaris with periodontopathia. PLS is an autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Keratosis also affects other sites such as elbows and knees. Defects in CTSC are a cause of Haim-Munk syndrome (HMS) [MIM:245010]; also known as keratosis palmoplantaris with periodontopathia and onychogryposis or Cochin Jewish disorder. HMS is an autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. Defects in CTSC are a cause of aggressive periodontititis type 1 (AP1) [MIM:170650]; also known as juvenile periodontitis (JPD) and prepubertal periodontitis (PPP). AP1 is characterized by severe and protracted gingival infections, leading to tooth loss. AP1 inheritance is autosomal dominant. Belongs to the peptidase C1 family. Sequence=CAD97897.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=CTSCbase; Note=CTSC mutation db; URL="http://bioinf.uta.fi/CTSCbase/"; Golgi membrane T cell mediated cytotoxicity cysteine-type endopeptidase activity serine-type endopeptidase activity protein binding extracellular region extracellular space nucleoplasm cytoplasm lysosome endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus centrosome proteolysis ER to Golgi vesicle-mediated transport apoptotic process immune response aging peptidase activity cysteine-type peptidase activity response to organic substance membrane peptidase activator activity involved in apoptotic process hydrolase activity phosphatase binding ER to Golgi transport vesicle chloride ion binding negative regulation of myelination endoplasmic reticulum-Golgi intermediate compartment membrane azurophil granule lumen identical protein binding intracellular membrane-bounded organelle neutrophil degranulation protein self-association COPII vesicle coating chaperone binding proteolysis involved in cellular protein catabolic process extracellular exosome positive regulation of proteolysis involved in cellular protein catabolic process positive regulation of microglial cell activation positive regulation of apoptotic signaling pathway  uc001pck.1 uc001pck.2 uc001pck.3 uc001pck.4 uc001pck.5 uc001pck.6 
ENST00000227322.8 ZPR1 ENST00000227322.8 Homo sapiens ZPR1 zinc finger (ZPR1), transcript variant 1, mRNA. (from RefSeq NM_003904) ENST00000227322.1 ENST00000227322.2 ENST00000227322.3 ENST00000227322.4 ENST00000227322.5 ENST00000227322.6 ENST00000227322.7 NM_003904 O75312 Q2TAA0 ZNF259 ZPR1_HUMAN uc001ppp.1 uc001ppp.2 uc001ppp.3 uc001ppp.4 uc001ppp.5 The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. May be a signaling molecule that communicates mitogenic signals from the cytoplasm to the nucleus. Binds to the EGF and PDGF receptors. Binds to the elongation factor 1-alpha EF1A (By similarity). Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259. Cytoplasm. Nucleus, nucleolus. Note=Translocates to the nucleolus after treatment with mitogens. Belongs to the ZPR1 family. microtubule cytoskeleton organization inner cell mass cell proliferation trophectodermal cell proliferation protein binding nucleus nucleoplasm nucleolus cytoplasm mRNA processing signal transduction zinc ion binding RNA splicing positive regulation of gene expression Cajal body spinal cord development cell differentiation axon growth cone Cajal body organization receptor tyrosine kinase binding translation initiation factor binding regulation of myelination positive regulation of RNA splicing DNA endoreduplication positive regulation of protein import into nucleus cell projection neuronal cell body perikaryon positive regulation of growth metal ion binding perinuclear region of cytoplasm axon development cellular response to epidermal growth factor stimulus positive regulation of transcription involved in G1/S transition of mitotic cell cycle Gemini of coiled bodies apoptotic process involved in development pre-mRNA catabolic process negative regulation of motor neuron apoptotic process  uc001ppp.1 uc001ppp.2 uc001ppp.3 uc001ppp.4 uc001ppp.5 
ENST00000227348.9 CRTAM ENST00000227348.9 Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), transcript variant 1, mRNA. (from RefSeq NM_019604) CRTAM_HUMAN ENST00000227348.1 ENST00000227348.2 ENST00000227348.3 ENST00000227348.4 ENST00000227348.5 ENST00000227348.6 ENST00000227348.7 ENST00000227348.8 NM_019604 O95727 Q59EI1 Q6IRX2 uc001pyj.1 uc001pyj.2 uc001pyj.3 uc001pyj.4 uc001pyj.5 The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]. Interaction with CADM1 promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM3 in vivo. Interacts with CADM1. Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95727-1; Sequence=Displayed; Name=2; IsoId=O95727-2; Sequence=VSP_052471, VSP_052472; Note=No experimental confirmation available; In the immune system, expression is restricted to activated class-I MHC-restricted cells, including NKT and CD8 cells. Strongly expressed in spleen, thymus, small intestine, peripheral blood leukocyte, and in Purkinje neurons in cerebellum. Expressed at much lower levels in testis, ovary, colon, lung and lymphoid tissues. Belongs to the nectin family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=BAD93067.1; Type=Erroneous initiation; adaptive immune response detection of tumor cell immune system process positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target receptor binding protein binding plasma membrane cell recognition membrane integral component of membrane identical protein binding positive regulation of natural killer cell mediated cytotoxicity positive regulation of cytokine secretion regulation of immune response detection of stimulus T cell mediated cytotoxicity activated T cell proliferation  uc001pyj.1 uc001pyj.2 uc001pyj.3 uc001pyj.4 uc001pyj.5 
ENST00000227349.7 JHY ENST00000227349.7 Homo sapiens junctional cadherin complex regulator (JHY), transcript variant 1, mRNA. (from RefSeq NM_024806) A8K6G0 C11orf63 CK063_HUMAN ENST00000227349.1 ENST00000227349.2 ENST00000227349.3 ENST00000227349.4 ENST00000227349.5 ENST00000227349.6 NM_024806 Q6NUN7 Q96GB5 Q9H5D6 uc001pym.1 uc001pym.2 uc001pym.3 uc001pym.4 uc001pym.5 uc001pym.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NUN7-1; Sequence=Displayed; Name=2; IsoId=Q6NUN7-2; Sequence=VSP_023915, VSP_023916; Sequence=AAH09820.2; Type=Erroneous initiation; Sequence=BAB15691.1; Type=Erroneous initiation; brain development cell projection organization ciliary basal body organization cerebrospinal fluid secretion axoneme assembly  uc001pym.1 uc001pym.2 uc001pym.3 uc001pym.4 uc001pym.5 uc001pym.6 
ENST00000227378.7 HSPA8 ENST00000227378.7 heat shock protein family A (Hsp70) member 8 (from HGNC HSPA8) BC042163 ENST00000227378.1 ENST00000227378.2 ENST00000227378.3 ENST00000227378.4 ENST00000227378.5 ENST00000227378.6 V9HW22 uc058iot.1  uc058iot.1 
ENST00000227451.4 DTX4 ENST00000227451.4 Homo sapiens deltex E3 ubiquitin ligase 4 (DTX4), transcript variant 1, mRNA. (from RefSeq NM_015177) DTX4_HUMAN ENST00000227451.1 ENST00000227451.2 ENST00000227451.3 KIAA0937 NM_015177 Q0VF38 Q9Y2E6 RNF155 uc001nns.1 uc001nns.2 uc001nns.3 uc001nns.4 Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as an ubiquitin ligase protein in vivo, mediating 'Lys48'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4. Protein modification; protein ubiquitination. Interacts with NLRP4. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y2E6-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E6-2; Sequence=VSP_023784; The WWE domains are thought to mediate some protein- protein interaction, and are frequently found in ubiquitin ligases (By similarity). Belongs to the Deltex family. Contains 1 RING-type zinc finger. Contains 2 WWE domains. Sequence=BAA76781.1; Type=Erroneous initiation; ubiquitin-protein transferase activity cytoplasm cytosol Notch signaling pathway zinc ion binding protein ubiquitination transferase activity regulation of type I interferon production metal ion binding  uc001nns.1 uc001nns.2 uc001nns.3 uc001nns.4 
ENST00000227471.7 UNC93B1 ENST00000227471.7 Homo sapiens unc-93 homolog B1, TLR signaling regulator (UNC93B1), mRNA. (from RefSeq NM_030930) ENST00000227471.1 ENST00000227471.2 ENST00000227471.3 ENST00000227471.4 ENST00000227471.5 ENST00000227471.6 NM_030930 O95764 Q569H6 Q710D4 Q9H1C4 UN93B_HUMAN UNC93 UNC93B uc031xth.1 uc031xth.2 This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1053743.1, SRR3476690.884834.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227471.7/ ENSP00000227471.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays an important role in innate and adaptive immunity by regulating nucleotide-sensing Toll-like receptor (TLR) signaling. Required for the transport of a subset of TLRs (including TLR3, TLR7 and TLR9) from the endoplasmic reticulum to endolysosomes where they can engage pathogen nucleotides and activate signaling cascades. May play a role in autoreactive B- cells removal. Interacts with TLR3, TLR7, and TLR9 (probably via transmembrane domain) (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Endosome (By similarity). Lysosome (By similarity). Cytoplasmic vesicle, phagosome (By similarity). Note=Relocalizes from endoplasmic reticulum to endosome and lysosome upon cell-stimulation with CpG dinucleotides (By similarity). Colocalizes with LAMP5 in large endosomal intracellular vesicles. Expressed in plasmocytoid dendritic cells (at protein level). Highly expressed in antigen-presenting cells. Expressed in heart, and at lower level in kidney. Expressed at low level in other tissues. Up-regulated by TLRs agonists. N-glycosylated (By similarity). Defects in UNC93B1 are associated with herpes simplex encephalitis type 1 (HSE1) [MIM:610551]. HSE is a rare complication of human herpesvirus 1 (HHV-1) infection, occurring in only a small minority of HHV-1 infected individuals. HSE is characterized by hemorrhagic necrosis of parts of the temporal and frontal lobes. Onset is over several days and involves fever, headache, seizures, stupor, and often coma, frequently with a fatal outcome. Note=Mutations in UNC93B1 resulting in autosomal recessive UNC93B1 deficieny predispose otherwise healthy individuals to isolated herpes simplex encephalitis due to impaired IFNs production. UNC93B1 deficieny, however, does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Belongs to the unc-93 family. Sequence=AAD15416.1; Type=Erroneous gene model prediction; Name=UNC93B1base; Note=UNC93B1 mutation db; URL="http://bioinf.uta.fi/UNC93B1base/"; Golgi membrane toll-like receptor signaling pathway adaptive immune response immune system process protein binding lysosome endosome endoplasmic reticulum endoplasmic reticulum membrane intracellular protein transport membrane integral component of membrane cytoplasmic vesicle early phagosome toll-like receptor 3 signaling pathway toll-like receptor 7 signaling pathway toll-like receptor 9 signaling pathway Toll-like receptor binding innate immune response phagocytic vesicle defense response to virus  uc031xth.1 uc031xth.2 
ENST00000227474.8 PUS3 ENST00000227474.8 Homo sapiens pseudouridine synthase 3 (PUS3), transcript variant 1, mRNA. (from RefSeq NM_031307) B2RAM0 ENST00000227474.1 ENST00000227474.2 ENST00000227474.3 ENST00000227474.4 ENST00000227474.5 ENST00000227474.6 ENST00000227474.7 FKSG32 NM_031307 PUS3_HUMAN Q96D17 Q96J23 Q96NB4 Q9BZE2 uc001qcy.1 uc001qcy.2 uc001qcy.3 uc001qcy.4 The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]. Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs (By similarity). tRNA uridine(38/39) = tRNA pseudouridine(38/39). Nucleus (Potential). Belongs to the tRNA pseudouridine synthase TruA family. pseudouridine synthesis RNA binding nucleus cytoplasm cytosol tRNA modification tRNA processing RNA modification pseudouridine synthase activity isomerase activity tRNA pseudouridine synthesis mRNA pseudouridine synthesis  uc001qcy.1 uc001qcy.2 uc001qcy.3 uc001qcy.4 
ENST00000227495.10 ST3GAL4 ENST00000227495.10 Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 9, mRNA. (from RefSeq NM_001348400) ENST00000227495.1 ENST00000227495.2 ENST00000227495.3 ENST00000227495.4 ENST00000227495.5 ENST00000227495.6 ENST00000227495.7 ENST00000227495.8 ENST00000227495.9 NM_001348400 Q6IBE6 Q6IBE6_HUMAN SIAT4C hCG_37591 uc058izf.1 This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Golgi apparatus protein glycosylation sialyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups sialylation  uc058izf.1 
ENST00000227503.13 SF1 ENST00000227503.13 Homo sapiens splicing factor 1 (SF1), transcript variant 3, mRNA. (from RefSeq NM_201998) ENST00000227503.1 ENST00000227503.10 ENST00000227503.11 ENST00000227503.12 ENST00000227503.2 ENST00000227503.3 ENST00000227503.4 ENST00000227503.5 ENST00000227503.6 ENST00000227503.7 ENST00000227503.8 ENST00000227503.9 NM_201998 Q14818 Q14819 Q15637 Q15913 Q8IY00 Q92744 Q92745 Q969H7 Q9BW01 Q9UEI0 SF01_HUMAN ZFM1 ZNF162 uc001obc.1 uc001obc.2 uc001obc.3 This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3' splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.486146.1, SRR3476690.1040798.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor. Binds U2AF2. Interacts with U1 snRNA. Binds EWSR1, FUS and TAF15. Nucleus. Event=Alternative splicing; Named isoforms=6; Comment=Additional isoforms seem to exist; Name=1; Synonyms=SF1-HL1; IsoId=Q15637-1; Sequence=Displayed; Name=2; Synonyms=SF1-Bo, Bone; IsoId=Q15637-2; Sequence=VSP_008839; Name=3; Synonyms=ZFM1-A, ZFM1-ABCDEF; IsoId=Q15637-3; Sequence=VSP_008838; Name=4; Synonyms=ZFM1-B, ZFM1-ABCDF; IsoId=Q15637-4; Sequence=VSP_008835, VSP_008836; Name=5; IsoId=Q15637-5; Sequence=VSP_008833, VSP_008835; Note=No experimental confirmation available; Name=6; Synonyms=ZFM1-D, B6; IsoId=Q15637-6; Sequence=VSP_008834, VSP_008837; Note=Phosphorylated on Ser-463; Detected in lung, ovary, adrenal gland, colon, kidney, muscle, pancreas, thyroid, placenta, brain, liver and heart. Phosphorylation on Ser-20 interferes with U2AF2 binding and spliceosome assembly. Isoform 6 is phosphorylated on Ser-463. Belongs to the BBP/SF1 family. Contains 1 CCHC-type zinc finger. Contains 1 KH domain. Sequence=AAH00773.1; Type=Erroneous initiation; spliceosomal complex assembly mRNA 3'-splice site recognition mRNA splicing, via spliceosome nucleic acid binding transcription corepressor activity RNA binding protein binding nucleus nucleoplasm spliceosomal complex ribosome mRNA processing zinc ion binding RNA splicing nuclear body male sex determination nuclear body organization Leydig cell differentiation identical protein binding pre-mRNA branch point binding metal ion binding negative regulation of smooth muscle cell proliferation regulation of steroid biosynthetic process negative regulation of nucleic acid-templated transcription  uc001obc.1 uc001obc.2 uc001obc.3 
ENST00000227507.3 CCND1 ENST00000227507.3 Homo sapiens cyclin D1 (CCND1), mRNA. (from RefSeq NM_053056) ENST00000227507.1 ENST00000227507.2 NM_053056 Q6FI00 Q6FI00_HUMAN hCG_2016647 uc001opa.1 uc001opa.2 uc001opa.3 uc001opa.4 uc001opa.5 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC023620.2, X59798.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227507.3/ ENSP00000227507.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the cyclin family. regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter cyclin-dependent protein kinase holoenzyme complex re-entry into mitotic cell cycle liver development protein kinase activity nucleus nucleoplasm cytoplasm bicellular tight junction protein phosphorylation lactation positive regulation of cell proliferation response to organic substance response to iron ion response to X-ray response to organonitrogen compound response to organic cyclic compound Wnt signaling pathway kinase activity cyclin-dependent protein serine/threonine kinase regulator activity protein kinase binding negative regulation of epithelial cell differentiation endoplasmic reticulum unfolded protein response animal organ regeneration response to magnesium ion response to estradiol response to vitamin E Leydig cell differentiation mammary gland epithelial cell proliferation positive regulation of mammary gland epithelial cell proliferation response to drug response to estrogen macromolecular complex binding fat cell differentiation response to ethanol response to steroid hormone positive regulation of epithelial cell proliferation response to glucocorticoid response to corticosterone response to calcium ion regulation of cell cycle mammary gland alveolus development cellular response to organic substance liver regeneration regulation of G1/S transition of mitotic cell cycle  uc001opa.1 uc001opa.2 uc001opa.3 uc001opa.4 uc001opa.5 
ENST00000227520.10 CCDC86 ENST00000227520.10 Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA. (from RefSeq NM_024098) CCD86_HUMAN CYCLON ENST00000227520.1 ENST00000227520.2 ENST00000227520.3 ENST00000227520.4 ENST00000227520.5 ENST00000227520.6 ENST00000227520.7 ENST00000227520.8 ENST00000227520.9 NM_024098 Q9H6F5 uc001nqa.1 uc001nqa.2 uc001nqa.3 uc001nqa.4 Interacts with hepatitis C virus (HCV) protein NS5A. Nucleus (By similarity). RNA binding protein binding nucleus nucleolus viral process  uc001nqa.1 uc001nqa.2 uc001nqa.3 uc001nqa.4 
ENST00000227524.9 PRPF19 ENST00000227524.9 Homo sapiens pre-mRNA processing factor 19 (PRPF19), mRNA. (from RefSeq NM_014502) ENST00000227524.1 ENST00000227524.2 ENST00000227524.3 ENST00000227524.4 ENST00000227524.5 ENST00000227524.6 ENST00000227524.7 ENST00000227524.8 NMP200 NM_014502 PRP19 PRP19_HUMAN Q9UMS4 SNEV uc001nqf.1 uc001nqf.2 uc001nqf.3 uc001nqf.4 uc001nqf.5 PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1095229.1, SRR3476690.922188.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227524.9/ ENSP00000227524.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. Homooligomer. Identified in the spliceosome C complex. Component of the PSO4 complex, composed of PRPF19, CDC5L, PLRG1. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts in the complex directly with CDC5L, PLRG1 and BCAS2. Interacts with APEX1, DNTT and PSMB4. Nucleus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Nucleoplasmic in interphase cells. Irregularly distributed in anaphase cells. In prophase cells, uniformly distributed, but not associated with condensing chromosomes. Found in extrachromosomal regions in metaphase cells. Mainly localized to the mitotic spindle apparatus when chromosomes segregate during anaphase. When nuclei reform during late telophase, uniformly distributed in daughter cells and displays no preferred association with decondensing chromatin. Ubiquitous. Weakly expressed in senescent cells of different tissue origins. Highly expressed in tumor cell lines. By gamma irradiation and chemical mutagens but not by UV irradiation. Belongs to the WD repeat PRP19 family. Contains 1 U-box domain. Contains 7 WD repeats. protein polyubiquitination spliceosomal tri-snRNP complex assembly spliceosomal complex assembly generation of catalytic spliceosome for first transesterification step mRNA splicing, via spliceosome Prp19 complex inner cell mass cell proliferation ubiquitin-protein transferase activity protein binding nucleus nucleoplasm spliceosomal complex cytoplasm lipid particle spindle cytoskeleton DNA repair transcription-coupled nucleotide-excision repair double-strand break repair via nonhomologous end joining mRNA processing cellular response to DNA damage stimulus RNA splicing lipid biosynthetic process proteasomal protein catabolic process membrane protein ubiquitination nuclear speck transferase activity ubiquitin-ubiquitin ligase activity cellular protein localization site of double-strand break identical protein binding positive regulation of neuron differentiation positive regulation of mRNA splicing, via spliceosome positive regulation of astrocyte differentiation ubiquitin protein ligase activity protein K63-linked ubiquitination U2-type catalytic step 1 spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome signal transduction involved in DNA damage checkpoint DNA replication factor A complex  uc001nqf.1 uc001nqf.2 uc001nqf.3 uc001nqf.4 uc001nqf.5 
ENST00000227525.8 TMEM109 ENST00000227525.8 Homo sapiens transmembrane protein 109 (TMEM109), mRNA. (from RefSeq NM_024092) ENST00000227525.1 ENST00000227525.2 ENST00000227525.3 ENST00000227525.4 ENST00000227525.5 ENST00000227525.6 ENST00000227525.7 NM_024092 Q9BVC6 TM109_HUMAN uc001nqg.1 uc001nqg.2 uc001nqg.3 uc001nqg.4 uc001nqg.5 Nucleus outer membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum membrane; Multi- pass membrane protein (By similarity). Sarcoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). molecular_function voltage-gated ion channel activity nucleus nuclear outer membrane endoplasmic reticulum endoplasmic reticulum membrane ion transport membrane integral component of membrane sarcoplasmic reticulum sarcoplasmic reticulum membrane ion transmembrane transport regulation of ion transmembrane transport intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of cell death extracellular exosome cellular response to gamma radiation  uc001nqg.1 uc001nqg.2 uc001nqg.3 uc001nqg.4 uc001nqg.5 
ENST00000227618.9 ANAPC15 ENST00000227618.9 Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating to the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20. (from UniProt P60006) APC15_HUMAN C11orf51 ENST00000227618.1 ENST00000227618.2 ENST00000227618.3 ENST00000227618.4 ENST00000227618.5 ENST00000227618.6 ENST00000227618.7 ENST00000227618.8 G3V1Q3 HSPC020 NR_171685 P60006 Q9CXK2 Q9Y269 uc001orw.1 uc001orw.2 uc001orw.3 uc001orw.4 uc001orw.5 Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C: not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating to the responsiveness of the spindle assembly checkpoint. Also required for degradation of CDC20. The APC/C is composed of at least 12 subunits. Belongs to the APC15 family. Sequence=EAW74842.1; Type=Erroneous gene model prediction; intracellular nucleoplasm anaphase-promoting complex cytosol ubiquitin-dependent protein catabolic process cell cycle anaphase-promoting complex-dependent catabolic process cell division regulation of mitotic cell cycle spindle assembly checkpoint regulation of mitotic cell cycle phase transition  uc001orw.1 uc001orw.2 uc001orw.3 uc001orw.4 uc001orw.5 
ENST00000227638.8 PANX1 ENST00000227638.8 Homo sapiens pannexin 1 (PANX1), mRNA. (from RefSeq NM_015368) ENST00000227638.1 ENST00000227638.2 ENST00000227638.3 ENST00000227638.4 ENST00000227638.5 ENST00000227638.6 ENST00000227638.7 MRS1 NM_015368 O75968 PANX1_HUMAN Q543A0 Q6UW26 Q96AM9 Q96L77 Q96RD7 Q96RS5 UNQ2529/PRO6028 uc001per.1 uc001per.2 uc001per.3 uc001per.4 uc001per.5 The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.81357.1, SRR1660809.236064.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227638.8/ ENSP00000227638.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis. Homohexamer. Forms homomeric or PANX1/PANX2-heteromeric intercellular channels on coexpression in paired Xenopus oocytes (By similarity). Cell membrane; Multi-pass membrane protein (Potential). Cell junction, gap junction. Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96RD7-1; Sequence=Displayed; Name=2; IsoId=Q96RD7-2; Sequence=VSP_011476; Belongs to the pannexin family. Name=Wikipedia; Note=Pannexin entry; URL="http://en.wikipedia.org/wiki/Pannexin"; protease binding response to ischemia actin binding receptor binding gap junction channel activity calcium channel activity endoplasmic reticulum endoplasmic reticulum membrane plasma membrane gap junction ion transport cation transport calcium ion transport cell-cell signaling channel activity membrane integral component of membrane wide pore channel activity leak channel activity cell junction bleb macromolecular complex response to ATP protein hexamerization ion channel binding protein heterodimerization activity positive regulation of cytokine secretion positive regulation of interleukin-1 secretion positive regulation of interleukin-1 alpha secretion positive regulation of interleukin-1 beta secretion actin filament binding gap junction hemi-channel activity transmembrane transport calcium ion transmembrane transport scaffold protein binding  uc001per.1 uc001per.2 uc001per.3 uc001per.4 uc001per.5 
ENST00000227665.9 APOA5 ENST00000227665.9 Homo sapiens apolipoprotein A5 (APOA5), transcript variant 3, mRNA. (from RefSeq NM_001371904) APOA5_HUMAN B0YIV9 ENST00000227665.1 ENST00000227665.2 ENST00000227665.3 ENST00000227665.4 ENST00000227665.5 ENST00000227665.6 ENST00000227665.7 ENST00000227665.8 NM_001371904 Q3MIK6 Q6Q788 Q6UWK9 Q9UBJ3 RAP3 UNQ411/PRO773 uc058hqs.1 uc058hqs.2 The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.114462.1, DRR138515.775853.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227665.9/ ENSP00000227665.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Minor apolipoprotein mainly associated with HDL and to a lesser extent with VLDL. May also be associated with chylomicrons. Important determinant of plasma triglyceride (TG) levels by both being a potent stimulator of apo-CII lipoprotein lipase (LPL) TG hydrolysis and a inhibitor of the hepatic VLDL-TG production rate (without affecting the VLDL-apoB production rate) (By similarity). Activates poorly lecithin:cholesterol acyltransferase (LCAT) and does not enhance efflux of cholesterol from macrophages. Interacts with GPIHBP1. Secreted. Liver and plasma. Up-regulated by PPARA agonists, which are used clinically to lower serum TG (such as fibrates). Phosphorylation sites are present in the extracellular medium. Three common alleles are known: allele APOA5*1, APOA5*2 and APOA5*3. The APOA5*2 haplotype, which consists of 3 non-coding SNPs, is present in approximately 16% of Caucasians and is associated with increased plasma triglyceride concentrations. APOA5*3 haplotype is defined by the rare Ser-19-Trp substitution. Together, the APOA5*2 and APOA5*3 haplotypes are found in 25 to 50% of African Americans, Hispanics, and Caucasians. Defects in APOA5 are a cause of susceptibility to familial hypertriglyceridemia (FHTR)[MIM:145750].mFamilial hypertriglyceridemia is a common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Defects in APOA5 are a cause of hyperlipoproteinemia type 5 (HLPP5) [MIM:144650]. HLPP5 is characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A) [MIM:232200]. Induced in early phase of liver regeneration. Belongs to the apolipoprotein A1/A4/E family. It is uncertain whether Met-1 or Met-4 is the initiator. Sequence=AAF25661.1; Type=Erroneous initiation; Sequence=AAF25662.1; Type=Erroneous initiation; Sequence=AAQ89109.1; Type=Erroneous termination; Positions=275; Note=Translated as Gln; phospholipid binding extracellular region extracellular space endosome early endosome late endosome endoplasmic reticulum lumen Golgi apparatus triglyceride metabolic process cholesterol biosynthetic process lipid transport enzyme activator activity heparin binding lipid binding positive regulation of cholesterol esterification positive regulation of triglyceride catabolic process positive regulation of very-low-density lipoprotein particle remodeling cholesterol binding regulation of lipid metabolic process triglyceride catabolic process enzyme binding regulation of intestinal cholesterol absorption phosphatidylcholine binding cholesterol efflux phospholipid efflux very-low-density lipoprotein particle high-density lipoprotein particle triglyceride-rich lipoprotein particle remodeling very-low-density lipoprotein particle remodeling high-density lipoprotein particle assembly lipase binding lipoprotein metabolic process tissue regeneration chylomicron cholesterol homeostasis post-translational protein modification cellular protein metabolic process positive regulation of fatty acid biosynthetic process phosphatidylcholine metabolic process positive regulation of receptor-mediated endocytosis low-density lipoprotein particle receptor binding positive regulation of lipid catabolic process positive regulation of lipoprotein lipase activity acylglycerol homeostasis phosphatidylcholine-sterol O-acyltransferase activator activity lipase activator activity lipoprotein lipase activator activity lipoprotein particle receptor binding triglyceride homeostasis low-density lipoprotein particle  uc058hqs.1 uc058hqs.2 
ENST00000227667.8 APOC3 ENST00000227667.8 Homo sapiens apolipoprotein C3 (APOC3), mRNA. (from RefSeq NM_000040) APOC3_HUMAN ENST00000227667.1 ENST00000227667.2 ENST00000227667.3 ENST00000227667.4 ENST00000227667.5 ENST00000227667.6 ENST00000227667.7 NM_000040 P02656 Q08E83 Q6Q786 uc001ppt.1 uc001ppt.2 uc001ppt.3 This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027977.1, X01388.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000227667.8/ ENSP00000227667.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits lipoprotein lipase and hepatic lipase and decreases the uptake of lymph chylomicrons by hepatic cells. This suggests that it delays the catabolism of triglyceride-rich particles. Secreted. Constitutes 50% of the protein fraction of VLDL and 2% of that of HDL. Synthesized predominantly in liver and to a lesser degree in intestine. O-linked glycan consists of Gal-GalNAc disaccharide, further modified with up to 3 sialic acid residues. O-glycosylated on Thr- 94 with a core 1 or possibly core 8 glycan. Defects in APOC3 are the cause of hyperalphalipoproteinemia type 2 (HALP2) [MIM:614028]. HALP2 is a condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. Belongs to the apolipoprotein C3 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOC3"; retinoid metabolic process phospholipid binding extracellular region extracellular space early endosome lipid metabolic process triglyceride metabolic process lipid transport G-protein coupled receptor signaling pathway lipid binding negative regulation of triglyceride catabolic process negative regulation of very-low-density lipoprotein particle remodeling negative regulation of very-low-density lipoprotein particle clearance negative regulation of high-density lipoprotein particle clearance negative regulation of low-density lipoprotein particle clearance cholesterol binding lipid catabolic process triglyceride catabolic process enzyme regulator activity regulation of Cdc42 protein signal transduction cholesterol efflux phospholipid efflux very-low-density lipoprotein particle intermediate-density lipoprotein particle spherical high-density lipoprotein particle chylomicron remodeling high-density lipoprotein particle remodeling chylomicron assembly very-low-density lipoprotein particle assembly chylomicron remnant clearance lipoprotein metabolic process chylomicron cholesterol homeostasis reverse cholesterol transport negative regulation of fatty acid biosynthetic process negative regulation of lipid metabolic process negative regulation of receptor-mediated endocytosis negative regulation of lipid catabolic process negative regulation of lipoprotein lipase activity lipase inhibitor activity negative regulation of cholesterol import extracellular exosome triglyceride homeostasis high-density lipoprotein particle receptor binding  uc001ppt.1 uc001ppt.2 uc001ppt.3 
ENST00000227752.8 IL10RA ENST00000227752.8 Homo sapiens interleukin 10 receptor subunit alpha (IL10RA), transcript variant 1, mRNA. (from RefSeq NM_001558) A8K6I0 B0YJ27 ENST00000227752.1 ENST00000227752.2 ENST00000227752.3 ENST00000227752.4 ENST00000227752.5 ENST00000227752.6 ENST00000227752.7 I10R1_HUMAN IL10R NM_001558 Q13651 uc001prv.1 uc001prv.2 uc001prv.3 uc001prv.4 uc001prv.5 uc001prv.6 The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]. Receptor for IL10; binds IL10 with a high affinity. P03180:BCRF1 (xeno); NbExp=2; IntAct=EBI-1031656, EBI-1042167; Membrane; Single-pass type I membrane protein. Spleen, thymus, and PBMC. Weak expression in pancreas, skeletal muscle, brain, heart, and kidney. Placenta, lung, and liver showed intermediate levels. Monocytes, B-cells, large granular lymphocytes, and T-cells express high levels. Defects in IL10RA are the cause of inflammatory bowel disease type 28 (IBD28) [MIM:613148]. It is a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Belongs to the type II cytokine receptor family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il10ra/"; cytokine receptor activity interleukin-10 receptor activity protein binding cytoplasm plasma membrane negative regulation of autophagy membrane integral component of membrane cytokine-mediated signaling pathway interleukin-10 binding response to lipopolysaccharide signaling receptor activity positive regulation of JAK-STAT cascade regulation of synapse organization ubiquitin-dependent endocytosis  uc001prv.1 uc001prv.2 uc001prv.3 uc001prv.4 uc001prv.5 uc001prv.6 
ENST00000227756.5 GALNT18 ENST00000227756.5 Homo sapiens polypeptide N-acetylgalactosaminyltransferase 18 (GALNT18), transcript variant 1, mRNA. (from RefSeq NM_198516) ENST00000227756.1 ENST00000227756.2 ENST00000227756.3 ENST00000227756.4 GALNTL4 GLTL4_HUMAN NM_198516 O95903 Q6P9A2 Q8NDY9 uc001mjo.1 uc001mjo.2 uc001mjo.3 uc001mjo.4 May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor (By similarity). UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. Manganese (By similarity). Calcium (By similarity). Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P9A2-1; Sequence=Displayed; Name=2; IsoId=Q6P9A2-2; Sequence=VSP_011234, VSP_011235; Note=No experimental confirmation available; There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding (By similarity). The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity (By similarity). Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Contains 1 ricin B-type lectin domain. Sequence=AAD20062.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane polypeptide N-acetylgalactosaminyltransferase activity cellular_component Golgi apparatus protein glycosylation protein O-linked glycosylation membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups carbohydrate binding metal ion binding  uc001mjo.1 uc001mjo.2 uc001mjo.3 uc001mjo.4 
ENST00000227758.7 BIRC2 ENST00000227758.7 Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), transcript variant 1, mRNA. (from RefSeq NM_001166) API1 BIRC2_HUMAN ENST00000227758.1 ENST00000227758.2 ENST00000227758.3 ENST00000227758.4 ENST00000227758.5 ENST00000227758.6 IAP2 MIHB NM_001166 Q13490 Q16516 Q4TTG0 RNF48 uc001pgy.1 uc001pgy.2 uc001pgy.3 uc001pgy.4 uc001pgy.5 uc001pgy.6 The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin- protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin- protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, TRAF2, DIABLO/SMAC, MAP3K14/NIK, MAP3K5/ASK1, IKBKG/NEMO and MXD1/MAD1. Can also function as an E3 ubiquitin- protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Can stimulate the transcriptional activity of E2F1. Plays a role in the modulation of the cell cycle. The CARD domain inhibits the activation of E3 ubiquitin ligase activity by preventing RING domain dimerization and E2 ubiquitin donor binding and activation. The CARD domain- mediated autoinhibition of the E3 ubiquitin-protein ligase activity suppresses cell proliferation and migration. USP19 regulates the stability of BIRC2/c-IAP1 by preventing its ubiquitination. Interacts with DIABLO/SMAC and with PRSS25; these interactions inhibit apoptotic suppressor activity. Interacts with CASP9. Interacts (via BIR domains) with TRAF2. Interacts with E2F1, RIPK1, RIPK2, RIPK3, RIPK4, BIRC5/survivin and USP19. P55210:CASP7; NbExp=2; IntAct=EBI-514538, EBI-523958; Q9NR28:DIABLO; NbExp=4; IntAct=EBI-514538, EBI-517508; Q13546:RIPK1; NbExp=3; IntAct=EBI-514538, EBI-358507; O43353:RIPK2; NbExp=3; IntAct=EBI-514538, EBI-358522; Q9Y572:RIPK3; NbExp=3; IntAct=EBI-514538, EBI-298250; P57078:RIPK4; NbExp=3; IntAct=EBI-514538, EBI-4422308; Q9NP84:TNFRSF12A; NbExp=2; IntAct=EBI-514538, EBI-2851995; Q12933:TRAF2; NbExp=8; IntAct=EBI-514538, EBI-355744; Cytoplasm. Nucleus. Note=Agents that induce either the extrinsic or intrinsic apoptotic pathways promote its redistribution from the nuclear compartment to the cytoplasmic compartment. Associated with the midbody in telophase cells, and found diffusely in the nucleus of interphase cells. Present in many fetal and adult tissues. Mainly expressed in adult skeletal muscle, thymus, testis, ovary, and pancreas, low or absent in brain and peripheral blood leukocytes. The BIR domains mediate nuclear localization. The CARD domain is necessary to stabilize the protein and inhibit the activation of E3 ubiquitin-protein ligase activity of BIRC2/c-IAP1 by preventing RING domain dimerization and E2 ubiquitin donor binding and activation. Auto-ubiquitinated and degraded by the proteasome in apoptotic cells. Belongs to the IAP family. Contains 3 BIR repeats. Contains 1 CARD domain. Contains 1 RING-type zinc finger. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/birc2/"; protein polyubiquitination response to hypoxia XY body placenta development MyD88-independent toll-like receptor signaling pathway transcription coactivator activity ubiquitin-protein transferase activity protein binding nucleus cytoplasm cytosol apoptotic process cell surface receptor signaling pathway I-kappaB kinase/NF-kappaB signaling zinc ion binding cytoplasmic side of plasma membrane response to organonitrogen compound regulation of tumor necrosis factor-mediated signaling pathway response to organic cyclic compound protein deubiquitination transferase activity positive regulation of protein ubiquitination macromolecular complex tumor necrosis factor-mediated signaling pathway regulation of toll-like receptor signaling pathway CD40 receptor complex TRIF-dependent toll-like receptor signaling pathway NIK/NF-kappaB signaling regulation of RIG-I signaling pathway regulation of cell proliferation identical protein binding regulation of apoptotic process cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling ubiquitin binding negative regulation of cysteine-type endopeptidase activity involved in apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process regulation of innate immune response membrane raft response to ethanol regulation of cell differentiation metal ion binding protein N-terminus binding regulation of inflammatory response chaperone binding protein heterooligomerization response to cAMP regulation of cell cycle regulation of necroptotic process negative regulation of necroptotic process ubiquitin protein ligase activity necroptotic process regulation of nucleotide-binding oligomerization domain containing signaling pathway cellular response to tumor necrosis factor FBXO family protein binding regulation of NIK/NF-kappaB signaling negative regulation of ripoptosome assembly involved in necroptotic process positive regulation of protein K63-linked ubiquitination positive regulation of protein K48-linked ubiquitination positive regulation of protein monoubiquitination positive regulation of protein polyubiquitination positive regulation of nucleic acid-templated transcription inhibition of cysteine-type endopeptidase activity involved in apoptotic process regulation of cysteine-type endopeptidase activity regulation of reactive oxygen species metabolic process  uc001pgy.1 uc001pgy.2 uc001pgy.3 uc001pgy.4 uc001pgy.5 uc001pgy.6 
ENST00000227868.9 PDHX ENST00000227868.9 Homo sapiens pyruvate dehydrogenase complex component X (PDHX), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_003477) D3DR11 ENST00000227868.1 ENST00000227868.2 ENST00000227868.3 ENST00000227868.4 ENST00000227868.5 ENST00000227868.6 ENST00000227868.7 ENST00000227868.8 NM_003477 O00330 O60221 ODPX_HUMAN PDX1 Q96FV8 Q99783 uc001mvt.1 uc001mvt.2 uc001mvt.3 uc001mvt.4 uc001mvt.5 The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]. Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl- transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds. Mitochondrion matrix. Defects in PDHX are the cause of pyruvate dehydrogenase E3-binding protein deficiency (PDHXD) [MIM:245349]. Belongs to the 2-oxoacid dehydrogenase family. Contains 1 lipoyl-binding domain. protein binding mitochondrion mitochondrial matrix pyruvate metabolic process transferase activity, transferring acyl groups pyruvate dehydrogenase complex mitochondrial acetyl-CoA biosynthetic process from pyruvate pyruvate dehydrogenase (NAD+) activity  uc001mvt.1 uc001mvt.2 uc001mvt.3 uc001mvt.4 uc001mvt.5 
ENST00000227880.8 SLC15A3 ENST00000227880.8 Homo sapiens solute carrier family 15 member 3 (SLC15A3), transcript variant 1, mRNA. (from RefSeq NM_016582) ENST00000227880.1 ENST00000227880.2 ENST00000227880.3 ENST00000227880.4 ENST00000227880.5 ENST00000227880.6 ENST00000227880.7 NM_016582 OCTP PHT2 PTR3 Q8IY34 Q9P2X9 S15A3_HUMAN uc001nqn.1 uc001nqn.2 uc001nqn.3 uc001nqn.4 Proton oligopeptide cotransporter. Transports free histidine and certain di- and tripeptides (By similarity). Lysosome membrane; Multi-pass membrane protein. Belongs to the PTR2/POT transporter (TC 2.A.17) family. protein binding lysosome lysosomal membrane ion transport protein transport symporter activity peptide:proton symporter activity peptide transport membrane integral component of membrane transmembrane transporter activity oligopeptide transmembrane transport oligopeptide transmembrane transporter activity intracellular membrane-bounded organelle transmembrane transport hydrogen ion transmembrane transport peptide transmembrane transporter activity  uc001nqn.1 uc001nqn.2 uc001nqn.3 uc001nqn.4 
ENST00000227918.3 SCGB2A2 ENST00000227918.3 Homo sapiens secretoglobin family 2A member 2 (SCGB2A2), mRNA. (from RefSeq NM_002411) A1A522 ENST00000227918.1 ENST00000227918.2 MGB1 NM_002411 Q13296 Q86WH8 SG2A2_HUMAN UGB2 uc001ntc.1 uc001ntc.2 uc001ntc.3 uc001ntc.4 uc001ntc.5 uc001ntc.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13296-1; Sequence=Displayed; Name=2; IsoId=Q13296-2; Sequence=VSP_009122; Mammary gland specific. Over-expressed in breast cancer. Belongs to the secretoglobin family. Lipophilin subfamily. molecular_function protein binding cellular_component extracellular region extracellular space biological_process androgen receptor signaling pathway  uc001ntc.1 uc001ntc.2 uc001ntc.3 uc001ntc.4 uc001ntc.5 uc001ntc.6 
ENST00000228027.12 DGAT2 ENST00000228027.12 Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA. (from RefSeq NM_032564) A6ND76 DGAT2_HUMAN ENST00000228027.1 ENST00000228027.10 ENST00000228027.11 ENST00000228027.2 ENST00000228027.3 ENST00000228027.4 ENST00000228027.5 ENST00000228027.6 ENST00000228027.7 ENST00000228027.8 ENST00000228027.9 HMFN1045 NM_032564 Q5U810 Q68CL3 Q68DJ0 Q8NDB7 Q96BS0 Q96PD7 Q9BYE5 UNQ738/PRO1433 uc001oxa.1 uc001oxa.2 uc001oxa.3 uc001oxa.4 uc001oxa.5 This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT). Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol. Acyl-CoA + retinol = CoA + retinyl ester. Inhibited by niacin (By similarity). Glycerolipid metabolism; triacylglycerol biosynthesis. Forms multimeric complexes consisting of several DGAT2 subunits (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96PD7-1; Sequence=Displayed; Name=2; IsoId=Q96PD7-2; Sequence=VSP_020356; Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin. Belongs to the diacylglycerol acyltransferase family. Sequence=BAD38635.1; Type=Erroneous initiation; Sequence=CAD38961.1; Type=Erroneous initiation; 2-acylglycerol O-acyltransferase activity diacylglycerol O-acyltransferase activity cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane lipid particle glycerol metabolic process lipid metabolic process positive regulation of triglyceride biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups triglyceride biosynthetic process lipid storage integral component of endoplasmic reticulum membrane low-density lipoprotein particle clearance long-chain fatty-acyl-CoA metabolic process cellular triglyceride homeostasis acylglycerol acyl-chain remodeling retinol metabolic process cholesterol homeostasis protein homodimerization activity intracellular membrane-bounded organelle positive regulation of gluconeogenesis negative regulation of fatty acid oxidation diacylglycerol metabolic process perinuclear region of cytoplasm retinol O-fatty-acyltransferase activity regulation of lipoprotein metabolic process fatty acid homeostasis fat pad development cellular response to oleic acid regulation of cholesterol metabolic process regulation of plasma lipoprotein particle levels perinuclear endoplasmic reticulum membrane  uc001oxa.1 uc001oxa.2 uc001oxa.3 uc001oxa.4 uc001oxa.5 
ENST00000228136.9 C11orf58 ENST00000228136.9 Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA. (from RefSeq NM_014267) B2RD28 ENST00000228136.1 ENST00000228136.2 ENST00000228136.3 ENST00000228136.4 ENST00000228136.5 ENST00000228136.6 ENST00000228136.7 ENST00000228136.8 NM_014267 O00193 SMAP SMAP_HUMAN uc001mmk.1 uc001mmk.2 uc001mmk.3 uc001mmk.4 Belongs to the SMAP family. molecular_function cellular_component biological_process  uc001mmk.1 uc001mmk.2 uc001mmk.3 uc001mmk.4 
ENST00000228140.6 RPS13 ENST00000228140.6 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMX5) BC066322 ENST00000228140.1 ENST00000228140.2 ENST00000228140.3 ENST00000228140.4 ENST00000228140.5 J3KMX5 J3KMX5_HUMAN uc057zlj.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. structural constituent of ribosome ribosome translation  uc057zlj.1 
ENST00000228251.9 YBX3 ENST00000228251.9 Homo sapiens Y-box binding protein 3 (YBX3), transcript variant 1, mRNA. (from RefSeq NM_003651) B2RBW6 CSDA DBPA DBPA_HUMAN ENST00000228251.1 ENST00000228251.2 ENST00000228251.3 ENST00000228251.4 ENST00000228251.5 ENST00000228251.6 ENST00000228251.7 ENST00000228251.8 NM_003651 P16989 Q14121 Q969N6 Q96B76 uc001qyt.1 uc001qyt.2 uc001qyt.3 uc001qyt.4 uc001qyt.5 Binds to the GM-CSF promoter. Seems to act as a repressor. Binds also to full length mRNA and to short RNA sequences containing the consensus site 5'-UCCAUCA-3'. May have a role in translation repression (By similarity). Found in a mRNP complex with YBX2 (By similarity). Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=1; IsoId=P16989-1; Sequence=Displayed; Name=2; IsoId=P16989-2; Sequence=VSP_001135; Name=3; IsoId=P16989-3; Sequence=VSP_001136; Highly expressed in skeletal muscle and heart. Contains 1 CSD (cold-shock) domain. Sequence=AAA35749.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development nucleic acid binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity RNA binding mRNA 3'-UTR binding protein binding nucleus cytoplasm cytosol bicellular tight junction spermatogenesis male gonad development response to cold fertilization Rho GTPase binding negative regulation of apoptotic process positive regulation of organ growth perinuclear region of cytoplasm negative regulation of skeletal muscle tissue development negative regulation of necroptotic process 3'-UTR-mediated mRNA stabilization cellular response to tumor necrosis factor cellular hyperosmotic response negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress polysome binding positive regulation of cytoplasmic translation  uc001qyt.1 uc001qyt.2 uc001qyt.3 uc001qyt.4 uc001qyt.5 
ENST00000228264.10 DDX11 ENST00000228264.10 Homo sapiens DEAD/H-box helicase 11 (DDX11), transcript variant 5, mRNA. (from RefSeq NM_001257145) CHL1 CHLR1 DDX11_HUMAN ENST00000228264.1 ENST00000228264.2 ENST00000228264.3 ENST00000228264.4 ENST00000228264.5 ENST00000228264.6 ENST00000228264.7 ENST00000228264.8 ENST00000228264.9 KRG2 NM_001257145 Q13333 Q86VQ4 Q86W62 Q92498 Q92770 Q92998 Q92999 Q96FC9 uc001rjw.1 uc001rjw.2 uc001rjw.3 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]. DNA helicase involved in cellular proliferation. Possesses DNA-dependent ATPase and helicase activities. This helicase translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a lesser extent, dATP. Its unwinding activity requires a 5'-single-stranded region for helicase loading, since flush-ended duplex structures do not support unwinding. The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended to 500 bp by RPA or the cohesion establishment factor, the Ctf18-RFC (replication factor C) complex activities. Stimulates the flap endonuclease activity of FEN1. Required for normal sister chromatid cohesion. Required for recruitment of bovine papillomavirus type 1 regulatory protein E2 to mitotic chrmosomes and for viral genome maintenance. Required for maintaining the chromosome segregation and is essential for embryonic development and the prevention of aneuploidy. May function during either S, G2, or M phase of the cell cycle. Binds to both single- and double-stranded DNA. ATP + H(2)O = ADP + phosphate. Binds 1 4Fe-4S cluster (By similarity). Helicase shows maximal activity with magnesium ions at low concentrations (0.5-1mM) whereas is markedly inhibited at higher levels (5 mM and above). Stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate. The ATPase activity is stimulated by high salt levels (up to a 0.1 M) and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts. Interacts with the CTF18-RFC complex, PCNA and FEN1. Forms a complex with RAD21, SMC1 and SMC3. Interacts with bovine papillomavirus type 1 regulatory protein E2. Nucleus. Nucleus, nucleolus. Note=During the early stages of mitosis, localizes to condensed chromatin and is released from the chromatin with progression to metaphase. Also localizes to the spindle poles throughout mitosis and at the midbody at later stages of mitosis (metaphase to telophase). Co- localizes with bovine papillomavirus type 1 regulatory protein E2 at early stages of mitosis. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q96FC9-1; Sequence=Displayed; Name=2; IsoId=Q96FC9-2; Sequence=VSP_016864, VSP_016865; Name=3; IsoId=Q96FC9-3; Sequence=VSP_016860, VSP_016864, VSP_016865; Name=4; IsoId=Q96FC9-4; Sequence=VSP_016863, VSP_016864, VSP_016865; Name=5; IsoId=Q96FC9-5; Sequence=VSP_016861, VSP_016862; Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine, and pancreas. Very low expression seen in the brain. Expressed in dividing cells and/or cells undergoing high levels of recombination. No expression is seen in cells signaled to terminally differentiate. Expressed in keratinocyte growth factor-stimulated cells but not in serum, EGF and IL1-beta-treated keratinocytes. Defects in DDX11 are the cause of Warsaw breakage syndrome (WBRS) [MIM:613398]. It is a syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. Belongs to the DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily. Contains 1 helicase ATP-binding domain. Sequence=CAA67895.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA67895.1; Type=Frameshift; Positions=644, 648; nucleotide binding nuclear chromatin spindle pole fibrillar center nucleic acid binding DNA binding DNA helicase activity chromatin binding DNA replication origin binding double-stranded DNA binding single-stranded DNA binding RNA binding single-stranded RNA binding helicase activity protein binding ATP binding nucleus nucleoplasm chromosome nucleolus cytoplasm centrosome microtubule organizing center cytoskeleton nucleobase-containing compound metabolic process DNA replication DNA repair cellular response to DNA damage stimulus sister chromatid cohesion multicellular organism development DNA-dependent ATPase activity RNA-dependent ATPase activity viral process hydrolase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides midbody replication fork processing positive regulation of endodeoxyribonuclease activity negative regulation of protein binding DNA duplex unwinding establishment of sister chromatid cohesion positive regulation of chromatin binding IRE1-mediated unfolded protein response G-quadruplex DNA unwinding triplex DNA binding positive regulation of sister chromatid cohesion metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding G-quadruplex DNA binding extracellular exosome cellular response to hydroxyurea cellular response to cisplatin positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter cellular response to bleomycin nucleolar chromatin organization positive regulation of double-strand break repair Ctf18 RFC-like complex mitotic cohesin complex  uc001rjw.1 uc001rjw.2 uc001rjw.3 
ENST00000228284.8 SART3 ENST00000228284.8 squamous cell carcinoma antigen recognized by T cells 3 (from HGNC SART3) A0A499FI31 AB020880 ENST00000228284.1 ENST00000228284.2 ENST00000228284.3 ENST00000228284.4 ENST00000228284.5 ENST00000228284.6 ENST00000228284.7 uc001tmz.1 uc001tmz.2 uc001tmz.3  uc001tmz.1 uc001tmz.2 uc001tmz.3 
ENST00000228289.9 ZNF268 ENST00000228289.9 May be involved in transcriptional regulation. (from UniProt Q14587) BC110542 ENST00000228289.1 ENST00000228289.2 ENST00000228289.3 ENST00000228289.4 ENST00000228289.5 ENST00000228289.6 ENST00000228289.7 ENST00000228289.8 Q14587 Q96RH4 Q9BZJ9 ZN268_HUMAN uc010tch.1 uc010tch.2 uc010tch.3 May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=A; Synonyms=ZNF268A; IsoId=Q14587-1; Sequence=Displayed; Name=B; Synonyms=ZNF268B; IsoId=Q14587-2; Sequence=VSP_006909; Highly expressed in 3- to 5-week-old embryos. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 24 C2H2-type zinc fingers. Contains 1 KRAB domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor activity, sequence-specific DNA binding positive regulation of protein phosphorylation nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated regulation of mitotic cell cycle positive regulation of cell proliferation negative regulation of cell proliferation actin cytoskeleton cell differentiation positive regulation of cell migration positive regulation of apoptotic process negative regulation of apoptotic process regulation of protein heterodimerization activity positive regulation of cell differentiation positive regulation of protein catabolic process positive regulation of transcription from RNA polymerase II promoter metal ion binding negative regulation of cell cycle arrest cellular response to tumor necrosis factor positive regulation of protein homodimerization activity positive regulation of NIK/NF-kappaB signaling  uc010tch.1 uc010tch.2 uc010tch.3 
ENST00000228306.8 RPLP0 ENST00000228306.8 Ribosomal protein P0 is the functional equivalent of E.coli protein L10. (from UniProt P05388) AK001313 ENST00000228306.1 ENST00000228306.2 ENST00000228306.3 ENST00000228306.4 ENST00000228306.5 ENST00000228306.6 ENST00000228306.7 P05388 Q9BVK4 RLA0_HUMAN uc001txp.1 uc001txp.2 uc001txp.3 uc001txp.4 Ribosomal protein P0 is the functional equivalent of E.coli protein L10. P0 forms a pentameric complex by interaction with dimers of P1 and P2. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with Lassa virus Z protein. Interacts with APEX1. O95793:STAU1; NbExp=4; IntAct=EBI-354101, EBI-358174; Nucleus. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Belongs to the ribosomal protein L10P family. ribosomal large subunit assembly nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding nucleus cytoplasm endoplasmic reticulum cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane postsynaptic density membrane viral transcription cytosolic large ribosomal subunit interleukin-12-mediated signaling pathway cytoplasmic ribonucleoprotein granule ribosome biogenesis extracellular exosome large ribosomal subunit rRNA binding postsynapse ribonucleoprotein complex  uc001txp.1 uc001txp.2 uc001txp.3 uc001txp.4 
ENST00000228307.11 PXN ENST00000228307.11 Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). (from UniProt P49023) B2RAI3 B7ZMB4 ENST00000228307.1 ENST00000228307.10 ENST00000228307.2 ENST00000228307.3 ENST00000228307.4 ENST00000228307.5 ENST00000228307.6 ENST00000228307.7 ENST00000228307.8 ENST00000228307.9 NM_001385989 O14970 O14971 O60360 P49023 PAXI_HUMAN Q5HYA4 uc001txt.1 uc001txt.2 uc001txt.3 uc001txt.4 Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Binds in vitro to vinculin as well as to the SH3 domain of SRC and, when tyrosine phosphorylated, to the SH2 domain of V- CRK. Isoform beta binds to PTK2/FAK1 but weakly to vinculin. Isoform gamma binds to vinculin but only weakly to PTK2/FAK1. Interacts with GIT1, NUDT16L1/SDOS, PARVA and TGFB1I1. Component of cytoplasmic complexes, which also contain GIT1, ARHGEF6 and PAK1 (By similarity). Interacts with PTK2/FAK1 and PTK2B/PYK2. Binds ASAP2. Interacts with unphosphorylated ITGA4. Interacts with RNF5 and PDCD10. Interacts with NEK3 and this interaction is prolactin-dependent. Interacts with PTK6. P13612:ITGA4; NbExp=3; IntAct=EBI-702209, EBI-703044; P05556-1:ITGB1; NbExp=2; IntAct=EBI-702209, EBI-6082935; Q05397:PTK2; NbExp=13; IntAct=EBI-702209, EBI-702142; Q09463:rnf-5 (xeno); NbExp=2; IntAct=EBI-702209, EBI-963421; Q99942:RNF5; NbExp=6; IntAct=EBI-702209, EBI-348482; Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cytoplasm, cell cortex (By similarity). Note=Colocalizes with integrins at the cell periphery (By similarity). Event=Alternative splicing; Named isoforms=4; Name=Beta; IsoId=P49023-1; Sequence=Displayed; Name=Alpha; IsoId=P49023-2; Sequence=VSP_003114; Name=Gamma; IsoId=P49023-3; Sequence=VSP_003115; Name=4; IsoId=P49023-4; Sequence=VSP_040483, VSP_003114; Phosphorylated by MAPK1/ERK2 (By similarity). Phosphorylated on tyrosine residues during integrin-mediated cell adhesion, embryonic development, fibroblast transformation and following stimulation of cells by mitogens. Phosphorylation at Ser-244 by CDK5 reduces its interaction with PTK2/FAK1 in matrix-cell focal adhesions (MCFA) during oligodendrocytes (OLs) differentiation. Phosphorylation at Tyr-31 and Tyr-118 by PTK6 promote the activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. Belongs to the paxillin family. Contains 4 LIM zinc-binding domains. stress fiber transcription cofactor activity integrin binding protein binding cytoplasm cytosol cytoskeleton microtubule associated complex plasma membrane adherens junction focal adhesion cell cortex muscle contraction cell adhesion signal transduction signal complex assembly transforming growth factor beta receptor signaling pathway beta-catenin binding vinculin binding protein kinase binding protein phosphatase binding lamellipodium cell junction ubiquitin protein ligase binding substrate adhesion-dependent cell spreading cellular response to reactive oxygen species neuropilin binding endothelial cell migration macromolecular complex binding metal ion binding vascular endothelial growth factor receptor signaling pathway positive regulation of stress fiber assembly growth hormone receptor signaling pathway response to peptide regulation of nucleic acid-templated transcription  uc001txt.1 uc001txt.2 uc001txt.3 uc001txt.4 
ENST00000228318.8 SLC25A3 ENST00000228318.8 Homo sapiens solute carrier family 25 member 3 (SLC25A3), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005888) B3KS34 ENST00000228318.1 ENST00000228318.2 ENST00000228318.3 ENST00000228318.4 ENST00000228318.5 ENST00000228318.6 ENST00000228318.7 MPCP_HUMAN NM_005888 OK/SW-cl.48 PHC Q00325 Q7Z7N7 Q96A03 uc001tfo.1 uc001tfo.2 uc001tfo.3 uc001tfo.4 uc001tfo.5 The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]. Transport of phosphate groups from the cytosol to the mitochondrial matrix. Phosphate is cotransported with H(+). Mitochondrion inner membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q00325-1; Sequence=Displayed; Name=B; IsoId=Q00325-2; Sequence=VSP_003269; Defects in SLC25A3 are a cause of mitochondrial phosphate carrier deficiency (MPCD) [MIM:610773]. MPCD is a fatal disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. inorganic phosphate transmembrane transporter activity mitochondrion mitochondrial inner membrane integral component of plasma membrane symporter activity phosphate:proton symporter activity membrane integral component of membrane integral component of mitochondrial inner membrane phosphate ion transmembrane transport macromolecular complex binding extracellular exosome hydrogen ion transmembrane transport  uc001tfo.1 uc001tfo.2 uc001tfo.3 uc001tfo.4 uc001tfo.5 
ENST00000228345.9 RAD52 ENST00000228345.9 RAD52 homolog, DNA repair protein (from HGNC RAD52) BC144458 ENST00000228345.1 ENST00000228345.2 ENST00000228345.3 ENST00000228345.4 ENST00000228345.5 ENST00000228345.6 ENST00000228345.7 ENST00000228345.8 uc058jqi.1  uc058jqi.1 
ENST00000228347.9 POLR3B ENST00000228347.9 Homo sapiens RNA polymerase III subunit B (POLR3B), transcript variant 1, mRNA. (from RefSeq NM_018082) A8K6H0 ENST00000228347.1 ENST00000228347.2 ENST00000228347.3 ENST00000228347.4 ENST00000228347.5 ENST00000228347.6 ENST00000228347.7 ENST00000228347.8 NM_018082 Q9NW08 Q9NW59 RPC2_HUMAN uc001tlp.1 uc001tlp.2 uc001tlp.3 uc001tlp.4 This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Second largest core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Proposed to contribute to the polymerase catalytic activity and forms the polymerase active center together with the largest subunit. Pol III is composed of mobile elements and RPC2 is part of the core element with the central large cleft and probably a clamp element that moves to open and close the cleft (By similarity). Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Nucleoside triphosphate + RNA(n) = diphosphate + RNA(n+1). Component of the RNA polymerase III (Pol III) complex consisting of 17 subunits (By similarity). Nucleus (By similarity). Defects in POLR3B are the cause of leukodystrophy, hypomyelinating, type 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381]. An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. Belongs to the RNA polymerase beta chain family. Sequence=BAA91527.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91581.1; Type=Erroneous initiation; Note=Translation N-terminally extended; immune system process DNA binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase III complex cytosol transcription, DNA-templated transcription from RNA polymerase III promoter transferase activity nucleotidyltransferase activity positive regulation of type I interferon production ribonucleoside binding positive regulation of interferon-beta production innate immune response positive regulation of innate immune response metal ion binding defense response to virus RNA polymerase III activity  uc001tlp.1 uc001tlp.2 uc001tlp.3 uc001tlp.4 
ENST00000228425.11 PPFIBP1 ENST00000228425.11 Homo sapiens PPFIA binding protein 1 (PPFIBP1), transcript variant 1, mRNA. (from RefSeq NM_003622) ENST00000228425.1 ENST00000228425.10 ENST00000228425.2 ENST00000228425.3 ENST00000228425.4 ENST00000228425.5 ENST00000228425.6 ENST00000228425.7 ENST00000228425.8 ENST00000228425.9 KIAA1230 LIPB1_HUMAN NM_003622 O75336 Q86W92 Q86X70 Q9NY03 Q9ULJ0 uc001rib.1 uc001rib.2 uc001rib.3 uc001rib.4 The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. Forms homodimers and heterodimers. Interacts with S100A4 in a calcium-dependent mode. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q86W92-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q86W92-2; Sequence=VSP_009397, VSP_009398, VSP_009399, VSP_009400; Note=No experimental confirmation available; Name=3; IsoId=Q86W92-3; Sequence=VSP_009394; Note=No experimental confirmation available; Name=4; IsoId=Q86W92-4; Sequence=VSP_009397; Note=No experimental confirmation available; Name=5; Synonyms=L2; IsoId=Q86W92-5; Sequence=VSP_009395, VSP_009396; Note=Due to intron retention; Widely expressed. Absent in liver. The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4. Belongs to the liprin family. Liprin-beta subfamily. Contains 3 SAM (sterile alpha motif) domains. Sequence=AAH46159.1; Type=Erroneous initiation; Sequence=BAA86544.2; Type=Erroneous initiation; cytosol plasma membrane focal adhesion cell adhesion cadherin binding  uc001rib.1 uc001rib.2 uc001rib.3 uc001rib.4 
ENST00000228434.7 CD69 ENST00000228434.7 Homo sapiens CD69 molecule (CD69), mRNA. (from RefSeq NM_001781) ENST00000228434.1 ENST00000228434.2 ENST00000228434.3 ENST00000228434.4 ENST00000228434.5 ENST00000228434.6 NM_001781 Q53ZX0 Q53ZX0_HUMAN hCG_38142 uc001qwk.1 uc001qwk.2 uc001qwk.3 This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007037.1, Z22576.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228434.7/ ENSP00000228434.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## calcium ion binding external side of plasma membrane cell surface membrane integral component of membrane carbohydrate binding cellular response to drug  uc001qwk.1 uc001qwk.2 uc001qwk.3 
ENST00000228437.10 PRDM4 ENST00000228437.10 Homo sapiens PR/SET domain 4 (PRDM4), mRNA. (from RefSeq NM_012406) ENST00000228437.1 ENST00000228437.2 ENST00000228437.3 ENST00000228437.4 ENST00000228437.5 ENST00000228437.6 ENST00000228437.7 ENST00000228437.8 ENST00000228437.9 NM_012406 PFM1 PRDM4_HUMAN Q9UFA6 Q9UKN5 uc001tmp.1 uc001tmp.2 uc001tmp.3 uc001tmp.4 uc001tmp.5 The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.39635.1, SRR1660807.82133.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228437.10/ ENSP00000228437.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May function as a transcription factor involved in cell differentiation. Nucleus (Potential). Expressed in many tissues. Highly expressed in ovary, testis, pancreas, brain, heart and prostate. Contains 6 C2H2-type zinc fingers. Contains 1 SET domain. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm transcription from RNA polymerase II promoter methyltransferase activity transferase activity chromatin DNA binding methylation histone methyltransferase complex sequence-specific DNA binding histone H4-R3 methylation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding histone methyltransferase binding  uc001tmp.1 uc001tmp.2 uc001tmp.3 uc001tmp.4 uc001tmp.5 
ENST00000228438.3 CLEC2B ENST00000228438.3 Homo sapiens C-type lectin domain family 2 member B (CLEC2B), mRNA. (from RefSeq NM_005127) AICL B2R9U1 CLC2B_HUMAN CLECSF2 ENST00000228438.1 ENST00000228438.2 IFNRG1 NM_005127 Q8IZE9 Q92478 Q9BS74 Q9UQB4 uc001qwn.1 uc001qwn.2 uc001qwn.3 uc001qwn.4 uc001qwn.5 This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.267603.1, SRR1803615.357743.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Single-pass type II membrane protein (Probable). Expressed preferentially in lymphoid tissues, and in most hematopoietic cell types. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=CD69 homolog; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_236"; plasma membrane integral component of plasma membrane membrane integral component of membrane carbohydrate binding identical protein binding regulation of immune response  uc001qwn.1 uc001qwn.2 uc001qwn.3 uc001qwn.4 uc001qwn.5 
ENST00000228463.6 SELPLG ENST00000228463.6 Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA. (from RefSeq NM_001206609) A8K2Y0 B4DQC3 ENST00000228463.1 ENST00000228463.2 ENST00000228463.3 ENST00000228463.4 ENST00000228463.5 NM_001206609 Q12775 Q14242 Q6GTW7 Q8N7J7 SELPL_HUMAN uc010sxe.1 uc010sxe.2 uc010sxe.3 This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]. A SLe(x)-type glycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. PSGL1 is critical for the initial leukocyte capture. Homodimer; disulfide-linked. Interaction with P-, E- and L-selectins, through their lectin/EGF domains, is required for promoting recruitment and rolling of leukocytes. These interactions require sialyl Lewis X glycan modification but there is a differing dependence for tyrosine sulfations. Sulfation on Tyr-51 of PSGL1 is most important for high affinity L- selectin/SELL binding while P-selectin/SELP requires sulfation on Tyr-48. E-selectin/SELE binds with much lower affinity and requires the sLe(x) epitope, but apparantly not tyrosine sulfation. Dimerization appears not to be required for P- selectin/SELP binding. Interacts with SNX20. Interacts with MSN and SYK; mediates the activation of SYK by SELPLG. Q7Z614:SNX20; NbExp=5; IntAct=EBI-1030190, EBI-744896; Membrane; Single-pass type I membrane protein. Expressed on neutrophils, monocytes and most lymphocytes. Displays complex, core-2, sialylated and fucosylated O-linked oligosaccharides, at least some of which appear to contain poly-N- acetyllactosamine with varying degrees of substitution. Mainly disialylated or neutral forms of the core-2 tetrasaccharide, Galbeta1-->4GlcNAcbeta1-->6(Galbeta1-->3)GalNAcOH. The GlcN:GalN ratio is approximately 2:1 and the Man:Fuc ratio 3:5. Contains about 14% fucose with alpha-1,3 linkage present in two forms: One species is a disialylated, monofucosylated glycan, and the other, a monosialylated, trifucosylated glycan with a polylactosamine backbone. The fucosylated forms carry the Lewis antigen and are important for interaction with selectins and for functioning in leukocyte rolling. The modification containing the sialyl Lewis X glycan is on Thr-57. No sulfated O-glycans. Some N-glycosylation. Sulfation, in conjunction with the SLe(x)-containing glycan, is necessary for P- and L-selectin binding. High affinity P- selectin binding has a preferred requirement for the isomer sulfated on both Tyr-48 and Tyr-51, whereas L-selectin binding requires predominantly sulfation on Tyr-51 with sulfation on Tyr- 48 playing only a minor role. These sulfations play an important role in L- and P-selectin-mediated neutrophil recruitment, and leukocyte rolling. Name=Wikipedia; Note=P-selectin glycoprotein ligand 1 entry; URL="http://en.wikipedia.org/wiki/P-selectin_glycoprotein_ligand-1"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/selplg/"; virus receptor activity uropod receptor binding protein binding plasma membrane integral component of plasma membrane cell adhesion membrane integral component of membrane viral process plasma membrane raft viral entry into host cell leukocyte migration leukocyte tethering or rolling leukocyte adhesive activation cellular response to interleukin-6  uc010sxe.1 uc010sxe.2 uc010sxe.3 
ENST00000228468.8 ASIC1 ENST00000228468.8 Homo sapiens acid sensing ion channel subunit 1 (ASIC1), transcript variant 1, mRNA. (from RefSeq NM_020039) A3KN86 ACCN2 ASIC1_HUMAN BNAC2 ENST00000228468.1 ENST00000228468.2 ENST00000228468.3 ENST00000228468.4 ENST00000228468.5 ENST00000228468.6 ENST00000228468.7 NM_020039 P78348 P78349 Q96CV2 uc001rvv.1 uc001rvv.2 uc001rvv.3 uc001rvv.4 uc001rvv.5 This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]. Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Ca(2+), Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Mediates glutamate-independent Ca(2+) entry into neurons upon acidosis. This Ca(2+) overloading is toxic for cortical neurons and may be in part responsible for ischemic brain injury. Heteromeric channel assembly seems to modulate channel properties. Functions as a postsynaptic proton receptor that influences intracellular Ca(2+) concentration and calmodulin-dependent protein kinase II phosphorylation and thereby the density of dendritic spines. Modulates activity in the circuits underlying innate fear (By similarity). Homotrimer or heterotrimer with other ASIC proteins (By similarity). Interacts with STOM and ASIC2 (By similarity). Interacts with PRKCABP. Q9NRD5:PICK1; NbExp=3; IntAct=EBI-79189, EBI-79165; Cell membrane; Multi-pass membrane protein (By similarity). Note=Localizes in synaptosomes at dendritic synapses of neurons. Colocalizes with DLG4 (By similarity). Event=Alternative splicing; Named isoforms=2; Comment=The splice variant from ASIC1a described in mouse and rat, which gives rise to an isoform with different N-termini (Asic1b), does not seem to exist in human; Name=2; Synonyms=Asic1a; IsoId=P78348-2; Sequence=Displayed; Name=1; IsoId=P78348-1; Sequence=VSP_015596; Expressed in most or all neurons. Phosphorylation by PKA regulates interaction with PRKCABP and subcellular location. Phosphorylation by PKC may regulate the channel. Potentiated by Ca(2+), Mg(2+), Ba(2+) and multivalent cations. Inhibited by anti-inflammatory drugs like salicylic acid (By similarity). Potentiated by FMRFamide-related neuropeptides. PH dependence may be regulated by serine proteases. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. ASIC1 subfamily. behavioral fear response response to amphetamine ion channel activity cation channel activity sodium channel activity protein binding Golgi apparatus plasma membrane integral component of plasma membrane ion transport cation transport sodium ion transport calcium ion transport signal transduction memory associative learning response to pH cell surface response to acidic pH ligand-gated sodium channel activity membrane integral component of membrane ion gated channel activity ion transmembrane transport sodium ion transmembrane transport regulation of membrane potential acid-sensing ion channel activity synapse negative regulation of neurotransmitter secretion sensory perception of sour taste protein homotrimerization calcium ion transmembrane transport cellular response to pH  uc001rvv.1 uc001rvv.2 uc001rvv.3 uc001rvv.4 uc001rvv.5 
ENST00000228476.8 DAO ENST00000228476.8 Homo sapiens D-amino acid oxidase (DAO), mRNA. (from RefSeq NM_001917) B2R7I5 DAMOX ENST00000228476.1 ENST00000228476.2 ENST00000228476.3 ENST00000228476.4 ENST00000228476.5 ENST00000228476.6 ENST00000228476.7 NM_001917 OXDA_HUMAN P14920 Q16758 Q8N6R2 uc001tnr.1 uc001tnr.2 uc001tnr.3 uc001tnr.4 uc001tnr.5 uc001tnr.6 This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.254102.1, SRR3476690.493112.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228476.8/ ENSP00000228476.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulates the level of the neuromodulator D-serine in the brain. Has high activity towards D-DOPA and contributes to dopamine synthesis. Could act as a detoxifying agent which removes D-amino acids accumulated during aging. Acts on a variety of D- amino acids with a preference for those having small hydrophobic side chains followed by those bearing polar, aromatic, and basic groups. Does not act on acidic amino acids. A D-amino acid + H(2)O + O(2) = a 2-oxo acid + NH(3) + H(2)O(2). FAD. Kinetic parameters: KM=3.6 mM for D-serine; KM=1.7 mM for D-proline; KM=1.1 mM for D-tyrosine; KM=1.5 mM for D-DOPA; KM=1.2 mM for D-phenylalanine; KM=0.9 mM for D-alanine; Homodimer. Peroxisome. Belongs to the DAMOX/DASOX family. D-amino-acid oxidase activity protein binding peroxisome peroxisomal membrane peroxisomal matrix cytosol proline catabolic process protein targeting to peroxisome oxidoreductase activity cellular nitrogen compound metabolic process D-serine catabolic process dopamine biosynthetic process D-amino acid metabolic process protein dimerization activity cofactor binding oxidation-reduction process D-alanine catabolic process D-serine metabolic process FAD binding mitochondrial outer membrane  uc001tnr.1 uc001tnr.2 uc001tnr.3 uc001tnr.4 uc001tnr.5 uc001tnr.6 
ENST00000228495.11 KCTD10 ENST00000228495.11 Homo sapiens potassium channel tetramerization domain containing 10 (KCTD10), transcript variant 5, non-coding RNA. (from RefSeq NR_133898) BACD3_HUMAN ENST00000228495.1 ENST00000228495.10 ENST00000228495.2 ENST00000228495.3 ENST00000228495.4 ENST00000228495.5 ENST00000228495.6 ENST00000228495.7 ENST00000228495.8 ENST00000228495.9 MSTP028 NR_133898 Q53HN2 Q59FV1 Q6PL47 Q96SU0 Q9H3F6 ULR061 uc001toi.1 uc001toi.2 uc001toi.3 The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. The BCR(BACURD3) E3 ubiquitin ligase complex mediates the ubiquitination of target proteins, leading to their degradation by the proteasome (By similarity). Protein modification; protein ubiquitination. Component of the BCR(BACURD3) E3 ubiquitin ligase complex, at least composed of CUL3, KCTD10/BACURD3 and RBX1. Interacts with DNA polymerase delta subunit 2/POLD2 (By similarity). Interacts with PCNA. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H3F6-1; Sequence=Displayed; Name=2; IsoId=Q9H3F6-2; Sequence=VSP_019980; Note=No experimental confirmation available; Name=3; IsoId=Q9H3F6-3; Sequence=VSP_019978, VSP_019979; Note=No experimental confirmation available; Belongs to the BACURD family. Contains 1 BTB (POZ) domain. Sequence=BAB55188.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD92595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Notch binding protein binding nucleus nucleoplasm cytosol ubiquitin-dependent protein catabolic process protein ubiquitination GTP-Rho binding Cul3-RING ubiquitin ligase complex negative regulation of Rho protein signal transduction proteasome-mediated ubiquitin-dependent protein catabolic process protein homooligomerization ubiquitin-protein transferase activity  uc001toi.1 uc001toi.2 uc001toi.3 
ENST00000228506.8 MLEC ENST00000228506.8 Homo sapiens malectin (MLEC), transcript variant 1, mRNA. (from RefSeq NM_014730) ENST00000228506.1 ENST00000228506.2 ENST00000228506.3 ENST00000228506.4 ENST00000228506.5 ENST00000228506.6 ENST00000228506.7 KIAA0152 MLEC_HUMAN NM_014730 Q14165 uc001tyy.1 uc001tyy.2 uc001tyy.3 This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Carbohydrate-binding protein with a strong ligand preference for Glc2-N-glycan. May play a role in the early steps of protein N-glycosylation (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Belongs to the malectin family. Sequence=BAA09773.2; Type=Erroneous initiation; endoplasmic reticulum endoplasmic reticulum membrane plasma membrane carbohydrate metabolic process protein folding membrane integral component of membrane enzyme binding carbohydrate binding specific granule membrane neutrophil degranulation  uc001tyy.1 uc001tyy.2 uc001tyy.3 
ENST00000228510.8 MVK ENST00000228510.8 Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA. (from RefSeq NM_001114185) ENST00000228510.1 ENST00000228510.2 ENST00000228510.3 ENST00000228510.4 ENST00000228510.5 ENST00000228510.6 ENST00000228510.7 KIME_HUMAN NM_001114185 Q03426 uc009zvk.1 uc009zvk.2 uc009zvk.3 uc009zvk.4 uc009zvk.5 This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]. May be a regulatory site in cholesterol biosynthetic pathway. ATP + (R)-mevalonate = ADP + (R)-5- phosphomevalonate. Farnesyl- and geranyl-pyrophosphates are competitive inhibitors. Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3. Homodimer. Self; NbExp=2; IntAct=EBI-740630, EBI-740630; Cytoplasm. Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:610377]. It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]. HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. Belongs to the GHMP kinase family. Mevalonate kinase subfamily. Sequence=CAA53059.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=3"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MVK"; nucleotide binding magnesium ion binding mevalonate kinase activity protein binding ATP binding cytoplasm peroxisome cytosol lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process steroid metabolic process cholesterol metabolic process isoprenoid biosynthetic process sterol biosynthetic process kinase activity phosphorylation transferase activity isopentenyl diphosphate biosynthetic process, mevalonate pathway identical protein binding regulation of cholesterol biosynthetic process metal ion binding negative regulation of inflammatory response  uc009zvk.1 uc009zvk.2 uc009zvk.3 uc009zvk.4 uc009zvk.5 
ENST00000228515.6 CSRNP2 ENST00000228515.6 Homo sapiens cysteine and serine rich nuclear protein 2 (CSRNP2), transcript variant 2, non-coding RNA. (from RefSeq NR_045072) C12orf22 CSRN2_HUMAN ENST00000228515.1 ENST00000228515.2 ENST00000228515.3 ENST00000228515.4 ENST00000228515.5 FAM130A1 NR_045072 Q9H175 TAIP12 uc001rxu.1 uc001rxu.2 uc001rxu.3 uc001rxu.4 The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]. Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity (By similarity). May play a role in apoptosis. P62136:PPP1CA; NbExp=2; IntAct=EBI-5235958, EBI-357253; Nucleus (By similarity). Belongs to the AXUD1 family. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus apoptotic process negative regulation of phosphatase activity phosphatase binding sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter  uc001rxu.1 uc001rxu.2 uc001rxu.3 uc001rxu.4 
ENST00000228534.6 IL23A ENST00000228534.6 Homo sapiens interleukin 23 subunit alpha (IL23A), mRNA. (from RefSeq NM_016584) ENST00000228534.1 ENST00000228534.2 ENST00000228534.3 ENST00000228534.4 ENST00000228534.5 IL23A_HUMAN NM_016584 Q6NZ80 Q6NZ82 Q9H2A5 Q9NPF7 SGRF UNQ2498/PRO5798 uc001sla.1 uc001sla.2 uc001sla.3 uc001sla.4 uc001sla.5 This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY359083.1, SRR1163658.347730.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228534.6/ ENSP00000228534.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Associates with IL12B to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak- Stat signaling cascade, stimulates memory rather than naive T- cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis. Heterodimer with IL12B; disulfide-linked. The heterodimer is known as interleukin IL-23. Secreted. Note=Secreted upon association with IL12B. Secreted by activated dendritic and phagocytic cells and keratinocytes. Also expressed by dermal Langerhans cells (at protein level). Expressed by newborns dendritic cells. Up-regulated by a wide array of pathogens and pathogen- products together with self-signals for danger or injury. Up- regulated in psoriatic dermal tissues, in dendritic cells of multiple sclerosis patients and in tumors. Belongs to the IL-6 superfamily. positive regulation of T cell mediated cytotoxicity positive regulation of defense response to virus by host immune system process positive regulation of T-helper 1 type immune response cytokine activity protein binding extracellular region extracellular space endoplasmic reticulum lumen inflammatory response immune response positive regulation of activation of Janus kinase activity cytokine-mediated signaling pathway negative regulation of interleukin-10 production positive regulation of granulocyte macrophage colony-stimulating factor production positive regulation of interferon-gamma production positive regulation of interleukin-10 production positive regulation of interleukin-12 production positive regulation of interleukin-17 production positive regulation of tumor necrosis factor production positive regulation of natural killer cell activation positive regulation of natural killer cell proliferation positive regulation of tissue remodeling interleukin-23-mediated signaling pathway T cell proliferation positive regulation of T cell proliferation positive regulation of activated T cell proliferation regulation of tyrosine phosphorylation of STAT protein positive regulation of tyrosine phosphorylation of STAT protein positive regulation of memory T cell differentiation innate immune response interleukin-23 receptor binding positive regulation of osteoclast differentiation positive regulation of transcription from RNA polymerase II promoter tissue remodeling positive regulation of inflammatory response defense response to Gram-negative bacterium positive regulation of NK T cell activation positive regulation of NK T cell proliferation defense response to virus interleukin-23 complex positive regulation of neutrophil chemotaxis positive regulation of NIK/NF-kappaB signaling positive regulation of T-helper 17 type immune response positive regulation of T-helper 17 cell lineage commitment  uc001sla.1 uc001sla.2 uc001sla.3 uc001sla.4 uc001sla.5 
ENST00000228567.7 SYT10 ENST00000228567.7 Homo sapiens synaptotagmin 10 (SYT10), mRNA. (from RefSeq NM_198992) ENST00000228567.1 ENST00000228567.2 ENST00000228567.3 ENST00000228567.4 ENST00000228567.5 ENST00000228567.6 NM_198992 Q495U2 Q6XYQ8 SYT10_HUMAN uc001rll.1 uc001rll.2 May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis (By similarity). Binds 3 calcium ions per subunit. The ions are bound to the C2 domains (By similarity). Homodimer. Can also form heterodimers with SYT6 (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein (By similarity). Expressed only in pancreas, lung and kidney. Belongs to the synaptotagmin family. Contains 2 C2 domains. SNARE binding phosphatidylserine binding calcium ion binding calcium-dependent phospholipid binding phosphatidylinositol-4,5-bisphosphate binding plasma membrane exocytosis chemical synaptic transmission sensory perception of smell regulation of dopamine secretion membrane integral component of membrane vesicle-mediated transport calcium ion regulated exocytosis regulation of calcium ion-dependent exocytosis syntaxin binding clathrin binding transport vesicle membrane cytoplasmic vesicle identical protein binding protein homodimerization activity positive regulation of calcium ion-dependent exocytosis metal ion binding protein heterodimerization activity exocytic vesicle cellular response to calcium ion presynapse synaptic vesicle exocytosis  uc001rll.1 uc001rll.2 
ENST00000228606.9 CYP27B1 ENST00000228606.9 Homo sapiens cytochrome P450 family 27 subfamily B member 1 (CYP27B1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000785) CP27B_HUMAN CYP1ALPHA CYP27B ENST00000228606.1 ENST00000228606.2 ENST00000228606.3 ENST00000228606.4 ENST00000228606.5 ENST00000228606.6 ENST00000228606.7 ENST00000228606.8 NM_000785 O15528 uc001spz.1 uc001spz.2 uc001spz.3 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB005038.1, AF020192.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145774 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000228606.9/ ENSP00000228606.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation. Calcidiol + NADPH + O(2) = calcitriol + NADP(+) + H(2)O. Heme group (By similarity). Hormone biosynthesis; cholecalciferol biosynthesis. Mitochondrion membrane. Kidney. Defects in CYP27B1 are the cause of rickets vitamin D- dependent type 1A (VDDR1A) [MIM:264700]; also known as pseudovitamin D deficiency rickets (PDDR). A disorder caused by a selective deficiency of the active form of vitamin D (1,25- dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. Belongs to the cytochrome P450 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP27B1"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp27b1/"; monooxygenase activity calcidiol 1-monooxygenase activity iron ion binding cytoplasm mitochondrion mitochondrial outer membrane vitamin metabolic process calcium ion transport negative regulation of cell proliferation negative regulation of calcidiol 1-monooxygenase activity positive regulation of vitamin D 24-hydroxylase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding bone mineralization negative regulation of cell growth regulation of bone mineralization mitochondrial membrane response to lipopolysaccharide response to vitamin D response to interferon-gamma calcitriol biosynthetic process from calciol vitamin D metabolic process vitamin D catabolic process response to estrogen positive regulation of keratinocyte differentiation decidualization metal ion binding calcium ion homeostasis oxidation-reduction process G1 to G0 transition positive regulation of vitamin D receptor signaling pathway  uc001spz.1 uc001spz.2 uc001spz.3 
ENST00000228641.4 MYF6 ENST00000228641.4 Homo sapiens myogenic factor 6 (MYF6), mRNA. (from RefSeq NM_002469) B2R898 BHLHC4 ENST00000228641.1 ENST00000228641.2 ENST00000228641.3 MRF4 MYF6_HUMAN NM_002469 P23409 Q53X80 Q6FHI9 uc001szf.1 uc001szf.2 uc001szf.3 uc001szf.4 The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279860.4145.1, ERR279848.597.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228641.4/ ENSP00000228641.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. Skeletal muscle. Defects in MYF6 may be a cause of centronuclear myopathy type 3 (CNM3) [MIM:614408]. A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding somitogenesis DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development muscle organ development skeletal muscle tissue development cell differentiation skeletal muscle cell differentiation muscle cell fate commitment skeletal muscle tissue regeneration positive regulation of myoblast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity positive regulation of skeletal muscle fiber development positive regulation of muscle cell differentiation muscle tissue morphogenesis RNA polymerase II transcription factor complex positive regulation of myoblast fusion E-box binding  uc001szf.1 uc001szf.2 uc001szf.3 uc001szf.4 
ENST00000228644.4 MYF5 ENST00000228644.4 Homo sapiens myogenic factor 5 (MYF5), mRNA. (from RefSeq NM_005593) BHLHC2 ENST00000228644.1 ENST00000228644.2 ENST00000228644.3 MYF5_HUMAN NM_005593 P13349 Q6ISR9 uc001szg.1 uc001szg.2 uc001szg.3 uc001szg.4 Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cartilage condensation ossification somitogenesis regulation of cell-matrix adhesion DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development muscle organ development skeletal muscle tissue development cell differentiation extracellular matrix organization skeletal muscle cell differentiation muscle cell fate commitment camera-type eye development sequence-specific DNA binding positive regulation of myoblast differentiation positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity muscle organ morphogenesis embryonic skeletal system morphogenesis positive regulation of skeletal muscle fiber development positive regulation of muscle cell differentiation muscle tissue morphogenesis RNA polymerase II transcription factor complex positive regulation of myoblast fusion E-box binding  uc001szg.1 uc001szg.2 uc001szg.3 uc001szg.4 
ENST00000228682.7 GLI1 ENST00000228682.7 Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. (from RefSeq NM_005269) D0EUY3 E9PQQ9 ENST00000228682.1 ENST00000228682.2 ENST00000228682.3 ENST00000228682.4 ENST00000228682.5 ENST00000228682.6 GLI GLI1_HUMAN NM_005269 P08151 Q8TDN9 uc001snx.1 uc001snx.2 uc001snx.3 uc001snx.4 uc001snx.5 This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]. Acts as a transcriptional activator. May regulate the transcription of specific genes during normal development. May play a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling and thus cell proliferation and differentiation. Interacts with KIF7 (By similarity). Interacts with ZIC1; the interaction enhances transcription activation. Q96J02:ITCH; NbExp=4; IntAct=EBI-308084, EBI-1564678; Q9QZS3-2:Numb (xeno); NbExp=4; IntAct=EBI-308084, EBI-3896014; P23443:RPS6KB1; NbExp=4; IntAct=EBI-308084, EBI-1775921; P23443-2:RPS6KB1; NbExp=2; IntAct=EBI-308084, EBI-6093204; Q9UMX1:SUFU; NbExp=5; IntAct=EBI-308084, EBI-740595; Q9UMX1-1:SUFU; NbExp=2; IntAct=EBI-308084, EBI-740615; Q9UMX1-2:SUFU; NbExp=4; IntAct=EBI-308084, EBI-740621; P46684:Zic1 (xeno); NbExp=2; IntAct=EBI-308084, EBI-308006; Cytoplasm. Nucleus. Note=Tethered in the cytoplasm by binding to SUFU. Activation and translocation to the nucleus is promoted by interaction with STK36. Phosphorylation by ULK3 may promote nuclear localization. Translocation to the nucleus is promoted by interaction with ZIC1. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08151-1; Sequence=Displayed; Name=2; IsoId=P08151-2; Sequence=VSP_042215; Note=Undetectable in normal cells but highly expressed in cancer cells; Testis, myometrium and fallopian tube. Also expressed in the brain with highest expression in the cerebellum, optic nerve and olfactory tract. Amplified in glioblastoma cells. Phosphorylated in vitro by ULK3. Acetylation at Lys-518 down-regulates transcriptional activity. Deacetylated by HDAC1. Belongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GLIID310ch12q13.html"; RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding osteoblast differentiation nucleic acid binding DNA binding chromatin binding protein binding nucleus nucleoplasm cytoplasm cytosol cilium axoneme smoothened signaling pathway multicellular organism development spermatogenesis ventral midline development microtubule binding positive regulation of cell proliferation regulation of smoothened signaling pathway response to wounding epidermal cell differentiation dorsal/ventral pattern formation proximal/distal pattern formation cerebellar cortex morphogenesis smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation pituitary gland development cell differentiation lung development positive regulation of cell migration prostate gland development sequence-specific DNA binding transcription regulatory region DNA binding regulation of osteoblast differentiation positive regulation of DNA replication positive regulation of smoothened signaling pathway positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding digestive tract morphogenesis notochord regression positive regulation of cardiac muscle cell proliferation canonical Wnt signaling pathway negative regulation of canonical Wnt signaling pathway liver regeneration ciliary tip ciliary base positive regulation of cell cycle G1/S phase transition regulation of hepatocyte proliferation  uc001snx.1 uc001snx.2 uc001snx.3 uc001snx.4 uc001snx.5 
ENST00000228705.7 PPM1H ENST00000228705.7 Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent 1H (PPM1H), mRNA. (from RefSeq NM_020700) ARHCL1 B1Q2A9 B2RXG4 ENST00000228705.1 ENST00000228705.2 ENST00000228705.3 ENST00000228705.4 ENST00000228705.5 ENST00000228705.6 KIAA1157 NM_020700 PPM1H_HUMAN Q6PI86 Q9ULR3 URCC2 uc001srk.1 uc001srk.2 uc001srk.3 uc001srk.4 uc001srk.5 uc001srk.6 A phosphoprotein + H(2)O = a protein + phosphate. Belongs to the PP2C family. Contains 1 PP2C-like domain. catalytic activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity [pyruvate dehydrogenase (lipoamide)] phosphatase activity nucleus nucleoplasm cytoplasm mitochondrion protein dephosphorylation hydrolase activity synapse glutamatergic synapse positive regulation of pyruvate dehydrogenase activity  uc001srk.1 uc001srk.2 uc001srk.3 uc001srk.4 uc001srk.5 uc001srk.6 
ENST00000228740.7 LTA4H ENST00000228740.7 Homo sapiens leukotriene A4 hydrolase (LTA4H), transcript variant 4, non-coding RNA. (from RefSeq NR_132659) B4DNQ9 ENST00000228740.1 ENST00000228740.2 ENST00000228740.3 ENST00000228740.4 ENST00000228740.5 ENST00000228740.6 LKHA4_HUMAN LTA4 NR_132659 P09960 Q6IAT6 Q9UCT7 uc001ten.1 uc001ten.2 uc001ten.3 uc001ten.4 The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Epoxide hydrolase that catalyzes the final step in the biosynthesis of the proinflammatory mediator leukotriene B4. Has also aminopeptidase activity. (7E,9E,11Z,14Z)-(5S,6S)-5,6-epoxyicosa- 7,9,11,14-tetraenoate + H(2)O = (6Z,8E,10E,14Z)-(5S,12R)-5,12- dihydroxyicosa-6,8,10,14-tetraenoate. Binds 1 zinc ion per subunit. Inhibited by bestatin. Subject to suicide inhibition by leukotriene A4, due to the formation of a covalent adduct at Tyr-379. Lipid metabolism; leukotriene B4 biosynthesis. Monomer. P01241:GH1; NbExp=1; IntAct=EBI-721089, EBI-1026046; P23508:MCC; NbExp=1; IntAct=EBI-721089, EBI-307531; Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=L-LTA4; IsoId=P09960-1; Sequence=Displayed; Name=2; Synonyms=S-LTA4; IsoId=P09960-2; Sequence=VSP_041108, VSP_041109; Name=3; IsoId=P09960-3; Sequence=VSP_041107, VSP_041108, VSP_041109; Isoform 1 and isoform 2 are expressed in monocytes, lymphocytes, neutrophils, reticulocytes, platelets and fibroblasts. Belongs to the peptidase M1 family. RNA binding aminopeptidase activity epoxide hydrolase activity leukotriene-A4 hydrolase activity protein binding extracellular region nucleus nucleoplasm cytoplasm cytosol proteolysis leukotriene metabolic process peptidase activity metallopeptidase activity zinc ion binding hydrolase activity leukotriene biosynthetic process long-chain fatty acid biosynthetic process peptide catabolic process neutrophil degranulation cellular lipid metabolic process cellular protein metabolic process metal ion binding metalloaminopeptidase activity extracellular exosome tertiary granule lumen ficolin-1-rich granule lumen  uc001ten.1 uc001ten.2 uc001ten.3 uc001ten.4 
ENST00000228741.8 ELK3 ENST00000228741.8 Homo sapiens ETS transcription factor ELK3 (ELK3), transcript variant 1, mRNA. (from RefSeq NM_005230) B2R6S6 ELK3_HUMAN ENST00000228741.1 ENST00000228741.2 ENST00000228741.3 ENST00000228741.4 ENST00000228741.5 ENST00000228741.6 ENST00000228741.7 NET NM_005230 P41970 Q6FG57 Q6GU29 Q9UD17 SAP2 uc001teo.1 uc001teo.2 uc001teo.3 This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element. Interacts with CTBP1. P16333:NCK1; NbExp=3; IntAct=EBI-1758534, EBI-389883; Nucleus. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm mitochondrion regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter signal transduction cell differentiation purine-rich negative regulatory element binding wound healing sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter  uc001teo.1 uc001teo.2 uc001teo.3 
ENST00000228799.7 ITFG2 ENST00000228799.7 Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), transcript variant 1, mRNA. (from RefSeq NM_018463) A8K4Z5 D3DUQ2 ENST00000228799.1 ENST00000228799.2 ENST00000228799.3 ENST00000228799.4 ENST00000228799.5 ENST00000228799.6 ITFG2_HUMAN NM_018463 Q969R8 Q96SX6 uc001qlb.1 uc001qlb.2 uc001qlb.3 uc001qlb.4 Contains 2 FG-GAP repeats. germinal center B cell differentiation nucleoplasm lysosome lysosomal membrane cytosol membrane cellular response to amino acid starvation cellular response to glucose starvation negative regulation of TORC1 signaling  uc001qlb.1 uc001qlb.2 uc001qlb.3 uc001qlb.4 
ENST00000228811.8 PRR4 ENST00000228811.8 Homo sapiens proline rich 4 (PRR4), transcript variant 2, mRNA. (from RefSeq NM_007244) A8KA69 ENST00000228811.1 ENST00000228811.2 ENST00000228811.3 ENST00000228811.4 ENST00000228811.5 ENST00000228811.6 ENST00000228811.7 LPRP NM_007244 PROL4 PROL4_HUMAN Q16378 Q8NFB3 uc001qyz.1 uc001qyz.2 uc001qyz.3 uc001qyz.4 uc001qyz.5 This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]. Secreted. Abundantly expressed in lacrimal gland where it is found in the acinar cells but not in the intralobular ducts. Also found in the submandibular gland, the parotid and sublingual glands. retina homeostasis extracellular region extracellular space visual perception  uc001qyz.1 uc001qyz.2 uc001qyz.3 uc001qyz.4 uc001qyz.5 
ENST00000228820.9 PARP11 ENST00000228820.9 Homo sapiens poly(ADP-ribose) polymerase family member 11 (PARP11), transcript variant 4, non-coding RNA. (from RefSeq NR_104461) B4DRQ0 C12orf6 ENST00000228820.1 ENST00000228820.2 ENST00000228820.3 ENST00000228820.4 ENST00000228820.5 ENST00000228820.6 ENST00000228820.7 ENST00000228820.8 NR_104461 PAR11_HUMAN Q68DS1 Q8N5Y9 Q9NR21 uc001qml.1 uc001qml.2 uc001qml.3 uc001qml.4 uc001qml.5 NAD(+) + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR21-1; Sequence=Displayed; Name=2; IsoId=Q9NR21-2; Sequence=VSP_022553, VSP_022554; Name=3; IsoId=Q9NR21-4; Sequence=VSP_040378; Contains 1 PARP catalytic domain. Contains 1 WWE domain. Sequence=AAH17569.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH31073.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; NAD+ ADP-ribosyltransferase activity nucleus nuclear envelope nuclear pore nuclear envelope organization spermatogenesis protein transport transferase activity transferase activity, transferring glycosyl groups cell differentiation mRNA transport protein auto-ADP-ribosylation protein ADP-ribosylase activity  uc001qml.1 uc001qml.2 uc001qml.3 uc001qml.4 uc001qml.5 
ENST00000228825.12 ARPC3 ENST00000228825.12 Homo sapiens actin related protein 2/3 complex subunit 3 (ARPC3), transcript variant 2, mRNA. (from RefSeq NM_001287222) ARC21 ARPC3_HUMAN ENST00000228825.1 ENST00000228825.10 ENST00000228825.11 ENST00000228825.2 ENST00000228825.3 ENST00000228825.4 ENST00000228825.5 ENST00000228825.6 ENST00000228825.7 ENST00000228825.8 ENST00000228825.9 NM_001287222 O00554 O15145 uc001tqq.1 uc001tqq.2 uc001tqq.3 uc001tqq.4 uc001tqq.5 uc001tqq.6 This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. Functions as component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. Component of the Arp2/3 complex composed of ARP2, ARP3, ARPC1B/p41-ARC, ARPC2/p34-ARC, ARPC3/p21-ARC, ARPC4/p20-ARC and ARPC5/p16-ARC. Cytoplasm, cytoskeleton. Cell projection. Belongs to the ARPC3 family. actin binding structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol cytoskeleton Arp2/3 protein complex focal adhesion actin cytoskeleton membrane lamellipodium regulation of actin filament polymerization cell leading edge filamentous actin Arp2/3 complex-mediated actin nucleation site of double-strand break Fc-gamma receptor signaling pathway involved in phagocytosis cell projection ephrin receptor signaling pathway membrane organization extracellular exosome actin polymerization-dependent cell motility cellular response to nerve growth factor stimulus actin filament binding  uc001tqq.1 uc001tqq.2 uc001tqq.3 uc001tqq.4 uc001tqq.5 uc001tqq.6 
ENST00000228827.8 GPN3 ENST00000228827.8 Homo sapiens GPN-loop GTPase 3 (GPN3), transcript variant 1, mRNA. (from RefSeq NM_016301) AD-009 ATPBD1C B2RC54 D4YWV1 ENST00000228827.1 ENST00000228827.2 ENST00000228827.3 ENST00000228827.4 ENST00000228827.5 ENST00000228827.6 ENST00000228827.7 GPN3_HUMAN NM_016301 Q53FS3 Q6UVZ6 Q7Z3D3 Q8NEI2 Q96HK9 Q9UHW5 UNQ1876/PRO4319 uc001tqr.1 uc001tqr.2 uc001tqr.3 uc001tqr.4 uc001tqr.5 Homodimer. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UHW5-1; Sequence=Displayed; Name=2; IsoId=Q9UHW5-2; Sequence=VSP_028125; Belongs to the GPN-loop GTPase family. Sequence=CAD97937.1; Type=Erroneous initiation; nucleotide binding GTPase activity protein binding GTP binding hydrolase activity macromolecular complex  uc001tqr.1 uc001tqr.2 uc001tqr.3 uc001tqr.4 uc001tqr.5 
ENST00000228837.3 FGF6 ENST00000228837.3 Homo sapiens fibroblast growth factor 6 (FGF6), mRNA. (from RefSeq NM_020996) ENST00000228837.1 ENST00000228837.2 FGF6_HUMAN HST2 HSTF2 NM_020996 P10767 Q0VAE1 uc001qmr.1 uc001qmr.2 uc001qmr.3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene displayed oncogenic transforming activity when transfected into mammalian cells. The mouse homolog of this gene exhibits a restricted expression profile predominantly in the myogenic lineage, which suggested a role in muscle regeneration or differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X63454.1, BC121097.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMN03465413 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration. Interacts with FGFR1, FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Secreted, extracellular space. Leukemia cell lines with platelet/ megakaryocytic differentiation potential. Belongs to the heparin-binding growth factors family. Sequence=CAA40359.1; Type=Erroneous initiation; Sequence=CAA40360.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf6/"; MAPK cascade cartilage condensation angiogenesis extracellular region extracellular space multicellular organism development growth factor activity positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway cell differentiation sarcolemma myoblast differentiation positive regulation of cell division positive regulation of protein kinase B signaling  uc001qmr.1 uc001qmr.2 uc001qmr.3 
ENST00000228841.15 MYL2 ENST00000228841.15 Homo sapiens myosin light chain 2 (MYL2), mRNA. (from RefSeq NM_000432) ENST00000228841.1 ENST00000228841.10 ENST00000228841.11 ENST00000228841.12 ENST00000228841.13 ENST00000228841.14 ENST00000228841.2 ENST00000228841.3 ENST00000228841.4 ENST00000228841.5 ENST00000228841.6 ENST00000228841.7 ENST00000228841.8 ENST00000228841.9 NM_000432 Q6IB42 Q6IB42_HUMAN hCG_40212 uc001try.1 uc001try.2 uc001try.3 uc001try.4 uc001try.5 uc001try.6 uc001try.7 Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC031008.1, BU193625.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228841.15/ ENSP00000228841.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## heart morphogenesis calcium ion binding heart development post-embryonic development myofibril muscle cell fate specification muscle fiber development cardiac myofibril assembly heart contraction cardiac muscle contraction positive regulation of the force of heart contraction  uc001try.1 uc001try.2 uc001try.3 uc001try.4 uc001try.5 uc001try.6 uc001try.7 
ENST00000228843.13 RAD51AP1 ENST00000228843.13 Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA. (from RefSeq NM_001130862) A8K7D3 ENST00000228843.1 ENST00000228843.10 ENST00000228843.11 ENST00000228843.12 ENST00000228843.2 ENST00000228843.3 ENST00000228843.4 ENST00000228843.5 ENST00000228843.6 ENST00000228843.7 ENST00000228843.8 ENST00000228843.9 NM_001130862 O43403 PIR51 Q7Z779 Q96B01 R51A1_HUMAN uc001qmw.1 uc001qmw.2 uc001qmw.3 uc001qmw.4 May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Functionally cooperates with PALB2 in promoting of D-loop formation by RAD51. Binds to single and double stranded DNA, and is capable of aggregating DNA. Also binds RNA. Isoform 2 interacts with RAD51. Interacts with PALB2. Q06609:RAD51; NbExp=4; IntAct=EBI-1178743, EBI-297202; Nucleus (By similarity). Note=Colocalizes with RAD51 to multiple nuclear foci (By similarity). Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q96B01-1; Sequence=Displayed; Name=2; IsoId=Q96B01-2; Sequence=VSP_051739; Name=3; IsoId=Q96B01-3; Sequence=VSP_051740; Highly expressed in testis and thymus. Lower levels in colon and small intestine. Little or no expression in spleen, prostate, ovary and peripheral blood leukocytes. Phosphorylated upon DNA damage, probably by ATM or ATR. double-strand break repair via homologous recombination nuclear chromatin DNA binding double-stranded DNA binding single-stranded DNA binding RNA binding protein binding nucleus nucleoplasm DNA repair DNA recombination cellular response to DNA damage stimulus regulation of double-strand break repair via homologous recombination macromolecular complex interstrand cross-link repair cellular response to ionizing radiation  uc001qmw.1 uc001qmw.2 uc001qmw.3 uc001qmw.4 
ENST00000228850.6 AKAP3 ENST00000228850.6 Homo sapiens A-kinase anchoring protein 3 (AKAP3), transcript variant 1, mRNA. (from RefSeq NM_001278309) ENST00000228850.1 ENST00000228850.2 ENST00000228850.3 ENST00000228850.4 ENST00000228850.5 NM_001278309 V9HWD4 uc001qnb.1 uc001qnb.2 uc001qnb.3 uc001qnb.4 uc001qnb.5 uc001qnb.6 uc001qnb.7 This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013].  uc001qnb.1 uc001qnb.2 uc001qnb.3 uc001qnb.4 uc001qnb.5 uc001qnb.6 uc001qnb.7 
ENST00000228862.3 DUSP16 ENST00000228862.3 Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2. (from UniProt Q9BY84) AF506796 DUS16_HUMAN ENST00000228862.1 ENST00000228862.2 KIAA1700 MKP7 Q547C7 Q9BY84 Q9C0G3 uc058lij.1 Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Interacts with ARRB2. Cytoplasm. Nucleus. Cytoplasmic vesicle. Note=After dissociation upon AGTR stimulation, re-associates with ARRB2 on endocytic vesicles. Phosphorylated at Ser-446 by MAPK1/ERK2, which prevents its degradation, and thereby stabilizes it and blocks JNK MAPK activity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. Sequence=BAB21791.1; Type=Erroneous initiation; inactivation of MAPK activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity nucleus nucleoplasm cytoplasm cytosol protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity cytoplasmic vesicle peptidyl-tyrosine dephosphorylation negative regulation of MAPK cascade MAPK export from nucleus MAPK phosphatase export from nucleus, leptomycin B sensitive  uc058lij.1 
ENST00000228865.3 CREBL2 ENST00000228865.3 Homo sapiens cAMP responsive element binding protein like 2 (CREBL2), mRNA. (from RefSeq NM_001310) B5BUM5 CRBL2_HUMAN ENST00000228865.1 ENST00000228865.2 NM_001310 O60519 uc001rap.1 uc001rap.2 uc001rap.3 uc001rap.4 cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor gene. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC106052.1, AF039081.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228865.3/ ENSP00000228865.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor. Interacts with CREB1; regulates CREB1 phosphorylation, stability and transcriptional activity (By similarity). Nucleus (By similarity). Phosphorylated by AMPK. Belongs to the bZIP family. ATF subfamily. Contains 1 bZIP (basic-leucine zipper) domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription, DNA-templated regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell cycle signal transduction cell differentiation positive regulation of peptidyl-serine phosphorylation positive regulation of fat cell differentiation positive regulation of transcription, DNA-templated positive regulation of glucose import positive regulation of lipid biosynthetic process protein stabilization  uc001rap.1 uc001rap.2 uc001rap.3 uc001rap.4 
ENST00000228872.9 CDKN1B ENST00000228872.9 Homo sapiens cyclin dependent kinase inhibitor 1B (CDKN1B), mRNA. (from RefSeq NM_004064) ENST00000228872.1 ENST00000228872.2 ENST00000228872.3 ENST00000228872.4 ENST00000228872.5 ENST00000228872.6 ENST00000228872.7 ENST00000228872.8 NM_004064 Q6I9V6 Q6I9V6_HUMAN hCG_27692 uc001rat.1 uc001rat.2 uc001rat.3 uc001rat.4 This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC001971.1, AY004255.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228872.9/ ENSP00000228872.4 RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 12837699 ##RefSeq-Attributes-END## G1/S transition of mitotic cell cycle response to hypoxia placenta development cyclin-dependent protein serine/threonine kinase inhibitor activity nucleus cytoplasm cytosol potassium ion transport cell cycle arrest regulation of exit from mitosis Notch signaling pathway heart development sensory perception of sound cell death positive regulation of cell proliferation negative regulation of cell proliferation response to glucose response to organic cyclic compound kinase activity phosphorylation cyclin binding Hsp70 protein binding positive regulation of microtubule polymerization response to estradiol macromolecular complex regulation of cell proliferation response to drug negative regulation of apoptotic process response to amino acid intracellular membrane-bounded organelle response to peptide hormone macromolecular complex binding negative regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of cyclin-dependent protein serine/threonine kinase activity response to cadmium ion inner ear development negative regulation of epithelial cell proliferation chaperone binding negative regulation of cellular component movement negative regulation of epithelial cell proliferation involved in prostate gland development cellular response to antibiotic cellular response to organic cyclic compound mitotic cell cycle arrest regulation of lens fiber cell differentiation negative regulation of cardiac muscle tissue regeneration  uc001rat.1 uc001rat.2 uc001rat.3 uc001rat.4 
ENST00000228887.6 GPRC5D ENST00000228887.6 Homo sapiens G protein-coupled receptor class C group 5 member D (GPRC5D), mRNA. (from RefSeq NM_018654) ENST00000228887.1 ENST00000228887.2 ENST00000228887.3 ENST00000228887.4 ENST00000228887.5 GPC5D_HUMAN NM_018654 Q3KNV3 Q7Z5J9 Q8TDS6 Q9NZD1 uc010shp.1 uc010shp.2 uc010shp.3 The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC069341.1, AF209923.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NZD1-1; Sequence=Displayed; Name=2; IsoId=Q9NZD1-2; Sequence=VSP_010006, VSP_010007; Name=3; IsoId=Q9NZD1-3; Sequence=VSP_010008; Widely expressed in the peripheral system. Expression pattern is high in pancreas, medium in kidney, small intestine, spleen and testis, low in lung, colon, leukocyte, prostate and thymus and not detectable in brain, heart, liver, placenta, skeletal muscle and ovary. Belongs to the G-protein coupled receptor 3 family. G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane integral component of membrane protein kinase activator activity activation of protein kinase activity intracellular membrane-bounded organelle receptor complex extracellular exosome  uc010shp.1 uc010shp.2 uc010shp.3 
ENST00000228916.7 SCNN1A ENST00000228916.7 Homo sapiens sodium channel epithelial 1 subunit alpha (SCNN1A), transcript variant 1, mRNA. (from RefSeq NM_001038) A5X2U9 B4E2Q5 C5HTZ0 ENST00000228916.1 ENST00000228916.2 ENST00000228916.3 ENST00000228916.4 ENST00000228916.5 ENST00000228916.6 NM_001038 O43271 P37088 Q6GSQ6 Q9UM64 SCNN1 SCNNA_HUMAN uc001qnx.1 uc001qnx.2 uc001qnx.3 uc001qnx.4 uc001qnx.5 Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]. Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. Activated by WNK1, WNK2, WNK3 and WNK4 (By similarity). Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. Interacts with the full length immature form of PCSK9 (pro-PCSK9). Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells. Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Alpha ENAC1; IsoId=P37088-1; Sequence=Displayed; Name=2; Synonyms=Alpha ENAC2; IsoId=P37088-2; Sequence=VSP_007719; Name=3; Synonyms=Alpha ENACx; IsoId=P37088-3; Sequence=VSP_007720, VSP_007721; Note=Does not give rise to amiloride-sensitive ion current; Name=4; Synonyms=Alpha ENAC-19; IsoId=P37088-4; Sequence=VSP_007722; Note=Amiloride-sensitive ion current is nearly abolished; Name=5; Synonyms=Alpha ENAC+22; IsoId=P37088-5; Sequence=VSP_007723; Note=Does not give rise to amiloride-sensitive ion current; Name=6; IsoId=P37088-6; Sequence=VSP_043667; Note=No experimental confirmation available; Highly expressed in kidney and lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart. By aldosterone. Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation (By similarity). ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Defects in SCNN1A are a cause of pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]. A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. Note=The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). Defects in SCNN1A are a cause of bronchiectasis with or without elevated sweat chloride type 2 (BESC2) [MIM:613021]; also called cystic fibrosis-like syndrome. BESC2 is a debilitating respiratory disease characterized by chronic abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include subnormal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily. Sequence=AAH06526.2; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCNN1A"; acrosomal vesicle sodium channel activity protein binding cytoplasm plasma membrane integral component of plasma membrane cilium ion transport sodium ion transport ligand-gated sodium channel activity membrane integral component of membrane apical plasma membrane cytoplasmic vesicle motile cilium ion transmembrane transport sodium channel complex sodium ion transmembrane transport cell projection WW domain binding multicellular organismal water homeostasis response to stimulus sensory perception of taste sodium ion homeostasis ciliary membrane extracellular exosome sperm principal piece  uc001qnx.1 uc001qnx.2 uc001qnx.3 uc001qnx.4 uc001qnx.5 
ENST00000228918.9 LTBR ENST00000228918.9 Homo sapiens lymphotoxin beta receptor (LTBR), transcript variant 1, mRNA. (from RefSeq NM_002342) D12S370 D3DUR2 ENST00000228918.1 ENST00000228918.2 ENST00000228918.3 ENST00000228918.4 ENST00000228918.5 ENST00000228918.6 ENST00000228918.7 ENST00000228918.8 NM_002342 P36941 TNFCR TNFR3 TNFRSF3 TNR3_HUMAN uc001qny.1 uc001qny.2 uc001qny.3 uc001qny.4 This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]. Receptor for the heterotrimeric lymphotoxin containing LTA and LTB, and for TNFS14/LIGHT. Promotes apoptosis via TRAF3 and TRAF5. May play a role in the development of lymphoid organs. Self-associates. Associates with TRAF3, TRAF4 and TRAF5. Interacts with HCV core protein. Self; NbExp=2; IntAct=EBI-3509981, EBI-3509981; Q15326:ZMYND11; NbExp=5; IntAct=EBI-3509981, EBI-2799565; Membrane; Single-pass type I membrane protein. Contains 4 TNFR-Cys repeats. protein binding Golgi apparatus plasma membrane apoptotic process immune response signal transduction membrane integral component of membrane viral process ubiquitin protein ligase binding tumor necrosis factor-mediated signaling pathway identical protein binding myeloid dendritic cell differentiation positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JNK cascade hematopoietic or lymphoid organ development cellular response to mechanical stimulus positive regulation of extrinsic apoptotic signaling pathway  uc001qny.1 uc001qny.2 uc001qny.3 uc001qny.4 
ENST00000228922.12 OGFOD2 ENST00000228922.12 Homo sapiens 2-oxoglutarate and iron dependent oxygenase domain containing 2 (OGFOD2), transcript variant 1, mRNA. (from RefSeq NM_001304833) B3KT24 ENST00000228922.1 ENST00000228922.10 ENST00000228922.11 ENST00000228922.2 ENST00000228922.3 ENST00000228922.4 ENST00000228922.5 ENST00000228922.6 ENST00000228922.7 ENST00000228922.8 ENST00000228922.9 NM_001304833 OGFD2_HUMAN Q4KN13 Q6N023 Q6N063 Q9H8K6 uc001uea.1 uc001uea.2 uc001uea.3 Binds 1 Fe(2+) ion per subunit (By similarity). Ascorbate (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6N063-1; Sequence=Displayed; Name=2; IsoId=Q6N063-2; Sequence=VSP_025856, VSP_025857; Name=3; IsoId=Q6N063-3; Sequence=VSP_025858, VSP_025859; Note=No experimental confirmation available; Name=4; IsoId=Q6N063-4; Sequence=VSP_025855; Belongs to the OGFOD2 family. Contains 1 Fe2OG dioxygenase domain. Sequence=CAE45849.1; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=CAE45849.1; Type=Frameshift; Positions=104; iron ion binding oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen L-ascorbic acid binding metal ion binding dioxygenase activity oxidation-reduction process  uc001uea.1 uc001uea.2 uc001uea.3 
ENST00000228928.12 OAS3 ENST00000228928.12 Homo sapiens 2'-5'-oligoadenylate synthetase 3 (OAS3), mRNA. (from RefSeq NM_006187) ENST00000228928.1 ENST00000228928.10 ENST00000228928.11 ENST00000228928.2 ENST00000228928.3 ENST00000228928.4 ENST00000228928.5 ENST00000228928.6 ENST00000228928.7 ENST00000228928.8 ENST00000228928.9 NM_006187 OAS3_HUMAN P/OKcl.4 Q2HJ14 Q9H3P5 Q9Y6K5 uc001tug.1 uc001tug.2 uc001tug.3 uc001tug.4 uc001tug.5 This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB044545.1, AF063613.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228928.12/ ENSP00000228928.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Synthesizes preferentially dimers of 2'-5'- oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV). Binds double-stranded RNA and polymerizes ATP into PPP(A2'P5'A)N oligomers, which activate the latent RNase L that, when activated, cleaves single-stranded RNAs. Magnesium (Potential). Produced as a latent enzyme which is activated by dsRNA generated during the course of viral infection. The dsRNA activator must be at least 15 nucleotides long, and no modification of the 2'-hydroxyl group is tolerated. ssRNA or dsDNA do not act as activators. Monomer. Q7L2E3:DHX30; NbExp=2; IntAct=EBI-6115729, EBI-1211456; P56537:EIF6; NbExp=2; IntAct=EBI-6115729, EBI-372243; Q8IY81:FTSJ3; NbExp=2; IntAct=EBI-6115729, EBI-744088; Q12894:IFRD2; NbExp=2; IntAct=EBI-6115729, EBI-6115935; Q7Z434:MAVS; NbExp=2; IntAct=EBI-6115729, EBI-995373; Cytoplasm. Nucleus. Present at high level in placenta trophoblast. By type I interferon (IFN) and viruses. Belongs to the 2-5A synthase family. Sequence=AAD28543.1; Type=Frameshift; Positions=394, 398; nucleotide binding 2'-5'-oligoadenylate synthetase activity immune system process RNA binding double-stranded RNA binding protein binding ATP binding extracellular space nucleus nucleoplasm cytoplasm cytosol plasma membrane nucleobase-containing compound metabolic process immune response response to virus transferase activity nucleotidyltransferase activity intracellular membrane-bounded organelle negative regulation of viral genome replication innate immune response metal ion binding defense response to virus interferon-gamma-mediated signaling pathway type I interferon signaling pathway regulation of ribonuclease activity  uc001tug.1 uc001tug.2 uc001tug.3 uc001tug.4 uc001tug.5 
ENST00000228936.6 ART4 ENST00000228936.6 Homo sapiens ADP-ribosyltransferase 4 (inactive) (Dombrock blood group) (ART4), transcript variant 1, mRNA. (from RefSeq NM_021071) DO DOK1 ENST00000228936.1 ENST00000228936.2 ENST00000228936.3 ENST00000228936.4 ENST00000228936.5 NAR4_HUMAN NM_021071 Q93070 Q9BZ50 Q9BZ51 Q9HB06 uc001rcl.1 uc001rcl.2 uc001rcl.3 uc001rcl.4 This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291662.1, AY829434.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000228936.6/ ENSP00000228936.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## NAD(+) + protein-L-arginine = nicotinamide + N(omega)-(ADP-D-ribosyl)-protein-L-arginine. NADP(+) + protein-L-arginine = nicotinamide + N(omega)-((2'-phospho-ADP)-D-ribosyl)-protein-L-arginine. Cell membrane; Lipid-anchor, GPI-anchor. Expressed in spleen and T-cells. DO is responsible for the Dombrock blood group system. The molecular basis of the Do(a)/Do(b) blood group antigen is a single variation in position 265; Asn-265 corresponds to Do(a) and Asp-265 to Do(b). It is also responsible for the antigens Gregory [Gy(a)], Holley [Hy] and Joseph [Jo(a)]. Belongs to the Arg-specific ADP-ribosyltransferase family. Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=dombrock"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/do/"; NAD+ ADP-ribosyltransferase activity NAD(P)+-protein-arginine ADP-ribosyltransferase activity extracellular region plasma membrane protein ADP-ribosylation arginine metabolic process membrane transferase activity transferase activity, transferring glycosyl groups peptidyl-arginine ADP-ribosylation anchored component of membrane  uc001rcl.1 uc001rcl.2 uc001rcl.3 uc001rcl.4 
ENST00000228938.5 MGP ENST00000228938.5 Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA. (from RefSeq NM_001190839) A0M8W5 B2R519 ENST00000228938.1 ENST00000228938.2 ENST00000228938.3 ENST00000228938.4 GIG36 MGLAP MGP_HUMAN NM_001190839 P08493 Q2TU41 Q567P9 Q6ICN5 uc021qvr.1 uc021qvr.2 This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]. Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation. Secreted. Requires vitamin K-dependent gamma-carboxylation for its function. Defects in MGP are the cause of Keutel syndrome (KS) [MIM:245150]. KS is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. Belongs to the osteocalcin/matrix Gla protein family. Contains 1 Gla (gamma-carboxy-glutamate) domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/mgp/"; cartilage condensation ossification extracellular matrix structural constituent calcium ion binding protein binding extracellular region multicellular organism development structural constituent of bone cell differentiation regulation of bone mineralization extracellular matrix cartilage development extracellular exosome  uc021qvr.1 uc021qvr.2 
ENST00000228945.9 ARHGDIB ENST00000228945.9 Homo sapiens Rho GDP dissociation inhibitor beta (ARHGDIB), transcript variant 3, mRNA. (from RefSeq NM_001321421) B5BU79 ENST00000228945.1 ENST00000228945.2 ENST00000228945.3 ENST00000228945.4 ENST00000228945.5 ENST00000228945.6 ENST00000228945.7 ENST00000228945.8 GDIA2 GDID4 GDIR2_HUMAN NM_001321421 P52566 RAP1GN1 uc001rcq.1 uc001rcq.2 uc001rcq.3 Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138524.471636.1, SRR1163658.204622.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Cytoplasm. Belongs to the Rho GDI family. GTPase activity Rho GDP-dissociation inhibitor activity GTPase activator activity protein binding cytoplasm cytosol cytoskeleton negative regulation of cell adhesion Rho protein signal transduction multicellular organism development membrane cytoplasmic vesicle regulation of Rho protein signal transduction positive regulation of GTPase activity Rac GTPase binding regulation of catalytic activity regulation of small GTPase mediated signal transduction extracellular exosome cellular response to redox state negative regulation of trophoblast cell migration regulation of actin cytoskeleton reorganization  uc001rcq.1 uc001rcq.2 uc001rcq.3 
ENST00000228955.11 GTF2H3 ENST00000228955.11 Homo sapiens general transcription factor IIH subunit 3 (GTF2H3), transcript variant 3, mRNA. (from RefSeq NM_001271867) B2R819 ENST00000228955.1 ENST00000228955.10 ENST00000228955.2 ENST00000228955.3 ENST00000228955.4 ENST00000228955.5 ENST00000228955.6 ENST00000228955.7 ENST00000228955.8 ENST00000228955.9 NM_001271867 Q13889 Q7L0G0 Q96AT7 TF2H3_HUMAN uc010tau.1 uc010tau.2 uc010tau.3 This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]. Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Anchors XPB. One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with RARA; the interaction requires prior phosphorylation of RARA on 'Ser-369' which then enhances interaction of RARA with CDK7 (By similarity). Nucleus. Belongs to the TFB4 family. Sequence=CAA82909.1; Type=Frameshift; Positions=302; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gtf2h3/"; core TFIIH complex portion of holo TFIIH complex core TFIIH complex nucleotide-excision repair, DNA duplex unwinding protein binding nucleus nucleoplasm transcription factor TFIID complex holo TFIIH complex DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion regulation of transcription, DNA-templated transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping cellular response to DNA damage stimulus obsolete general RNA polymerase II transcription factor activity nucleotide-excision repair, DNA incision metal ion binding protein N-terminus binding phosphorylation of RNA polymerase II C-terminal domain global genome nucleotide-excision repair transcriptional preinitiation complex protein kinase activity DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity  uc010tau.1 uc010tau.2 uc010tau.3 
ENST00000229002.6 RERGL ENST00000229002.6 Homo sapiens RERG like (RERGL), transcript variant 1, mRNA. (from RefSeq NM_024730) ENST00000229002.1 ENST00000229002.2 ENST00000229002.3 ENST00000229002.4 ENST00000229002.5 NM_024730 Q9H628 RERGL_HUMAN uc001rdq.1 uc001rdq.2 uc001rdq.3 uc001rdq.4 Binds GDP/GTP and may possess intrinsic GTPase activity (By similarity). Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity GTP binding signal transduction membrane  uc001rdq.1 uc001rdq.2 uc001rdq.3 uc001rdq.4 
ENST00000229003.7 ENDOU ENST00000229003.7 Homo sapiens endonuclease, poly(U) specific (ENDOU), transcript variant 2, mRNA. (from RefSeq NM_006025) B2RBJ3 B3KQS7 B7Z6E1 ENDOU_HUMAN ENST00000229003.1 ENST00000229003.2 ENST00000229003.3 ENST00000229003.4 ENST00000229003.5 ENST00000229003.6 NM_006025 P21128 Q2NKJ4 uc001rpt.1 uc001rpt.2 uc001rpt.3 This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was mischaracterized as a serine protease. In mouse, this gene promotes tolerance to self-antigens by regulating B cell activation-induced cell death (AICD). The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2020]. Endoribonuclease that cleaves single-stranded RNAs at uridylates and releases products that have 2'-3'-cyclic phosphate termini. Manganese. Monomer (By similarity). Secreted (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P21128-1; Sequence=Displayed; Name=2; IsoId=P21128-2; Sequence=VSP_039216; Name=3; IsoId=P21128-3; Sequence=VSP_039215; Note=No experimental confirmation available; Placental-specific, but also associated with various malignant neoplasms. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. Belongs to the ENDOU family. Contains 2 SMB (somatomedin-B) domains. Was originally (PubMed:2350438) thought to be a serine protease. However, PubMed:18936097 showed it is not the case. RNA binding nuclease activity endonuclease activity endoribonuclease activity scavenger receptor activity extracellular region extracellular space cytoplasm plasma membrane proteolysis endocytosis immune response signal transduction female pregnancy growth factor activity serine-type peptidase activity hydrolase activity manganese ion binding polysaccharide binding metal ion binding nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic  uc001rpt.1 uc001rpt.2 uc001rpt.3 
ENST00000229022.9 VDR ENST00000229022.9 Homo sapiens vitamin D receptor (VDR), transcript variant 1, mRNA. (from RefSeq NM_001364085) A0A5K1VW50 ENST00000229022.1 ENST00000229022.2 ENST00000229022.3 ENST00000229022.4 ENST00000229022.5 ENST00000229022.6 ENST00000229022.7 ENST00000229022.8 NM_001364085 uc001rqm.1 uc001rqm.2 uc001rqm.3 uc001rqm.4 uc001rqm.5 uc001rqm.6 This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## stop codon readthrough :: PMID: 29386352 ##RefSeq-Attributes-END##  uc001rqm.1 uc001rqm.2 uc001rqm.3 uc001rqm.4 uc001rqm.5 uc001rqm.6 
ENST00000229030.5 FZD10 ENST00000229030.5 Homo sapiens frizzled class receptor 10 (FZD10), mRNA. (from RefSeq NM_007197) ENST00000229030.1 ENST00000229030.2 ENST00000229030.3 ENST00000229030.4 FZD10_HUMAN NM_007197 Q9ULW2 uc001uii.1 uc001uii.2 uc001uii.3 uc001uii.4 uc001uii.5 This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC070037.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Cell membrane; Multi-pass membrane protein (By similarity). Highest levels in the placenta and fetal kidney, followed by fetal lung and brain. In adult brain, abundantly expressed in the cerebellum, followed by cerebral cortex, medulla and spinal cord; very low levels in total brain, frontal lobe, temporal lobe and putamen. Weak expression detected in adult brain, heart, lung, skeletal muscle, pancreas, spleen and prostate. Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway (By similarity). The FZ domain is involved in binding with Wnt ligands (By similarity). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity). Belongs to the G-protein coupled receptor Fz/Smo family. Contains 1 FZ (frizzled) domain. transmembrane signaling receptor activity G-protein coupled receptor activity protein binding nucleoplasm cytoplasm plasma membrane integral component of plasma membrane signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway multicellular organism development cell surface membrane integral component of membrane Wnt signaling pathway Wnt-protein binding neuron differentiation regulation of actin cytoskeleton organization negative regulation of GTPase activity non-canonical Wnt signaling pathway non-canonical Wnt signaling pathway via JNK cascade Wnt-activated receptor activity positive regulation of JUN kinase activity positive regulation of GTPase activity canonical Wnt signaling pathway cellular response to retinoic acid  uc001uii.1 uc001uii.2 uc001uii.3 uc001uii.4 uc001uii.5 
ENST00000229134.5 IL26 ENST00000229134.5 Homo sapiens interleukin 26 (IL26), mRNA. (from RefSeq NM_018402) AK155 ENST00000229134.1 ENST00000229134.2 ENST00000229134.3 ENST00000229134.4 IL26_HUMAN NM_018402 Q9NPH9 uc001stx.1 uc001stx.2 uc001stx.3 This gene was identified by its overexpression specifically in herpesvirus samimiri-transformed T cells. The encoded protein is a member of the IL10 family of cytokines. It is a secreted protein and may function as a homodimer. This protein is thought to contribute to the transformed phenotype of T cells after infection by herpesvirus samimiri. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ251549.1, CF271979.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA2142586 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229134.5/ ENSP00000229134.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in local mechanisms of mucosal immunity and seems to have a proinflammatory function. May play a role in inflammatory bowel disease. Activates STAT1 and STAT3, MAPK1/3 (ERK1/2), JUN and AKT. Induces expression of SOCS3, TNF-alpha and IL-8, secretion of IL-8 and IL-10 and surface expression of ICAM1. Decreases proliferation of intestinal epithelial cells. Is inhibited by heparin. Homodimer. Secreted. Expressed in HVS transformed T-cells but not other T-cell lines or primary stimulated T-cells. Expressed in colonic T-cells including Th17 inflammatory T-cells; the expression is significantly increased in serum of patients with Crohn's disease (at protein level). By Herpesvirus saimiri infection. Belongs to the IL-10 family. Name=Wikipedia; Note=Interleukin-26 entry; URL="http://en.wikipedia.org/wiki/Interleukin_26"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il26/"; cytokine activity extracellular region extracellular space cytosol cell-cell signaling cytokine-mediated signaling pathway positive regulation of stress-activated MAPK cascade positive regulation of transcription from RNA polymerase II promoter positive regulation of JAK-STAT cascade negative regulation of epithelial cell proliferation positive regulation of cytokine secretion positive regulation of protein kinase B signaling positive regulation of ERK1 and ERK2 cascade  uc001stx.1 uc001stx.2 uc001stx.3 
ENST00000229135.4 IFNG ENST00000229135.4 Homo sapiens interferon gamma (IFNG), mRNA. (from RefSeq NM_000619) B5BU88 ENST00000229135.1 ENST00000229135.2 ENST00000229135.3 IFNG_HUMAN NM_000619 P01579 Q53ZV4 uc001stw.1 uc001stw.2 uc001stw.3 This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC070256.1, SRR1163655.241293.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229135.4/ ENSP00000229135.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Produced by lymphocytes activated by specific antigens or mitogens. IFN-gamma, in addition to having antiviral activity, has important immunoregulatory functions. It is a potent activator of macrophages, it has antiproliferative effects on transformed cells and it can potentiate the antiviral and antitumor effects of the type I interferons. Homodimer. Secreted. Released primarily from activated T lymphocytes. Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161. In Caucasians, genetic variation in IFNG is associated with the risk of aplastic anemia (AA) [MIM:609135]. AA is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. In most patients, the stem cell lesion is caused by an autoimmune attack. T-lymphocytes, activated by an endogenous or exogenous, and most often unknown antigenic stimulus, secrete cytokines, including IFN-gamma, which would in turn be able to suppress hematopoiesis. Available under the name Actimmune (Genentech). Used for reducing the frequency and severity of serious infections associated with chronic granulomatous disease (CGD). Belongs to the type II (or gamma) interferon family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IFNG"; Name=Wikipedia; Note=Interferon gamma entry; URL="http://en.wikipedia.org/wiki/Interferon_gamma"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ifng/"; negative regulation of transcription from RNA polymerase II promoter microglial cell activation positive regulation of protein phosphorylation adaptive immune response cytokine activity interferon-gamma receptor binding protein binding extracellular region extracellular space apoptotic process immune response humoral immune response cell cycle arrest cell surface receptor signaling pathway JAK-STAT cascade positive regulation of cell proliferation response to virus positive regulation of autophagy positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial cell migration regulation of protein ADP-ribosylation positive regulation of receptor biosynthetic process negative regulation of epithelial cell differentiation positive regulation of protein complex assembly negative regulation of interleukin-17 production positive regulation of interleukin-12 production positive regulation of interleukin-23 production positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response positive regulation of peptidyl-serine phosphorylation of STAT protein positive regulation of smooth muscle cell apoptotic process interleukin-12-mediated signaling pathway regulation of growth positive regulation of protein import into nucleus positive regulation of tyrosine phosphorylation of STAT protein positive regulation of tumor necrosis factor biosynthetic process positive regulation of chemokine biosynthetic process positive regulation of MHC class II biosynthetic process positive regulation of nitric oxide biosynthetic process regulation of regulatory T cell differentiation positive regulation of osteoclast differentiation positive regulation of glycolytic process negative regulation of transcription, DNA-templated astrocyte activation negative regulation of smooth muscle cell proliferation positive regulation of interleukin-1 beta biosynthetic process positive regulation of phagocytosis positive regulation of neurogenesis regulation of insulin secretion positive regulation of membrane protein ectodomain proteolysis positive regulation of nitrogen compound metabolic process defense response to virus positive regulation of killing of cells of other organism positive regulation of nitric-oxide synthase biosynthetic process interferon-gamma-mediated signaling pathway regulation of interferon-gamma-mediated signaling pathway positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity positive regulation of fructose 1,6-bisphosphate metabolic process positive regulation of vitamin D biosynthetic process positive regulation of calcidiol 1-monooxygenase activity positive regulation of protein serine/threonine kinase activity positive regulation of protein deacetylation extrinsic apoptotic signaling pathway negative regulation of beta-amyloid clearance positive regulation of neuron death positive regulation of cellular respiration positive regulation of beta-amyloid formation negative regulation of tau-protein kinase activity positive regulation of protein localization to plasma membrane positive regulation of exosomal secretion positive regulation of ferrous iron import across plasma membrane positive regulation of tumor necrosis factor secretion positive regulation of NMDA glutamate receptor activity positive regulation of core promoter binding positive regulation of tumor necrosis factor (ligand) superfamily member 11 production  uc001stw.1 uc001stw.2 uc001stw.3 
ENST00000229179.9 NUP107 ENST00000229179.9 Homo sapiens nucleoporin 107 (NUP107), transcript variant 1, mRNA. (from RefSeq NM_020401) ENST00000229179.1 ENST00000229179.2 ENST00000229179.3 ENST00000229179.4 ENST00000229179.5 ENST00000229179.6 ENST00000229179.7 ENST00000229179.8 NM_020401 NU107_HUMAN P57740 uc001suf.1 uc001suf.2 uc001suf.3 uc001suf.4 uc001suf.5 This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]. Essential component of nuclear pore complex. Required for the assembly of peripheral proteins into the nuclear pore complex. Forms part of the Nup160 subcomplex in the nuclear pore which is composed of Nup160, Nup133, Nup107 and Nup96. This complex plays a role in RNA export and in tethering Nup98 and Nup153 to the nucleus. Q8WUM0:NUP133; NbExp=5; IntAct=EBI-295687, EBI-295695; Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Note=Located on both the cytoplasmic and nuclear sides of the nuclear pore. During mitosis, localizes to the kinetochores. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the nucleoporin Nup84/Nup107 family. chromosome, centromeric region kinetochore condensed chromosome kinetochore posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery protein binding nucleus nuclear envelope nuclear pore chromosome cytosol regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein import into nucleus female gonad development protein transport membrane viral process protein sumoylation structural constituent of nuclear pore viral transcription nuclear pore outer ring nuclear membrane nuclear periphery host cell mRNA transport nuclear pore complex assembly regulation of gene silencing by miRNA nephron development intracellular transport of virus regulation of cellular response to heat  uc001suf.1 uc001suf.2 uc001suf.3 uc001suf.4 uc001suf.5 
ENST00000229195.8 CNOT2 ENST00000229195.8 Homo sapiens CCR4-NOT transcription complex subunit 2 (CNOT2), transcript variant 2, mRNA. (from RefSeq NM_014515) CDC36 CNOT2_HUMAN ENST00000229195.1 ENST00000229195.2 ENST00000229195.3 ENST00000229195.4 ENST00000229195.5 ENST00000229195.6 ENST00000229195.7 HSPC131 MSTP046 NM_014515 NOT2 Q9H3E0 Q9NSX5 Q9NWR6 Q9NZN8 Q9P028 uc001svv.1 uc001svv.2 uc001svv.3 uc001svv.4 uc001svv.5 This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]. The CCR4-NOT complex functions as general transcription regulation complex. Subunit of the CCR4-NOT core complex that contains CHAF1A, CHAF1B, CNOT1, CNOT2, CNOT3, CNOT4, CNOT6 and CNOT8. Cytoplasm (Probable). Nucleus (Probable). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9NZN8-1; Sequence=Displayed; Name=2; IsoId=Q9NZN8-2; Sequence=VSP_009912; Note=No experimental confirmation available; Name=3; IsoId=Q9NZN8-3; Sequence=VSP_009913; Note=May be due to an intron retention. No experimental confirmation available; Name=4; IsoId=Q9NZN8-4; Sequence=VSP_009915, VSP_009916; Note=May be due to an intron retention. No experimental confirmation available; Name=5; IsoId=Q9NZN8-5; Sequence=VSP_009914; Note=No experimental confirmation available; Ubiquitous. Highly expressed in brain, heart, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocytes. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the CNOT2/3/5 family. Sequence=AAF29095.1; Type=Frameshift; Positions=474; Sequence=AAQ13426.1; Type=Frameshift; Positions=71, 76, 84, 98, 123, 370, 384, 393; negative regulation of transcription from RNA polymerase II promoter nuclear-transcribed mRNA poly(A) tail shortening P-body RNA polymerase II transcription corepressor binding trophectodermal cell differentiation transcription cofactor activity protein binding nucleus cytoplasm cytosol plasma membrane regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter regulation of translation DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest multicellular organism development positive regulation of cytoplasmic mRNA processing body assembly membrane negative regulation of translation CCR4-NOT complex CCR4-NOT core complex gene silencing by RNA negative regulation of intracellular estrogen receptor signaling pathway RNA phosphodiester bond hydrolysis, exonucleolytic regulation of stem cell population maintenance poly(A)-specific ribonuclease activity  uc001svv.1 uc001svv.2 uc001svv.3 uc001svv.4 uc001svv.5 
ENST00000229201.4 TIMELESS ENST00000229201.4 Homo sapiens timeless circadian regulator (TIMELESS), transcript variant 2, mRNA. (from RefSeq NM_001330295) B2ZAV0 ENST00000229201.1 ENST00000229201.2 ENST00000229201.3 NM_001330295 O94802 Q86VM1 Q8IWH3 Q9UNS1 TIM TIM1 TIMELESS1 TIM_HUMAN uc058pob.1 The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]. Required for normal progression of S-phase. Involved in the circadian rhythm autoregulatory loop. Negatively regulates CLOCK-NPAS2/BMAL1-induced transactivation of PER1 possibly via translocation of PER1 into the nucleus. Promotes TIPIN nuclear localiZation. Involved in cell survival after DNA damage or replication stress. May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light. May also play an important role in epithelial cell morphogenesis and formation of branching tubules. Homomultimer. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSKN1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts directly with PER1, PER2 and PER3. Interacts with PER2 via its second PAS domain in vitro. Binds CRY1, CRY2, CHEK1, ATR and ATRIP (By similarity). Interacts with TIPIN and CLSPN. O14757:CHEK1; NbExp=2; IntAct=EBI-2212315, EBI-974488; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNS1-1; Sequence=Displayed; Name=2; IsoId=Q9UNS1-2; Sequence=VSP_051693; Expressed in all tissues examined including brain, heart, lung, liver, skeletal muscle, kidney, placenta, pancreas, spleen, thymus and testis. Highest levels of expression in placenta, pancreas, thymus and testis. Regulated by the cell cycle. High levels in S, G(2) and M phases, with highest level in S phase. Low expression in G(0) and G(1) phases. Belongs to the timeless family. Sequence=AAH39842.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/timeless/"; DNA replication checkpoint negative regulation of transcription from RNA polymerase II promoter nuclear chromatin morphogenesis of an epithelium DNA binding protein binding nucleus nucleoplasm chromosome DNA replication DNA repair cellular response to DNA damage stimulus cell cycle multicellular organism development circadian rhythm detection of abiotic stimulus lung development replication fork protection complex site of double-strand break regulation of circadian rhythm protein homodimerization activity replication fork arrest cell cycle phase transition negative regulation of transcription, DNA-templated protein heterodimerization activity replication fork protection rhythmic process branching morphogenesis of an epithelial tube cell division cellular response to hydroxyurea cellular response to cisplatin cellular response to bleomycin positive regulation of double-strand break repair via homologous recombination positive regulation of double-strand break repair regulation of cell proliferation  uc058pob.1 
ENST00000229214.9 KRR1 ENST00000229214.9 Homo sapiens KRR1 small subunit processome component homolog (KRR1), mRNA. (from RefSeq NM_007043) A0FIK6 A0JLP0 B2R989 E7EUQ0 ENST00000229214.1 ENST00000229214.2 ENST00000229214.3 ENST00000229214.4 ENST00000229214.5 ENST00000229214.6 ENST00000229214.7 ENST00000229214.8 HRB2 KRR1_HUMAN NM_007043 Q13601 Q8NEA8 Q8TC37 Q96AT5 uc001sxt.1 uc001sxt.2 uc001sxt.3 uc001sxt.4 uc001sxt.5 Required for 40S ribosome biogenesis. Involved in nucleolar processing of pre-18S ribosomal RNA and ribosome assembly (By similarity). Component of the ribosomal small subunit (SSU) processome (By similarity). Directly interacts with HIV-1 protein VPR. Also identified in a complex with NR3C1 and HIV-1 protein VPR. Cytoplasm. Nucleus, nucleolus. Note=Translocates from cytoplasm to nucleus after exposure to HIV- 1 virus or HIV-1 protein VPR or induction by hydrocortisone and dexamethasone in the absence of HIV-1 protein VPR. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13601-1; Sequence=Displayed; Name=2; IsoId=Q13601-2; Sequence=VSP_042223; Note=No experimental confirmation available; Belongs to the KRR1 family. Contains 1 KH domain. Sequence=AAB00557.1; Type=Frameshift; Positions=265, 300; Sequence=AAH05225.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; nucleic acid binding RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm rRNA processing membrane small-subunit processome ribosome biogenesis intercellular bridge  uc001sxt.1 uc001sxt.2 uc001sxt.3 uc001sxt.4 uc001sxt.5 
ENST00000229238.5 MRPL51 ENST00000229238.5 Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016497) CDA09 ENST00000229238.1 ENST00000229238.2 ENST00000229238.3 ENST00000229238.4 HSPC241 MRP64 NM_016497 Q4U2R6 Q96Q57 Q9BQ36 Q9P0N7 RM51_HUMAN uc001qom.1 uc001qom.2 uc001qom.3 uc001qom.4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.458397.1, SRR1660805.184931.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000229238.5/ ENSP00000229238.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Interacts with OXA1L (By similarity). Mitochondrion (By similarity). structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial ribosome mitochondrial large ribosomal subunit ribosome translation mitochondrial translation mitochondrial translational elongation mitochondrial translational termination  uc001qom.1 uc001qom.2 uc001qom.3 uc001qom.4 
ENST00000229239.10 GAPDH ENST00000229239.10 Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), transcript variant 6, non-coding RNA. (from RefSeq NR_152150) ENST00000229239.1 ENST00000229239.2 ENST00000229239.3 ENST00000229239.4 ENST00000229239.5 ENST00000229239.6 ENST00000229239.7 ENST00000229239.8 ENST00000229239.9 NR_152150 V9HVZ4 uc001qop.1 uc001qop.2 uc001qop.3 uc001qop.4 uc001qop.5 This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].  uc001qop.1 uc001qop.2 uc001qop.3 uc001qop.4 uc001qop.5 
ENST00000229243.7 ACRBP ENST00000229243.7 Homo sapiens acrosin binding protein (ACRBP), mRNA. (from RefSeq NM_032489) ACRBP_HUMAN ENST00000229243.1 ENST00000229243.2 ENST00000229243.3 ENST00000229243.4 ENST00000229243.5 ENST00000229243.6 NM_032489 Q8NEB7 Q9BY87 uc001qpu.1 uc001qpu.2 uc001qpu.3 The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.225875.1, SRR5189667.186649.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229243.7/ ENSP00000229243.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in packaging and condensation of the acrosin zymogen in the acrosomal matrix via its association with proacrosin (By similarity). Binds proacrosin (By similarity). Secreted (By similarity). Cytoplasmic vesicle, secretory vesicle, acrosome (By similarity). Note=Colocalizes with proacrosin in the acrosome of sperm (By similarity). Expression restricted to testis in normal tissue. Expressed in a wide spectrum of cancers, including bladder, breast, liver, lung and colon cancers. The N-terminus is blocked (By similarity). Phosphorylated on Tyr residues in capacitated sperm (By similarity). acrosomal vesicle acrosome assembly acrosomal membrane molecular_function extracellular region nucleus spermatid development biological_process fertilization cytoplasmic vesicle  uc001qpu.1 uc001qpu.2 uc001qpu.3 
ENST00000229251.7 COPS7A ENST00000229251.7 Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. (from UniProt Q9UBW8) A8K9A6 AF210052 CSN7A CSN7A_HUMAN DERP10 ENST00000229251.1 ENST00000229251.2 ENST00000229251.3 ENST00000229251.4 ENST00000229251.5 ENST00000229251.6 Q9NVX3 Q9UBW8 Q9UJW4 uc001qqh.1 uc001qqh.2 uc001qqh.3 uc001qqh.4 Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Component of the CSN complex, composed of COPS1/GPS1, COPS2, COPS3, COPS4, COPS5, COP6, COPS7 (COPS7A or COPS7B) and COPS8. In the complex, it probably interacts directly with COPS1, COPS2, COPS4, COPS5, COPS6 and COPS8. Interacts with PMF1. Interacts with the translation initiation factor EIF3S6. Interacts with CK2 and PKD. Interacts directly with ID3. Cytoplasm. Nucleus. Widely expressed. Expressed at high level in brain, heart and skeletal muscle. Phosphorylated by CK2 and PKD kinases. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the CSN7/EIF3M family. CSN7 subfamily. Contains 1 PCI domain. protein deneddylation nucleotide-excision repair, DNA damage recognition protein binding nucleus nucleoplasm cytoplasm cytosol transcription-coupled nucleotide-excision repair COP9 signalosome COP9 signalosome assembly viral process post-translational protein modification  uc001qqh.1 uc001qqh.2 uc001qqh.3 uc001qqh.4 
ENST00000229264.8 GNB3 ENST00000229264.8 Homo sapiens G protein subunit beta 3 (GNB3), transcript variant 1, mRNA. (from RefSeq NM_002075) ENST00000229264.1 ENST00000229264.2 ENST00000229264.3 ENST00000229264.4 ENST00000229264.5 ENST00000229264.6 ENST00000229264.7 GBB3_HUMAN NM_002075 P16520 Q9BQC0 uc001qrd.1 uc001qrd.2 uc001qrd.3 uc001qrd.4 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Interacts with RASD2. Belongs to the WD repeat G protein beta family. Contains 7 WD repeats. GTPase activity protein binding cytosol plasma membrane protein folding cell volume homeostasis signal transduction G-protein coupled receptor signaling pathway regulation of blood pressure regulation of gene expression regulation of glucose metabolic process dendrite spectrin binding regulation of hormone metabolic process neuron projection cell body regulation of fat cell differentiation GTPase binding extracellular exosome regulation of cholesterol metabolic process regulation of triglyceride metabolic process regulation of phospholipid metabolic process regulation of feeding behavior regulation of locomotion involved in locomotory behavior  uc001qrd.1 uc001qrd.2 uc001qrd.3 uc001qrd.4 
ENST00000229265.10 CDCA3 ENST00000229265.10 Homo sapiens cell division cycle associated 3 (CDCA3), transcript variant 2, mRNA. (from RefSeq NM_001297602) ENST00000229265.1 ENST00000229265.2 ENST00000229265.3 ENST00000229265.4 ENST00000229265.5 ENST00000229265.6 ENST00000229265.7 ENST00000229265.8 ENST00000229265.9 J3KMY0 J3KMY0_HUMAN NM_001297602 uc058klz.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc058klz.1 
ENST00000229266.8 CHPT1 ENST00000229266.8 Homo sapiens choline phosphotransferase 1 (CHPT1), mRNA. (from RefSeq NM_020244) B3KQM2 CHPT1_HUMAN CPT1 ENST00000229266.1 ENST00000229266.2 ENST00000229266.3 ENST00000229266.4 ENST00000229266.5 ENST00000229266.6 ENST00000229266.7 MSTP022 NM_020244 Q7Z7H0 Q7Z7H1 Q7Z7H2 Q8IWQ4 Q8IWQ5 Q8WUD6 Q8WYI4 Q9NRQ6 Q9NRQ7 Q9Y6M6 uc001tin.1 uc001tin.2 uc001tin.3 uc001tin.4 uc001tin.5 Catalyzes phosphatidylcholine biosynthesis from CDP- choline. It thereby plays a central role in the formation and maintenance of vesicular membranes. CDP-choline + 1,2-diacylglycerol = CMP + a phosphatidylcholine. Magnesium or manganese. Phospholipid metabolism; phosphatidylcholine biosynthesis; phosphatidylcholine from phosphocholine: step 2/2. Golgi apparatus membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Alpha; IsoId=Q8WUD6-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q8WUD6-2; Sequence=VSP_025989, VSP_025990; Highly expressed in testis, colon, small intestine, heart, prostate and spleen. Also detected in kidney, skeletal muscle, pancreas, leukocytes, ovary and thymus. Weakly expressed in the brain, placenta and lung. Overexpressed in cancerous breast epithelial cell lines. Belongs to the CDP-alcohol phosphatidyltransferase class-I family. Sequence=AAD44019.1; Type=Frameshift; Positions=310; Sequence=AAL39005.1; Type=Erroneous initiation; Golgi membrane regulation of cell growth diacylglycerol cholinephosphotransferase activity endoplasmic reticulum membrane Golgi apparatus lipid metabolic process phosphatidylcholine biosynthetic process CDP-choline pathway platelet activating factor biosynthetic process phospholipid biosynthetic process membrane integral component of membrane transferase activity phosphotransferase activity, for other substituted phosphate groups diacylglycerol binding intracellular membrane-bounded organelle metal ion binding  uc001tin.1 uc001tin.2 uc001tin.3 uc001tin.4 uc001tin.5 
ENST00000229268.13 USP5 ENST00000229268.13 Homo sapiens ubiquitin specific peptidase 5 (USP5), transcript variant 12, non-coding RNA. (from RefSeq NR_168455) D3DUS7 D3DUS8 ENST00000229268.1 ENST00000229268.10 ENST00000229268.11 ENST00000229268.12 ENST00000229268.2 ENST00000229268.3 ENST00000229268.4 ENST00000229268.5 ENST00000229268.6 ENST00000229268.7 ENST00000229268.8 ENST00000229268.9 ISOT NR_168455 P45974 Q96J22 UBP5_HUMAN uc001qri.1 uc001qri.2 uc001qri.3 uc001qri.4 uc001qri.5 uc001qri.6 Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. Cleaves linear and branched multiubiquitin polymers with a marked preference for branched polymers. Involved in unanchored 'Lys-48'-linked polyubiquitin disassembly. Binds linear and 'Lys- 63'-linked polyubiquitin with a lower affinity. Knock-down of USP5 causes the accumulation of p53/TP53 and an increase in p53/TP53 transcriptional activity because the unanchored polyubiquitin that accumulates is able to compete with ubiquitinated p53/TP53 but not with MDM2 for proteasomal recognition. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Binds 1 zinc ion. Interacts with TRIML1 (By similarity). O75528:TADA3; NbExp=2; IntAct=EBI-741277, EBI-473249; Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P45974-1; Sequence=Displayed; Name=Short; IsoId=P45974-2; Sequence=VSP_005259; The UBP-type zinc finger domain interacts selectively with an unmodified C-terminus of the proximal ubiquitin. Both UBA domains are involved in polyubiquitin recognition. The UBP-type zinc finger domain crystallizes as a dimer linked by a disulfide bond between the Cys-195 residues of both molecules, but there is no evidence that the full-length USP5 exists as a dimer. Belongs to the peptidase C19 family. Contains 2 UBA domains. Contains 1 UBP-type zinc finger. cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity protein binding lysosome cytosol proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity zinc ion binding protein ubiquitination protein deubiquitination hydrolase activity positive regulation of proteasomal ubiquitin-dependent protein catabolic process thiol-dependent ubiquitinyl hydrolase activity ubiquitin binding metal ion binding protein K48-linked deubiquitination  uc001qri.1 uc001qri.2 uc001qri.3 uc001qri.4 uc001qri.5 uc001qri.6 
ENST00000229270.8 TPI1 ENST00000229270.8 D-glyceraldehyde 3-phosphate = glycerone phosphate. (from UniProt P60174) D3DUS9 ENST00000229270.1 ENST00000229270.2 ENST00000229270.3 ENST00000229270.4 ENST00000229270.5 ENST00000229270.6 ENST00000229270.7 M10036 P00938 P60174 Q6FHP9 Q6IS07 Q8WWD0 Q96AG5 TPI TPIS_HUMAN uc001qrk.1 uc001qrk.2 uc001qrk.3 uc001qrk.4 uc001qrk.5 D-glyceraldehyde 3-phosphate = glycerone phosphate. Carbohydrate biosynthesis; gluconeogenesis. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate from glycerone phosphate: step 1/1. Homodimer. Event=Alternative promoter usage; Named isoforms=2; Name=1; IsoId=P60174-3; Sequence=Displayed; Name=2; IsoId=P60174-1; Sequence=VSP_041895; The initiator methionine for isoform 2 is removed. Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]. TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. Belongs to the triosephosphate isomerase family. Sequence=AAB51316.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAB59511.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07086.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH07812.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH09329.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH11611.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH15100.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH17917.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH70129.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH70129.1; Type=Miscellaneous discrepancy; Note=Sequence differs at the C-terminus; Sequence=AAN86636.1; Type=Frameshift; Positions=23; Sequence=BAG36090.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA49379.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Wikipedia; Note=Triosephosphate isomerase entry; URL="http://en.wikipedia.org/wiki/Triosephosphate_isomerase"; catalytic activity triose-phosphate isomerase activity protein binding extracellular space nucleus cytoplasm cytosol glucose metabolic process gluconeogenesis glycolytic process multicellular organism development methylglyoxal synthase activity lyase activity isomerase activity methylglyoxal biosynthetic process glycerol catabolic process glyceraldehyde-3-phosphate metabolic process ubiquitin protein ligase binding protein homodimerization activity glyceraldehyde-3-phosphate biosynthetic process canonical glycolysis extracellular exosome  uc001qrk.1 uc001qrk.2 uc001qrk.3 uc001qrk.4 uc001qrk.5 
ENST00000229277.6 ENO2 ENST00000229277.6 Homo sapiens enolase 2 (ENO2), mRNA. (from RefSeq NM_001975) ENST00000229277.1 ENST00000229277.2 ENST00000229277.3 ENST00000229277.4 ENST00000229277.5 NM_001975 Q6FHV6 Q6FHV6_HUMAN hCG_25937 uc001qru.1 uc001qru.2 This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.161086.1, SRR3476690.1104951.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229277.6/ ENSP00000229277.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## phosphopyruvate hydratase complex magnesium ion binding photoreceptor inner segment phosphopyruvate hydratase activity protein binding cytoplasm cytosol plasma membrane glycolytic process neuronal cell body perikaryon  uc001qru.1 uc001qru.2 
ENST00000229281.6 C12orf57 ENST00000229281.6 Homo sapiens chromosome 12 open reading frame 57 (C12orf57), transcript variant 1, mRNA. (from RefSeq NM_138425) B2R4Q6 C10 C10_HUMAN ENST00000229281.1 ENST00000229281.2 ENST00000229281.3 ENST00000229281.4 ENST00000229281.5 NM_138425 Q99622 uc001qrz.1 uc001qrz.2 uc001qrz.3 uc001qrz.4 uc001qrz.5 This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]. Belongs to the UPF0456 family. molecular_function cytoplasm post-embryonic development regulation of skeletal muscle contraction nuclear speck corpus callosum morphogenesis third ventricle development psychomotor behavior camera-type eye morphogenesis cognition  uc001qrz.1 uc001qrz.2 uc001qrz.3 uc001qrz.4 uc001qrz.5 
ENST00000229304.5 APOBEC1 ENST00000229304.5 Homo sapiens apolipoprotein B mRNA editing enzyme catalytic subunit 1 (APOBEC1), transcript variant 3, mRNA. (from RefSeq NM_005889) ABEC1_HUMAN ENST00000229304.1 ENST00000229304.2 ENST00000229304.3 ENST00000229304.4 NM_005889 P41238 Q9UE64 Q9UM71 uc001qtb.1 uc001qtb.2 uc001qtb.3 uc001qtb.4 uc001qtb.5 This gene encodes a member of the cytidine deaminase enzyme family. The encoded protein forms a multiple-protein editing holoenzyme with APOBEC1 complementation factor (ACF) and APOBEC1 stimulating protein (ASP). This holoenzyme is involved in the editing of C-to-U nucleotide bases in apolipoprotein B and neurofibromatosis-1 mRNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]. Catalytic component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in the APOB mRNA. Also involved in CGA (Arg) to UGA (Stop) editing in the NF1 mRNA. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Zinc (By similarity). Homodimer. Part of the apolipoprotein B mRNA editing complex with A1CF. Found in a complex with CELF2/CUGBP2 and A1CF. Interacts with HNRPAB and SYNCRIP. Cytoplasm. Expressed exclusively in the small intestine. Belongs to the cytidine and deoxycytidylate deaminase family. RNA binding mRNA binding catalytic activity cytidine deaminase activity cytosine deaminase activity protein binding nucleus nucleoplasm cytoplasm RNA processing mRNA processing lipid metabolic process triglyceride metabolic process response to osmotic stress enzyme activator activity zinc ion binding cytidine deamination response to zinc ion response to gamma radiation cytidine to uridine editing mRNA modification hydrolase activity protein domain specific binding cellular response to insulin stimulus mRNA 3'-UTR AU-rich region binding regulation of cell proliferation lipoprotein metabolic process lipoprotein biosynthetic process response to drug lipoprotein transport ribonucleoprotein complex binding positive regulation of catalytic activity response to ethanol metal ion binding mRNA stabilization response to calcium ion defense response to virus DNA cytosine deamination DNA demethylation negative regulation of triglyceride metabolic process negative regulation of methylation-dependent chromatin silencing positive regulation of mRNA modification  uc001qtb.1 uc001qtb.2 uc001qtb.3 uc001qtb.4 uc001qtb.5 
ENST00000229307.9 NANOG ENST00000229307.9 Homo sapiens Nanog homeobox (NANOG), transcript variant 1, mRNA. (from RefSeq NM_024865) D3DUU4 ENST00000229307.1 ENST00000229307.2 ENST00000229307.3 ENST00000229307.4 ENST00000229307.5 ENST00000229307.6 ENST00000229307.7 ENST00000229307.8 NANOG_HUMAN NM_024865 Q2TTG0 Q6JZS5 Q9H9S0 uc009zfy.1 uc009zfy.2 uc009zfy.3 The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal. Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'-TAAT[GT][GT]-3' or 5'- [CG][GA][CG]C[GC]ATTAN[GC]-3'. Able to autorepress its expression in differentiating (ES) cells: binds to its own promoter following interaction with ZNF281/ZFP281, leading to recruitment of the NuRD complex and subsequent repression of expression. When overexpressed, promotes cells to enter into S phase and proliferation. Interacts with SMAD1 and SALL4. Interacts with ZNF281/ZFP281 (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H9S0-1; Sequence=Displayed; Name=2; Synonyms=Nanog-delta 48; IsoId=Q9H9S0-2; Sequence=VSP_021688; Expressed in testicular carcinoma and derived germ cell tumors (at protein level). Expressed in fetal gonads, ovary and testis. Also expressed in ovary teratocarcinoma cell line and testicular embryonic carcinoma. Not expressed in many somatic organs and oocytes. Expressed in embryonic stem (ES) and carcinoma (EC) cells. Expressed in inner cell mass (ICM) of the blastocyst and gonocytes between 14 and 19 weeks of gestation (at protein level). Not expressed in oocytes, unfertilized oocytes, 2- 16 cell embryos and early morula (at protein level). Expressed in embryonic stem cells (ES). Expression decreases with ES differentiation. Exists an other tandem duplicated non-processed pseudogene (NANOGP1) and 10 other NANOG-related nucleotide sequences located on different chromosomes, all of which are processed pseudogenes lacking introns (NANOGP2 to NANOGP11); except NANOGP8 which is a retrogene. Belongs to the Nanog homeobox family. Contains 1 homeobox DNA-binding domain. Name=Wikipedia; Note=Nanog entry; URL="http://en.wikipedia.org/wiki/Nanog"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding endodermal cell fate specification DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus nucleoplasm nucleolus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development regulation of gene expression cytokine-mediated signaling pathway stem cell population maintenance cell differentiation somatic stem cell population maintenance sequence-specific DNA binding transcription regulatory region DNA binding regulation of cell differentiation positive regulation of transcription from RNA polymerase II promoter negative regulation of nucleic acid-templated transcription positive regulation of stem cell proliferation  uc009zfy.1 uc009zfy.2 uc009zfy.3 
ENST00000229314.10 GOLT1B ENST00000229314.10 Homo sapiens golgi transport 1B (GOLT1B), mRNA. (from RefSeq NM_016072) B2R4R4 CGI-141 ENST00000229314.1 ENST00000229314.2 ENST00000229314.3 ENST00000229314.4 ENST00000229314.5 ENST00000229314.6 ENST00000229314.7 ENST00000229314.8 ENST00000229314.9 GOT1A GOT1B_HUMAN HDCMA39P NM_016072 Q54A40 Q6I9W6 Q9P1R9 Q9Y3E0 UNQ432/PRO793 uc001rez.1 uc001rez.2 uc001rez.3 uc001rez.4 May be involved in fusion of ER-derived transport vesicles with the Golgi complex. Golgi apparatus membrane; Multi-pass membrane protein. Belongs to the GOT1 family. Sequence=AAF65181.1; Type=Erroneous initiation; Golgi membrane endoplasmic reticulum Golgi apparatus protein transport membrane integral component of membrane vesicle-mediated transport macromolecular complex positive regulation of I-kappaB kinase/NF-kappaB signaling  uc001rez.1 uc001rez.2 uc001rez.3 uc001rez.4 
ENST00000229328.10 PRKAB1 ENST00000229328.10 Homo sapiens protein kinase AMP-activated non-catalytic subunit beta 1 (PRKAB1), mRNA. (from RefSeq NM_006253) AAKB1_HUMAN AMPK ENST00000229328.1 ENST00000229328.2 ENST00000229328.3 ENST00000229328.4 ENST00000229328.5 ENST00000229328.6 ENST00000229328.7 ENST00000229328.8 ENST00000229328.9 NM_006253 Q9UBV0 Q9UE20 Q9UEX2 Q9Y478 Q9Y6V8 uc001txg.1 uc001txg.2 uc001txg.3 uc001txg.4 uc001txg.5 The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC017671.1, AF022116.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229328.10/ ENSP00000229328.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3). AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a gamma non- catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2. P62993:GRB2; NbExp=2; IntAct=EBI-719769, EBI-401755; P54619:PRKAG1; NbExp=3; IntAct=EBI-719769, EBI-1181439; The glycogen-binding domain may target AMPK to glycogen so that other factors like glycogen-bound debranching enzyme or protein phosphatases can directly affect AMPK activity (By similarity). Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK. Belongs to the 5'-AMP-activated protein kinase beta subunit family. Sequence=AAB71326.1; Type=Erroneous gene model prediction; Sequence=AAC98897.1; Type=Frameshift; Positions=245; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRKAB1ID44100ch12q24.html"; protein kinase activity AMP-activated protein kinase activity protein binding nucleus nucleoplasm cytoplasm cytosol protein phosphorylation lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process cell cycle arrest signal transduction positive regulation of gene expression macroautophagy regulation of macroautophagy protein kinase binding nucleotide-activated protein kinase complex macromolecular complex nail development regulation of catalytic activity protein heterooligomerization regulation of signal transduction by p53 class mediator  uc001txg.1 uc001txg.2 uc001txg.3 uc001txg.4 uc001txg.5 
ENST00000229329.7 CMAS ENST00000229329.7 Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), transcript variant 1, mRNA. (from RefSeq NM_018686) ENST00000229329.1 ENST00000229329.2 ENST00000229329.3 ENST00000229329.4 ENST00000229329.5 ENST00000229329.6 NEUA_HUMAN NM_018686 Q8NFW8 Q96AX5 Q9NQZ0 uc001rfm.1 uc001rfm.2 uc001rfm.3 uc001rfm.4 uc001rfm.5 uc001rfm.6 This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). CTP + N-acylneuraminate = diphosphate + CMP-N- acylneuraminate. Amino-sugar metabolism; N-acetylneuraminate metabolism. Homotetramer; the active enzyme is formed by a dimer of dimers. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NFW8-1; Sequence=Displayed; Name=2; IsoId=Q8NFW8-2; Sequence=VSP_012764; Note=No experimental confirmation available; Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen. The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity). Belongs to the CMP-NeuNAc synthase family. nucleus nucleoplasm N-acetylneuraminate metabolic process N-acylneuraminate cytidylyltransferase activity membrane transferase activity nucleotidyltransferase activity  uc001rfm.1 uc001rfm.2 uc001rfm.3 uc001rfm.4 uc001rfm.5 uc001rfm.6 
ENST00000229330.9 HCFC2 ENST00000229330.9 Homo sapiens host cell factor C2 (HCFC2), mRNA. (from RefSeq NM_013320) B2R8Q5 ENST00000229330.1 ENST00000229330.2 ENST00000229330.3 ENST00000229330.4 ENST00000229330.5 ENST00000229330.6 ENST00000229330.7 ENST00000229330.8 HCFC2_HUMAN NM_013320 Q9Y5Z7 uc001tkj.1 uc001tkj.2 uc001tkj.3 uc001tkj.4 uc001tkj.5 uc001tkj.6 This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.206310.1, SRR1660803.229480.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229330.9/ ENSP00000229330.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds MLL. Component of the MLL1/MLL complex, at least composed of MLL, ASH2L, RBBP5, DPY30, WDR5, MEN1, HCFC1 and HCFC2. Cytoplasm. Nucleus. Highly expressed in testis. Detected at lower levels in spleen, thymus, prostate, ovary, small intestine and colon. Contains 3 fibronectin type-III domains. Contains 4 Kelch repeats. negative regulation of transcription from RNA polymerase II promoter transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane regulation of transcription from RNA polymerase II promoter viral process MLL1 complex positive regulation of nucleic acid-templated transcription  uc001tkj.1 uc001tkj.2 uc001tkj.3 uc001tkj.4 uc001tkj.5 uc001tkj.6 
ENST00000229332.12 CLEC4A ENST00000229332.12 Homo sapiens C-type lectin domain family 4 member A (CLEC4A), transcript variant 1, mRNA. (from RefSeq NM_016184) CLC4A_HUMAN CLECSF6 DCIR ENST00000229332.1 ENST00000229332.10 ENST00000229332.11 ENST00000229332.2 ENST00000229332.3 ENST00000229332.4 ENST00000229332.5 ENST00000229332.6 ENST00000229332.7 ENST00000229332.8 ENST00000229332.9 HDCGC13P LLIR NM_016184 Q17R69 Q8WXW9 Q9H2Z9 Q9NS33 Q9UI34 Q9UMR7 uc001qtz.1 uc001qtz.2 This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]. May be involved in regulating immune reactivity. May play a role in modulating dendritic cells (DC) differentiation and/or maturation. May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation. May interact with PTPN6 via its ITIM motif. Membrane; Single-pass type II membrane protein (Probable). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UMR7-1; Sequence=Displayed; Name=2; IsoId=Q9UMR7-2; Sequence=VSP_012844; Name=3; Synonyms=llirV1; IsoId=Q9UMR7-3; Sequence=VSP_041348; Name=4; Synonyms=llirV2; IsoId=Q9UMR7-4; Sequence=VSP_012842; Expressed in dendritic cells, myeloid cells, B-cells and HL-60 cells (at protein level). TNF alpha, IL-1 alpha, and LPS, down-regulated expression at the surface of neutrophils (at protein level). Expressed preferentially in hematopoietic tissues. Expressed in peripheral blood leukocytes, neutrophils, moderate quantities in spleen, lymph node, and bone marrow, and at very low levels in thymus. Expressed in Ag-presenting cells (DC, monocytes, macrophages and B-cells), as well as on granulocytes. Expression was decreased in DC by signals inducing its maturation (e.g. CD40 ligand, LPS, and TNF alpha). Isoform 2 mRNA expression is up-regulated by agonists of neutrophils CSF2/GM-CSF, IL3/interleukin-3, IL4/interleukin-4 and IL13/interleukin-13. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. Contains 1 C-type lectin domain. Sequence=AAL56016.1; Type=Frameshift; Positions=229; Name=Functional Glycomics Gateway - Glycan Binding; Note=DCIR; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_00137"; negative regulation of cytokine production stimulatory C-type lectin receptor signaling pathway adaptive immune response immune system process plasmacytoid dendritic cell antigen processing and presentation transmembrane signaling receptor activity calcium ion binding mannose binding plasma membrane integral component of plasma membrane cell adhesion cell surface receptor signaling pathway membrane integral component of membrane carbohydrate binding negative regulation of tumor necrosis factor production CD8-positive, alpha-beta T cell activation antigen processing and presentation of exogenous peptide antigen via MHC class I innate immune response metal ion binding  uc001qtz.1 uc001qtz.2 
ENST00000229335.11 AICDA ENST00000229335.11 Homo sapiens activation induced cytidine deaminase (AICDA), transcript variant 1, mRNA. (from RefSeq NM_020661) AICDA_HUMAN AID ENST00000229335.1 ENST00000229335.10 ENST00000229335.2 ENST00000229335.3 ENST00000229335.4 ENST00000229335.5 ENST00000229335.6 ENST00000229335.7 ENST00000229335.8 ENST00000229335.9 NM_020661 Q9GZX7 uc001qur.1 uc001qur.2 uc001qur.3 uc001qur.4 This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]. Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and class- switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by participating in DNA demethylation. Cytidine + H(2)O = uridine + NH(3). Zinc (By similarity). Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA. Interacts (via its NLS) with KPNA1. P24522:GADD45A; NbExp=5; IntAct=EBI-3834328, EBI-448167; Q13569:TDG; NbExp=5; IntAct=EBI-3834328, EBI-348333; Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the cytoplasm. Strongly expressed in lymph nodes and tonsils. Phosphorylated. Defects in AICDA are the cause of immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]. A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. Belongs to the cytidine and deoxycytidylate deaminase family. Name=AICDAbase; Note=AICDA mutation db; URL="http://bioinf.uta.fi/AICDAbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AICDA"; P-body RNA binding catalytic activity cytidine deaminase activity protein binding nucleus cytoplasm mRNA processing zinc ion binding cytidine deamination negative regulation of transposition somatic diversification of immunoglobulins somatic hypermutation of immunoglobulin genes cytidine to uridine editing hydrolase activity B cell differentiation ubiquitin protein ligase binding macromolecular complex regulation of nuclear cell cycle DNA replication defense response to bacterium identical protein binding isotype switching negative regulation of single stranded viral RNA replication via double stranded DNA intermediate metal ion binding deoxycytidine deaminase activity defense response to virus DNA cytosine deamination cellular response to lipopolysaccharide DNA demethylation negative regulation of methylation-dependent chromatin silencing  uc001qur.1 uc001qur.2 uc001qur.3 uc001qur.4 
ENST00000229340.10 RAB35 ENST00000229340.10 Homo sapiens RAB35, member RAS oncogene family (RAB35), transcript variant 1, mRNA. (from RefSeq NM_006861) B2R6E0 B4E390 ENST00000229340.1 ENST00000229340.2 ENST00000229340.3 ENST00000229340.4 ENST00000229340.5 ENST00000229340.6 ENST00000229340.7 ENST00000229340.8 ENST00000229340.9 NM_006861 Q15286 RAB1C RAB35_HUMAN RAY uc001txm.1 uc001txm.2 uc001txm.3 In the process of endocytosis, essential rate-limiting regulator of a fast recycling pathway back to the plasma membrane. During cytokinesis, required for the postfurrowing terminal steps, namely for intercellular bridge stability and abscission, possibly by controlling phosphatidylinositol 4,5-bis phosphate (PIP2) and SEPT2 localization at the intercellular bridge. Interacts with DENND1A and DENND1B in a nucleotide- dependent manner. The low binding to DENND1C is nucleotide- independent. All 3 DENND1 act as GEFs for RAB35 and thus activate the protein. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Membrane, clathrin-coated pit. Cytoplasmic vesicle, clathrin-coated vesicle. Endosome. Melanosome. Note=Present on sorting endosomes and endosomal tubules. Tends to be enriched in PIP2-positive cell membrane domains. During mitosis, associated with the plasma membrane and present at the ingressing furrow during early cytokinesis as well as at the intercellular bridge later during cytokinesis. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15286-1; Sequence=Displayed; Name=2; IsoId=Q15286-2; Sequence=VSP_042918; Note=No experimental confirmation available; AMPylation at Tyr-77 by L.pneumophila DrrA occurs in the switch 2 region and leads to moderate inactivation of the GTPase activity. It appears to prolong the lifetime of the GTP state of RAB1B by restricting access of GTPase effectors to switch 2 and blocking effector-stimulated GTP hydrolysis, thereby rendering RAB35 constitutively active. Phosphocholinated by L.pneumophila AnkX. Both GDP-bound and GTP-bound forms can be phosphocholinated. Phosphocholination inhibits the GEF activity of DENND1A. Belongs to the small GTPase superfamily. Rab family. nucleotide binding mitotic cytokinesis GTPase activity protein binding GTP binding phosphatidylinositol-4,5-bisphosphate binding endosome cytosol plasma membrane clathrin-coated pit intracellular protein transport protein localization endosome membrane protein transport membrane endosomal transport GDP binding antigen processing and presentation clathrin-coated vesicle clathrin-coated vesicle membrane neuron projection development cell projection membrane cytoplasmic vesicle endocytic recycling Rab protein signal transduction protein localization to endosome melanosome intercellular bridge clathrin-coated endocytic vesicle plasma membrane to endosome transport recycling endosome membrane extracellular exosome anchored component of synaptic vesicle membrane cellular response to nerve growth factor stimulus  uc001txm.1 uc001txm.2 uc001txm.3 
ENST00000229379.3 COX6A1 ENST00000229379.3 Homo sapiens cytochrome c oxidase subunit 6A1 (COX6A1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004373) B2R500 COX6AL CX6A1_HUMAN ENST00000229379.1 ENST00000229379.2 NM_004373 O43714 P12074 Q32Q37 uc001tyf.1 uc001tyf.2 uc001tyf.3 Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AV716665.1, SRR1163657.341458.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000229379.3/ ENSP00000229379.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Mitochondrion inner membrane. Belongs to the cytochrome c oxidase subunit 6A family. Sequence=CAA33392.1; Type=Frameshift; Positions=17; cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex IV generation of precursor metabolites and energy mitochondrial electron transport, cytochrome c to oxygen aerobic respiration membrane enzyme regulator activity regulation of catalytic activity hydrogen ion transmembrane transport  uc001tyf.1 uc001tyf.2 uc001tyf.3 
ENST00000229384.5 GATC ENST00000229384.5 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMY1) BC107146 ENST00000229384.1 ENST00000229384.2 ENST00000229384.3 ENST00000229384.4 J3KMY1 J3KMY1_HUMAN uc058ubk.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. regulation of translational fidelity  uc058ubk.1 
ENST00000229387.6 RFX4 ENST00000229387.6 Homo sapiens regulatory factor X4 (RFX4), transcript variant 1, mRNA. (from RefSeq NM_032491) A8K5Y0 B2RDW4 ENST00000229387.1 ENST00000229387.2 ENST00000229387.3 ENST00000229387.4 ENST00000229387.5 NM_032491 Q33DW6 Q33DW7 Q33E94 Q33E95 Q6YM53 Q8MHQ1 Q8NC78 Q8NDF9 Q8SNA1 Q96S80 Q9BXI0 RFX4_HUMAN uc001tlv.1 uc001tlv.2 uc001tlv.3 uc001tlv.4 This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]. May activate transcription by interacting directly with the X-box (By similarity). Homodimer. Heterodimer with RFX2 and RFX3. Binds DNA. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=RFX4-D, RFX4_v3; IsoId=Q33E94-1; Sequence=Displayed; Name=2; Synonyms=RFX4-C, RFX4_v4; IsoId=Q33E94-2; Sequence=VSP_030243; Name=3; Synonyms=RFX4-A, RFX4_v1; IsoId=Q33E94-3; Sequence=VSP_030242, VSP_030244; Name=4; IsoId=Q33E94-4; Sequence=VSP_030243, VSP_030245, VSP_030246; Isoform 4 is testis-specific. Isoform 1 is expressed in brain and gliomas. Isoform 2 and isoform 3 are testis-specific (at protein level). Isoform 1 is expressed in brain (at protein level). Isoform 3 is expressed at a higher level in adult testes and ejaculated spematozoa than in fetal testes. Belongs to the RFX family. Contains 1 RFX-type winged-helix DNA-binding domain. Sequence=BAB59001.1; Type=Miscellaneous discrepancy; Note=Probable intron retention; Sequence=BAC11288.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE48237.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAE48238.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter telencephalon development negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning positive regulation of transcription from RNA polymerase II promoter cilium assembly regulation of protein processing  uc001tlv.1 uc001tlv.2 uc001tlv.3 uc001tlv.4 
ENST00000229390.8 SRSF9 ENST00000229390.8 Homo sapiens serine and arginine rich splicing factor 9 (SRSF9), mRNA. (from RefSeq NM_003769) ENST00000229390.1 ENST00000229390.2 ENST00000229390.3 ENST00000229390.4 ENST00000229390.5 ENST00000229390.6 ENST00000229390.7 NM_003769 Q13242 Q52LD1 SFRS9 SRP30C SRSF9_HUMAN uc001tyi.1 uc001tyi.2 uc001tyi.3 uc001tyi.4 uc001tyi.5 The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.125813.1, SRR1163655.38947.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229390.8/ ENSP00000229390.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10. Interacts with KHDRBS3 (By similarity). Interacts with NOL3/ARC/NOP30, NSEP1/YB-1/YB1, SAFB/SAFB1, SRSF6/SFRS6 and TRA2B/SFRS10. May also interact with DUSP11/PIR1. Nucleus. Note=Cellular stresses such as heat shock may induce localization to discrete nuclear bodies termed SAM68 nuclear bodies (SNBs), HAP bodies, or stress bodies. Numerous splicing factors including SRSF1/SFRS1/SF2, SRSF7/SFRS7, SAFB and KHDRBS1/SAM68 accumulate at these structures, which may participate in the post-transcriptional regulation of mRNAs in stressed cells. Expressed at high levels in the heart, kidney, pancreas and placenta, and at lower levels in the brain, liver, lung and skeletal muscle. Extensively phosphorylated on serine residues in the RS domain (By similarity). Belongs to the splicing factor SR family. Contains 2 RRM (RNA recognition motif) domains. regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm nucleolus mRNA splice site selection mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing response to toxic substance nuclear speck protein domain specific binding mRNA 3'-end processing response to alkaloid mRNA cis splicing, via spliceosome negative regulation of mRNA splicing, via spliceosome  uc001tyi.1 uc001tyi.2 uc001tyi.3 uc001tyi.4 uc001tyi.5 
ENST00000229395.8 FGFR1OP2 ENST00000229395.8 Homo sapiens FGFR1 oncogene partner 2 (FGFR1OP2), transcript variant 1, mRNA. (from RefSeq NM_015633) ENST00000229395.1 ENST00000229395.2 ENST00000229395.3 ENST00000229395.4 ENST00000229395.5 ENST00000229395.6 ENST00000229395.7 FGOP2_HUMAN HSPC123 NM_015633 Q6R955 Q8N5L7 Q9NVK5 Q9P034 Q9UFK8 uc001rhm.1 uc001rhm.2 uc001rhm.3 uc001rhm.4 uc001rhm.5 May be involved in wound healing pathway (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NVK5-1; Sequence=Displayed; Name=2; IsoId=Q9NVK5-2; Sequence=VSP_027538; Name=3; IsoId=Q9NVK5-3; Sequence=VSP_027539, VSP_027540; Note=No experimental confirmation available; Expressed in bone marrow, spleen and thymus. Note=A chromosomal aberration involving FGFR1OP2 may be a cause of stem cell myeloproliferative disorder (MPD). Insertion ins(12;8)(p11;p11p22) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein FGFR1OP2-FGFR1 may exhibit constitutive kinase activity and be responsible for the transforming activity. Belongs to the SIKE family. Sequence=AAF29087.1; Type=Frameshift; Positions=61, 67, 72, 91; Sequence=CAB56012.1; Type=Frameshift; Positions=189; protein binding cytoplasm cytosol response to wounding wound healing protein homodimerization activity  uc001rhm.1 uc001rhm.2 uc001rhm.3 uc001rhm.4 uc001rhm.5 
ENST00000229402.4 KLRB1 ENST00000229402.4 Homo sapiens killer cell lectin like receptor B1 (KLRB1), mRNA. (from RefSeq NM_002258) CLEC5B ENST00000229402.1 ENST00000229402.2 ENST00000229402.3 KLRB1_HUMAN NKRP1A NM_002258 Q12918 Q24K24 uc010sgt.1 uc010sgt.2 uc010sgt.3 uc010sgt.4 Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC027885.1, AK292022.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229402.4/ ENSP00000229402.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Binds also to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells. Homodimer; disulfide-linked. Interacts with acid sphingomyelinase/SMPD1. Membrane; Single-pass type II membrane protein (Potential). Expressed in a subset of NK cells predominantly in intestinal epithelium and liver. Detected in peripheral blood T-cells and preferentially in adult T-cells with a memory antigenic phenotype. By IL12/interleukin-12 in NK cells. N-glycosylated. Contains sialic acid residues. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=NKRP1; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_248"; transmembrane signaling receptor activity protein binding plasma membrane cell surface receptor signaling pathway membrane integral component of membrane carbohydrate binding regulation of immune response  uc010sgt.1 uc010sgt.2 uc010sgt.3 uc010sgt.4 
ENST00000229405.8 ZNF76 ENST00000229405.8 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8W971) AB208784 ENST00000229405.1 ENST00000229405.2 ENST00000229405.3 ENST00000229405.4 ENST00000229405.5 ENST00000229405.6 ENST00000229405.7 F8W971 F8W971_HUMAN uc063obh.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063obh.1 
ENST00000229447.9 IYD ENST00000229447.9 Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 5, non-coding RNA. (from RefSeq NR_134655) C6orf71 DEHAL1 ENST00000229447.1 ENST00000229447.2 ENST00000229447.3 ENST00000229447.4 ENST00000229447.5 ENST00000229447.6 ENST00000229447.7 ENST00000229447.8 IYD1_HUMAN NR_134655 Q2VPW0 Q2VPW1 Q5F1L5 Q5F1L6 Q5THM4 Q6PHW0 Q6ZP69 Q7Z7D7 Q7Z7D8 uc003qnx.1 uc003qnx.2 uc003qnx.3 This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Catalyzes the oxidative NADPH-dependent deiodination of monoiodotyrosine (L-MIT) or diiodotyrosine (L-DIT). Acts during the hydrolysis of thyroglobulin to liberate iodide, which can then reenter the hormone-producing pathways. Acts more efficiently on monoiodotyrosine than on diiodotyrosine. L-tyrosine + 2 NADP(+) + 2 I(-) = 3,5-diiodo- L-tyrosine + 2 NADPH. FMN (Probable). Kinetic parameters: KM=2.67 uM for L-DIT; KM=1.35 uM for L-MIT; Homodimer (By similarity). Cell membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q6PHW0-1; Sequence=Displayed; Name=3; Synonyms=E; IsoId=Q6PHW0-3; Sequence=VSP_017809, VSP_017810; Name=4; Synonyms=B; IsoId=Q6PHW0-4; Sequence=VSP_017805; Name=5; Synonyms=C; IsoId=Q6PHW0-5; Sequence=VSP_017806, VSP_017813; Name=6; Synonyms=D; IsoId=Q6PHW0-6; Sequence=VSP_017807, VSP_017812; Name=7; Synonyms=F; IsoId=Q6PHW0-7; Sequence=VSP_017802, VSP_017803, VSP_017809, VSP_017810; Expressed at a high level in thyroid gland and at lower level in kidney and trachea. Defects in IYD are the cause of thyroid dyshormonogenesis 4 (TDH4) [MIM:274800]. A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism. Belongs to the nitroreductase family. Sequence=AAY41467.1; Type=Erroneous translation; Sequence=BAC85255.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI20537.1; Type=Erroneous gene model prediction; iodide peroxidase activity protein binding nucleoplasm plasma membrane integral component of plasma membrane tyrosine metabolic process thyroid hormone generation FMN binding membrane integral component of membrane oxidoreductase activity cytoplasmic vesicle membrane cytoplasmic vesicle thyroid hormone metabolic process oxidation-reduction process cellular oxidant detoxification  uc003qnx.1 uc003qnx.2 uc003qnx.3 
ENST00000229465.10 LINC03033 ENST00000229465.10 LINC03033 (from geneSymbol) AK026100 ENST00000229465.1 ENST00000229465.2 ENST00000229465.3 ENST00000229465.4 ENST00000229465.5 ENST00000229465.6 ENST00000229465.7 ENST00000229465.8 ENST00000229465.9 uc059cgh.1  uc059cgh.1 
ENST00000229471.8 FYN ENST00000229471.8 Homo sapiens FYN proto-oncogene, Src family tyrosine kinase (FYN), transcript variant 3, mRNA. (from RefSeq NM_153048) B5BU57 E1P557 ENST00000229471.1 ENST00000229471.2 ENST00000229471.3 ENST00000229471.4 ENST00000229471.5 ENST00000229471.6 ENST00000229471.7 FYN_HUMAN H0UI48 NM_153048 P06241 Q16248 Q5R3A6 Q5R3A7 Q8N5D7 uc003pvi.1 uc003pvi.2 uc003pvi.3 uc003pvi.4 This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]. Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signaling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motility through phosphorylation of CTNNB1 (beta-catenin) and CTNND1 (delta- catenin). Regulates cytoskeletal remodeling by phosphorylating several proteins including the actin regulator WAS and the microtubule-associated proteins MAP2 and MAPT. Promotes cell survival by phosphorylating AGAP2/PIKE-A and preventing its apoptotic cleavage. Participates in signal transduction pathways that regulate the integrity of the glomerular slit diaphragm (an essential part of the glomerular filter of the kidney) by phosphorylating several slit diaphragm components including NPHS1, KIRREL and TRPC6. Plays a role in neural processes by phosphorylating DPYSL2, a multifunctional adapter protein within the central nervous system, ARHGAP32, a regulator for Rho family GTPases implicated in various neural functions, and SNCA, a small pre-synaptic protein. Participates in the downstream signaling pathways that lead to T-cell differentiation and proliferation following T-cell receptor (TCR) stimulation. Also participates in negative feedback regulation of TCR signaling through phosphorylation of PAG1, thereby promoting interaction between PAG1 and CSK and recruitment of CSK to lipid rafts. CSK maintains LCK and FYN in an inactive form. Promotes CD28-induced phosphorylation of VAV1. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Manganese. Inhibited by phosphorylation of Tyr-531 by leukocyte common antigen and activated by dephosphorylation of this site. Interacts (via its SH3 domain) with PIK3R1 and PRMT8. Interacts with FYB, PAG1, and SH2D1A. Interacts with CD79A (tyrosine-phosphorylated form); the interaction increases FYN activity. Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated) (By similarity). Interacts with TOM1L1 (phosphorylated form). Interacts with KDR (tyrosine phosphorylated) (By similarity). Interacts with SH2D1A and SLAMF1. Interacts (via its SH3 domain) with HEV ORF3 protein. Interacts with ITCH; the interaction phosphorylates ITCH and negatively regulates its activity. Interacts with FASLG. Interacts with RUNX3. Interacts with KIT. Interacts with EPHA8; possible downstream effector of EPHA8 in regulation of cell adhesion. Interacts with PTK2/FAK1; this interaction leads to PTK2/FAK1 phosphorylation and activation. Interacts with CAV1; this interaction couples integrins to the Ras-ERK pathway. O92972:- (xeno); NbExp=2; IntAct=EBI-515315, EBI-710506; P27958:- (xeno); NbExp=4; IntAct=EBI-515315, EBI-706378; Q9WMX2:- (xeno); NbExp=2; IntAct=EBI-515315, EBI-710918; P42684:ABL2; NbExp=2; IntAct=EBI-515315, EBI-1102694; A7KAX9:ARHGAP32; NbExp=4; IntAct=EBI-515315, EBI-308663; O14559:ARHGAP33; NbExp=2; IntAct=EBI-515315, EBI-1210010; Q9ULH1:ASAP1; NbExp=2; IntAct=EBI-515315, EBI-346622; Q8WX92:COBRA1; NbExp=2; IntAct=EBI-515315, EBI-347721; P50406:HTR6; NbExp=7; IntAct=EBI-515315, EBI-1182222; Q07666:KHDRBS1; NbExp=3; IntAct=EBI-515315, EBI-1364; Q92918:MAP4K1; NbExp=2; IntAct=EBI-515315, EBI-881; Q9H204:MED28; NbExp=5; IntAct=EBI-515315, EBI-514199; O43900:PRICKLE3; NbExp=2; IntAct=EBI-515315, EBI-1751761; Q05655:PRKCD; NbExp=4; IntAct=EBI-515315, EBI-704279; Q04759:PRKCQ; NbExp=7; IntAct=EBI-515315, EBI-374762; Q13905:RAPGEF1; NbExp=2; IntAct=EBI-515315, EBI-976876; Cell membrane. Note=Present and active in lipid rafts. Palmitoylation is crucial for proper trafficking. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=B; IsoId=P06241-1; Sequence=Displayed; Name=2; Synonyms=T; IsoId=P06241-2; Sequence=VSP_024110; Name=3; IsoId=P06241-3; Sequence=VSP_024108; Note=No experimental confirmation available; Isoform 1 is highly expressed in the brain. Isoform 2 is expressed in cells of hemopoietic lineages, especially T-lymphocytes. Autophosphorylated at Tyr-420. Phosphorylation on the C- terminal tail at Tyr-531 by CSK maintains the enzyme in an inactive state (By similarity). PTPRC/CD45 dephosphorylates Tyr- 531 leading to activation. Palmitoylation at Cys-3 and Cys-6 regulates subcellular location (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. Contains 1 protein kinase domain. Contains 1 SH2 domain. Contains 1 SH3 domain. MAPK cascade nucleotide binding response to singlet oxygen G-protein coupled receptor binding neuron migration stimulatory C-type lectin receptor signaling pathway adaptive immune response immune system process heart process protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding nucleus cytoplasm mitochondrion endosome cytosol actin filament plasma membrane protein phosphorylation calcium ion transport cell surface receptor signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development axon guidance blood coagulation learning feeding behavior regulation of cell shape negative regulation of gene expression negative regulation of hydrogen peroxide biosynthetic process positive regulation of neuron projection development positive regulation of phosphatidylinositol 3-kinase signaling postsynaptic density tubulin binding membrane viral process kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cytokine-mediated signaling pathway enzyme binding cell differentiation platelet activation dendrite forebrain development extrinsic component of cytoplasmic side of plasma membrane T cell costimulation negative regulation of protein ubiquitination type 5 metabotropic glutamate receptor binding intracellular signal transduction cellular response to platelet-derived growth factor stimulus peptidyl-tyrosine autophosphorylation Fc-gamma receptor signaling pathway involved in phagocytosis regulation of cell proliferation negative regulation of protein catabolic process response to drug positive regulation of tyrosine phosphorylation of STAT protein response to hydrogen peroxide T cell receptor binding CD4 receptor binding CD8 receptor binding identical protein binding alpha-tubulin binding positive regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle negative regulation of neuron apoptotic process phosphatidylinositol 3-kinase binding cell body ion channel binding macromolecular complex binding membrane raft response to ethanol protein autophosphorylation metal ion binding ephrin receptor binding vascular endothelial growth factor receptor signaling pathway ephrin receptor signaling pathway tau protein binding perinuclear region of cytoplasm dendrite morphogenesis tau-protein kinase activity regulation of defense response to virus by virus regulation of peptidyl-tyrosine phosphorylation activated T cell proliferation modulation of synaptic transmission T cell receptor signaling pathway leukocyte migration detection of mechanical stimulus involved in sensory perception of pain peptide hormone receptor binding positive regulation of protein kinase B signaling growth factor receptor binding cellular response to growth factor stimulus cellular response to peptide hormone stimulus cellular response to transforming growth factor beta stimulus cell periphery positive regulation of protein targeting to membrane perinuclear endoplasmic reticulum dendritic spine maintenance glial cell projection disordered domain specific binding glutamatergic synapse postsynaptic density, intracellular component positive regulation of protein localization to nucleus regulation of glutamate receptor signaling pathway positive regulation of neuron death negative regulation of dendritic spine maintenance negative regulation of oxidative stress-induced cell death positive regulation of non-membrane spanning protein tyrosine kinase activity response to beta-amyloid cellular response to beta-amyloid cellular response to L-glutamate cellular response to glycine positive regulation of protein localization to membrane regulation of calcium ion import across plasma membrane positive regulation of cysteine-type endopeptidase activity negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  uc003pvi.1 uc003pvi.2 uc003pvi.3 uc003pvi.4 
ENST00000229554.10 RSPH4A ENST00000229554.10 Homo sapiens radial spoke head component 4A (RSPH4A), transcript variant 1, mRNA. (from RefSeq NM_001010892) B4DSI1 ENST00000229554.1 ENST00000229554.2 ENST00000229554.3 ENST00000229554.4 ENST00000229554.5 ENST00000229554.6 ENST00000229554.7 ENST00000229554.8 ENST00000229554.9 NM_001010892 Q3KP24 Q5TD94 Q5TD95 RSH4A_HUMAN RSHL3 uc003pxe.1 uc003pxe.2 uc003pxe.3 uc003pxe.4 This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]. Probable component of the axonemal radial spoke head. Radial spokes are regularly spaced along cilia, sperm and flagella axonemes. They consist of a thin stalk which is attached to a subfiber of the outer doublet microtubule, and a bulbous head which is attached to the stalk and appears to interact with the projections from the central pair of microtubules. Cytoplasm, cytoskeleton, cilium axoneme (Probable). Note=Radial spoke (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5TD94-1; Sequence=Displayed; Note=Gene prediction based on EST data; Name=2; IsoId=Q5TD94-2; Sequence=VSP_030125; Note=Gene prediction based on EST data; Name=3; IsoId=Q5TD94-3; Sequence=VSP_030126, VSP_030127; Note=No experimental confirmation available; Defects in RSPH4A are the cause of primary ciliary dyskinesia type 11 (CILD11) [MIM:612649]. CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the flagellar radial spoke RSP4/6 family. radial spoke cilium movement molecular_function nucleus nucleoplasm nucleolus cytoplasm cytoskeleton cilium axoneme motile cilium axoneme assembly cell projection cilium assembly cilium movement involved in cell motility  uc003pxe.1 uc003pxe.2 uc003pxe.3 uc003pxe.4 
ENST00000229563.6 TMEM14C ENST00000229563.6 Homo sapiens transmembrane protein 14C (TMEM14C), transcript variant 2, mRNA. (from RefSeq NM_016462) C6orf53 ENST00000229563.1 ENST00000229563.2 ENST00000229563.3 ENST00000229563.4 ENST00000229563.5 HSPC194 NM_016462 Q5T4I6 Q9P0S9 TM14C_HUMAN uc003mzh.1 uc003mzh.2 uc003mzh.3 uc003mzh.4 uc003mzh.5 Required for normal heme biosynthesis (By similarity). Mitochondrion membrane; Multi-pass membrane protein (By similarity). Belongs to the UPF0136 (TMEM14) family. protein binding mitochondrion mitochondrial inner membrane heme biosynthetic process mitochondrial transport membrane integral component of membrane erythrocyte differentiation mitochondrial membrane regulation of heme biosynthetic process  uc003mzh.1 uc003mzh.2 uc003mzh.3 uc003mzh.4 uc003mzh.5 
ENST00000229570.9 SMIM8 ENST00000229570.9 Homo sapiens small integral membrane protein 8 (SMIM8), transcript variant 2, mRNA. (from RefSeq NM_020425) B2R4V6 C6orf162 CF162_HUMAN DC18 E1P505 ENST00000229570.1 ENST00000229570.2 ENST00000229570.3 ENST00000229570.4 ENST00000229570.5 ENST00000229570.6 ENST00000229570.7 ENST00000229570.8 NM_020425 Q5TEZ3 Q6NSD2 Q8IZ10 Q96KF7 uc003plq.1 uc003plq.2 uc003plq.3 Membrane; Single-pass membrane protein (Potential). Belongs to the UPF0708 family. Sequence=AAK38513.1; Type=Frameshift; Positions=87; membrane integral component of membrane  uc003plq.1 uc003plq.2 uc003plq.3 
ENST00000229583.9 ADTRP ENST00000229583.9 Homo sapiens androgen dependent TFPI regulating protein (ADTRP), transcript variant 1, mRNA. (from RefSeq NM_001143948) ADTRP_HUMAN B2R7T9 B4DV39 C6orf105 ENST00000229583.1 ENST00000229583.2 ENST00000229583.3 ENST00000229583.4 ENST00000229583.5 ENST00000229583.6 ENST00000229583.7 ENST00000229583.8 NM_001143948 Q5THW1 Q96IZ2 uc011dip.1 uc011dip.2 uc011dip.3 Regulates the expression and the cell-associated anticoagulant activity of the inhibitor TFPI in endothelial cells (in vitro). Cell membrane; Multi-pass membrane protein. Note=Colocalized with TFPI and CAV1 in lipid rafts. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96IZ2-1; Sequence=Displayed; Name=2; IsoId=Q96IZ2-2; Sequence=VSP_041965; Name=3; IsoId=Q96IZ2-3; Sequence=VSP_042868; Note=No experimental confirmation available; Expressed in cultured endothelial cells and in placenta. By androgens. Belongs to the AIG1 family. positive regulation of protein phosphorylation cell migration involved in sprouting angiogenesis negative regulation of leukocyte migration negative regulation of extracellular matrix constituent secretion plasma membrane caveola lipid metabolic process cell surface positive regulation of gene expression membrane integral component of membrane hydrolase activity negative regulation of blood coagulation long-chain fatty acid catabolic process protein kinase B signaling negative regulation of protein secretion cellular response to steroid hormone stimulus negative regulation of leukocyte cell-cell adhesion negative regulation of lymphocyte migration  uc011dip.1 uc011dip.2 uc011dip.3 
ENST00000229595.6 ASF1A ENST00000229595.6 Homo sapiens anti-silencing function 1A histone chaperone (ASF1A), mRNA. (from RefSeq NM_014034) ASF1A_HUMAN CGI-98 ENST00000229595.1 ENST00000229595.2 ENST00000229595.3 ENST00000229595.4 ENST00000229595.5 HSPC146 NM_014034 Q6IA08 Q9P014 Q9Y294 uc011ebn.1 uc011ebn.2 uc011ebn.3 uc011ebn.4 This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.80138.1, SRR1660805.154207.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229595.6/ ENSP00000229595.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Interacts with histone H3 (including both histone H3.1 and H3.3) and histone H4. Interacts with the CHAF1A, CHAF1B and RBBP4 subunits of the CAF-1 complex. Interacts with CABIN1, HAT1, HIRA, NASP, TAF1, TLK1, TLK2 and UBN1. P03372:ESR1; NbExp=2; IntAct=EBI-749553, EBI-78473; Nucleus. Ubiquitously expressed. Phosphorylated by TLK1 and TLK2. Highly phosphorylated in S- phase and at lower levels in M-phase. TLK2-mediated phosphorylation at Ser-192 prevents proteasome-dependent degradation. Belongs to the ASF1 family. nuclear chromatin osteoblast differentiation chromatin binding protein binding nucleus nucleoplasm DNA repair chromatin organization chromatin assembly or disassembly nucleosome assembly DNA replication-dependent nucleosome assembly DNA replication-independent nucleosome assembly negative regulation of chromatin silencing macromolecular complex histone binding muscle cell differentiation  uc011ebn.1 uc011ebn.2 uc011ebn.3 uc011ebn.4 
ENST00000229633.7 HINT3 ENST00000229633.7 Homo sapiens histidine triad nucleotide binding protein 3 (HINT3), mRNA. (from RefSeq NM_138571) B3KQ91 ENST00000229633.1 ENST00000229633.2 ENST00000229633.3 ENST00000229633.4 ENST00000229633.5 ENST00000229633.6 HINT3_HUMAN NM_138571 Q8N0Y9 Q9NQE9 uc003qal.1 uc003qal.2 uc003qal.3 uc003qal.4 uc003qal.5 uc003qal.6 Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: BX647228.1, SRR1660807.176584.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229633.7/ ENSP00000229633.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes phosphoramidate and acyl-adenylate substrates. Kinetic parameters: KM=1.5 uM for indolepropinoic acyl-adenylate; KM=22 uM for adenine; KM=29 uM for guanine; KM=32 uM for hypoxanthine; KM=121 uM for uracil; KM=181 uM for cytosine; Note=HINT3 prefers purine over pyrimidine-based substrates; Forms dimers to octamers and even larger oligomer. Cytoplasm. Nucleus. Note=Localized as aggregates in the cytoplasm and the nucleus. Belongs to the HINT family. Contains 1 HIT domain. nucleotide binding catalytic activity nucleus cytoplasm hydrolase activity identical protein binding protein homodimerization activity protein homotetramerization  uc003qal.1 uc003qal.2 uc003qal.3 uc003qal.4 uc003qal.5 uc003qal.6 
ENST00000229634.13 NCOA7 ENST00000229634.13 Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 5, mRNA. (from RefSeq NM_001199621) B2RNS2 B9EH71 ENST00000229634.1 ENST00000229634.10 ENST00000229634.11 ENST00000229634.12 ENST00000229634.2 ENST00000229634.3 ENST00000229634.4 ENST00000229634.5 ENST00000229634.6 ENST00000229634.7 ENST00000229634.8 ENST00000229634.9 ERAP140 ESNA1 NCOA7_HUMAN NM_001199621 Nbla00052 Nbla10993 Q3LID6 Q4G0V1 Q5TF95 Q6IPQ4 Q6NE83 Q86T89 Q8N1W4 Q8NI08 uc010ket.1 uc010ket.2 uc010ket.3 uc010ket.4 Enhances the transcriptional activities of several nuclear receptors. Involved in the coactivation of different nuclear receptors, such as ESR1, THRB, PPARG and RARA. Interacts with ESR1, ESR2A, ESR2B, THRB, PPARG and RARA in a ligand-inducible manner. Interacts with the heterodimer AHR- ARNT. P35869:AHR; NbExp=2; IntAct=EBI-80799, EBI-80780; P27540:ARNT; NbExp=2; IntAct=EBI-80799, EBI-80809; O95166:GABARAP; NbExp=4; IntAct=EBI-80799, EBI-712001; Q9H0R8:GABARAPL1; NbExp=2; IntAct=EBI-80799, EBI-746969; Nucleus (Probable). Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q8NI08-1; Sequence=Displayed; Name=2; IsoId=Q8NI08-2; Sequence=VSP_019638; Note=No experimental confirmation available; Name=3; IsoId=Q8NI08-3; Sequence=VSP_019637; Note=No experimental confirmation available; Name=4; IsoId=Q8NI08-4; Sequence=VSP_019635, VSP_019636; Note=No experimental confirmation available; Name=5; IsoId=Q8NI08-5; Sequence=VSP_019632, VSP_019639; Note=No experimental confirmation available; Name=6; IsoId=Q8NI08-6; Sequence=VSP_019633, VSP_019634; Note=No experimental confirmation available; Highly expressed in brain. Weakly expressed in mammary gland, ovary, uterus, prostate, stomach, bladder, spinal cord and pancreas. Expressed in cancer cell line. Belongs to the OXR1 family. Contains 1 LysM repeat. Contains 1 TLD domain. Sequence=CAD89948.1; Type=Frameshift; Positions=782; protein binding intracellular nucleus ligand-dependent nuclear receptor transcription coactivator activity nuclear hormone receptor binding positive regulation of transcription from RNA polymerase II promoter negative regulation of cellular response to oxidative stress negative regulation of peptidyl-cysteine S-nitrosylation negative regulation of oxidative stress-induced neuron death  uc010ket.1 uc010ket.2 uc010ket.3 uc010ket.4 
ENST00000229708.4 ULBP1 ENST00000229708.4 Homo sapiens UL16 binding protein 1 (ULBP1), transcript variant 3, non-coding RNA. (from RefSeq NR_133659) ENST00000229708.1 ENST00000229708.2 ENST00000229708.3 N2DL1 N2DL1_HUMAN NR_133659 Q5VY81 Q8IZW3 Q8IZX6 Q9BZM6 RAET1I uc003qnp.1 uc003qnp.2 uc003qnp.3 uc003qnp.4 uc003qnp.5 uc003qnp.6 The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. Ligand for the NKG2D receptor, together with at least ULBP2 and ULBP3. ULBPs activate multiple signaling pathways in primary NK cells, resulting in the production of cytokines and chemokines. Binding of ULBPs ligands to NKG2D induces calcium mobilization and activation of the JAK2, STAT5, ERK and PI3K kinase/Akt signal transduction pathway. In CMV infected cells, interacts with soluble CMV glycoprotein UL16. The interaction with UL16 blocked the interaction with the NKG2D receptor, providing a mechanism by which CMV infected cells might escape the immune system. UL16 also causes ULBP1 to be retained in the ER and cis- Golgi apparatus so that it does not reach the cell surface. Interacts with the CMV glycoprotein UL16. Does not bind to beta2-microglobulin. Cell membrane; Lipid-anchor, GPI-anchor. Endoplasmic reticulum. Note=Detected intracellularly in the endoplasmic reticulum of CMV-infected fibroblasts. Expressed in T-cells, B-cells, erythroleukemia cell lines and in a wide range of tissues including heart, brain, lung, liver, testis, lymph node, thymus, tonsil and bone marrow. Also found in fetal heart, brain, lung and liver. The ULBPs are unusual members of the extended MHC class I superfamily, because they do not contain the alpha 3 domain and they lack a transmembrane domain. They are unlikely to present peptides. Belongs to the MHC class I family. immune system process protein binding extracellular space endoplasmic reticulum cytosol plasma membrane immune response external side of plasma membrane actin cytoskeleton membrane viral process natural killer cell activation anchored component of membrane natural killer cell mediated cytotoxicity anchored component of plasma membrane natural killer cell lectin-like receptor binding regulation of immune response  uc003qnp.1 uc003qnp.2 uc003qnp.3 uc003qnp.4 uc003qnp.5 uc003qnp.6 
ENST00000229725.4 NEU1 ENST00000229725.4 Homo sapiens neuraminidase 1 (NEU1), mRNA. (from RefSeq NM_000434) ENST00000229725.1 ENST00000229725.2 ENST00000229725.3 NANH NEUR1_HUMAN NM_000434 Q99519 uc302whk.1 The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.50482.1, SRR1803611.166177.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000375631.5/ ENSP00000364782.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates. pH dependence: Optimum pH is 4.6; Interacts with cathepsin A (protective protein), beta- galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex. Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles. Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain. A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes. N-glycosylated. Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane. Defects in NEU1 are the cause of sialidosis (SIALIDOSIS) [MIM:256550]. It is a lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. Belongs to the glycosyl hydrolase 33 family. Contains 4 BNR repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEU1"; Name=Wikipedia; Note=Neuraminidase entry; URL="http://en.wikipedia.org/wiki/Neuraminidase"; exo-alpha-sialidase activity protein binding extracellular region cytoplasm lysosome lysosomal membrane plasma membrane carbohydrate metabolic process lipid metabolic process glycosphingolipid metabolic process ganglioside catabolic process metabolic process oligosaccharide catabolic process membrane lipid catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds alpha-sialidase activity cell junction cytoplasmic vesicle specific granule lumen lysosomal lumen intracellular membrane-bounded organelle neutrophil degranulation exo-alpha-(2->3)-sialidase activity exo-alpha-(2->6)-sialidase activity exo-alpha-(2->8)-sialidase activity extracellular exosome  uc302whk.1 
ENST00000229729.11 SLC44A4 ENST00000229729.11 Homo sapiens solute carrier family 44 member 4 (SLC44A4), transcript variant 1, mRNA. (from RefSeq NM_025257) A2BED3 B0UXX8 B0UZY8 C6orf29 CTL4 CTL4_HUMAN ENST00000229729.1 ENST00000229729.10 ENST00000229729.2 ENST00000229729.3 ENST00000229729.4 ENST00000229729.5 ENST00000229729.6 ENST00000229729.7 ENST00000229729.8 ENST00000229729.9 NG22 NM_025257 Q53GD3 Q5JP84 Q5JQ93 Q658S8 Q6UX89 Q8TEW4 Q96C58 Q96K59 Q9Y332 UNQ441/PRO874 uc010jti.1 uc010jti.2 uc010jti.3 uc010jti.4 uc010jti.5 The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]. Membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53GD3-1; Sequence=Displayed; Name=2; IsoId=Q53GD3-2; Sequence=VSP_030998; Note=No experimental confirmation available; Note=An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis. Belongs to the CTL (choline transporter-like) family. plasma membrane phosphatidylcholine biosynthetic process acetylcholine biosynthetic process choline transmembrane transporter activity choline transport membrane integral component of membrane apical plasma membrane positive regulation of cell growth thiamine pyrophosphate transport otolith formation neuromast hair cell development transmembrane transport acetylcholine secretion extracellular exosome thiamine pyrophosphate transporter activity  uc010jti.1 uc010jti.2 uc010jti.3 uc010jti.4 uc010jti.5 
ENST00000229758.8 FBXO5 ENST00000229758.8 Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA. (from RefSeq NM_012177) B3KNX5 EMI1 ENST00000229758.1 ENST00000229758.2 ENST00000229758.3 ENST00000229758.4 ENST00000229758.5 ENST00000229758.6 ENST00000229758.7 FBX5 FBX5_HUMAN NM_012177 Q5TF47 Q8WV29 Q9UGC8 Q9UKT4 uc003qpg.1 uc003qpg.2 uc003qpg.3 uc003qpg.4 uc003qpg.5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]. Regulates progression through early mitosis by inhibiting the anaphase promoting complex/cyclosome (APC). Binds to the APC activators CDC20 and FZR1/CDH1 to prevent APC activation. Can also bind directly to the APC to inhibit substrate-binding. Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity). Interacts with BTRC, FZR1/CDH1 and the N-terminal substrate-binding domain of CDC20. Also interacts with EVI5 which blocks its phosphorylation by PLK1 and prevents its subsequent binding to BTRC and degradation. P30260:CDC27; NbExp=2; IntAct=EBI-852298, EBI-994813; O60447:EVI5; NbExp=6; IntAct=EBI-852298, EBI-852291; Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=In interphase, localizes in a punctate manner in the nucleus and cytoplasm with some perinuclear concentration. In mitotic cells, localizes throughout the cell, particularly at the spindle. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UKT4-1; Sequence=Displayed; Name=2; IsoId=Q9UKT4-2; Sequence=VSP_041362; Accumulates in late G1 phase, levels rise during S phase and drop in early mitosis. The C-terminal region is required for inhibition of APC activity. Phosphorylation by CDK2 and subsequently by PLK1 triggers degradation during early mitosis through ubiquitin-mediated proteolysis by the SCF ubiquitin ligase complex containing the F- box protein BTRC. This degradation is necessary for the activation of APC in late mitosis and subsequent mitotic progression. Ubiquitinated by the by the SCF(BTRC) complex following phosphorylation by PLK1. Contains 1 F-box domain. Contains 1 IBR-type zinc finger. regulation of transcription involved in G1/S transition of mitotic cell cycle oocyte maturation protein binding nucleus nucleoplasm cytoplasm spindle cytosol cytoskeleton regulation of DNA replication cell cycle spindle assembly involved in female meiosis I regulation of mitotic cell cycle positive regulation of cell proliferation positive regulation of G2/M transition of mitotic cell cycle anaphase-promoting complex binding vesicle organization protein ubiquitination protein kinase binding anaphase-promoting complex-dependent catabolic process negative regulation of DNA endoreduplication regulation of meiotic nuclear division positive regulation of osteoblast differentiation negative regulation of meiotic nuclear division negative regulation of mitotic metaphase/anaphase transition microtubule polymerization metal ion binding spindle assembly cell division negative regulation of ubiquitin-protein transferase activity positive regulation of biomineral tissue development meiotic spindle regulation of mitotic cell cycle phase transition negative regulation of ubiquitin protein ligase activity positive regulation of mesenchymal stem cell migration ubiquitin ligase inhibitor activity negative regulation of cellular senescence negative regulation of response to DNA damage stimulus  uc003qpg.1 uc003qpg.2 uc003qpg.3 uc003qpg.4 uc003qpg.5 
ENST00000229768.9 OPRM1 ENST00000229768.9 Homo sapiens opioid receptor mu 1 (OPRM1), transcript variant MOR-1X, mRNA. (from RefSeq NM_001008505) B0FXJ1 B2R9S7 B8Q1L7 B8Q1L8 B8Q1L9 ENST00000229768.1 ENST00000229768.2 ENST00000229768.3 ENST00000229768.4 ENST00000229768.5 ENST00000229768.6 ENST00000229768.7 ENST00000229768.8 G8XRH6 G8XRH8 MOR1 NM_001008505 OPRM_HUMAN P35372 Q12930 Q4VWM1 Q4VWM2 Q4VWM3 Q4VWM4 Q4VWM6 Q4VWX6 Q5TDA1 Q6UPP1 Q6UQ80 Q7Z2D8 Q86V80 Q8IWW3 Q8IWW4 Q9UCZ4 Q9UN57 uc003qpo.1 uc003qpo.2 uc003qpo.3 This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013]. Receptor for endogenous opioids such as beta-endorphin and endomorphin. Receptor for natural and synthetic opioids including morphine, heroin, DAMGO, fentanyl, etorphine, buprenorphin and methadone. Agonist binding to the receptor induces coupling to an inactive GDP-bound heterotrimeric G-protein complex and subsequent exchange of GDP for GTP in the G-protein alpha subunit leading to dissociation of the G-protein complex with the free GTP-bound G-protein alpha and the G-protein beta- gamma dimer activating downstream cellular effectors. The agonist- and cell type-specific activity is predominantly coupled to pertussis toxin-sensitive G(i) and G(o) G alpha proteins, GNAI1, GNAI2, GNAI3 and GNAO1 isoforms Alpha-1 and Alpha-2, and to a lesser extend to pertussis toxin-insensitive G alpha proteins GNAZ and GNA15. They mediate an array of downstream cellular responses, including inhibition of adenylate cyclase activity and both N-type and L-type calcium channels, activation of inward rectifying potassium channels, mitogen-activated protein kinase (MAPK), phospholipase C (PLC), phosphoinositide/protein kinase (PKC), phosphoinositide 3-kinase (PI3K) and regulation of NF-kappa-B. Also couples to adenylate cyclase stimulatory G alpha proteins. The selective temporal coupling to G-proteins and subsequent signaling can be regulated by RGSZ proteins, such as RGS9, RGS17 and RGS4. Phosphorylation by members of the GPRK subfamily of Ser/Thr protein kinases and association with beta-arrestins is involved in short-term receptor desensitization. Beta-arrestins associate with the GPRK-phosphorylated receptor and uncouple it from the G-protein thus terminating signal transduction. The phosphorylated receptor is internalized through endocytosis via clathrin-coated pits which involves beta-arrestins. The activation of the ERK pathway occurs either in a G-protein-dependent or a beta-arrestin-dependent manner and is regulated by agonist- specific receptor phosphorylation. Acts as a class A G-protein coupled receptor (GPCR) which dissociates from beta-arrestin at or near the plasma membrane and undergoes rapid recycling. Receptor down-regulation pathways are varying with the agonist and occur dependent or independent of G-protein coupling. Endogenous ligands induce rapid desensitization, endocytosis and recycling whereas morphine induces only low desensitization and endocytosis. Heterooligomerization with other GPCRs can modulate agonist binding, signaling and trafficking properties. Involved in neurogenesis. Isoform 12 couples to GNAS and is proposed to be involved in excitatory effects. Isoform 16 and isoform 17 do not bind agonists but may act through oligomerization with binding- competent OPRM1 isoforms and reduce their ligand binding activity. Forms homooligomers and heterooligomers with other GPCRs, such as OPRD1, OPRK1, OPRL1, NPFFR2, ADRA2A, SSTR2, CNR1 and CCR5 (probably in dimeric forms). Interacts with PPL; the interaction disrupts agonist-mediated G-protein activation. Interacts (via C- terminus) with DNAJB4 (via C-terminus). Interacts with calmodulin; the interaction inhibits the constitutive activity of OPRM1; it abolishes basal and attenuates agonist-stimulated G-protein coupling. Interacts with FLNA, PLD2, RANBP9 and WLS. Interacts with GPM6A, RTP4, SYP, GNAS, RGS9, RGS17, RGS20, RGS4, PPP1R9B and HINT1 (By similarity). P21333:FLNA; NbExp=5; IntAct=EBI-2624570, EBI-350432; Q5T9L3:WLS; NbExp=7; IntAct=EBI-2624570, EBI-2868748; Cell membrane; Multi-pass membrane protein. Isoform 12: Cytoplasm. Event=Alternative splicing; Named isoforms=17; Comment=Additional isoforms seem to exist; Name=1; IsoId=P35372-1; Sequence=Displayed; Name=2; Synonyms=MOR1A, MOR-1A; IsoId=P35372-2; Sequence=VSP_001896; Name=3; Synonyms=MOR-1R, MOR-1X; IsoId=P35372-3; Sequence=VSP_037695; Note=Ref.4 (AAK74189) sequence is in conflict in position: 402:Q->H; Name=4; Synonyms=MOR-1B3; IsoId=P35372-4; Sequence=VSP_037696; Name=5; Synonyms=MOR-1C, MOR-1O; IsoId=P35372-5; Sequence=VSP_037697; Name=6; Synonyms=MOR-1V, MOR-1Y, MOR-1Y2, MOR-1Y3; IsoId=P35372-6; Sequence=VSP_037698; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=7; Synonyms=MOR-1B1; IsoId=P35372-7; Sequence=VSP_037699; Name=8; Synonyms=MOR-1B2; IsoId=P35372-8; Sequence=VSP_037700; Name=9; Synonyms=MOR-1B5; IsoId=P35372-9; Sequence=VSP_037701; Note=Ref.5 (AAQ77392) sequence differs from that shown due to a polymorphism leading to premature termination of translation (position: 411:Q->Stop); Name=10; Synonyms=MOR-1i; IsoId=P35372-10; Sequence=VSP_037693; Name=11; Synonyms=MOR-1B4; IsoId=P35372-11; Sequence=VSP_037694; Name=12; Synonyms=MOR-1G1, MOR-1K; IsoId=P35372-12; Sequence=VSP_042327; Name=13; Synonyms=MOR-1G2; IsoId=P35372-13; Sequence=VSP_042328; Name=14; Synonyms=Mu3; IsoId=P35372-14; Sequence=VSP_042327, VSP_042331; Name=15; Synonyms=MOR-1W; IsoId=P35372-15; Sequence=VSP_042327, VSP_001896; Name=16; Synonyms=SV1; IsoId=P35372-16; Sequence=VSP_042330; Name=17; Synonyms=SV2; IsoId=P35372-17; Sequence=VSP_042329; Expressed in brain. Isoform 16 and isoform 17 are detected in brain. Phosphorylated. Differentially phosphorylated in basal and agonist-induced conditions. Agonist-mediated phosphorylation modulates receptor internalization. Phosphorylated by ADRBK1 in a agonist-dependent manner. Phosphorylation at Tyr-168 requires receptor activation, is dependent on non-receptor protein tyrosine kinase Src and results in a decrease in agonist efficacy by reducing G-protein coupling efficiency. Phosphorylated on tyrosine residues; the phosphorylation is involved in agoinist-induced G- protein-indepenedent receptor down-regulation. Phosphorylation at Ser-377 is involved in G-protein-dependent but not beta-arrestin- dependent activation of the ERK pathway (By similarity). Ubiquitinated. A basal ubiquitination seems not to be related to degradation. Ubiquitination is increased upon formation of OPRM1:OPRD1 oligomers leading to proteasomal degradation; the ubiquitination is diminished by RTP4 (By similarity). Variant Asp-40 does not show altered binding affinities for most opioid peptides and alkaloids tested, but it binds beta-endorphin, an endogenous opioid that activates the mu opioid receptor, approximately 3 times more tightly than the most common allelic form. OPRM1 is the main physiological target for most clinically important opioid analgesics. OPRM1-mediated inhibition of voltage-gated calcium channels on central presynaptic terminals of primary afferent nociceptors is thought to be one of the primary mechanisms mediating analgesia at the spinal level. Opioid-induced hyperalgesic responses are observed following both acute and chronic dosing associated with cellular excitation. Belongs to the G-protein coupled receptor 1 family. Sequence=CAI20458.1; Type=Erroneous initiation; Sequence=EAW47705.1; Type=Erroneous initiation; Name=Wikipedia; Note=Mu opioid receptor entry; URL="http://en.wikipedia.org/wiki/Mu_opioid_receptor"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/oprm1/"; G-protein alpha-subunit binding acute inflammatory response to antigenic stimulus G-protein coupled receptor activity beta-endorphin receptor activity opioid receptor activity voltage-gated calcium channel activity protein binding cell cytoplasm endosome endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane focal adhesion signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-activating dopamine receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration neuropeptide signaling pathway sensory perception locomotory behavior protein C-terminus binding negative regulation of cell proliferation response to radiation membrane integral component of membrane cytokine-mediated signaling pathway sensory perception of pain protein domain specific binding axon dendrite filamin binding adenylate cyclase-inhibiting opioid receptor signaling pathway G-protein beta-subunit binding response to food positive regulation of appetite response to lipopolysaccharide dendrite membrane dendrite cytoplasm opioid receptor signaling pathway morphine receptor activity wound healing response to cocaine peptide binding sarcolemma eating behavior neuropeptide binding cell projection perikaryon response to morphine positive regulation of cAMP-mediated signaling negative regulation of cAMP-mediated signaling estrous cycle negative regulation of nitric oxide biosynthetic process membrane raft positive regulation of nitric oxide biosynthetic process response to ethanol behavioral response to ethanol positive regulation of neurogenesis negative regulation of cytosolic calcium ion concentration regulation of sensory perception of pain excitatory postsynaptic potential negative regulation of Wnt protein secretion positive regulation of ERK1 and ERK2 cascade calcium ion transmembrane transport response to growth factor cellular response to morphine regulation of cellular response to stress spine apparatus integral component of postsynaptic membrane integral component of presynaptic membrane regulation of N-methyl-D-aspartate selective glutamate receptor activity  uc003qpo.1 uc003qpo.2 uc003qpo.3 
ENST00000229769.3 FANCE ENST00000229769.3 Homo sapiens FA complementation group E (FANCE), mRNA. (from RefSeq NM_021922) A8K907 ENST00000229769.1 ENST00000229769.2 FACE FANCE_HUMAN NM_021922 Q4ZGH2 Q9HB96 uc003oko.1 uc003oko.2 uc003oko.3 The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF265210.1, BC046359.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229769.3/ ENSP00000229769.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with FANCC and FANCD2. Q00597:FANCC; NbExp=3; IntAct=EBI-396803, EBI-81625; Q9BXW9:FANCD2; NbExp=4; IntAct=EBI-396803, EBI-359343; Nucleus. Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser- 374 regulates its function in DNA cross-links repair. Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation. Defects in FANCE are a cause of Fanconi anemia complementation group E (FANCE) [MIM:600901]. A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FANCEID293.html"; Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpe.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCE"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fance/"; molecular_function nucleus nucleoplasm DNA repair cellular response to DNA damage stimulus interstrand cross-link repair Fanconi anaemia nuclear complex  uc003oko.1 uc003oko.2 uc003oko.3 
ENST00000229771.11 TULP1 ENST00000229771.11 Homo sapiens TUB like protein 1 (TULP1), transcript variant 1, mRNA. (from RefSeq NM_003322) ENST00000229771.1 ENST00000229771.10 ENST00000229771.2 ENST00000229771.3 ENST00000229771.4 ENST00000229771.5 ENST00000229771.6 ENST00000229771.7 ENST00000229771.8 ENST00000229771.9 NM_003322 O00294 O43536 Q5TGM5 Q8N571 TUBL1 TULP1_HUMAN uc003okv.1 uc003okv.2 uc003okv.3 uc003okv.4 uc003okv.5 uc003okv.6 uc003okv.7 This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]. Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. Homodimer (Probable). May interact with ABCF1, PSIP1, ZEB1 and HMGB2 (Potential). Interacts with DNM1 (By similarity). Interacts with F-actin. Interacts with TUB (By similarity). P16333:NCK1; NbExp=2; IntAct=EBI-1756778, EBI-389883; Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted (By similarity). Cell junction, synapse (By similarity). Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O00294-1; Sequence=Displayed; Name=2; IsoId=O00294-2; Sequence=VSP_023031; Retina-specific. Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) [MIM:600132]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP14 inheritance is autosomal recessive. Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15) [MIM:613843]. LCA15 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the TUB family. Sequence=CAI20251.1; Type=Erroneous gene model prediction; Name=Mutations of the TULP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/tulpmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TULP1"; photoreceptor outer segment retina homeostasis photoreceptor inner segment protein binding phosphatidylinositol-4,5-bisphosphate binding extracellular region cytoplasm cytosol plasma membrane cilium phagocytosis phagocytosis, recognition visual perception membrane vesicle-mediated transport dendrite development cell junction eye photoreceptor cell development cell projection axon terminus synapse photoreceptor cell maintenance positive regulation of phagocytosis response to stimulus detection of light stimulus involved in visual perception actin filament binding retina development in camera-type eye protein localization to cilium protein localization to photoreceptor outer segment  uc003okv.1 uc003okv.2 uc003okv.3 uc003okv.4 uc003okv.5 uc003okv.6 uc003okv.7 
ENST00000229794.9 MAPK14 ENST00000229794.9 Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA. (from RefSeq NM_139012) A6ZJ92 A8K6P4 B0LPH0 CSBP CSBP1 CSBP2 CSPB1 ENST00000229794.1 ENST00000229794.2 ENST00000229794.3 ENST00000229794.4 ENST00000229794.5 ENST00000229794.6 ENST00000229794.7 ENST00000229794.8 MK14_HUMAN MXI2 NM_139012 O60776 Q13083 Q14084 Q16539 Q8TDX0 SAPK2A uc003olq.1 uc003olq.2 uc003olq.3 uc003olq.4 uc003olq.5 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. MAPK14 interacts also with casein kinase II, leading to its activation through autophosphorylation and further phosphorylation of TP53/p53. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF- induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. In a similar way, MAPK14 phosphorylates the ubiquitin ligase SIAH2, regulating its activity towards EGLN3. MAPK14 may also inhibit the lysosomal degradation pathway of autophagy by interfering with the intracellular trafficking of the transmembrane protein ATG9. Another function of MAPK14 is to regulate the endocytosis of membrane receptors by different mechanisms that impinge on the small GTPase RAB5A. In addition, clathrin-mediated EGFR internalization induced by inflammatory cytokines and UV irradiation depends on MAPK14- mediated phosphorylation of EGFR itself as well as of RAB5A effectors. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Another p38 MAPK substrate is FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF- kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates CDC25B and CDC25C which is required for binding to 14-3-3 proteins and leads to initiation of a G2 delay after ultraviolet radiation. Phosphorylates TIAR following DNA damage, releasing TIAR from GADD45A mRNA and preventing mRNA degradation. The p38 MAPKs may also have kinase-independent roles, which are thought to be due to the binding to targets in the absence of phosphorylation. Protein O-Glc-N-acylation catalyzed by the OGT is regulated by MAPK14, and, although OGT does not seem to be phosphorylated by MAPK14, their interaction increases upon MAPK14 activation induced by glucose deprivation. This interaction may regulate OGT activity by recruiting it to specific targets such as neurofilament H, stimulating its O-Glc-N-acylation. Required in mid-fetal development for the growth of embryo-derived blood vessels in the labyrinth layer of the placenta. Also plays an essential role in developmental and stress-induced erythropoiesis, through regulation of EPO gene expression. Isoform MXI2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2. Isoform EXIP may play a role in the early onset of apoptosis. Phosphorylates S100A9 at 'Thr-113'. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated by cell stresses such as DNA damage, heat shock, osmotic shock, anisomycin and sodium arsenite, as well as pro-inflammatory stimuli such as bacterial lipopolysaccharide (LPS) and interleukin-1. Activation occurs through dual phosphorylation of Thr-180 and Tyr-182 by either of two dual specificity kinases, MAP2K3/MKK3 or MAP2K6/MKK6, and potentially also MAP2K4/MKK4, as well as by TAB1-mediated autophosphorylation. MAPK14 phosphorylated on both Thr-180 and Tyr-182 is 10-20-fold more active than MAPK14 phosphorylated only on Thr-180, whereas MAPK14 phosphorylated on Tyr-182 alone is inactive. whereas Thr- 180 is necessary for catalysis, Tyr-182 may be required for auto- activation and substrate recognition. Phosphorylated at Tyr-323 by ZAP70 in an alternative activation pathway in response to TCR signaling in T-cells. This alternative pathway is inhibited by GADD45A. Inhibited by dual specificity phosphatases, such as DUSP1, DUSP10, and DUSP16. Specifically inhibited by the binding of pyridinyl-imidazole compounds, which are cytokine-suppressive anti-inflammatory drugs (CSAID). Isoform Mxi2 is 100-fold less sensitive to these agents than the other isoforms and is not inhibited by DUSP1. Isoform Exip is not activated by MAP2K6. SB203580 is an inhibitor of MAPK14. Binds to a kinase interaction motif within the protein tyrosine phosphatase, PTPRR (By similarity). This interaction retains MAPK14 in the cytoplasm and prevents nuclear accumulation (By similarity). Interacts with SPAG9 and GADD45A (By similarity). Interacts with CDC25B, CDC25C, DUSP1, DUSP10, DUSP16, NP60, FAM48A and TAB1. Interacts with casein kinase II subunits CSNK2A1 and CSNK2B. Q8NEM7:FAM48A; NbExp=5; IntAct=EBI-73946, EBI-946984; P49137:MAPKAPK2; NbExp=2; IntAct=EBI-73946, EBI-993299; P06400:RB1; NbExp=3; IntAct=EBI-73946, EBI-491274; O75676:RPS6KA4; NbExp=2; IntAct=EBI-73946, EBI-73933; Q92574:TSC1; NbExp=2; IntAct=EBI-73946, EBI-1047085; Q07352:ZFP36L1; NbExp=2; IntAct=EBI-73946, EBI-721823; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=4; Name=CSBP2; IsoId=Q16539-1; Sequence=Displayed; Name=CSBP1; IsoId=Q16539-2; Sequence=VSP_004842; Name=Mxi2; IsoId=Q16539-3; Sequence=VSP_004844; Name=Exip; Synonyms=Exon skip; IsoId=Q16539-4; Sequence=VSP_004843, VSP_004845; Brain, heart, placenta, pancreas and skeletal muscle. Expressed to a lesser extent in lung, liver and kidney. The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases. Dually phosphorylated on Thr-180 and Tyr-182 by the MAP2Ks MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6 in response to inflammatory citokines, environmental stress or growth factors, which a ctivates the enzyme. Dual phosphorylation can also be mediated by TAB1-mediated autophosphorylation. TCR engagement in T-cells also leads to Tyr-323 phosphorylation by ZAP70. Dephosphorylated and inactivated by DUPS1, DUSP10 and DUSP16. Acetylated at Lys-53 and Lys-152 by KAT2B and EP300. Acetylation at Lys-53 increases the affinity for ATP and enhances kinase activity. Lys-53 and Lys-152 are deacetylated by HDAC3. Ubiquitinated. Ubiquitination leads to degradation by the proteasome pathway. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. Name=Wikipedia; Note=P38 mitogen-activated protein kinases entry; URL="http://en.wikipedia.org/wiki/P38_mitogen-activated_protein_kinases"; DNA damage checkpoint nucleotide binding activation of MAPK activity cell morphogenesis spindle pole cartilage condensation angiogenesis placenta development chondrocyte differentiation positive regulation of cytokine secretion involved in immune response protein kinase activity protein serine/threonine kinase activity MAP kinase activity MAP kinase kinase activity protein binding ATP binding extracellular region cell nucleus nucleoplasm cytoplasm mitochondrion cytosol glucose metabolic process regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein phosphorylation apoptotic process chemotaxis cellular response to DNA damage stimulus signal transduction cell surface receptor signaling pathway transmembrane receptor protein serine/threonine kinase signaling pathway Ras protein signal transduction skeletal muscle tissue development regulation of gene expression positive regulation of gene expression positive regulation of macrophage chemotaxis positive regulation of myotube differentiation kinase activity phosphorylation nuclear speck transferase activity peptidyl-serine phosphorylation fatty acid oxidation enzyme binding protein phosphatase binding regulation of ossification osteoclast differentiation positive regulation of cyclase activity lipopolysaccharide-mediated signaling pathway response to muramyl dipeptide response to lipopolysaccharide secretory granule lumen intracellular signal transduction cellular response to vascular endothelial growth factor stimulus response to muscle stretch p38MAPK cascade positive regulation of protein import into nucleus signal transduction in response to DNA damage neutrophil degranulation positive regulation of erythrocyte differentiation positive regulation of myoblast differentiation positive regulation of transcription from RNA polymerase II promoter positive regulation of glucose import vascular endothelial growth factor receptor signaling pathway mitogen-activated protein kinase p38 binding regulation of sequence-specific DNA binding transcription factor activity striated muscle cell differentiation positive regulation of muscle cell differentiation NFAT protein binding positive regulation of cardiac muscle cell proliferation 3'-UTR-mediated mRNA stabilization cellular response to lipopolysaccharide cellular response to lipoteichoic acid cellular response to tumor necrosis factor cellular response to ionizing radiation negative regulation of canonical Wnt signaling pathway positive regulation of brown fat cell differentiation stress-induced premature senescence cellular response to virus glutamatergic synapse regulation of cytokine production involved in inflammatory response positive regulation of myoblast fusion regulation of signal transduction by p53 class mediator ficolin-1-rich granule lumen positive regulation of metallopeptidase activity positive regulation of reactive oxygen species metabolic process positive regulation of interleukin-12 secretion positive regulation of blood vessel endothelial cell migration  uc003olq.1 uc003olq.2 uc003olq.3 uc003olq.4 uc003olq.5 
ENST00000229795.8 MAPK14 ENST00000229795.8 Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 1, mRNA. (from RefSeq NM_001315) A6ZJ92 A8K6P4 B0LPH0 CSBP CSBP1 CSBP2 CSPB1 ENST00000229795.1 ENST00000229795.2 ENST00000229795.3 ENST00000229795.4 ENST00000229795.5 ENST00000229795.6 ENST00000229795.7 MK14_HUMAN MXI2 NM_001315 O60776 Q13083 Q14084 Q16539 Q8TDX0 SAPK2A uc003olp.1 uc003olp.2 uc003olp.3 uc003olp.4 uc003olp.5 The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK14 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as proinflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. RPS6KA5/MSK1 and RPS6KA4/MSK2 play important roles in the rapid induction of immediate-early genes in response to stress or mitogenic stimuli, either by inducing chromatin remodeling or by recruiting the transcription machinery. On the other hand, two other kinase targets, MAPKAPK2/MK2 and MAPKAPK3/MK3, participate in the control of gene expression mostly at the post-transcriptional level, by phosphorylating ZFP36 (tristetraprolin) and ELAVL1, and by regulating EEF2K, which is important for the elongation of mRNA during translation. MKNK1/MNK1 and MKNK2/MNK2, two other kinases activated by p38 MAPKs, regulate protein synthesis by phosphorylating the initiation factor EIF4E2. MAPK14 interacts also with casein kinase II, leading to its activation through autophosphorylation and further phosphorylation of TP53/p53. In the cytoplasm, the p38 MAPK pathway is an important regulator of protein turnover. For example, CFLAR is an inhibitor of TNF- induced apoptosis whose proteasome-mediated degradation is regulated by p38 MAPK phosphorylation. In a similar way, MAPK14 phosphorylates the ubiquitin ligase SIAH2, regulating its activity towards EGLN3. MAPK14 may also inhibit the lysosomal degradation pathway of autophagy by interfering with the intracellular trafficking of the transmembrane protein ATG9. Another function of MAPK14 is to regulate the endocytosis of membrane receptors by different mechanisms that impinge on the small GTPase RAB5A. In addition, clathrin-mediated EGFR internalization induced by inflammatory cytokines and UV irradiation depends on MAPK14- mediated phosphorylation of EGFR itself as well as of RAB5A effectors. Ectodomain shedding of transmembrane proteins is regulated by p38 MAPKs as well. In response to inflammatory stimuli, p38 MAPKs phosphorylate the membrane-associated metalloprotease ADAM17. Such phosphorylation is required for ADAM17-mediated ectodomain shedding of TGF-alpha family ligands, which results in the activation of EGFR signaling and cell proliferation. Another p38 MAPK substrate is FGFR1. FGFR1 can be translocated from the extracellular space into the cytosol and nucleus of target cells, and regulates processes such as rRNA synthesis and cell growth. FGFR1 translocation requires p38 MAPK activation. In the nucleus, many transcription factors are phosphorylated and activated by p38 MAPKs in response to different stimuli. Classical examples include ATF1, ATF2, ATF6, ELK1, PTPRH, DDIT3, TP53/p53 and MEF2C and MEF2A. The p38 MAPKs are emerging as important modulators of gene expression by regulating chromatin modifiers and remodelers. The promoters of several genes involved in the inflammatory response, such as IL6, IL8 and IL12B, display a p38 MAPK-dependent enrichment of histone H3 phosphorylation on 'Ser-10' (H3S10ph) in LPS-stimulated myeloid cells. This phosphorylation enhances the accessibility of the cryptic NF- kappa-B-binding sites marking promoters for increased NF-kappa-B recruitment. Phosphorylates CDC25B and CDC25C which is required for binding to 14-3-3 proteins and leads to initiation of a G2 delay after ultraviolet radiation. Phosphorylates TIAR following DNA damage, releasing TIAR from GADD45A mRNA and preventing mRNA degradation. The p38 MAPKs may also have kinase-independent roles, which are thought to be due to the binding to targets in the absence of phosphorylation. Protein O-Glc-N-acylation catalyzed by the OGT is regulated by MAPK14, and, although OGT does not seem to be phosphorylated by MAPK14, their interaction increases upon MAPK14 activation induced by glucose deprivation. This interaction may regulate OGT activity by recruiting it to specific targets such as neurofilament H, stimulating its O-Glc-N-acylation. Required in mid-fetal development for the growth of embryo-derived blood vessels in the labyrinth layer of the placenta. Also plays an essential role in developmental and stress-induced erythropoiesis, through regulation of EPO gene expression. Isoform MXI2 activation is stimulated by mitogens and oxidative stress and only poorly phosphorylates ELK1 and ATF2. Isoform EXIP may play a role in the early onset of apoptosis. Phosphorylates S100A9 at 'Thr-113'. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated by cell stresses such as DNA damage, heat shock, osmotic shock, anisomycin and sodium arsenite, as well as pro-inflammatory stimuli such as bacterial lipopolysaccharide (LPS) and interleukin-1. Activation occurs through dual phosphorylation of Thr-180 and Tyr-182 by either of two dual specificity kinases, MAP2K3/MKK3 or MAP2K6/MKK6, and potentially also MAP2K4/MKK4, as well as by TAB1-mediated autophosphorylation. MAPK14 phosphorylated on both Thr-180 and Tyr-182 is 10-20-fold more active than MAPK14 phosphorylated only on Thr-180, whereas MAPK14 phosphorylated on Tyr-182 alone is inactive. whereas Thr- 180 is necessary for catalysis, Tyr-182 may be required for auto- activation and substrate recognition. Phosphorylated at Tyr-323 by ZAP70 in an alternative activation pathway in response to TCR signaling in T-cells. This alternative pathway is inhibited by GADD45A. Inhibited by dual specificity phosphatases, such as DUSP1, DUSP10, and DUSP16. Specifically inhibited by the binding of pyridinyl-imidazole compounds, which are cytokine-suppressive anti-inflammatory drugs (CSAID). Isoform Mxi2 is 100-fold less sensitive to these agents than the other isoforms and is not inhibited by DUSP1. Isoform Exip is not activated by MAP2K6. SB203580 is an inhibitor of MAPK14. Binds to a kinase interaction motif within the protein tyrosine phosphatase, PTPRR (By similarity). This interaction retains MAPK14 in the cytoplasm and prevents nuclear accumulation (By similarity). Interacts with SPAG9 and GADD45A (By similarity). Interacts with CDC25B, CDC25C, DUSP1, DUSP10, DUSP16, NP60, FAM48A and TAB1. Interacts with casein kinase II subunits CSNK2A1 and CSNK2B. Q8NEM7:FAM48A; NbExp=5; IntAct=EBI-73946, EBI-946984; P49137:MAPKAPK2; NbExp=2; IntAct=EBI-73946, EBI-993299; P06400:RB1; NbExp=3; IntAct=EBI-73946, EBI-491274; O75676:RPS6KA4; NbExp=2; IntAct=EBI-73946, EBI-73933; Q92574:TSC1; NbExp=2; IntAct=EBI-73946, EBI-1047085; Q07352:ZFP36L1; NbExp=2; IntAct=EBI-73946, EBI-721823; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=4; Name=CSBP2; IsoId=Q16539-1; Sequence=Displayed; Name=CSBP1; IsoId=Q16539-2; Sequence=VSP_004842; Name=Mxi2; IsoId=Q16539-3; Sequence=VSP_004844; Name=Exip; Synonyms=Exon skip; IsoId=Q16539-4; Sequence=VSP_004843, VSP_004845; Brain, heart, placenta, pancreas and skeletal muscle. Expressed to a lesser extent in lung, liver and kidney. The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases. Dually phosphorylated on Thr-180 and Tyr-182 by the MAP2Ks MAP2K3/MKK3, MAP2K4/MKK4 and MAP2K6/MKK6 in response to inflammatory citokines, environmental stress or growth factors, which a ctivates the enzyme. Dual phosphorylation can also be mediated by TAB1-mediated autophosphorylation. TCR engagement in T-cells also leads to Tyr-323 phosphorylation by ZAP70. Dephosphorylated and inactivated by DUPS1, DUSP10 and DUSP16. Acetylated at Lys-53 and Lys-152 by KAT2B and EP300. Acetylation at Lys-53 increases the affinity for ATP and enhances kinase activity. Lys-53 and Lys-152 are deacetylated by HDAC3. Ubiquitinated. Ubiquitination leads to degradation by the proteasome pathway. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. Contains 1 protein kinase domain. Name=Wikipedia; Note=P38 mitogen-activated protein kinases entry; URL="http://en.wikipedia.org/wiki/P38_mitogen-activated_protein_kinases"; DNA damage checkpoint nucleotide binding activation of MAPK activity cell morphogenesis spindle pole cartilage condensation angiogenesis placenta development chondrocyte differentiation positive regulation of cytokine secretion involved in immune response protein kinase activity protein serine/threonine kinase activity MAP kinase activity MAP kinase kinase activity protein binding ATP binding extracellular region cell nucleus nucleoplasm cytoplasm mitochondrion cytosol glucose metabolic process regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein phosphorylation apoptotic process chemotaxis cellular response to DNA damage stimulus signal transduction cell surface receptor signaling pathway transmembrane receptor protein serine/threonine kinase signaling pathway Ras protein signal transduction skeletal muscle tissue development regulation of gene expression positive regulation of gene expression positive regulation of macrophage chemotaxis positive regulation of myotube differentiation kinase activity phosphorylation nuclear speck transferase activity peptidyl-serine phosphorylation fatty acid oxidation enzyme binding protein phosphatase binding regulation of ossification osteoclast differentiation positive regulation of cyclase activity lipopolysaccharide-mediated signaling pathway response to muramyl dipeptide response to lipopolysaccharide secretory granule lumen intracellular signal transduction cellular response to vascular endothelial growth factor stimulus response to muscle stretch p38MAPK cascade positive regulation of protein import into nucleus signal transduction in response to DNA damage neutrophil degranulation positive regulation of erythrocyte differentiation positive regulation of myoblast differentiation positive regulation of transcription from RNA polymerase II promoter positive regulation of glucose import vascular endothelial growth factor receptor signaling pathway mitogen-activated protein kinase p38 binding regulation of sequence-specific DNA binding transcription factor activity striated muscle cell differentiation positive regulation of muscle cell differentiation NFAT protein binding positive regulation of cardiac muscle cell proliferation 3'-UTR-mediated mRNA stabilization cellular response to lipopolysaccharide cellular response to lipoteichoic acid cellular response to tumor necrosis factor cellular response to ionizing radiation negative regulation of canonical Wnt signaling pathway positive regulation of brown fat cell differentiation stress-induced premature senescence cellular response to virus glutamatergic synapse regulation of cytokine production involved in inflammatory response positive regulation of myoblast fusion regulation of signal transduction by p53 class mediator ficolin-1-rich granule lumen positive regulation of metallopeptidase activity positive regulation of reactive oxygen species metabolic process positive regulation of interleukin-12 secretion positive regulation of blood vessel endothelial cell migration  uc003olp.1 uc003olp.2 uc003olp.3 uc003olp.4 uc003olp.5 
ENST00000229812.8 STK38 ENST00000229812.8 Homo sapiens serine/threonine kinase 38 (STK38), transcript variant 1, mRNA. (from RefSeq NM_007271) ENST00000229812.1 ENST00000229812.2 ENST00000229812.3 ENST00000229812.4 ENST00000229812.5 ENST00000229812.6 ENST00000229812.7 NDR1 NM_007271 Q15208 Q503A1 STK38_HUMAN uc003omh.1 uc003omh.2 uc003omh.3 uc003omh.4 This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Negative regulator of MAP3K1/2 signaling. Converts MAP3K2 from its phosphorylated form to its non-phosphorylated form and inhibits autophosphorylation of MAP3K2. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated by binding of S100B which releases autoinhibitory N-lobe interactions, enabling ATP to bind and the autophosphorylation of Ser-281. Thr-444 then undergoes calcium- dependent phosphorylation by STK24/MST3. Interactions between phosphorylated Thr-444 and the N-lobe promote additional structural changes that complete the activation of the kinase. Autoinhibition is also released by the binding of MOB1/MOBKL1A and MOB2/HCCA2 to the N-terminal of STK38. Interacts with MICAL1; leading to inhibit the protein kinase activity by antagonizing activation by MST1/STK4 (By similarity). Homodimeric S100B binds two molecules of STK38. Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with MOB1 and MOB2. Interacts with MAP3K1 and MAP3K2 (via the kinase catalytic domain). Forms a tripartite complex with MOBKL1B and STK3/MST2. P49407:ARRB1; NbExp=3; IntAct=EBI-458376, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-458376, EBI-714559; Q9H8S9:MOB1A; NbExp=2; IntAct=EBI-458376, EBI-748229; P02638:S100B (xeno); NbExp=3; IntAct=EBI-458376, EBI-458452; Nucleus. Cytoplasm. Ubiquitously expressed with highest levels observed in peripheral blood leukocytes. ISGylated (Probable). Phosphorylated by STK3/MST2 and this is enhanced by MOBKL1B. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. nucleotide binding magnesium ion binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol cellular protein modification process protein phosphorylation kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation mitogen-activated protein kinase kinase kinase binding intracellular signal transduction negative regulation of MAP kinase activity cadherin binding metal ion binding  uc003omh.1 uc003omh.2 uc003omh.3 uc003omh.4 
ENST00000229829.7 HLA-DOA ENST00000229829.7 Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA. (from RefSeq NM_002119) ENST00000229829.1 ENST00000229829.2 ENST00000229829.3 ENST00000229829.4 ENST00000229829.5 ENST00000229829.6 NM_002119 X5CF87 uc003ocr.1 uc003ocr.2 uc003ocr.3 uc003ocr.4 uc003ocr.5 HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.110203.1, BC013183.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000229829.7/ ENSP00000229829.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc003ocr.1 uc003ocr.2 uc003ocr.3 uc003ocr.4 uc003ocr.5 
ENST00000229854.12 MCM3 ENST00000229854.12 Homo sapiens minichromosome maintenance complex component 3 (MCM3), transcript variant 10, non-coding RNA. (from RefSeq NR_158963) A0A499FHX9 ENST00000229854.1 ENST00000229854.10 ENST00000229854.11 ENST00000229854.2 ENST00000229854.3 ENST00000229854.4 ENST00000229854.5 ENST00000229854.6 ENST00000229854.7 ENST00000229854.8 ENST00000229854.9 NR_158963 uc063ozz.1 uc063ozz.2 The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2018]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.59267.1 [ECO:0000332] ##Evidence-Data-END##  uc063ozz.1 uc063ozz.2 
ENST00000229866.10 RNF8 ENST00000229866.10 E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'- linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin- conjugating UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of 'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. In addition to its function in damage signaling, also plays a role in higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac), establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis, where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it may enhance cancer development by aggraving telomere-induced genome instability in case of telomeric crisis. Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2. (from UniProt O76064) A6NN24 A8MYC0 AK298319 B4DPG0 ENST00000229866.1 ENST00000229866.2 ENST00000229866.3 ENST00000229866.4 ENST00000229866.5 ENST00000229866.6 ENST00000229866.7 ENST00000229866.8 ENST00000229866.9 KIAA0646 O76064 Q53H16 Q5NKW5 RNF8_HUMAN uc063ofw.1 E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'- linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF). Also controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites. Also recruited at DNA interstrand cross-links (ICLs) sites and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin- conjugating UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of 'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. In addition to its function in damage signaling, also plays a role in higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac), establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis, where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it may enhance cancer development by aggraving telomere-induced genome instability in case of telomeric crisis. Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2. Protein modification; protein ubiquitination. Homodimer. Forms a E2-E3 ubiquitin ligase complex composed of the RNF8 homodimer and a E2 heterodimer of UBE2N and UBE2V2. Interacts with class III E2s, including UBE2E1, UBE2E2, and UBE2E3 and with UBE2N. Interacts with RXRA. Interacts (via FHA domain) with ATM-phosphorylated MDC1. Interacts (via FHA domain) with 'Thr-4827' phosphorylated HERC2 (via C-terminus). Interacts (via FHA domain) with phosphorylated human herpesvirus 1 ICP0 protein; leading to RNF8 degradation by the proteasome. Q14676:MDC1; NbExp=11; IntAct=EBI-373337, EBI-495644; Nucleus. Midbody. Chromosome, telomere (By similarity). Note=Recruited at uncapped telomeres (By similarity). Following DNA double-strand breaks, recruited to the sites of damage. During prophase, concomitant with nuclear envelope breakdown, localizes throughout the cell, with a dotted pattern. In telophase, again in the nucleus and also with a discrete dotted pattern in the cytoplasm. In late telophase and during cytokinesis, localizes in the midbody of the tubulin bridge joining the daughter cells. Does not seem to be associated with condensed chromosomes at any time during the cell cycle. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O76064-1; Sequence=Displayed; Name=2; IsoId=O76064-2; Sequence=VSP_036671, VSP_037831; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; Ubiquitous. In fetal tissues, highest expression in brain, thymus and liver. In adult tissues, highest levels in brain and testis, lowest levels in peripheral blood cells. Low levels at the G1-S boundary increase in intensity during S phase and until the end of the G2 phase. Abruptly decreases in late mitosis (at protein level). Barely detectable in anaphase. The FHA domain specifically recognizes and binds ATM- phosphorylated MDC1 and 'Thr-4827' phosphorylated HERC2. Autoubiquitinated through 'Lys-48' and 'Lys-63' of ubiquitin. 'Lys-63' polyubiquitination is mediated by UBE2N. 'Lys-29'-type polyubiquitination is also observed, but it doesn't require its own functional RING-type zinc finger. Belongs to the RNF8 family. Contains 1 FHA domain. Contains 1 RING-type zinc finger. According to a well-established model, RNF8 initiate H2A 'Lys-63'-linked ubiquitination leading to recruitment of RNF168 to amplify H2A 'Lys-63'-linked ubiquitination (PubMed:19203578 and PubMed:19203579). However, other data suggest that RNF168 is the priming ubiquitin ligase by mediating monoubiquitination of 'Lys- 13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub respectively) (PubMed:22980979). These data suggest that RNF168 might be recruited to DSBs sites in a RNF8-dependent manner by binding to non-histone proteins ubiquitinated via 'Lys-63'-linked and initiates monoubiquitination of H2A, which is then amplified by RNF8 (PubMed:22980979). Additional evidences are however required to confirm these data. Sequence=BAA31621.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG60572.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=EAX03945.1; Type=Erroneous gene model prediction; ubiquitin ligase complex chromosome, telomeric region chromatin binding ubiquitin-protein transferase activity protein binding nucleus nucleoplasm chromosome cytoplasm cytosol DNA repair double-strand break repair double-strand break repair via nonhomologous end joining chromatin organization ubiquitin-dependent protein catabolic process cellular response to DNA damage stimulus cell cycle spermatid development zinc ion binding response to ionizing radiation protein ubiquitination transferase activity midbody ubiquitin protein ligase binding histone H2A ubiquitination histone H2B ubiquitination negative regulation of transcription elongation from RNA polymerase II promoter spermatogenesis, exchange of chromosomal proteins site of double-strand break interstrand cross-link repair histone binding identical protein binding protein homodimerization activity ubiquitin binding histone exchange isotype switching positive regulation of DNA repair metal ion binding cell division protein autoubiquitination ubiquitin protein ligase activity protein K63-linked ubiquitination histone H2A K63-linked ubiquitination protein K48-linked ubiquitination  uc063ofw.1 
ENST00000229903.5 SAYSD1 ENST00000229903.5 Homo sapiens SAYSVFN motif domain containing 1 (SAYSD1), transcript variant 1, mRNA. (from RefSeq NM_018322) C6orf64 ENST00000229903.1 ENST00000229903.2 ENST00000229903.3 ENST00000229903.4 NM_018322 Q9H0D8 Q9NPB0 SMDC1_HUMAN uc003ook.1 uc003ook.2 uc003ook.3 Cytoplasmic vesicle membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPB0-1; Sequence=Displayed; Name=2; IsoId=Q9NPB0-2; Sequence=VSP_014597, VSP_014598; Note=No experimental confirmation available; membrane integral component of membrane cytoplasmic vesicle membrane cytoplasmic vesicle intracellular membrane-bounded organelle  uc003ook.1 uc003ook.2 uc003ook.3 
ENST00000229913.9 KIF6 ENST00000229913.9 Homo sapiens kinesin family member 6 (KIF6), transcript variant 4, mRNA. (from RefSeq NM_001289024) C6orf102 ENST00000229913.1 ENST00000229913.2 ENST00000229913.3 ENST00000229913.4 ENST00000229913.5 ENST00000229913.6 ENST00000229913.7 ENST00000229913.8 KIF6_HUMAN NM_001289024 Q2MDE3 Q2MDE4 Q5T8J6 Q6ZMV9 Q6ZWE3 Q86T87 Q8WTV4 uc003oos.1 uc003oos.2 uc003oos.3 This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]. Q92624:APPBP2; NbExp=3; IntAct=EBI-751100, EBI-743771; Cytoplasm, cytoskeleton (Probable). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6ZMV9-1; Sequence=Displayed; Name=2; IsoId=Q6ZMV9-2; Sequence=VSP_014468; Name=3; IsoId=Q6ZMV9-3; Sequence=VSP_014471; Note=No experimental confirmation available; Name=4; IsoId=Q6ZMV9-4; Sequence=VSP_014468, VSP_014469, VSP_014470; Note=No experimental confirmation available; Belongs to the kinesin-like protein family. Contains 1 kinesin-motor domain. nucleotide binding male germ cell nucleus microtubule motor activity protein binding ATP binding cytoplasm cytoskeleton kinesin complex microtubule microtubule-based movement microtubule binding ATPase activity  uc003oos.1 uc003oos.2 uc003oos.3 
ENST00000229922.7 CAP2 ENST00000229922.7 Homo sapiens cyclase associated actin cytoskeleton regulatory protein 2 (CAP2), transcript variant 1, mRNA. (from RefSeq NM_006366) B2R5Y3 CAP2_HUMAN ENST00000229922.1 ENST00000229922.2 ENST00000229922.3 ENST00000229922.4 ENST00000229922.5 ENST00000229922.6 NM_006366 P40123 Q6IAY2 uc003ncb.1 uc003ncb.2 uc003ncb.3 uc003ncb.4 uc003ncb.5 This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]. May have a regulatory bifunctional role. Cell membrane; Peripheral membrane protein (By similarity). Belongs to the CAP family. Contains 1 C-CAP/cofactor C-like domain. cell morphogenesis actin binding protein binding plasma membrane cytoskeleton organization establishment or maintenance of cell polarity signal transduction activation of adenylate cyclase activity actin polymerization or depolymerization adenylate cyclase binding postsynaptic density membrane cortical actin cytoskeleton identical protein binding  uc003ncb.1 uc003ncb.2 uc003ncb.3 uc003ncb.4 uc003ncb.5 
ENST00000229955.4 GPR63 ENST00000229955.4 Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 2, mRNA. (from RefSeq NM_030784) ENST00000229955.1 ENST00000229955.2 ENST00000229955.3 GPR63_HUMAN NM_030784 PSP24B Q9BZJ6 Q9UJH3 uc003pou.1 uc003pou.2 uc003pou.3 uc003pou.4 uc003pou.5 This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]. Orphan receptor. May play a role in brain function. Cell membrane; Multi-pass membrane protein. Expressed in brain; detected in the frontal cortex, with lower levels in the thalamus, caudate, hypothalamus and midbrain. Belongs to the G-protein coupled receptor 1 family. molecular_function G-protein coupled receptor activity nucleus cytosol plasma membrane signal transduction G-protein coupled receptor signaling pathway biological_process membrane integral component of membrane receptor complex  uc003pou.1 uc003pou.2 uc003pou.3 uc003pou.4 uc003pou.5 
ENST00000229971.2 FBXL4 ENST00000229971.2 Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity). (from UniProt Q9UKA2) BC055010 E1P530 ENST00000229971.1 FBL4 FBL5 FBXL4_HUMAN O95919 Q5BJH0 Q9UJU0 Q9UKA2 uc003ppf.1 uc003ppf.2 Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity). Cytoplasm. Nucleus. Expressed in heart, kidney, liver, lung, pancreas, and placenta, but not in skeletal muscle. Contains 1 F-box domain. Contains 9 LRR (leucine-rich) repeats. ubiquitin ligase complex protein polyubiquitination nucleus cytoplasm mitochondrion mitochondrial intermembrane space cytosol ubiquitin-dependent protein catabolic process nuclear speck SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process post-translational protein modification ubiquitin-protein transferase activity  uc003ppf.1 uc003ppf.2 
ENST00000230036.2 GPLD1 ENST00000230036.2 Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), mRNA. (from RefSeq NM_001503) ENST00000230036.1 NM_001503 P80108 PHLD_HUMAN PIGPLD1 Q15127 Q15128 Q2M2F2 Q5T3Y0 Q7Z6T8 Q8TCV0 Q8WW82 Q96ID6 Q9H167 Q9H4M1 Q9UJC9 uc003ned.1 uc003ned.2 uc003ned.3 uc003ned.4 Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L11702.1, AJ308108.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230036.2/ ENSP00000230036.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## This protein hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans (GPI-anchor) thus releasing these proteins from the membrane. 6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D- myo-inositol + H(2)O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + phosphatidate. Monomer (Potential). Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P80108-1; Sequence=Displayed; Name=2; IsoId=P80108-2; Sequence=VSP_023261, VSP_023262; Belongs to the GPLD1 family. Contains 7 FG-GAP repeats. Sequence=AAA36444.1; Type=Miscellaneous discrepancy; Note=This sequence has numerous of conflicts with the human genome; ossification cell migration involved in sprouting angiogenesis chondrocyte differentiation complement receptor mediated signaling pathway glycosylphosphatidylinositol phospholipase D activity phospholipase D activity extracellular region extracellular space cytoplasm lysosomal membrane C-terminal protein lipidation GPI anchor release negative regulation of cell proliferation insulin receptor signaling pathway response to glucose positive regulation of endothelial cell migration positive regulation of alkaline phosphatase activity positive regulation of triglyceride biosynthetic process negative regulation of triglyceride catabolic process positive regulation of glucose metabolic process positive regulation of high-density lipoprotein particle clearance hydrolase activity sodium channel regulator activity extracellular matrix cellular response to insulin stimulus cellular response to drug hematopoietic stem cell migration positive regulation of insulin secretion involved in cellular response to glucose stimulus positive regulation of apoptotic process intracellular membrane-bounded organelle positive regulation of cytolysis phosphatidylcholine metabolic process positive regulation of membrane protein ectodomain proteolysis positive regulation of secretion extracellular exosome transepithelial transport cellular response to calcium ion cellular response to cholesterol cellular response to triglyceride cellular response to pH hematopoietic stem cell migration to bone marrow regulation of cellular response to insulin stimulus  uc003ned.1 uc003ned.2 uc003ned.3 uc003ned.4 
ENST00000230048.5 ACOT13 ENST00000230048.5 Homo sapiens acyl-CoA thioesterase 13 (ACOT13), transcript variant 1, mRNA. (from RefSeq NM_018473) ACO13_HUMAN ENST00000230048.1 ENST00000230048.2 ENST00000230048.3 ENST00000230048.4 HT012 NM_018473 O95549 PNAS-27 Q9NPJ3 THEM2 uc003nek.1 uc003nek.2 uc003nek.3 uc003nek.4 uc003nek.5 This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]. Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3- hydroxyphenylacetyl-CoA and 3,4-dihydrohyphenylacetyl-CoA (in vitro). Kinetic parameters: KM=4.9 uM for n-decanoyl-CoA; KM=26 uM for n-octanoyl-CoA; KM=5 uM for myristoyl-CoA; KM=9 uM for palmitoyl-CoA; KM=9 uM for oleoyl-CoA; KM=10 uM for 3,4-dihydrohyphenylacetyl-CoA; KM=40 uM for 3-hydrohyphenylacetyl-CoA; Homotetramer. Cytoplasm (By similarity). Mitochondrion (By similarity). Belongs to the thioesterase PaaI family. nucleus cytoplasm mitochondrion spindle cytosol cytoskeleton acyl-CoA metabolic process hydrolase activity acyl-CoA hydrolase activity protein homotetramerization  uc003nek.1 uc003nek.2 uc003nek.3 uc003nek.4 uc003nek.5 
ENST00000230050.4 RPS12 ENST00000230050.4 Homo sapiens ribosomal protein S12 (RPS12), mRNA. (from RefSeq NM_001016) ENST00000230050.1 ENST00000230050.2 ENST00000230050.3 NM_001016 P25398 Q76M58 RS12_HUMAN uc003qdx.1 uc003qdx.2 uc003qdx.3 uc003qdx.4 uc003qdx.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BJ990964.1, BM742041.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230050.4/ ENSP00000230050.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytoplasm. Belongs to the ribosomal protein S12e family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding structural constituent of ribosome nucleoplasm cytoplasm Golgi apparatus cytosol ribosome translation translational initiation SRP-dependent cotranslational protein targeting to membrane membrane viral transcription cytosolic small ribosomal subunit intracellular membrane-bounded organelle  uc003qdx.1 uc003qdx.2 uc003qdx.3 uc003qdx.4 uc003qdx.5 
ENST00000230053.11 B3GAT2 ENST00000230053.11 Homo sapiens beta-1,3-glucuronyltransferase 2 (B3GAT2), mRNA. (from RefSeq NM_080742) B3GA2_HUMAN ENST00000230053.1 ENST00000230053.10 ENST00000230053.2 ENST00000230053.3 ENST00000230053.4 ENST00000230053.5 ENST00000230053.6 ENST00000230053.7 ENST00000230053.8 ENST00000230053.9 GLCATS KIAA1963 NM_080742 Q5JS09 Q8TF38 Q96NK4 Q9NPZ5 uc003pfv.1 uc003pfv.2 uc003pfv.3 uc003pfv.4 uc003pfv.5 The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB075843.1, SRR1803615.173590.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230053.11/ ENSP00000230053.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins (By similarity). UDP-glucuronate + 3-beta-D-galactosyl-4-beta- D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D- glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D- xylosylprotein. Manganese. Protein modification; protein glycosylation. Homodimer (Potential). Golgi apparatus membrane; Single-pass type II membrane protein. Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary. Belongs to the glycosyltransferase 43 family. Sequence=BAB70889.1; Type=Erroneous initiation; Sequence=BAB85549.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane Golgi apparatus protein glycosylation galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity membrane integral component of membrane transferase activity glycosaminoglycan metabolic process metal ion binding chondroitin sulfate proteoglycan biosynthetic process  uc003pfv.1 uc003pfv.2 uc003pfv.3 uc003pfv.4 uc003pfv.5 
ENST00000230056.8 GMNN ENST00000230056.8 Homo sapiens geminin DNA replication inhibitor (GMNN), transcript variant 1, mRNA. (from RefSeq NM_015895) B3KMM8 ENST00000230056.1 ENST00000230056.2 ENST00000230056.3 ENST00000230056.4 ENST00000230056.5 ENST00000230056.6 ENST00000230056.7 GEMI_HUMAN NM_015895 O75496 Q9H1Z1 uc003nen.1 uc003nen.2 uc003nen.3 uc003nen.4 uc003nen.5 This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]. Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC). It is degraded during the mitotic phase of the cell cycle. Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle. Homotetramer. Interacts with CDT1; inhibits binding of the MCM complex to origins of replication. Interacts with IDAS; targets GMNN to the nucleus, prevents GMNN interaction with CDT1 and competes with IDAS homodimerization. Q9H211:CDT1; NbExp=8; IntAct=EBI-371669, EBI-456953; D6RGH6:MCI; NbExp=7; IntAct=EBI-371669, EBI-3954372; Cytoplasm. Nucleus. Note=Mainly cytoplasmic but can be relocalized to the nucleus. Absent during G1 phase, accumulates during S, G2, and M phases, and disappears at the time of the metaphase- anaphase transition. Belongs to the geminin family. Sequence=CAC21511.1; Type=Erroneous initiation; Note=Translation N-terminally extended; G1/S transition of mitotic cell cycle chromatin binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm cytosol regulation of DNA replication cell cycle negative regulation of DNA replication animal organ morphogenesis positive regulation of chromatin binding histone deacetylase binding negative regulation of cell cycle negative regulation of transcription, DNA-templated macromolecular complex assembly repressing transcription factor binding DNA replication preinitiation complex assembly negative regulation of DNA-dependent DNA replication  uc003nen.1 uc003nen.2 uc003nen.3 uc003nen.4 uc003nen.5 
ENST00000230085.13 SNX3 ENST00000230085.13 Homo sapiens sorting nexin 3 (SNX3), transcript variant 1, mRNA. (from RefSeq NM_003795) A8K0B1 E1P5E4 E1P5E5 ENST00000230085.1 ENST00000230085.10 ENST00000230085.11 ENST00000230085.12 ENST00000230085.2 ENST00000230085.3 ENST00000230085.4 ENST00000230085.5 ENST00000230085.6 ENST00000230085.7 ENST00000230085.8 ENST00000230085.9 NM_003795 O60493 O60718 Q4TT29 Q4TT31 Q5JXJ7 Q5JXJ8 Q96AP9 Q9C0J5 Q9NU45 SNX3_HUMAN uc003psh.1 uc003psh.2 uc003psh.3 uc003psh.4 uc003psh.5 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. Phosphoinositide-binding protein required for multivesicular body formation. Specifically binds phosphatidylinositol 3-phosphate (PtdIns(P3)). Plays a role in protein transport between cellular compartments. Promotes stability and cell surface expression of epithelial sodium channel (ENAC) subunits SCNN1A and SCNN1G (By similarity). Not involved in EGFR degradation. Interacts with USP10 and SCNN1A (By similarity). P46108:CRK; NbExp=2; IntAct=EBI-727209, EBI-886; Early endosome. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O60493-1; Sequence=Displayed; Name=2; Synonyms=SNX 3A; IsoId=O60493-2; Sequence=VSP_006190; Name=3; IsoId=O60493-3; Sequence=VSP_012928; Note=No experimental confirmation available; Name=4; IsoId=O60493-4; Sequence=VSP_014694; Note=No experimental confirmation available; The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Ubiquitinated, leading to its proteasomal degradation. Deubiquitinated by USP10 (By similarity). A chromosomal aberration involving SNX3 may be a cause of microphthalmia syndromic type 8 (MCOPS8) [MIM:601349]. Translocation t(6;13)(q21;q12). Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS8 is a very rare congenital syndrome characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. protein binding cytoplasm endosome early endosome cytosol lipid binding response to bacterium endosome membrane phosphatidylinositol-5-phosphate binding membrane invagination positive regulation of neuron projection development protein transport Wnt signaling pathway protein deubiquitination protein phosphatase binding protein to membrane docking regulation of Wnt signaling pathway clathrin-coated vesicle cytoplasmic vesicle early endosome membrane early phagosome phosphatidylinositol-3-phosphate binding phosphatidylinositol binding negative regulation of protein catabolic process phagocytic vesicle negative regulation of viral entry into host cell negative regulation of phagocytosis negative regulation of protein transport extracellular exosome phosphatidylinositol-4-phosphate binding intralumenal vesicle formation phosphatidylinositol-3,5-bisphosphate binding phosphatidylinositol phosphate binding negative regulation of early endosome to late endosome transport retromer complex  uc003psh.1 uc003psh.2 uc003psh.3 uc003psh.4 uc003psh.5 
ENST00000230113.5 LINC01702 ENST00000230113.5 long intergenic non-protein coding RNA 1702 (from HGNC LINC01702) ENST00000230113.1 ENST00000230113.2 ENST00000230113.3 ENST00000230113.4 uc284mqt.1 uc284mqt.2  uc284mqt.1 uc284mqt.2 
ENST00000230122.4 ZBTB24 ENST00000230122.4 Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. (from RefSeq NM_014797) ENST00000230122.1 ENST00000230122.2 ENST00000230122.3 KIAA0441 NM_014797 O43167 Q17RC6 Q5TED5 Q8N455 ZBT24_HUMAN ZNF450 uc003ptl.1 uc003ptl.2 uc003ptl.3 This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]. May be involved in BMP2-induced transcription (By similarity). Q99750:MDFI; NbExp=3; IntAct=EBI-744471, EBI-724076; Nucleus (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43167-1; Sequence=Displayed; Name=2; IsoId=O43167-2; Sequence=VSP_016221, VSP_016222; Note=No experimental confirmation available; Widely expressed, with highest levels in naive B-cells. Regulated expression during B-cell differentiation. Low expression in pro-B cells, pre-B I cells and large pre-B II cells. Levels peak in small pre-B II and then slightly decrease in immature B-cells. Low levels in CD34+ umbilical cord blood cells. Defects in ZBTB24 are the cause of immunodeficiency- centromeric instability-facial anomalies syndrome type 2 (ICF2) [MIM:614069]. A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 A.T hook DNA-binding domain. Contains 1 BTB (POZ) domain. Contains 8 C2H2-type zinc fingers. Sequence=BAA23713.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor activity, sequence-specific DNA binding hematopoietic progenitor cell differentiation nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter metal ion binding  uc003ptl.1 uc003ptl.2 uc003ptl.3 
ENST00000230124.8 FIG4 ENST00000230124.8 Homo sapiens FIG4 phosphoinositide 5-phosphatase (FIG4), mRNA. (from RefSeq NM_014845) ENST00000230124.1 ENST00000230124.2 ENST00000230124.3 ENST00000230124.4 ENST00000230124.5 ENST00000230124.6 ENST00000230124.7 FIG4_HUMAN KIAA0274 NM_014845 Q53H49 Q5TCS6 Q92562 SAC3 uc003ptt.1 uc003ptt.2 uc003ptt.3 uc003ptt.4 The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291671.1, D87464.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230124.8/ ENSP00000230124.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold. Endosome membrane. Note=Localization requires VAC14 and PIKFYVE. Defects in FIG4 are the cause of Charcot-Marie-Tooth disease type 4J (CMT4J) [MIM:611228]. CMT4J is a recessive demyelinating, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in FIG4 are the cause of amyotrophic lateral sclerosis type 11 (ALS11) [MIM:612577]. ALS is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10%. Contains 1 SAC domain. Sequence=BAA13403.2; Type=Erroneous initiation; Golgi membrane phosphatidylinositol-3-phosphatase activity protein binding endosome endoplasmic reticulum Golgi apparatus lipid particle phosphatidylinositol biosynthetic process vacuole organization locomotory behavior endosome membrane positive regulation of neuron projection development membrane dephosphorylation hydrolase activity negative regulation of myelination early endosome membrane late endosome membrane myelin assembly phosphatidylinositol bisphosphate phosphatase activity phosphatidylinositol-3-phosphate biosynthetic process phosphoric ester hydrolase activity intracellular membrane-bounded organelle pigmentation phosphatidylinositol-4-phosphate phosphatase activity phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity phosphatidylinositol metabolic process neuron development recycling endosome  uc003ptt.1 uc003ptt.2 uc003ptt.3 uc003ptt.4 
ENST00000230173.10 ADGRG6 ENST00000230173.10 Homo sapiens adhesion G protein-coupled receptor G6 (ADGRG6), transcript variant a1, mRNA. (from RefSeq NM_020455) DREG ENST00000230173.1 ENST00000230173.2 ENST00000230173.3 ENST00000230173.4 ENST00000230173.5 ENST00000230173.6 ENST00000230173.7 ENST00000230173.8 ENST00000230173.9 GP126_HUMAN GPR126 NM_020455 Q5TGN7 Q6DHZ4 Q6F3F5 Q6F3F6 Q6F3F7 Q6F3F8 Q6MZU7 Q86SQ4 Q8IXA4 Q8NC14 Q96JW0 VIGR uc010khc.1 uc010khc.2 uc010khc.3 uc010khc.4 This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]. Orphan receptor. May be required for normal differentiation of promyelinating Schwann cells and for normal myelination of axons. Signals probably through G-proteins to transiently elevate cAMP levels (By similarity). Cell membrane; Multi-pass membrane protein. Note=Detected on the cell surface of activated but not resting umbilical vein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q86SQ4-1; Sequence=Displayed; Name=2; IsoId=Q86SQ4-2; Sequence=VSP_010747; Name=3; IsoId=Q86SQ4-3; Sequence=VSP_010748; Name=4; IsoId=Q86SQ4-4; Sequence=VSP_010747, VSP_010748; Expressed in placenta and to a lower extent in pancreas and liver. Detected in aortic endothelial cells but not in skin microvascular endothelial cells. Up-regulated by bacterial lipopolysaccharides (LPS) and thrombin, but not by other inflammatory stimuli in primary umbilical veins. Proteolytically cleaved into 2 conserved sites: one in the GPS domain (S1 site) and the other in the middle of the extracellular domain (S2 site). The proteolytic cleavage at S1 site generates an extracellular subunit and a seven-transmembrane subunit. Furin is involved in the cleavage of the S2 site generating a soluble fragment. Processing at the GPS domain occurred independent of and probably prior to the cleavage at the S2 site. Genetic variations in GPR126 influences stature as a quantitative trait (STQTL) [MIM:606255]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 1 CUB domain. Contains 1 GPS domain. Contains 1 pentaxin domain. Sequence=AAO13250.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Sequence=BAB55406.1; Type=Erroneous initiation; Sequence=BAC11393.1; Type=Erroneous initiation; Sequence=CAE45930.1; Type=Erroneous initiation; Sequence=CAI20053.1; Type=Erroneous gene model prediction; transmembrane signaling receptor activity G-protein coupled receptor activity collagen binding plasma membrane integral component of plasma membrane mitochondrion organization signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway Schwann cell differentiation membrane integral component of membrane cAMP-mediated signaling myelination in peripheral nervous system myelination laminin binding extracellular matrix binding heart trabecula formation  uc010khc.1 uc010khc.2 uc010khc.3 uc010khc.4 
ENST00000230221.5 OR14J1 ENST00000230221.5 Homo sapiens olfactory receptor family 14 subfamily J member 1 (OR14J1), mRNA. (from RefSeq NM_030946) A2BEC2 B0V078 ENST00000230221.1 ENST00000230221.2 ENST00000230221.3 ENST00000230221.4 NM_030946 O14J1_HUMAN OR5U1 Q5ST27 Q9UGF5 uc302whl.1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR14J1"; G-protein coupled receptor activity olfactory receptor activity odorant binding plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc302whl.1 
ENST00000230223.5 OR5V1 ENST00000230223.5 Homo sapiens olfactory receptor family 5 subfamily V member 1 (OR5V1), mRNA. (from RefSeq NM_030876) A2BDZ0 B0S860 ENST00000230223.1 ENST00000230223.2 ENST00000230223.3 ENST00000230223.4 NM_030876 OR5V1_HUMAN Q5SQI9 Q6NTB5 Q8IVL3 Q9UGF6 uc302whm.1 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR5V1"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc302whm.1 
ENST00000230236.4 HSD17B8 ENST00000230236.4 Homo sapiens hydroxysteroid 17-beta dehydrogenase 8 (HSD17B8), mRNA. (from RefSeq NM_014234) A6NLX7 DHB8_HUMAN ENST00000230236.1 ENST00000230236.2 ENST00000230236.3 FABGL HKE6 NM_014234 Q5STP7 Q92506 Q9UIQ1 RING2 uc302whn.1 In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.81525.1, BC008185.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374662.4/ ENSP00000363794.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol. Has very low activity towards testosterone. The heteroteramer with CBR4 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity. May play a role in biosynthesis of fatty acids in mitochondria. Estradiol-17-beta + NAD(P)(+) = estrone + NAD(P)H. Testosterone + NAD(+) = androst-4-ene-3,17- dione + NADH. Steroid biosynthesis; estrogen biosynthesis. Lipid metabolism; fatty acid biosynthesis. Heterotetramer with CBR4; contains two molecules of HSD17B8 and CBR4. Mitochondrion matrix. Highly expressed in placenta, liver and pancreas, lower in the skeletal muscle and kidney. Widely expressed. Up-regulated by estradiol. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 3-hydroxyacyl-CoA dehydrogenase activity estradiol 17-beta-dehydrogenase activity protein binding mitochondrion mitochondrial envelope mitochondrial matrix plasma membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process steroid biosynthetic process estrogen biosynthetic process androgen metabolic process estrogen metabolic process membrane oxidoreductase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor fatty-acyl-CoA biosynthetic process 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity testosterone dehydrogenase (NAD+) activity quinone binding protein heterotetramerization oxidation-reduction process NADH binding  uc302whn.1 
ENST00000230256.8 UNC93A ENST00000230256.8 Homo sapiens unc-93 homolog A (UNC93A), transcript variant 1, mRNA. (from RefSeq NM_018974) B3KRP5 ENST00000230256.1 ENST00000230256.2 ENST00000230256.3 ENST00000230256.4 ENST00000230256.5 ENST00000230256.6 ENST00000230256.7 NM_018974 Q4QQJ4 Q5JZD6 Q86WB7 UN93A_HUMAN uc003qvq.1 uc003qvq.2 uc003qvq.3 uc003qvq.4 uc003qvq.5 Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86WB7-1; Sequence=Displayed; Name=2; IsoId=Q86WB7-2; Sequence=VSP_042772; Note=No experimental confirmation available; Expressed in testis, small intestine, spleen, prostate and ovary. Although UNC93A gene is located in a region of the genome frequently associated with ovarian cancer, no evidence have been found for a tumor suppressor function. Belongs to the unc-93 family. Sequence=CAI42706.1; Type=Erroneous gene model prediction; molecular_function plasma membrane biological_process membrane integral component of membrane  uc003qvq.1 uc003qvq.2 uc003qvq.3 uc003qvq.4 uc003qvq.5 
ENST00000230301.9 C6orf118 ENST00000230301.9 Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA. (from RefSeq NM_144980) CF118_HUMAN ENST00000230301.1 ENST00000230301.2 ENST00000230301.3 ENST00000230301.4 ENST00000230301.5 ENST00000230301.6 ENST00000230301.7 ENST00000230301.8 NM_144980 Q5T5N4 Q8TC11 uc003qum.1 uc003qum.2 uc003qum.3 uc003qum.4 uc003qum.5 uc003qum.6  uc003qum.1 uc003qum.2 uc003qum.3 uc003qum.4 uc003qum.5 uc003qum.6 
ENST00000230321.11 MDFI ENST00000230321.11 Homo sapiens MyoD family inhibitor (MDFI), transcript variant 3, mRNA. (from RefSeq NM_005586) ENST00000230321.1 ENST00000230321.10 ENST00000230321.2 ENST00000230321.3 ENST00000230321.4 ENST00000230321.5 ENST00000230321.6 ENST00000230321.7 ENST00000230321.8 ENST00000230321.9 MDFI_HUMAN NM_005586 Q99750 uc003oqq.1 uc003oqq.2 uc003oqq.3 uc003oqq.4 uc003oqq.5 uc003oqq.6 This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]. Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (By similarity). The C-terminus interacts with AXIN1 and LEF1 (By similarity). P29972:AQP1; NbExp=4; IntAct=EBI-724076, EBI-745213; P55064:AQP5; NbExp=3; IntAct=EBI-724076, EBI-746103; Q5T681:C10orf62; NbExp=4; IntAct=EBI-724076, EBI-744052; Q96EN9:C19orf60; NbExp=3; IntAct=EBI-724076, EBI-745810; Q96LL4:C8orf48; NbExp=3; IntAct=EBI-724076, EBI-751596; O43439:CBFA2T2; NbExp=3; IntAct=EBI-724076, EBI-748628; Q14781:CBX2; NbExp=3; IntAct=EBI-724076, EBI-745934; Q8NE01:CNNM3; NbExp=3; IntAct=EBI-724076, EBI-741032; Q5TAQ9:DCAF8; NbExp=3; IntAct=EBI-724076, EBI-740686; O94907:DKK1; NbExp=3; IntAct=EBI-724076, EBI-742864; Q9H5Z6:FAM124B; NbExp=4; IntAct=EBI-724076, EBI-741626; P04899:GNAI2; NbExp=2; IntAct=EBI-724076, EBI-353997; P17482:HOXB9; NbExp=3; IntAct=EBI-724076, EBI-745290; Q14847:LASP1; NbExp=3; IntAct=EBI-724076, EBI-742828; O75427:LRCH4; NbExp=3; IntAct=EBI-724076, EBI-718707; Q8WWR8:NEU4; NbExp=3; IntAct=EBI-724076, EBI-746964; P55055:NR1H2; NbExp=3; IntAct=EBI-724076, EBI-745354; Q3YEC7:PARF; NbExp=2; IntAct=EBI-724076, EBI-742029; Q8WV24:PHLDA1; NbExp=3; IntAct=EBI-724076, EBI-738731; Q9HB75:PIDD; NbExp=3; IntAct=EBI-724076, EBI-520427; Q15475:SIX1; NbExp=2; IntAct=EBI-724076, EBI-743675; Q9UBX3:SLC25A10; NbExp=3; IntAct=EBI-724076, EBI-750394; Q9P2T0:THEG; NbExp=3; IntAct=EBI-724076, EBI-751020; O43167:ZBTB24; NbExp=3; IntAct=EBI-724076, EBI-744471; P24278:ZBTB25; NbExp=2; IntAct=EBI-724076, EBI-739899; P52737:ZNF136; NbExp=3; IntAct=EBI-724076, EBI-749129; Q9H9D4:ZNF408; NbExp=3; IntAct=EBI-724076, EBI-347633; O15015:ZNF646; NbExp=3; IntAct=EBI-724076, EBI-745608; Nucleus (By similarity). Cytoplasm (By similarity). Belongs to the MDFI family. negative regulation of transcription from RNA polymerase II promoter protein binding nucleus cytoplasm multicellular organism development transcription factor binding dorsal/ventral axis specification cell differentiation negative regulation of Wnt signaling pathway identical protein binding cytoplasmic sequestering of transcription factor negative regulation of DNA binding embryonic skeletal system morphogenesis trophoblast giant cell differentiation  uc003oqq.1 uc003oqq.2 uc003oqq.3 uc003oqq.4 uc003oqq.5 uc003oqq.6 
ENST00000230323.8 TFEB ENST00000230323.8 Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA. (from RefSeq NM_007162) BHLHE35 ENST00000230323.1 ENST00000230323.2 ENST00000230323.3 ENST00000230323.4 ENST00000230323.5 ENST00000230323.6 ENST00000230323.7 NM_007162 P19484 Q709B3 Q7Z6P9 Q9BRJ5 Q9UJD8 TFEB_HUMAN uc003oqs.1 Transcription factor that specifically recognizes and binds E-box sequences (5'-CANNTG-3'). Efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFE3 or MITF. In association with TFE3, activates the expression of CD40L in T-cells, thereby playing a role in T- cell-dependent antibody responses in activated CD4(+) T-cells and thymus-dependent humoral immunity. Specifically recognizes and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression. It thereby plays a central role in expression of lysosomal genes. Specifically recognizes the gamma-E3 box, a subset of E-boxes, present in the heavy-chain immunoglobulin enhancer. Plays a role in the signal transduction processes required for normal vascularization of the placenta. Homodimer and heterodimer; with TFE3 or MITF. Cytoplasm. Nucleus. Note=Mainly present in the cytoplasm. Under aberrant lysosomal storage conditions, it translocates from the cytoplasm to the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P19484-1; Sequence=Displayed; Name=2; IsoId=P19484-2; Sequence=VSP_002159; The leucin zipper region is essential for homo- or heterodimerization and high-affinity DNA binding. DNA binding is mediated by the basic region. Sumoylated; does not affect dimerization with MITF. Belongs to the MiT/TFE family. Contains 1 bHLH (basic helix-loop-helix) domain. Sequence=AAA36730.1; Type=Erroneous initiation; Sequence=CAE77681.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TFEBID531.html"; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding embryonic placenta development adaptive immune response immune system process DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated autophagy humoral immune response lysosome organization positive regulation of autophagy lysosome localization transcription regulatory region DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity  uc003oqs.1 
ENST00000230340.9 BYSL ENST00000230340.9 Homo sapiens bystin like (BYSL), mRNA. (from RefSeq NM_004053) BYST_HUMAN ENST00000230340.1 ENST00000230340.2 ENST00000230340.3 ENST00000230340.4 ENST00000230340.5 ENST00000230340.6 ENST00000230340.7 ENST00000230340.8 NM_004053 Q13895 Q6P5W4 Q86W44 Q96IP8 uc003orl.1 uc003orl.2 uc003orl.3 uc003orl.4 uc003orl.5 Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC007340.2, SRR3476690.380103.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230340.9/ ENSP00000230340.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits. May be required for trophinin-dependent regulation of cell adhesion during implantation of human embryos. Binds trophinin, tastin and cytokeratins. Q12816:TRO; NbExp=4; IntAct=EBI-358049, EBI-950001; Q12815:TROAP; NbExp=9; IntAct=EBI-358049, EBI-2349743; Cytoplasm. Nucleus, nucleolus. Note=Associated with 40S ribosomal subunits. Found in the placenta from the sixth week of pregnancy. Was localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the level decreased and then disappeared from placental villi. HeLa cells lacking BYSL show a delay in the processing of the 18S rRNA component of the 40S ribosomal subunit. HT-H cells lacking BYSL show trophinin-independent signaling through ERBB4. Belongs to the bystin family. Sequence=AAC16603.2; Type=Erroneous initiation; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) in utero embryonic development blastocyst formation trophectodermal cell differentiation RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol rRNA processing cell proliferation membrane snoRNA binding preribosome, small subunit precursor ribosome biogenesis intracellular membrane-bounded organelle apical part of cell regulation of protein localization to nucleolus  uc003orl.1 uc003orl.2 uc003orl.3 uc003orl.4 uc003orl.5 
ENST00000230354.10 TBP ENST00000230354.10 General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre- initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. (from UniProt P20226) ENST00000230354.1 ENST00000230354.2 ENST00000230354.3 ENST00000230354.4 ENST00000230354.5 ENST00000230354.6 ENST00000230354.7 ENST00000230354.8 ENST00000230354.9 GTF2D1 M55654 P20226 Q16845 Q6IBM6 Q9UC02 TBP_HUMAN TF2D TFIID uc003qxt.1 uc003qxt.2 uc003qxt.3 uc003qxt.4 General transcription factor that functions at the core of the DNA-binding multiprotein factor TFIID. Binding of TFIID to the TATA box is the initial transcriptional step of the pre- initiation complex (PIC), playing a role in the activation of eukaryotic genes transcribed by RNA polymerase II. Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (preinitiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1 with the rDNA promoter. SL1 is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Binds DNA as monomer. Belongs to the TFIID complex together with the TBP-associated factors (TAFs). Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B TAF1C and TAF1D. Association of TBP to form either TFIID or SL1/TIF-IB appears to be mutually exclusive. Interacts with TAF1A, TAF1B and TAF1C. Interacts with TFIIB, NCOA6, DRAP1, DR1 and ELF3. Interacts with SPIB, SNAPC1, SNAPC2 and SNAPC4. Interacts with UTF1. Interacts with BRF2. Interacts with UBTF. Interacts with GPBP1. Interacts with CITED2 (By similarity). Interacts with ATF7IP. Interacts with HIV-1 Tat. O60869-1:EDF1; NbExp=2; IntAct=EBI-355371, EBI-781310; P52657:GTF2A2; NbExp=2; IntAct=EBI-355371, EBI-1045262; P20265:POU3F2; NbExp=2; IntAct=EBI-355371, EBI-1167176; P21675:TAF1; NbExp=5; IntAct=EBI-355371, EBI-491289; P04637:TP53; NbExp=2; IntAct=EBI-355371, EBI-366083; Nucleus. Widely expressed, with levels highest in the testis and ovary. The poly-Gln region of TBP is highly polymorphic (25 to 42 repeats) in normal individuals and is expanded to about 47- 63 repeats in spinocerebellar ataxia 17 (SCA17) patients. Defects in TBP are the cause of spinocerebellar ataxia type 17 (SCA17) [MIM:607136]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Belongs to the TBP family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBP"; transcription factor TFIIIB complex nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcription factor activity, core RNA polymerase III binding RNA polymerase III regulatory region DNA binding core promoter binding TFIIB-class transcription factor binding RNA polymerase II repressing transcription factor binding female pronucleus male pronucleus DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex transcription factor TFIID complex transcription factor TFIIA complex nuclear euchromatin cytoplasm DNA-templated transcription, initiation transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription from RNA polymerase III promoter spermatogenesis transcription factor binding viral process obsolete general RNA polymerase II transcription factor activity aryl hydrocarbon receptor binding enzyme binding macromolecular complex snRNA transcription from RNA polymerase II promoter transcription regulatory region DNA binding pronucleus positive regulation of gene expression, epigenetic positive regulation of transcription, DNA-templated RNA polymerase II transcriptional preinitiation complex assembly repressing transcription factor binding RNA polymerase III transcriptional preinitiation complex assembly transcriptional preinitiation complex regulation of signal transduction by p53 class mediator  uc003qxt.1 uc003qxt.2 uc003qxt.3 uc003qxt.4 
ENST00000230361.4 GUCA1B ENST00000230361.4 Homo sapiens guanylate cyclase activator 1B (GUCA1B), mRNA. (from RefSeq NM_002098) ENST00000230361.1 ENST00000230361.2 ENST00000230361.3 GCAP2 GUC1B_HUMAN NM_002098 Q9NU15 Q9UMX6 uc003orz.1 uc003orz.2 uc003orz.3 uc003orz.4 uc003orz.5 The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX537393.1, BQ636025.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000230361.4/ ENSP00000230361.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure. Cell membrane. Note=Membranes of outer segment. Retina. Cones and rod. Defects in GUCA1B are the cause of retinitis pigmentosa type 48 (RP48) [MIM:613827]. RP48 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Binds three calcium ions (By similarity). Contains 4 EF-hand domains. photoreceptor outer segment photoreceptor inner segment calcium ion binding plasma membrane receptor guanylyl cyclase signaling pathway cell-cell signaling body fluid secretion visual perception phototransduction calcium sensitive guanylate cyclase activator activity membrane regulation of rhodopsin mediated signaling pathway guanylate cyclase regulator activity regulation of guanylate cyclase activity positive regulation of guanylate cyclase activity metal ion binding response to stimulus photoreceptor disc membrane  uc003orz.1 uc003orz.2 uc003orz.3 uc003orz.4 uc003orz.5 
ENST00000230381.7 PRPH2 ENST00000230381.7 Homo sapiens peripherin 2 (PRPH2), mRNA. (from RefSeq NM_000322) ENST00000230381.1 ENST00000230381.2 ENST00000230381.3 ENST00000230381.4 ENST00000230381.5 ENST00000230381.6 NM_000322 P23942 PRPH PRPH2_HUMAN Q5TFH5 Q6DK65 RDS TSPAN22 uc003osk.1 uc003osk.2 uc003osk.3 uc003osk.4 uc003osk.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.105378.1, SRR1803614.121211.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230381.7/ ENSP00000230381.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis. Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG. Membrane; Multi-pass membrane protein. Retina (photoreceptor). In rim region of ROS (rod outer segment) disks. Defects in PRPH2 are the cause of retinitis pigmentosa type 7 (RP7) [MIM:608133]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Defects in PRPH2 are a cause of retinitis punctata albescens (RPA) [MIM:136880]. Defects in PRPH2 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. Defects in PRPH2 are a cause of patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]. Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. Defects in PRPH2 are a cause of choroidal dystrophy central areolar type 2 (CACD2) [MIM:613105]. It is a disorder which affects the posterior pole of the eye, and early lesions consist of a non-specific area of granular hyperpigmentation at the fovea. The characteristic sign of the disorder, a zone of atrophy that develops in the macula of the eye and involves the retinal pigment epithelium and the choriocapillaris, occurs several decades after onset. Note=Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk. Belongs to the PRPH2/ROM1 family. Name=Mutations of the RDS gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rdsmut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRPH2"; photoreceptor outer segment integral component of plasma membrane cell adhesion visual perception membrane integral component of membrane retina development in camera-type eye  uc003osk.1 uc003osk.2 uc003osk.3 uc003osk.4 uc003osk.5 
ENST00000230402.10 PPP2R5D ENST00000230402.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H7C5Z1) ENST00000230402.1 ENST00000230402.2 ENST00000230402.3 ENST00000230402.4 ENST00000230402.5 ENST00000230402.6 ENST00000230402.7 ENST00000230402.8 ENST00000230402.9 H7C5Z1 H7C5Z1_HUMAN L76702 uc063ool.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063ool.1 
ENST00000230413.9 MRPL2 ENST00000230413.9 Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), transcript variant 2, mRNA. (from RefSeq NM_001300848) C9IY40 C9IY40_HUMAN ENST00000230413.1 ENST00000230413.2 ENST00000230413.3 ENST00000230413.4 ENST00000230413.5 ENST00000230413.6 ENST00000230413.7 ENST00000230413.8 NM_001300848 uc063ooy.1 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. structural constituent of ribosome ribosome translation  uc063ooy.1 
ENST00000230418.8 PTK7 ENST00000230418.8 Homo sapiens protein tyrosine kinase 7 (inactive) (PTK7), transcript variant PTK7-5, non-coding RNA. (from RefSeq NR_072998) A8K974 CCK4 ENST00000230418.1 ENST00000230418.2 ENST00000230418.3 ENST00000230418.4 ENST00000230418.5 ENST00000230418.6 ENST00000230418.7 NR_072998 PTK7_HUMAN Q13308 Q13417 Q5T650 Q6IQ54 Q8NFA5 Q8NFA6 Q8NFA7 Q8NFA8 uc063ops.1 This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis. Interacts with CTNNB1. Membrane; Single-pass type I membrane protein. Cell junction. Note=Co-localizes with MMP14 at cell junctions. Also localizes at the leading edge of migrating cells. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=PTK7-1; IsoId=Q13308-1; Sequence=Displayed; Name=2; Synonyms=PTK7-2; IsoId=Q13308-2; Sequence=VSP_037182; Name=3; Synonyms=PTK7-3; IsoId=Q13308-3; Sequence=VSP_037181; Name=4; Synonyms=PTK7-4; IsoId=Q13308-4; Sequence=VSP_037183; Name=5; Synonyms=PTK7-5; IsoId=Q13308-5; Sequence=VSP_037184, VSP_037185; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highly expressed in lung, liver, pancreas, kidney, placenta and melanocytes. Weakly expressed in thyroid gland, ovary, brain, heart and skeletal muscle. Also expressed in erythroleukemia cells. But not expressed in colon. Higher expression in cell lines established from normal non-tumorigenic tissues compared to cell lines established from highly metastatic invasive carcinomas (at protein level). MMP14 cleaves PTK7 between Pro-621 and Leu-622 generating an N-terminal soluble (70 kDa) fragment and a membrane C-terminal (50 kDa) fragment. Proteolysis by MMP14 regulates PTK7 function in non-canonical Wnt signaling pathway. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Contains 7 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain. establishment of planar polarity neural tube closure ventricular septum development axis elongation protein kinase activity protein binding ATP binding plasma membrane integral component of plasma membrane cell-cell junction focal adhesion protein phosphorylation cell adhesion signal transduction heart development positive regulation of neuron projection development membrane integral component of membrane Wnt signaling pathway cell migration cell junction actin cytoskeleton reorganization wound healing establishment of epithelial cell apical/basal polarity convergent extension lung-associated mesenchyme development coronary vasculature development cellular response to retinoic acid cochlea morphogenesis planar cell polarity pathway involved in neural tube closure positive regulation of canonical Wnt signaling pathway coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway  uc063ops.1 
ENST00000230419.9 PTK7 ENST00000230419.9 Homo sapiens protein tyrosine kinase 7 (inactive) (PTK7), transcript variant PTK7-1, mRNA. (from RefSeq NM_002821) A8K974 CCK4 ENST00000230419.1 ENST00000230419.2 ENST00000230419.3 ENST00000230419.4 ENST00000230419.5 ENST00000230419.6 ENST00000230419.7 ENST00000230419.8 NM_002821 PTK7_HUMAN Q13308 Q13417 Q5T650 Q6IQ54 Q8NFA5 Q8NFA6 Q8NFA7 Q8NFA8 uc003oub.1 uc003oub.2 uc003oub.3 uc003oub.4 This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. Inactive tyrosine kinase involved in Wnt signaling pathway. Component of both the non-canonical (also known as the Wnt/planar cell polarity signaling) and the canonical Wnt signaling pathway. Functions in cell adhesion, cell migration, cell polarity, proliferation, actin cytoskeleton reorganization and apoptosis. Has a role in embryogenesis, epithelial tissue organization and angiogenesis. Interacts with CTNNB1. Membrane; Single-pass type I membrane protein. Cell junction. Note=Co-localizes with MMP14 at cell junctions. Also localizes at the leading edge of migrating cells. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=PTK7-1; IsoId=Q13308-1; Sequence=Displayed; Name=2; Synonyms=PTK7-2; IsoId=Q13308-2; Sequence=VSP_037182; Name=3; Synonyms=PTK7-3; IsoId=Q13308-3; Sequence=VSP_037181; Name=4; Synonyms=PTK7-4; IsoId=Q13308-4; Sequence=VSP_037183; Name=5; Synonyms=PTK7-5; IsoId=Q13308-5; Sequence=VSP_037184, VSP_037185; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highly expressed in lung, liver, pancreas, kidney, placenta and melanocytes. Weakly expressed in thyroid gland, ovary, brain, heart and skeletal muscle. Also expressed in erythroleukemia cells. But not expressed in colon. Higher expression in cell lines established from normal non-tumorigenic tissues compared to cell lines established from highly metastatic invasive carcinomas (at protein level). MMP14 cleaves PTK7 between Pro-621 and Leu-622 generating an N-terminal soluble (70 kDa) fragment and a membrane C-terminal (50 kDa) fragment. Proteolysis by MMP14 regulates PTK7 function in non-canonical Wnt signaling pathway. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. Contains 7 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 protein kinase domain. establishment of planar polarity neural tube closure ventricular septum development axis elongation protein kinase activity protein binding ATP binding plasma membrane integral component of plasma membrane cell-cell junction focal adhesion protein phosphorylation cell adhesion signal transduction heart development positive regulation of neuron projection development membrane integral component of membrane Wnt signaling pathway cell migration cell junction actin cytoskeleton reorganization wound healing establishment of epithelial cell apical/basal polarity convergent extension lung-associated mesenchyme development coronary vasculature development cellular response to retinoic acid cochlea morphogenesis planar cell polarity pathway involved in neural tube closure positive regulation of canonical Wnt signaling pathway coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway  uc003oub.1 uc003oub.2 uc003oub.3 uc003oub.4 
ENST00000230431.11 DNPH1 ENST00000230431.11 Homo sapiens 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 (DNPH1), transcript variant 1, mRNA. (from RefSeq NM_006443) B2LUJ9 C6orf108 ENST00000230431.1 ENST00000230431.10 ENST00000230431.2 ENST00000230431.3 ENST00000230431.4 ENST00000230431.5 ENST00000230431.6 ENST00000230431.7 ENST00000230431.8 ENST00000230431.9 NM_006443 O43598 RCL RCL_HUMAN uc003ouo.1 uc003ouo.2 uc003ouo.3 uc003ouo.4 uc003ouo.5 This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]. Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5- phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'- monophosphates containing purine bases are preferred to those containing pyrimidine bases (By similarity). A deoxyribonucleoside 5'-monophosphate + H(2)0 = deoxyribose 5-monophosphate + a purine or pyrimidine base. Monomer and homodimer (By similarity). Nucleus (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43598-1; Sequence=Displayed; Name=2; IsoId=O43598-2; Sequence=VSP_040509, VSP_040510; Expressed at low levels in brain, colon, lung, peripheral blood leukocytes, placenta, small intestine, and thymus. Expressed at high levels in heart, kidney, liver, skeletal muscle and spleen. Overexpressed in a significant proportion of breast cancers. Expression is induced by ETV1. Belongs to the deoxyribonucleoside 5'-monophosphate N- glycosidase family. protein binding nucleus cytoplasm cytosol purine nucleotide catabolic process metabolic process nucleoside metabolic process nucleotide metabolic process deoxyribonucleoside monophosphate catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds hydrolase activity, hydrolyzing N-glycosyl compounds positive regulation of cell growth epithelial cell differentiation identical protein binding protein homodimerization activity extracellular exosome deoxyribonucleoside 5'-monophosphate N-glycosidase activity  uc003ouo.1 uc003ouo.2 uc003ouo.3 uc003ouo.4 uc003ouo.5 
ENST00000230449.9 EXOC2 ENST00000230449.9 Homo sapiens exocyst complex component 2 (EXOC2), transcript variant 2, non-coding RNA. (from RefSeq NR_073064) ENST00000230449.1 ENST00000230449.2 ENST00000230449.3 ENST00000230449.4 ENST00000230449.5 ENST00000230449.6 ENST00000230449.7 ENST00000230449.8 EXOC2_HUMAN NR_073064 Q5JPC8 Q96AN6 Q96KP1 Q9NUZ8 Q9UJM7 SEC5 SEC5L1 uc003mtd.1 uc003mtd.2 uc003mtd.3 uc003mtd.4 uc003mtd.5 uc003mtd.6 The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8. Interacts with EXOC3L1 (By similarity). Interacts with RALA and GNEFR/DELGEF. Interaction with GNEFR occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP. Interacts with RALB. Widely expressed with highest levels in brain and placenta. Interacts with RALA through the TIG domain (By similarity). Belongs to the SEC5 family. Contains 1 IPT/TIG domain. Sequence=BAA91963.1; Type=Erroneous initiation; exocyst protein binding cytosol plasma membrane exocytosis Golgi to plasma membrane transport protein transport membrane vesicle-mediated transport Ral GTPase binding protein kinase binding protein N-terminus binding Flemming body regulation of entry of bacterium into host cell  uc003mtd.1 uc003mtd.2 uc003mtd.3 uc003mtd.4 uc003mtd.5 uc003mtd.6 
ENST00000230461.11 TMEM30A ENST00000230461.11 Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA. (from RefSeq NM_018247) A8K9V8 C6orf67 CC50A_HUMAN CDC50A E1P539 ENST00000230461.1 ENST00000230461.10 ENST00000230461.2 ENST00000230461.3 ENST00000230461.4 ENST00000230461.5 ENST00000230461.6 ENST00000230461.7 ENST00000230461.8 ENST00000230461.9 NM_018247 Q658Z3 Q96H09 Q9NSL9 Q9NV96 uc003phw.1 uc003phw.2 uc003phw.3 uc003phw.4 Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NV96-1; Sequence=Displayed; Name=2; IsoId=Q9NV96-2; Sequence=VSP_019568; Name=3; IsoId=Q9NV96-3; Sequence=VSP_019567; Note=No experimental confirmation available; Belongs to the CDC50/LEM3 family. protein binding endoplasmic reticulum Golgi apparatus plasma membrane drug transmembrane transport lipid transport positive regulation of neuron projection development aminophospholipid transporter activity phospholipid transport aminophospholipid transport membrane integral component of membrane apical plasma membrane transport vesicle membrane cytoplasmic vesicle azurophil granule membrane specific granule membrane protein localization to endosome neutrophil degranulation phospholipid translocation positive regulation of protein exit from endoplasmic reticulum  uc003phw.1 uc003phw.2 uc003phw.3 uc003phw.4 
ENST00000230480.10 VEGFA ENST00000230480.10 Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 10, mRNA. (from RefSeq NM_001287044) A2A2V4 A2A2V4_HUMAN ENST00000230480.1 ENST00000230480.2 ENST00000230480.3 ENST00000230480.4 ENST00000230480.5 ENST00000230480.6 ENST00000230480.7 ENST00000230480.8 ENST00000230480.9 NM_001287044 RP1-261G23.1-009 VEGF uc032wwf.1 uc032wwf.2 This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020]. Belongs to the PDGF/VEGF growth factor family. signal transduction growth factor activity heparin binding membrane  uc032wwf.1 uc032wwf.2 
ENST00000230495.2 H3P16 ENST00000230495.2 H3P16 (from geneSymbol) DQ590281 ENST00000230495.1 uc286vxo.1  uc286vxo.1 
ENST00000230510.7 TTK ENST00000230510.7 Homo sapiens TTK protein kinase (TTK), transcript variant 2, mRNA. (from RefSeq NM_001166691) A8K8U5 B2RDW2 E1P543 ENST00000230510.1 ENST00000230510.2 ENST00000230510.3 ENST00000230510.4 ENST00000230510.5 ENST00000230510.6 MPS1 MPS1L1 NM_001166691 P33981 Q15272 Q5TCS0 Q9BW51 Q9NTM0 TTK_HUMAN uc003pjb.1 uc003pjb.2 uc003pjb.3 uc003pjb.4 uc003pjb.5 This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]. Phosphorylates proteins on serine, threonine, and tyrosine. Probably associated with cell proliferation. Essential for chromosome alignment by enhancing AURKB activity (via direct CDCA8 phosphorylation) at the centromere, and for the mitotic checkpoint. ATP + a protein = ADP + a phosphoprotein. Inhibited by the ATP-competitive kinase inhibitor, SP600125. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P33981-1; Sequence=Displayed; Name=2; IsoId=P33981-2; Sequence=VSP_043072; Note=No experimental confirmation available; Present in rapidly proliferating cell lines. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Contains 1 protein kinase domain. Sequence=AAA61239.1; Type=Erroneous initiation; Sequence=CAB87580.1; Type=Erroneous initiation; nucleotide binding kinetochore protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity protein binding ATP binding nucleus cytoplasm spindle protein phosphorylation spindle organization mitotic spindle organization chromosome segregation mitotic cell cycle checkpoint mitotic spindle assembly checkpoint positive regulation of cell proliferation positive regulation of pathway-restricted SMAD protein phosphorylation membrane kinase activity phosphorylation female meiosis chromosome segregation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-tyrosine phosphorylation meiotic spindle assembly checkpoint protein localization to kinetochore protein localization to chromosome protein homodimerization activity kinetochore binding protein autophosphorylation chromosome separation protein localization to meiotic spindle midzone  uc003pjb.1 uc003pjb.2 uc003pjb.3 uc003pjb.4 uc003pjb.5 
ENST00000230529.9 CCN6 ENST00000230529.9 Homo sapiens cellular communication network factor 6 (CCN6), transcript variant 1, mRNA. (from RefSeq NM_003880) ENST00000230529.1 ENST00000230529.2 ENST00000230529.3 ENST00000230529.4 ENST00000230529.5 ENST00000230529.6 ENST00000230529.7 ENST00000230529.8 NM_003880 O95389 Q3KR29 Q5H8W4 Q6UXH6 UNQ462/PRO790/PRO956 WISP3 WISP3_HUMAN uc003pvm.1 uc003pvm.2 uc003pvm.3 uc003pvm.4 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Appears to be required for normal postnatal skeletal growth and cartilage homeostasis. Secreted (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95389-1; Sequence=Displayed; Name=2; IsoId=O95389-2; Sequence=VSP_037803; Predominant expression in adult kidney and testis and fetal kidney. Weaker expression found in placenta, ovary, prostate and small intestine. Also expressed in skeletally- derived cells such as synoviocytes and articular cartilage chondrocytes. Defects in WISP3 are the cause of progressive pseudorheumatoid arthropathy of childhood (PPAC) [MIM:208230]. PPAC is an autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging. Belongs to the CCN family. Contains 1 CTCK (C-terminal cystine knot-like) domain. Contains 1 IGFBP N-terminal domain. Contains 1 TSP type-1 domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/WISP3ID469ch6q22.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WISP3"; integrin binding insulin-like growth factor binding extracellular region extracellular space mitochondrion endoplasmic reticulum cell adhesion signal transduction cell-cell signaling growth factor activity heparin binding extracellular matrix regulation of mitochondrial membrane potential negative regulation of cell death regulation of reactive oxygen species biosynthetic process  uc003pvm.1 uc003pvm.2 uc003pvm.3 uc003pvm.4 
ENST00000230538.12 LAMA4 ENST00000230538.12 Homo sapiens laminin subunit alpha 4 (LAMA4), transcript variant 1, mRNA. (from RefSeq NM_001105206) A0A0A0MQS9 ENST00000230538.1 ENST00000230538.10 ENST00000230538.11 ENST00000230538.2 ENST00000230538.3 ENST00000230538.4 ENST00000230538.5 ENST00000230538.6 ENST00000230538.7 ENST00000230538.8 ENST00000230538.9 NM_001105206 uc003pvu.1 uc003pvu.2 uc003pvu.3 uc003pvu.4 uc003pvu.5 Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011].  uc003pvu.1 uc003pvu.2 uc003pvu.3 uc003pvu.4 uc003pvu.5 
ENST00000230565.3 ENPP5 ENST00000230565.3 Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase family member 5 (ENPP5), transcript variant 2, mRNA. (from RefSeq NM_021572) ENPP5_HUMAN ENST00000230565.1 ENST00000230565.2 NM_021572 Q5TFV2 Q6UX49 Q9UJA9 UNQ550/PRO1107 uc003oxz.1 uc003oxz.2 This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]. May play a role in neuronal cell communication. Lacks nucleotide pyrophosphatase and lysopholipase D activity (By similarity). Secreted (Potential). Membrane; Single-pass membrane protein (Potential). N-glycosylated (By similarity). Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. catalytic activity extracellular region plasma membrane cell communication membrane integral component of membrane hydrolase activity metal ion binding  uc003oxz.1 uc003oxz.2 
ENST00000230568.5 LY86 ENST00000230568.5 Homo sapiens lymphocyte antigen 86 (LY86), mRNA. (from RefSeq NM_004271) ENST00000230568.1 ENST00000230568.2 ENST00000230568.3 ENST00000230568.4 LY86_HUMAN MD1 NM_004271 O95711 Q9UQC4 uc003mwy.1 uc003mwy.2 uc003mwy.3 May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression (By similarity). M-shaped tetramer of two CD180-LY86 heterodimers. Secreted, extracellular space. Note=Associated with CD180 at the cell surface. Highly expressed in B-cells, monocytes and tonsil. In monocytes, down-regulated by the cell-wall fraction of Mycobacterium bovis (BCG-CWS). Sequence=BAA76410.1; Type=Erroneous initiation; immune system process protein binding extracellular region extracellular space inflammatory response immune response positive regulation of lipopolysaccharide-mediated signaling pathway innate immune response  uc003mwy.1 uc003mwy.2 uc003mwy.3 
ENST00000230582.8 PRSS16 ENST00000230582.8 Homo sapiens serine protease 16 (PRSS16), mRNA. (from RefSeq NM_005865) ENST00000230582.1 ENST00000230582.2 ENST00000230582.3 ENST00000230582.4 ENST00000230582.5 ENST00000230582.6 ENST00000230582.7 NM_005865 O75416 Q9NQE7 TSSP TSSP_HUMAN uc003nja.1 uc003nja.2 uc003nja.3 uc003nja.4 uc003nja.5 This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF052514.1, AK314037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465418 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230582.8/ ENSP00000230582.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Protease that may play a role in T-cell development. Cytoplasmic vesicle. Note=Vesicular, either lysosomal or endosomal. Expressed predominantly in cortical thymic epithelial cells. Expressed in fetal thymus. Belongs to the peptidase S28 family. Sequence=CAB94769.1; Type=Erroneous gene model prediction; lysosome endosome proteolysis peptidase activity serine-type peptidase activity dipeptidyl-peptidase activity hydrolase activity protein catabolic process cytoplasmic vesicle  uc003nja.1 uc003nja.2 uc003nja.3 uc003nja.4 uc003nja.5 
ENST00000230588.9 MEP1A ENST00000230588.9 Homo sapiens meprin A subunit alpha (MEP1A), mRNA. (from RefSeq NM_005588) A2RRM4 B0AZP9 B2RCS2 ENST00000230588.1 ENST00000230588.2 ENST00000230588.3 ENST00000230588.4 ENST00000230588.5 ENST00000230588.6 ENST00000230588.7 ENST00000230588.8 MEP1A_HUMAN NM_005588 Q16819 Q8TDC9 Q9H1R1 uc010jzh.1 uc010jzh.2 uc010jzh.3 Hydrolysis of protein and peptide substrates preferentially on carboxyl side of hydrophobic residues. Binds 1 zinc ion per subunit (By similarity). Inhibited by several hydroxamate compounds, the most potent inhibitor is actinonin. Kinetic parameters: KM=110 uM for GRP; KM=18.0 uM for PTH 12-34; KM=33.9 uM for secretin; KM=41.3 uM for substance P; KM=56.5 uM for LHRH; KM=73.2 uM for orcokinin; KM=292 uM for alpha-MSH; KM=125 uM for bradykinin; KM=200 uM for gastrin; Homotetramer consisting of disulfide-linked alpha subunits, homooligomer consisting of disulfide-linked alpha subunit homodimers, or heterotetramer of two alpha and two beta subunits formed by non-covalent association of two disulfide- linked heterodimers (By similarity). Interacts with MBL2 through its carbohydrate moiety. This interaction may inhibit its catalytic activity (By similarity). Membrane; Single-pass type I membrane protein. N-glycosylated; contains GlcNAc, galactose, mannose and a small amount of fucose (By similarity). Belongs to the peptidase M12A family. Contains 1 EGF-like domain. Contains 1 MAM domain. Contains 1 MATH domain. metalloendopeptidase activity protein binding extracellular space integral component of plasma membrane proteolysis peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane hydrolase activity meprin A complex metal ion binding extracellular exosome  uc010jzh.1 uc010jzh.2 uc010jzh.3 
ENST00000230640.10 MTREX ENST00000230640.10 Homo sapiens Mtr4 exosome RNA helicase (MTREX), mRNA. (from RefSeq NM_015360) ENST00000230640.1 ENST00000230640.2 ENST00000230640.3 ENST00000230640.4 ENST00000230640.5 ENST00000230640.6 ENST00000230640.7 ENST00000230640.8 ENST00000230640.9 KIAA0052 Mtr4 NM_015360 P42285 Q2M386 Q6MZZ8 Q6P170 Q8N5R0 Q8TAG2 SK2L2_HUMAN SKIV2L2 uc003jpy.1 uc003jpy.2 uc003jpy.3 uc003jpy.4 uc003jpy.5 uc003jpy.6 May be involved in pre-mRNA splicing. Associated with the RNA exosome complex and involved in the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA. ATP + H(2)O = ADP + phosphate. Associated with the RNA exosome complex. Identified in the spliceosome C complex. Q99547:MPHOSPH6; NbExp=2; IntAct=EBI-347612, EBI-373187; Nucleus, nucleolus. Belongs to the helicase family. SKI2 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=AAH65258.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAA06124.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding mRNA splicing, via spliceosome maturation of 5.8S rRNA nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleoplasm spliceosomal complex nucleolus rRNA processing mRNA processing RNA catabolic process RNA splicing hydrolase activity TRAMP complex catalytic step 2 spliceosome nuclear exosome (RNase complex) exosome (RNase complex)  uc003jpy.1 uc003jpy.2 uc003jpy.3 uc003jpy.4 uc003jpy.5 uc003jpy.6 
ENST00000230658.12 ISL1 ENST00000230658.12 Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA. (from RefSeq NM_002202) ENST00000230658.1 ENST00000230658.10 ENST00000230658.11 ENST00000230658.2 ENST00000230658.3 ENST00000230658.4 ENST00000230658.5 ENST00000230658.6 ENST00000230658.7 ENST00000230658.8 ENST00000230658.9 ISL1_HUMAN NM_002202 P20663 P47894 P61371 uc003jor.1 uc003jor.2 uc003jor.3 uc003jor.4 uc003jor.5 This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U07559.1, BC031213.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000230658.12/ ENSP00000230658.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Binds to one of the cis-acting domain of the insulin gene enhancer. Nucleus. Expressed in subsets of neurons of the adrenal medulla and dorsal root ganglion, inner nuclear and ganglion cell layers in the retina, the pineal and some regions of the brain. Contains 1 homeobox DNA-binding domain. Contains 2 LIM zinc-binding domains. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding neural crest cell migration heart morphogenesis secondary heart field specification outflow tract septum morphogenesis outflow tract morphogenesis endocardial cushion morphogenesis cardiac right ventricle morphogenesis regulation of secondary heart field cardioblast proliferation DNA binding chromatin binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated multicellular organism development axonogenesis heart development positive regulation of cell proliferation regulation of gene expression positive regulation of vascular endothelial growth factor production positive regulation of epithelial to mesenchymal transition ligand-dependent nuclear receptor binding spinal cord motor neuron cell fate specification spinal cord motor neuron differentiation visceral motor neuron differentiation trigeminal nerve development pituitary gland development cell differentiation neuron differentiation estrogen receptor binding pancreas development axon regeneration retinal ganglion cell axon guidance positive regulation of insulin secretion positive regulation of granulocyte macrophage colony-stimulating factor production positive regulation of interferon-gamma production positive regulation of interleukin-1 alpha production positive regulation of interleukin-1 beta production positive regulation of interleukin-12 production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production negative regulation of intracellular estrogen receptor signaling pathway positive regulation of histone acetylation positive regulation of tyrosine phosphorylation of STAT protein positive regulation of DNA binding bHLH transcription factor binding negative regulation of neuron apoptotic process sequence-specific DNA binding positive regulation of cell differentiation negative regulation of neuron differentiation positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter metal ion binding neuron fate commitment neuron fate specification mesenchymal cell differentiation sensory system development peripheral nervous system neuron development peripheral nervous system neuron axonogenesis negative regulation of epithelial cell proliferation negative regulation of inflammatory response ventricular cardiac muscle tissue morphogenesis pharyngeal system development cardiac muscle cell myoblast differentiation innervation atrial septum morphogenesis cardiac cell fate determination cellular response to glucocorticoid stimulus positive regulation of granulocyte colony-stimulating factor production negative regulation of protein homodimerization activity negative regulation of canonical Wnt signaling pathway positive regulation of macrophage colony-stimulating factor production promoter-specific chromatin binding  uc003jor.1 uc003jor.2 uc003jor.3 uc003jor.4 uc003jor.5 
ENST00000230671.7 SLC6A7 ENST00000230671.7 Homo sapiens solute carrier family 6 member 7 (SLC6A7), mRNA. (from RefSeq NM_014228) ENST00000230671.1 ENST00000230671.2 ENST00000230671.3 ENST00000230671.4 ENST00000230671.5 ENST00000230671.6 NM_014228 PROT Q0VG81 Q52LU6 Q99884 SC6A7_HUMAN uc003lrr.1 uc003lrr.2 uc003lrr.3 uc003lrr.4 This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript matching the genomic sequence was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK096607.1, SRR1803614.50508.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000230671.7/ ENSP00000230671.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals. Membrane; Multi-pass membrane protein. Brain. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A7 subfamily. proline:sodium symporter activity neurotransmitter:sodium symporter activity plasma membrane integral component of plasma membrane neurotransmitter transport amino acid transport L-proline transmembrane transporter activity symporter activity proline transport membrane integral component of membrane proline transmembrane transport  uc003lrr.1 uc003lrr.2 uc003lrr.3 uc003lrr.4 
ENST00000230771.9 HARS2 ENST00000230771.9 Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (HARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_012208) ENST00000230771.1 ENST00000230771.2 ENST00000230771.3 ENST00000230771.4 ENST00000230771.5 ENST00000230771.6 ENST00000230771.7 ENST00000230771.8 HARSL HARSR HO3 NM_012208 P49590 SYHM_HUMAN uc003lgx.1 uc003lgx.2 uc003lgx.3 uc003lgx.4 uc003lgx.5 uc003lgx.6 uc003lgx.7 Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His). Mitochondrion matrix (By similarity). A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver. Belongs to the class-II aminoacyl-tRNA synthetase family. nucleotide binding RNA binding aminoacyl-tRNA ligase activity histidine-tRNA ligase activity protein binding ATP binding cytoplasm mitochondrion mitochondrial matrix cytosol translation tRNA aminoacylation for protein translation histidyl-tRNA aminoacylation ligase activity identical protein binding protein homodimerization activity  uc003lgx.1 uc003lgx.2 uc003lgx.3 uc003lgx.4 uc003lgx.5 uc003lgx.6 uc003lgx.7 
ENST00000230792.7 NUDT12 ENST00000230792.7 Homo sapiens nudix hydrolase 12 (NUDT12), transcript variant 1, mRNA. (from RefSeq NM_031438) B3KUW2 ENST00000230792.1 ENST00000230792.2 ENST00000230792.3 ENST00000230792.4 ENST00000230792.5 ENST00000230792.6 NM_031438 NUD12_HUMAN Q8TAL7 Q9BQG2 uc003koi.1 uc003koi.2 uc003koi.3 uc003koi.4 uc003koi.5 Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]. Hydrolyzes NAD(P)H to NMNH and AMP (2',5'-ADP), and diadenosine diphosphate to AMP. Has also activity towards NAD(P)(+), ADP-ribose and diadenosine triphosphate. May act to regulate the concentration of peroxisomal nicotinamide nucleotide cofactors required for oxidative metabolism in this organelle. NAD(+) + H(2)O = AMP + NMN. Magnesium or manganese (By similarity). Kinetic parameters: KM=11 uM for NADH; KM=16 uM for NADPH; KM=190 uM for NAD; pH dependence: Optimum pH is 8-9; Peroxisome. Belongs to the Nudix hydrolase family. NudC subfamily. Contains 3 ANK repeats. Contains 1 nudix hydrolase domain. NAD+ diphosphatase activity protein binding nucleus cytoplasm peroxisome peroxisomal matrix cytosol NADH metabolic process NADP catabolic process hydrolase activity NAD catabolic process NAD biosynthesis via nicotinamide riboside salvage pathway NADH pyrophosphatase activity metal ion binding  uc003koi.1 uc003koi.2 uc003koi.3 uc003koi.4 uc003koi.5 
ENST00000230859.8 TENT4A ENST00000230859.8 Homo sapiens terminal nucleotidyltransferase 4A (TENT4A), transcript variant 1, mRNA. (from RefSeq NM_006999) A0A0X1KG68 ENST00000230859.1 ENST00000230859.2 ENST00000230859.3 ENST00000230859.4 ENST00000230859.5 ENST00000230859.6 ENST00000230859.7 NM_006999 uc003jdx.1 uc003jdx.2 uc003jdx.3 The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010].  uc003jdx.1 uc003jdx.2 uc003jdx.3 
ENST00000230882.9 GHR ENST00000230882.9 Homo sapiens growth hormone receptor (GHR), transcript variant 9, mRNA. (from RefSeq NM_001242406) ENST00000230882.1 ENST00000230882.2 ENST00000230882.3 ENST00000230882.4 ENST00000230882.5 ENST00000230882.6 ENST00000230882.7 ENST00000230882.8 GHR_HUMAN NM_001242406 P10912 Q9HCX2 uc003jmt.1 uc003jmt.2 uc003jmt.3 uc003jmt.4 uc003jmt.5 This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]. Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding, couples to the JAK2/STAT5 pathway (By similarity). The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling. Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling. On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain (By similarity). Binding to SOCS3 inhibits JAK2 activation, binding to CIS and SOCS2 inhibits STAT5 activation (By similarity). Interacts with ADAM17 (By similarity). Q16829:DUSP7; NbExp=2; IntAct=EBI-286316, EBI-1265847; P01241:GH1; NbExp=3; IntAct=EBI-286316, EBI-1026046; P16333:NCK1; NbExp=2; IntAct=EBI-286316, EBI-389883; Q9JLI4:Ncoa6 (xeno); NbExp=2; IntAct=EBI-286316, EBI-286271; P18031:PTPN1; NbExp=5; IntAct=EBI-286316, EBI-968788; P17706:PTPN2; NbExp=8; IntAct=EBI-286316, EBI-984930; P26045:PTPN3; NbExp=4; IntAct=EBI-286316, EBI-1047946; P43378:PTPN9; NbExp=2; IntAct=EBI-286316, EBI-742898; P23467:PTPRB; NbExp=3; IntAct=EBI-286316, EBI-1265766; Q9HD43:PTPRH; NbExp=4; IntAct=EBI-286316, EBI-1267176; Q12913:PTPRJ; NbExp=2; IntAct=EBI-286316, EBI-2264500; Cell membrane; Single-pass type I membrane protein. Note=On growth hormone binding, GHR is ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway (By similarity). Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the cell membrane and is not internalized. Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of circulating GH (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GHRfl; IsoId=P10912-1; Sequence=Displayed; Name=2; Synonyms=GHRtr, GHR1-279; IsoId=P10912-2; Sequence=VSP_010227, VSP_010228; Name=3; Synonyms=GHR1-277; IsoId=P10912-3; Sequence=VSP_010229, VSP_010230; Name=4; Synonyms=GHRd3; IsoId=P10912-4; Sequence=VSP_010225, VSP_010226; Note=Arises by species-specific retrovirus-mediated alternative splice mimicry; Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is predominant in chorion and decidua. Isoform 4 is highly expressed in placental villi. Isoform 2 is expressed in lung, stomach and muscle. Low levels in liver. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein (GHBP). The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin conjugation system on to the receptor and for its internalization. The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by ADAM17/TACE. Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational change in GHR rendering the receptor inaccessible to ADAM17 (By similarity). On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2 (By similarity). On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not sufficient for GHR internalization (By similarity). Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890] patients carrying a mutation in the LDLR gene. Defects in GHR are a cause of Laron syndrome (LARS) [MIM:262500]. A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. Defects in GHR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is defined by a subnormal rate of growth. Belongs to the type I cytokine receptor family. Type 1 subfamily. Contains 1 fibronectin type-III domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GHR"; activation of MAPK activity cytokine receptor activity growth hormone receptor activity protein binding extracellular region extracellular space cytosol plasma membrane integral component of plasma membrane endocytosis JAK-STAT cascade external side of plasma membrane cell surface membrane integral component of membrane peptide hormone binding cytokine-mediated signaling pathway taurine metabolic process growth factor binding protein kinase binding cytokine binding receptor internalization response to estradiol cellular response to hormone stimulus cytoplasmic ribonucleoprotein granule regulation of multicellular organism growth positive regulation of multicellular organism growth hormone metabolic process positive regulation of tyrosine phosphorylation of STAT protein identical protein binding protein homodimerization activity activation of Janus kinase activity receptor complex positive regulation of JAK-STAT cascade response to cycloheximide insulin-like growth factor receptor signaling pathway positive regulation of peptidyl-tyrosine phosphorylation growth hormone receptor signaling pathway JAK-STAT cascade involved in growth hormone signaling pathway proline-rich region binding growth hormone receptor complex  uc003jmt.1 uc003jmt.2 uc003jmt.3 uc003jmt.4 uc003jmt.5 
ENST00000230895.11 DAP ENST00000230895.11 Homo sapiens death associated protein (DAP), transcript variant 2, mRNA. (from RefSeq NM_004394) DAP1 DAP1_HUMAN ENST00000230895.1 ENST00000230895.10 ENST00000230895.2 ENST00000230895.3 ENST00000230895.4 ENST00000230895.5 ENST00000230895.6 ENST00000230895.7 ENST00000230895.8 ENST00000230895.9 NM_004394 P51397 Q6FGC3 Q9BUC9 uc003jez.1 uc003jez.2 uc003jez.3 uc003jez.4 uc003jez.5 uc003jez.6 This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]. Negative regulator of autophagy. Involved in mediating interferon-gamma-induced cell death. Phosphorylated. Phosphorylation by MTOR inhibits the suppressive activity of DAP toward autophagy. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dap/"; autophagy apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of autophagy negative regulation of NF-kappaB transcription factor activity cellular response to amino acid starvation negative regulation of transcription, DNA-templated death domain binding apoptotic signaling pathway  uc003jez.1 uc003jez.2 uc003jez.3 uc003jez.4 uc003jez.5 uc003jez.6 
ENST00000230901.9 BRD8 ENST00000230901.9 Homo sapiens bromodomain containing 8 (BRD8), transcript variant 1, mRNA. (from RefSeq NM_006696) BRD8_HUMAN ENST00000230901.1 ENST00000230901.2 ENST00000230901.3 ENST00000230901.4 ENST00000230901.5 ENST00000230901.6 ENST00000230901.7 ENST00000230901.8 NM_006696 O43178 Q15355 Q58AB0 Q59GN0 Q969M9 Q9H0E9 SMAP SMAP2 uc003lcg.1 uc003lcg.2 uc003lcg.3 uc003lcg.4 The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]. May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. BRD8 isoform 2 interacts with RXRA/NR2B1 and THRB/ERBA2 (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9H0E9-1; Sequence=Displayed; Name=2; IsoId=Q9H0E9-2; Sequence=VSP_012880, VSP_012883, VSP_012884; Note=Phosphorylated on Thr-264, Ser-268 and Ser-284; Name=3; IsoId=Q9H0E9-3; Sequence=VSP_012879, VSP_012880, VSP_012881, VSP_012882, VSP_012883, VSP_012884; Note=Phosphorylated on Thr-124, Ser-128 and Ser-144; Name=4; IsoId=Q9H0E9-4; Sequence=VSP_012880, VSP_023187, VSP_023188, VSP_023189, VSP_023190, VSP_023191; Note=Phosphorylated on Thr-264, Ser-268 and Ser-284; Expressed in adipose tissue, brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Contains 2 bromo domains. It is uncertain whether Met-1 or Met-32 is the initiator. Sequence=AAB87858.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH08039.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH08076.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA63925.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Swr1 complex transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm mitochondrion chromatin organization regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter signal transduction cell surface receptor signaling pathway intracellular receptor signaling pathway NuA4 histone acetyltransferase complex regulation of growth histone H4 acetylation histone H2A acetylation  uc003lcg.1 uc003lcg.2 uc003lcg.3 uc003lcg.4 
ENST00000230914.4 MRPS30 ENST00000230914.4 mitochondrial ribosomal protein S30 (from HGNC MRPS30) ENST00000230914.1 ENST00000230914.2 ENST00000230914.3 uc063dkz.1  uc063dkz.1 
ENST00000230990.7 HBEGF ENST00000230990.7 Homo sapiens heparin binding EGF like growth factor (HBEGF), mRNA. (from RefSeq NM_001945) B2R821 DTR DTS ENST00000230990.1 ENST00000230990.2 ENST00000230990.3 ENST00000230990.4 ENST00000230990.5 ENST00000230990.6 HBEGF_HUMAN HEGFL NM_001945 Q99075 uc003lfi.1 uc003lfi.2 uc003lfi.3 uc003lfi.4 uc003lfi.5 Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Also acts as a diphtheria toxin receptor. Interacts with FBLN1 (By similarity). Interacts with EGFR and ERBB4. Heparin-binding EGF-like growth factor: Secreted, extracellular space. Note=Mature HB-EGF is released into the extracellular space and probably binds to a receptor. Proheparin-binding EGF-like growth factor: Cell membrane; Single-pass type I membrane protein. Several N-termini have been identified by direct sequencing. The forms with N-termini 63, 73 and 74 have been tested and found to be biologically active. O-glycosylated with core 1 or possibly core 8 glycans. Thr-47 is a minor glycosylation site compared to Thr-44. Contains 1 EGF-like domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dtr/"; MAPK cascade epidermal growth factor receptor binding extracellular region extracellular space plasma membrane integral component of plasma membrane signal transduction epidermal growth factor receptor signaling pathway muscle organ development regulation of heart contraction growth factor activity heparin binding positive regulation of cell proliferation cell surface membrane integral component of membrane cell migration positive regulation of cell growth positive regulation of cell migration clathrin-coated vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane wound healing, spreading of epidermal cells ERBB2 signaling pathway negative regulation of epidermal growth factor receptor signaling pathway positive regulation of smooth muscle cell proliferation positive regulation of peptidyl-tyrosine phosphorylation negative regulation of elastin biosynthetic process positive regulation of keratinocyte migration positive regulation of protein kinase B signaling cell chemotaxis membrane organization positive regulation of wound healing regulation of cell motility  uc003lfi.1 uc003lfi.2 uc003lfi.3 uc003lfi.4 uc003lfi.5 
ENST00000231004.5 LOX ENST00000231004.5 Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA. (from RefSeq NM_002317) B2R5Q3 ENST00000231004.1 ENST00000231004.2 ENST00000231004.3 ENST00000231004.4 LYOX_HUMAN NM_002317 P28300 Q5FWF0 uc003ksu.1 uc003ksu.2 uc003ksu.3 uc003ksu.4 uc003ksu.5 This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]. Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. In addition to cross-linking of extracellular matrix proteins, may have a direct role in tumor suppression. Peptidyl-L-lysyl-peptide + O(2) + H(2)O = peptidyl-allysyl-peptide + NH(3) + H(2)O(2). Copper. Contains 1 lysine tyrosylquinone (By similarity). O95967:EFEMP2; NbExp=4; IntAct=EBI-3893481, EBI-743414; P15502:ELN; NbExp=2; IntAct=EBI-3893481, EBI-1222108; P35555:FBN1; NbExp=2; IntAct=EBI-3893481, EBI-2505934; Secreted, extracellular space. Heart, placenta, skeletal muscle, kidney, lung and pancreas. The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. The propeptide plays a role in directing the deposition of this enzyme to elastic fibers, via interaction with tropoelastin (By similarity). Belongs to the lysyl oxidase family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LOXID41191ch5q23.html"; blood vessel development osteoblast differentiation regulation of protein phosphorylation protein-lysine 6-oxidase activity copper ion binding protein binding collagen binding extracellular region collagen trimer extracellular space nucleus cellular protein modification process heart development response to hormone regulation of gene expression regulation of striated muscle tissue development oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor regulation of transforming growth factor beta receptor signaling pathway peptidyl-lysine oxidation protein oxidation extracellular matrix organization collagen fibril organization bone mineralization lung development extracellular matrix platelet-derived growth factor receptor-beta signaling pathway aorta development ascending aorta development descending aorta development wound healing response to drug regulation of apoptotic process protein kinase B signaling regulation of megakaryocyte differentiation muscle cell cellular homeostasis metal ion binding elastic fiber assembly blood vessel morphogenesis response to steroid hormone muscle fiber development oxidation-reduction process cell chemotaxis connective tissue development cellular response to organic substance DNA biosynthetic process regulation of receptor binding regulation of bone development cellular response to chemokine regulation of platelet-derived growth factor receptor-beta signaling pathway  uc003ksu.1 uc003ksu.2 uc003ksu.3 uc003ksu.4 uc003ksu.5 
ENST00000231009.3 GZMK ENST00000231009.3 Homo sapiens granzyme K (GZMK), mRNA. (from RefSeq NM_002104) B2R563 ENST00000231009.1 ENST00000231009.2 GRAK_HUMAN NM_002104 P49863 TRYP2 uc003jpl.1 uc003jpl.2 uc003jpl.3 This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.268483.1, AK312074.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231009.3/ ENSP00000231009.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted. Cytoplasmic granule. Expressed in lung, spleen, thymus and peripheral blood leukocytes. Belongs to the peptidase S1 family. Granzyme subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity extracellular region proteolysis peptidase activity serine-type peptidase activity hydrolase activity positive regulation of apoptotic process negative regulation of oxidoreductase activity  uc003jpl.1 uc003jpl.2 uc003jpl.3 
ENST00000231021.9 CDH9 ENST00000231021.9 Homo sapiens cadherin 9 (CDH9), mRNA. (from RefSeq NM_016279) CADH9_HUMAN ENST00000231021.1 ENST00000231021.2 ENST00000231021.3 ENST00000231021.4 ENST00000231021.5 ENST00000231021.6 ENST00000231021.7 ENST00000231021.8 NM_016279 Q3B7I5 Q9ULB4 uc003jgs.1 uc003jgs.2 uc003jgs.3 This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB035302.1, SRR1660809.172028.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231021.9/ ENSP00000231021.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cell membrane; Single-pass type I membrane protein (Potential). Contains 5 cadherin domains. cell morphogenesis molecular_function calcium ion binding plasma membrane cell-cell adherens junction cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules synapse assembly cytoskeletal protein binding cell surface membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex adherens junction organization protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding metal ion binding cell-cell adhesion integral component of postsynaptic membrane integral component of presynaptic membrane synaptic membrane adhesion  uc003jgs.1 uc003jgs.2 uc003jgs.3 
ENST00000231061.9 SPARC ENST00000231061.9 Homo sapiens secreted protein acidic and cysteine rich (SPARC), transcript variant 1, mRNA. (from RefSeq NM_003118) D3DQH9 ENST00000231061.1 ENST00000231061.2 ENST00000231061.3 ENST00000231061.4 ENST00000231061.5 ENST00000231061.6 ENST00000231061.7 ENST00000231061.8 NM_003118 ON P09486 Q6IBK4 SPRC_HUMAN uc003lui.1 uc003lui.2 uc003lui.3 uc003lui.4 uc003lui.5 uc003lui.6 This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]. Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity. Secreted, extracellular space, extracellular matrix, basement membrane. Note=In or around the basement membrane. Expressed at high levels in tissues undergoing morphogenesis, remodeling and wound repair. Belongs to the SPARC family. Contains 1 EF-hand domain. Contains 1 follistatin-like domain. Contains 1 Kazal-like domain. Sequence=AAA60993.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part; Name=Wikipedia; Note=Osteonectin entry; URL="http://en.wikipedia.org/wiki/Osteonectin"; ossification negative regulation of endothelial cell proliferation platelet degranulation extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region basement membrane extracellular space nucleus cytoplasm receptor-mediated endocytosis heart development response to gravity cell surface response to lead ion positive regulation of endothelial cell migration nuclear matrix negative regulation of angiogenesis regulation of cell morphogenesis extracellular matrix organization lung development extracellular matrix platelet alpha granule platelet alpha granule membrane platelet alpha granule lumen vesicle response to lipopolysaccharide response to L-ascorbic acid response to cytokine wound healing regulation of cell proliferation response to peptide hormone pigmentation synapse response to ethanol response to cadmium ion metal ion binding inner ear development regulation of synapse organization extracellular matrix binding response to glucocorticoid response to cAMP response to calcium ion bone development cellular response to growth factor stimulus endocytic vesicle lumen glutamatergic synapse mitochondrion plasma membrane  uc003lui.1 uc003lui.2 uc003lui.3 uc003lui.4 uc003lui.5 uc003lui.6 
ENST00000231121.3 HAND1 ENST00000231121.3 Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA. (from RefSeq NM_004821) BHLHA27 EHAND ENST00000231121.1 ENST00000231121.2 HAND1_HUMAN NM_004821 O96004 uc003lvn.1 uc003lvn.2 uc003lvn.3 uc003lvn.4 The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC021190.2, AF061756.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2153932 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231121.3/ ENSP00000231121.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'- NRTCTG-3' (non-canonical E-box) (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription factors). Interacts with MDFIC (By similarity). Nucleus, nucleoplasm (By similarity). Nucleus, nucleolus (By similarity). Note=Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity. Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity (By similarity). Heart. Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis in utero embryonic development mesoderm formation blastocyst development trophectodermal cell differentiation heart looping embryonic heart tube formation cardiac left ventricle formation cardiac right ventricle formation DNA binding transcription coactivator activity protein binding nucleus nucleoplasm nucleolus cytoplasm transcription from RNA polymerase II promoter multicellular organism development heart development transcription factor binding enzyme binding cell differentiation embryonic heart tube development odontogenesis of dentin-containing tooth identical protein binding protein homodimerization activity bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity ventricular cardiac muscle tissue morphogenesis cardiac septum morphogenesis mesenchyme development cartilage morphogenesis trophoblast giant cell differentiation determination of heart left/right asymmetry RNA polymerase II transcription factor complex negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding transcription regulatory region DNA binding  uc003lvn.1 uc003lvn.2 uc003lvn.3 uc003lvn.4 
ENST00000231130.3 PCDHB3 ENST00000231130.3 Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. (from RefSeq NM_018937) B2R8P2 ENST00000231130.1 ENST00000231130.2 NM_018937 PCDB3_HUMAN Q9Y5E6 uc003lio.1 uc003lio.2 uc003lio.3 uc003lio.4 uc003lio.5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: AK313451.1, AF217755.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231130.3/ ENSP00000231130.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  uc003lio.1 uc003lio.2 uc003lio.3 uc003lio.4 uc003lio.5 
ENST00000231134.8 PCDHB5 ENST00000231134.8 Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. (from RefSeq NM_015669) ENST00000231134.1 ENST00000231134.2 ENST00000231134.3 ENST00000231134.4 ENST00000231134.5 ENST00000231134.6 ENST00000231134.7 NM_015669 PCDB5_HUMAN Q549F4 Q9UFU9 Q9Y5E4 uc003liq.1 uc003liq.2 uc003liq.3 uc003liq.4 uc003liq.5 uc003liq.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660807.168422.1, SRR1660803.263366.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231134.8/ ENSP00000231134.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  uc003liq.1 uc003liq.2 uc003liq.3 uc003liq.4 uc003liq.5 uc003liq.6 
ENST00000231136.4 PCDHB6 ENST00000231136.4 Homo sapiens protocadherin beta 6 (PCDHB6), transcript variant 1, mRNA. (from RefSeq NM_018939) ENST00000231136.1 ENST00000231136.2 ENST00000231136.3 NM_018939 PCDB6_HUMAN Q9Y5E3 uc003lir.1 uc003lir.2 uc003lir.3 uc003lir.4 uc003lir.5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly cell-cell recognition membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules identical protein binding metal ion binding  uc003lir.1 uc003lir.2 uc003lir.3 uc003lir.4 uc003lir.5 
ENST00000231137.6 PCDHB7 ENST00000231137.6 Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. (from RefSeq NM_018940) A1L3Y8 ENST00000231137.1 ENST00000231137.2 ENST00000231137.3 ENST00000231137.4 ENST00000231137.5 NM_018940 PCDB7_HUMAN Q9Y5E2 uc003lit.1 uc003lit.2 uc003lit.3 uc003lit.4 uc003lit.5 uc003lit.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1803616.27540.1, AF217750.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231137.6/ ENSP00000231137.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane  uc003lit.1 uc003lit.2 uc003lit.3 uc003lit.4 uc003lit.5 uc003lit.6 
ENST00000231173.6 PCDHB15 ENST00000231173.6 Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. (from RefSeq NM_018935) ENST00000231173.1 ENST00000231173.2 ENST00000231173.3 ENST00000231173.4 ENST00000231173.5 NM_018935 PCDBF_HUMAN Q8IUX5 Q9Y5E8 uc003lje.1 uc003lje.2 uc003lje.3 uc003lje.4 uc003lje.5 uc003lje.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1803616.131073.1, SRR1803615.178351.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231173.6/ ENSP00000231173.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules nervous system development membrane integral component of membrane photoreceptor connecting cilium  uc003lje.1 uc003lje.2 uc003lje.3 uc003lje.4 uc003lje.5 uc003lje.6 
ENST00000231188.9 GRM6 ENST00000231188.9 Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity. (from UniProt O15303) BX647168 ENST00000231188.1 ENST00000231188.2 ENST00000231188.3 ENST00000231188.4 ENST00000231188.5 ENST00000231188.6 ENST00000231188.7 ENST00000231188.8 GPRC1F GRM6_HUMAN MGLUR6 O15303 uc003mjr.1 uc003mjr.2 uc003mjr.3 uc003mjr.4 Receptor for glutamate. The activity of this receptor is mediated by a G-protein that inhibits adenylate cyclase activity. Cell membrane; Multi-pass membrane protein. Defects in GRM6 are the cause of congenital stationary night blindness type 1B (CSNB1B) [MIM:257270]. This disorder consits of a previously unrecognized, autosomal recessive form of congenital night blindness associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced ON response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background. Belongs to the G-protein coupled receptor 3 family. Golgi membrane adenylate cyclase inhibiting G-protein coupled glutamate receptor activity G-protein coupled receptor activity protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway G-protein coupled glutamate receptor signaling pathway chemical synaptic transmission visual perception locomotory behavior glutamate receptor activity detection of visible light membrane integral component of membrane dendrite new growing cell tip protein homodimerization activity cell projection response to stimulus detection of light stimulus involved in visual perception sensory perception of light stimulus regulation of synaptic transmission, glutamatergic retina development in camera-type eye positive regulation of calcium ion import  uc003mjr.1 uc003mjr.2 uc003mjr.3 uc003mjr.4 
ENST00000231198.12 THG1L ENST00000231198.12 Homo sapiens tRNA-histidine guanylyltransferase 1 like (THG1L), transcript variant 1, mRNA. (from RefSeq NM_017872) D3DQJ5 ENST00000231198.1 ENST00000231198.10 ENST00000231198.11 ENST00000231198.2 ENST00000231198.3 ENST00000231198.4 ENST00000231198.5 ENST00000231198.6 ENST00000231198.7 ENST00000231198.8 ENST00000231198.9 ICF45 NM_017872 Q53G12 Q7L5R3 Q9H0S2 Q9NWX6 THG1_HUMAN uc003lxd.1 uc003lxd.2 uc003lxd.3 uc003lxd.4 uc003lxd.5 The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]. Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. p-tRNA(His) + ATP + GTP = pppG-P-tRNA(His) + AMP + diphosphate. Binds 2 magnesium ions per subunit. Homotetramer. Cytoplasm. Note=Found near the nuclear membrane. Expressed in many tissues. Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity). Belongs to the tRNA(His) guanylyltransferase family. Sequence=AAH01523.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH01852.2; Type=Erroneous initiation; Note=Translation N-terminally extended; tRNA binding nucleotide binding magnesium ion binding protein binding ATP binding GTP binding cytoplasm mitochondrion cytosol tRNA modification tRNA processing tRNA guanylyltransferase activity transferase activity nucleotidyltransferase activity identical protein binding metal ion binding protein homotetramerization tRNA 5'-end processing transferase complex  uc003lxd.1 uc003lxd.2 uc003lxd.3 uc003lxd.4 uc003lxd.5 
ENST00000231228.3 IL12B ENST00000231228.3 Homo sapiens interleukin 12B (IL12B), mRNA. (from RefSeq NM_002187) ENST00000231228.1 ENST00000231228.2 IL12B_HUMAN NKSF2 NM_002187 P29460 uc003lxr.1 uc003lxr.2 uc003lxr.3 This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M65290.1, M65272.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231228.3/ ENSP00000231228.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine- activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak- Stat signaling cascade, stimulates memory rather than naive T- cells and promotes production of proinflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis. Heterodimer with IL12A; disulfide-linked. The heterodimer is known as interleukin IL-12. Heterodimer with IL23A; disulfide- linked. The heterodimer is known as interleukin IL-23. Also secreted as a monomer. Self; NbExp=2; IntAct=EBI-1029614, EBI-1029614; P29459:IL12A; NbExp=2; IntAct=EBI-1029614, EBI-1029636; Q9EQ14:Il23a (xeno); NbExp=2; IntAct=EBI-1029614, EBI-2481329; Secreted. Known to be C-mannosylated in the recombinant protein; it is not yet known for sure if the wild-type protein is also modified. Defects in IL12B are a cause of mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]; also known as familial disseminated atypical mycobacterial infection. This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. Genetic variations in IL12B are a cause of susceptibility to psoriasis type 11 (PSORS11) [MIM:612599]. Psoriasis is a common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. Belongs to the type I cytokine receptor family. Type 3 subfamily. Contains 1 fibronectin type-III domain. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Name=IL12Bbase; Note=IL12B mutation db; URL="http://bioinf.uta.fi/IL12Bbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IL12B"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il12b/"; positive regulation of T cell mediated cytotoxicity positive regulation of defense response to virus by host natural killer cell activation involved in immune response positive regulation of T-helper 1 type immune response positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target negative regulation of inflammatory response to antigenic stimulus cytokine receptor activity cytokine activity cytokine receptor binding interleukin-12 receptor binding protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum lumen cytosol cell cycle arrest cell surface receptor signaling pathway cell proliferation external side of plasma membrane cell surface response to organic substance response to UV-B positive regulation of activation of Janus kinase activity membrane cell migration cytokine-mediated signaling pathway sensory perception of pain sexual reproduction cytokine binding natural killer cell activation late endosome lumen negative regulation of interleukin-10 production negative regulation of interleukin-17 production positive regulation of granulocyte macrophage colony-stimulating factor production positive regulation of interferon-gamma production positive regulation of interleukin-10 production positive regulation of interleukin-12 production positive regulation of interleukin-17 production positive regulation of tumor necrosis factor production positive regulation of natural killer cell activation positive regulation of natural killer cell proliferation positive regulation of mononuclear cell proliferation positive regulation of tissue remodeling positive regulation of smooth muscle cell apoptotic process interleukin-12-mediated signaling pathway T-helper 1 cell cytokine production interleukin-23-mediated signaling pathway regulation of cytokine biosynthetic process T-helper 1 type immune response T-helper cell differentiation interferon-gamma biosynthetic process positive regulation of T cell proliferation positive regulation of activated T cell proliferation interleukin-12 alpha subunit binding regulation of tyrosine phosphorylation of STAT protein positive regulation of tyrosine phosphorylation of STAT protein identical protein binding protein homodimerization activity defense response to protozoan receptor complex positive regulation of memory T cell differentiation interleukin-12 complex positive regulation of interferon-gamma biosynthetic process positive regulation of osteoclast differentiation positive regulation of cell adhesion protein heterodimerization activity negative regulation of smooth muscle cell proliferation positive regulation of lymphocyte proliferation positive regulation of inflammatory response defense response to Gram-negative bacterium positive regulation of NK T cell activation positive regulation of NK T cell proliferation defense response to virus interleukin-23 complex cellular response to lipopolysaccharide cellular response to interferon-gamma positive regulation of NIK/NF-kappaB signaling positive regulation of T-helper 17 type immune response positive regulation of T-helper 17 cell lineage commitment growth factor activity interleukin-23 receptor binding  uc003lxr.1 uc003lxr.2 uc003lxr.3 
ENST00000231229.8 BTNL8 ENST00000231229.8 Homo sapiens butyrophilin like 8 (BTNL8), transcript variant 1, mRNA. (from RefSeq NM_024850) BTNL8_HUMAN ENST00000231229.1 ENST00000231229.2 ENST00000231229.3 ENST00000231229.4 ENST00000231229.5 ENST00000231229.6 ENST00000231229.7 NM_024850 Q6UX41 Q9H730 UNQ702/PRO1347 uc003mmq.1 uc003mmq.2 uc003mmq.3 P04155:TFF1; NbExp=3; IntAct=EBI-4314379, EBI-743871; Membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6UX41-1; Sequence=Displayed; Name=2; IsoId=Q6UX41-2; Sequence=VSP_012718, VSP_012719; Note=No experimental confirmation available; Belongs to the immunoglobulin superfamily. BTN/MOG family. Contains 1 B30.2/SPRY domain. Contains 1 Ig-like V-type (immunoglobulin-like) domain. adaptive immune response immune system process receptor binding protein binding plasma membrane external side of plasma membrane membrane integral component of membrane regulation of immune response T cell receptor signaling pathway  uc003mmq.1 uc003mmq.2 uc003mmq.3 
ENST00000231238.10 TTC1 ENST00000231238.10 Homo sapiens tetratricopeptide repeat domain 1 (TTC1), transcript variant 1, mRNA. (from RefSeq NM_003314) B2RCT2 D3DQJ8 ENST00000231238.1 ENST00000231238.2 ENST00000231238.3 ENST00000231238.4 ENST00000231238.5 ENST00000231238.6 ENST00000231238.7 ENST00000231238.8 ENST00000231238.9 NM_003314 Q99614 Q9BVT3 TPR1 TTC1_HUMAN uc003lxu.1 uc003lxu.2 uc003lxu.3 uc003lxu.4 uc003lxu.5 uc003lxu.6 This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Interacts with the GAP domain of NF1. Contains 3 TPR repeats. protein binding peroxisomal membrane cytosol protein folding unfolded protein binding  uc003lxu.1 uc003lxu.2 uc003lxu.3 uc003lxu.4 uc003lxu.5 uc003lxu.6 
ENST00000231338.7 C1QTNF3 ENST00000231338.7 Homo sapiens C1q and TNF related 3 (C1QTNF3), transcript variant 1, mRNA. (from RefSeq NM_030945) C1QT3_HUMAN CTRP3 ENST00000231338.1 ENST00000231338.2 ENST00000231338.3 ENST00000231338.4 ENST00000231338.5 ENST00000231338.6 NM_030945 Q0VAN4 Q542Y2 Q6MZN1 Q96KY1 Q9BXJ4 UNQ753/PRO1484 uc003jin.1 uc003jin.2 uc003jin.3 uc003jin.4 Secreted (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BXJ4-1; Sequence=Displayed; Name=2; IsoId=Q9BXJ4-2; Sequence=VSP_011624, VSP_011625; Note=No experimental confirmation available; Name=3; IsoId=Q9BXJ4-3; Sequence=VSP_043157; Expressed in colon and small intestine. Contains 1 C1q domain. Contains 1 collagen-like domain. molecular_function protein binding extracellular region collagen trimer cell negative regulation of gene expression membrane cellular triglyceride homeostasis fat cell differentiation negative regulation of gluconeogenesis positive regulation of cytokine secretion negative regulation of inflammatory response extracellular exosome positive regulation of adiponectin secretion protein trimerization negative regulation of monocyte chemotactic protein-1 production negative regulation of interleukin-6 secretion negative regulation of NIK/NF-kappaB signaling  uc003jin.1 uc003jin.2 uc003jin.3 uc003jin.4 
ENST00000231357.7 IRX4 ENST00000231357.7 Homo sapiens iroquois homeobox 4 (IRX4), transcript variant 5, mRNA. (from RefSeq NM_016358) B2RMW5 D3DTC5 ENST00000231357.1 ENST00000231357.2 ENST00000231357.3 ENST00000231357.4 ENST00000231357.5 ENST00000231357.6 IRX4_HUMAN IRXA3 NM_016358 P78413 Q2NL64 Q9UHR2 uc003jcz.1 uc003jcz.2 uc003jcz.3 Likely to be an important mediator of ventricular differentiation during cardiac development. Nucleus (Probable). Predominantly expressed in cardiac ventricles. Belongs to the TALE/IRO homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter heart development sequence-specific DNA binding establishment of animal organ orientation  uc003jcz.1 uc003jcz.2 uc003jcz.3 
ENST00000231368.10 LNPEP ENST00000231368.10 Homo sapiens leucyl and cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. (from RefSeq NM_005575) ENST00000231368.1 ENST00000231368.2 ENST00000231368.3 ENST00000231368.4 ENST00000231368.5 ENST00000231368.6 ENST00000231368.7 ENST00000231368.8 ENST00000231368.9 LCAP_HUMAN NM_005575 O00769 OTASE Q15145 Q59H76 Q9TNQ2 Q9TNQ3 Q9UIQ6 Q9UIQ7 uc003kmv.1 uc003kmv.2 uc003kmv.3 This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Release of an N-terminal amino acid, cleaves before cysteine, leucine as well as other amino acids. Degrades peptide hormones such as oxytocin, vasopressin and angiotensin III, and plays a role in maintaining homeostasis during pregnancy. May be involved in the inactivation of neuronal peptides in the brain. Cleaves Met-enkephalin and dynorphin. Binds angiotensin IV and may be the angiotensin IV receptor in the brain. Release of an N-terminal amino acid, Cys-|- Xaa-, in which the half-cystine residue is involved in a disulfide loop, notably in oxytocin or vasopressin. Hydrolysis rates on a range of aminoacyl arylamides exceed that for the cystinyl derivative, however. Binds 1 zinc ion per subunit (By similarity). Homodimer. Binds tankyrases 1 and 2. Cell membrane; Single-pass type II membrane protein. Note=In brain only the membrane-bound form is found. The protein resides in intracellular vesicles together with GLUT4 and can then translocate to the cell surface in response to insulin and/or oxytocin. Localization may be determined by dileucine internalization motifs, and/or by interaction with tankyrases. Leucyl-cystinyl aminopeptidase, pregnancy serum form: Secreted. Note=During pregnancy serum levels are low in the first trimester, rise progressively during the second and third trimester and decrease rapidly after parturition. Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9UIQ6-1; Sequence=Displayed; Name=2; IsoId=Q9UIQ6-2; Sequence=VSP_005448; Name=3; IsoId=Q9UIQ6-3; Sequence=VSP_005449; Highly expressed in placenta, heart, kidney and small intestine. Detected at lower levels in neuronal cells in the brain, in skeletal muscle, spleen, liver, testes and colon. The pregnancy serum form is derived from the membrane-bound form by proteolytic processing. N-glycosylated. Belongs to the peptidase M1 family. Sequence=BAA09436.1; Type=Erroneous initiation; Sequence=BAD92120.1; Type=Frameshift; Positions=405; protein polyubiquitination antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent aminopeptidase activity protein binding extracellular region cytoplasm lysosomal membrane cytosol plasma membrane integral component of plasma membrane proteolysis cell-cell signaling female pregnancy peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane hydrolase activity protein catabolic process cytoplasmic vesicle membrane early endosome lumen peptide binding peptide catabolic process metal ion binding perinuclear region of cytoplasm SMAD protein signal transduction metalloaminopeptidase activity  uc003kmv.1 uc003kmv.2 uc003kmv.3 
ENST00000231383.8 RAD1P1 ENST00000231383.8 RAD1 pseudogene 1 (from HGNC RAD1P1) ENST00000231383.1 ENST00000231383.2 ENST00000231383.3 ENST00000231383.4 ENST00000231383.5 ENST00000231383.6 ENST00000231383.7 uc286gny.1  uc286gny.1 
ENST00000231420.11 AGXT2 ENST00000231420.11 Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_031900) AGT2 AGT2_HUMAN ENST00000231420.1 ENST00000231420.10 ENST00000231420.2 ENST00000231420.3 ENST00000231420.4 ENST00000231420.5 ENST00000231420.6 ENST00000231420.7 ENST00000231420.8 ENST00000231420.9 NM_031900 Q53FB4 Q53FY7 Q53G03 Q5W7Q1 Q9BYV1 uc003jjf.1 uc003jjf.2 uc003jjf.3 uc003jjf.4 uc003jjf.5 The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. L-alanine + glyoxylate = pyruvate + glycine. (R)-3-amino-2-methylpropanoate + pyruvate = 2- methyl-3-oxopropanoate + L-alanine. Pyridoxal phosphate. Homotetramer (By similarity). Mitochondrion (Potential). Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. catalytic activity mitochondrion mitochondrial matrix alanine-glyoxylate transaminase activity transaminase activity glyoxylate catabolic process transferase activity glycine biosynthetic process, by transamination of glyoxylate L-alanine catabolic process, by transamination pyridoxal phosphate binding positive regulation of nitric oxide biosynthetic process glyoxylate metabolic process (R)-3-amino-2-methylpropionate-pyruvate transaminase activity  uc003jjf.1 uc003jjf.2 uc003jjf.3 uc003jjf.4 uc003jjf.5 
ENST00000231423.7 PRLR ENST00000231423.7 This is a receptor for the anterior pituitary hormone prolactin (PRL). Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling. (from UniProt P16471) AF416619 B2R882 ENST00000231423.1 ENST00000231423.2 ENST00000231423.3 ENST00000231423.4 ENST00000231423.5 ENST00000231423.6 P16471 PRLR_HUMAN Q16354 Q8TD75 Q8TD78 Q96P35 Q96P36 Q9BX87 Q9UHJ5 uc063cxm.1 This is a receptor for the anterior pituitary hormone prolactin (PRL). Isoform 4 is unable to transduce prolactin signaling. Isoform 6 is unable to transduce prolactin signaling. Homodimer upon hormone binding. Interacts with SMARCA1. Interacts with GH1. Interacts with CSH. Interacts with NEK3 and VAV2 and this interaction is prolactin-dependent. Membrane; Single-pass type I membrane protein. Isoform 7: Secreted. Event=Alternative splicing; Named isoforms=8; Name=1; IsoId=P16471-1; Sequence=Displayed; Name=2; Synonyms=Delta-S1; IsoId=P16471-2; Sequence=VSP_001720; Name=3; IsoId=P16471-3; Sequence=VSP_012620, VSP_012621; Note=Soluble isoform that appears specific for the BT-474 breast cancer cell line; Name=4; Synonyms=SF1a, Short form 1a; IsoId=P16471-4; Sequence=VSP_026537, VSP_026539; Note=Includes exon 11. Does not transduce prolactin signaling; Name=5; Synonyms=Intermediate; IsoId=P16471-5; Sequence=VSP_026536, VSP_026538; Note=Produced by deletion of part of exon 10 and frameshift; Name=6; Synonyms=SF1b, Short form 1b; IsoId=P16471-6; Sequence=VSP_026534, VSP_026535; Note=Does not transduce prolactin signaling; Name=7; Synonyms=Delta 7/11; IsoId=P16471-7; Sequence=VSP_026532, VSP_026533; Note=Splices from exon 7 to exon 11; Name=8; Synonyms=Delta 4-SF1b; IsoId=P16471-8; Sequence=VSP_026531, VSP_026534, VSP_026535; Note=SF1b with deletion of exon 4. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed in breast, placenta, kidney, liver and pancreas. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Belongs to the type I cytokine receptor family. Type 1 subfamily. Contains 2 fibronectin type-III domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRLRID42891ch5p14.html"; cytokine receptor activity prolactin receptor activity protein binding extracellular region plasma membrane steroid biosynthetic process cell surface receptor signaling pathway activation of transmembrane receptor protein tyrosine kinase activity embryo implantation lactation external side of plasma membrane cell surface membrane integral component of membrane peptide hormone binding cytokine binding endosome lumen prolactin signaling pathway T cell activation protein homodimerization activity activation of Janus kinase activity ornithine decarboxylase activator activity negative regulation of apoptotic process receptor complex metal ion binding JAK-STAT cascade involved in growth hormone signaling pathway  uc063cxm.1 
ENST00000231449.7 IL4 ENST00000231449.7 Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA. (from RefSeq NM_000589) ENST00000231449.1 ENST00000231449.2 ENST00000231449.3 ENST00000231449.4 ENST00000231449.5 ENST00000231449.6 IL4_HUMAN NM_000589 P05112 Q14630 uc003kxk.1 uc003kxk.2 uc003kxk.3 uc003kxk.4 The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2020]. Participates in at least several B-cell activation processes as well as of other cell types. It is a costimulator of DNA-synthesis. It induces the expression of class II MHC molecules on resting B-cells. It enhances both secretion and cell surface expression of IgE and IgG1. It also regulates the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes. P78552:IL13RA1; NbExp=3; IntAct=EBI-367025, EBI-1391535; P24394:IL4R; NbExp=5; IntAct=EBI-367025, EBI-367009; Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=P05112-1; Sequence=Displayed; Name=2; Synonyms=Short, IL-4delta2; IsoId=P05112-2; Sequence=VSP_002672; Genetic variations in IL4 may be a cause of susceptibility to ischemic stroke (ISCHSTR) [MIM:601367]; also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Belongs to the IL-4/IL-13 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il4/"; cytokine activity cytokine receptor binding interleukin-4 receptor binding protein binding extracellular region extracellular space immune response growth factor activity cholesterol metabolic process positive regulation of gene expression negative regulation of epithelial cell migration positive regulation of macroautophagy cytokine-mediated signaling pathway B cell differentiation positive regulation of B cell proliferation positive regulation of interleukin-13 production T-helper 2 cell cytokine production type 2 immune response positive regulation of T cell proliferation T cell activation B cell activation regulation of phosphorylation positive regulation of tyrosine phosphorylation of STAT protein negative regulation of tumor necrosis factor biosynthetic process activation of Janus kinase activity myeloid dendritic cell differentiation negative regulation of apoptotic process connective tissue growth factor biosynthetic process regulation of isotype switching positive regulation of MHC class II biosynthetic process positive regulation of T cell differentiation negative regulation of osteoclast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of receptor-mediated endocytosis positive regulation of isotype switching to IgE isotypes positive regulation of isotype switching to IgG isotypes regulation of immune response dendritic cell differentiation positive regulation of beta-amyloid clearance positive regulation of cellular respiration negative regulation of complement-dependent cytotoxicity negative regulation of endothelial cell apoptotic process positive regulation of ATP biosynthetic process  uc003kxk.1 uc003kxk.2 uc003kxk.3 uc003kxk.4 
ENST00000231454.6 IL5 ENST00000231454.6 Homo sapiens interleukin 5 (IL5), mRNA. (from RefSeq NM_000879) ENST00000231454.1 ENST00000231454.2 ENST00000231454.3 ENST00000231454.4 ENST00000231454.5 IL5_HUMAN NM_000879 P05113 Q13840 uc003kxe.1 uc003kxe.2 This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X04688.1, X12705.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231454.6/ ENSP00000231454.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Factor that induces terminal differentiation of late- developing B-cells to immunoglobulin secreting cells. Homodimer; disulfide-linked. P32927:CSF2RB; NbExp=2; IntAct=EBI-2435811, EBI-1809771; Q01344:IL5RA; NbExp=2; IntAct=EBI-2435811, EBI-1759442; Secreted. Belongs to the IL-5 family. Name=R&D Systems' cytokine mini-reviews: IL-5; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1646"; Name=Wikipedia; Note=Interleukin-5 entry; URL="http://en.wikipedia.org/wiki/Interleukin_5"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il5/"; MAPK cascade cytokine activity interleukin-5 receptor binding protein binding extracellular region extracellular space inflammatory response immune response growth factor activity positive regulation of cell proliferation cytokine-mediated signaling pathway positive regulation of B cell proliferation positive regulation of eosinophil differentiation positive regulation of transcription, DNA-templated positive regulation of JAK-STAT cascade positive regulation of peptidyl-tyrosine phosphorylation positive regulation of immunoglobulin secretion positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of podosome assembly  uc003kxe.1 uc003kxe.2 
ENST00000231461.10 ST8SIA4 ENST00000231461.10 Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. (from RefSeq NM_005668) A8KA07 ENST00000231461.1 ENST00000231461.2 ENST00000231461.3 ENST00000231461.4 ENST00000231461.5 ENST00000231461.6 ENST00000231461.7 ENST00000231461.8 ENST00000231461.9 NM_005668 PST PST1 Q92187 Q92693 SIA8D_HUMAN SIAT8D uc003knk.1 uc003knk.2 uc003knk.3 uc003knk.4 uc003knk.5 uc003knk.6 The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid (PSA), which is present on the embryonic neural cell adhesion molecule (N-CAM), necessary for plasticity of neural cells. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Potential). Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes. Belongs to the glycosyltransferase 29 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST8SIA4"; Name=Functional Glycomics Gateway - GTase; Note=ST8Sia IV; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_639"; Golgi membrane ganglioside biosynthetic process alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity Golgi apparatus cellular protein modification process protein glycosylation N-glycan processing nervous system development sialyltransferase activity oligosaccharide metabolic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups sialic acid binding sialylation  uc003knk.1 uc003knk.2 uc003knk.3 uc003knk.4 uc003knk.5 uc003knk.6 
ENST00000231484.4 PCDH12 ENST00000231484.4 Homo sapiens protocadherin 12 (PCDH12), mRNA. (from RefSeq NM_016580) ENST00000231484.1 ENST00000231484.2 ENST00000231484.3 NM_016580 PCD12_HUMAN Q6UXB6 Q96KB8 Q9H7Y6 Q9H8E0 Q9NPG4 UNQ395/PRO731 uc003llx.1 uc003llx.2 uc003llx.3 uc003llx.4 uc003llx.5 This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF240635.1, AF231025.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions. Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions. Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity). Cell membrane; Single-pass type I membrane protein. Cell junction. Expressed in highly vascularized tissues including the heart and placenta, but most tissues contain a low level of expression. Prominent expression in the spleen. Contains 6 cadherin domains. calcium ion binding extracellular region plasma membrane integral component of plasma membrane cell-cell junction glycogen metabolic process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules neuron recognition membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules cell junction labyrinthine layer development extracellular exosome  uc003llx.1 uc003llx.2 uc003llx.3 uc003llx.4 uc003llx.5 
ENST00000231498.8 NUP155 ENST00000231498.8 Homo sapiens nucleoporin 155 (NUP155), transcript variant 1, mRNA. (from RefSeq NM_153485) ENST00000231498.1 ENST00000231498.2 ENST00000231498.3 ENST00000231498.4 ENST00000231498.5 ENST00000231498.6 ENST00000231498.7 KIAA0791 NM_153485 NU155_HUMAN O75694 Q9UBE9 Q9UFL5 uc003jku.1 uc003jku.2 uc003jku.3 uc003jku.4 Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]. Essential component of nuclear pore complex. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport (By similarity). Interacts with GLE1. Able to form a heterotrimer with GLE1 and NUPL2 in vitro. Forms a complex with NUP53, NUP93, NUP205 and lamin B. Nucleus, nuclear pore complex (By similarity). Nucleus membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Nucleus membrane; Peripheral membrane protein; Nucleoplasmic side (By similarity). Note=In mitosis, assumes a diffuse cytoplasmic distribution probably as a monomer, before reversing back into a punctate nuclear surface localization at the end of mitosis (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75694-1; Sequence=Displayed; Name=2; IsoId=O75694-2; Sequence=VSP_014437; Note=No experimental confirmation available; Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Phosphorylated. Phosphorylation and dephosphorylation may be important for the function of NUP155 and may play a role in the reversible disassembly of the nuclear pore complex during mitosis (By similarity). Belongs to the non-repetitive/WGA-negative nucleoporin family. Sequence=AAD52966.1; Type=Erroneous gene model prediction; Sequence=BAA34511.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery protein binding nucleus nuclear envelope nuclear pore regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein import into nucleus nucleocytoplasmic transport nuclear envelope organization protein transport membrane viral process protein sumoylation structural constituent of nuclear pore viral transcription nuclear membrane protein targeting to nuclear inner membrane host cell nuclear pore inner ring mRNA transport regulation of gene silencing by miRNA intracellular transport of virus atrial cardiac muscle cell action potential regulation of cellular response to heat  uc003jku.1 uc003jku.2 uc003jku.3 uc003jku.4 
ENST00000231504.5 PPP2CA ENST00000231504.5 protein phosphatase 2 catalytic subunit alpha (from HGNC PPP2CA) AK097599 ENST00000231504.1 ENST00000231504.2 ENST00000231504.3 ENST00000231504.4 uc063har.1  uc063har.1 
ENST00000231509.7 NR3C1 ENST00000231509.7 Homo sapiens nuclear receptor subfamily 3 group C member 1 (NR3C1), transcript variant 14, mRNA. (from RefSeq NM_001364185) A0ZXF9 B0LPG8 D3DQF4 ENST00000231509.1 ENST00000231509.2 ENST00000231509.3 ENST00000231509.4 ENST00000231509.5 ENST00000231509.6 GCR_HUMAN GRL NM_001364185 P04150 P04151 Q53EP5 Q6N0A4 uc003lmy.1 uc003lmy.2 uc003lmy.3 uc003lmy.4 This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.98095.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Receptor for glucocorticoids (GC). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE) and as a modulator of other transcription factors. Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth. Involved in chromatin remodeling. Plays a significant role in transactivation. Involved in nuclear translocation (By similarity). Heteromultimeric cytoplasmic complex with HSP90, HSP70, and FKBP5 or another immunophilin, or the immunophilin homolog PPP5C. Directly interacts with UNC45A. Upon ligand binding FKBP5 dissociates from the complex and FKBP4 takes its place, thereby linking the complex to dynein and mediating transport to the nucleus, where the complex dissociates (By similarity). Binds to DNA as a homodimer, and as a heterodimer with NR3C2 or the retinoid X receptor. Binds STAT5A and STAT5B homodimers and heterodimers. Interacts with NRIP1, POU2F1, POU2F2 and TRIM28. Interacts with NCOA1, NCOA3, SMARCA4, SMARCC1, SMARCD1, and SMARCE1 (By similarity). Interacts with several coactivator complexes, including the SMARCA4 complex, CREBBP/EP300, TADA2L and p160 coactivators such as NCOA2 and NCOA6. Interaction with BAG1 inhibits transactivation. Interacts with HEXIM1, PELP1 and TGFB1I1. P59598:Asxl1 (xeno); NbExp=2; IntAct=EBI-493507, EBI-5743705; Q6ZU52:KIAA0408; NbExp=2; IntAct=EBI-493507, EBI-739493; Q62667:Mvp (xeno); NbExp=2; IntAct=EBI-493507, EBI-918333; P82094:TMF1; NbExp=3; IntAct=EBI-493507, EBI-949763; Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand, nuclear after ligand-binding. Isoform Beta: Nucleus. Note=Localized largely in the nucleus. Event=Alternative splicing, Alternative initiation; Named isoforms=10; Comment=At least 4 isoforms, Alpha (shown here), Alpha-B, Beta and Beta-B, are produced by alternative initiation at Met-1 and Met-27. The existence of isoform Alpha and isoform Alpha-B has been proved by mutagenesis. As the sequence environment of the 2 potential ATG initiator codons is the same for the other altrnatively spliced isoforms, alternative initiation of translation could also occur on these transcripts. Additional isoforms seem to exist; Name=Alpha; Synonyms=Alpha-A; IsoId=P04150-1; Sequence=Displayed; Note=Predominant physiological form. Isoform Alpha-B is produced by alternative initiation at Met-27 of isoform Alpha. Both isoforms exhibit similar subcellular location and nuclear translocation after ligand activation. Isoform Alpha-B appears to be more susceptible to degradation, at least when expressed in mammalian cells, but more effective in transcriptional activation and not in transrepression; Name=Beta; Synonyms=Beta-A; IsoId=P04150-2; Sequence=VSP_003703; Note=No hormone-binding activity. Widely expressed at low level; Name=Alpha-2; Synonyms=Gamma; IsoId=P04150-3; Sequence=VSP_007363; Note=Due to a partial intron retention. Lower transcriptional activity. Expressed at low level; Name=Beta-2; IsoId=P04150-6; Sequence=VSP_007363, VSP_003703; Note=Due to a partial intron retention; Name=GR-A alpha; IsoId=P04150-5; Sequence=VSP_013340; Note=Lacks exons 5, 6 and 7. Found in glucocorticoid-resistant myeloma patients; Name=GR-A beta; IsoId=P04150-7; Sequence=VSP_013340, VSP_003703; Note=Lacks exons 5, 6 and 7; Name=GR-P; IsoId=P04150-4; Sequence=Not described; Note=Encoded by exons 2-7 plus several basepairs from the subsequent intron region. Lacks the ligand binding domain. Accounts for up to 10-20% of mRNAs; Name=Alpha-B; Synonyms=Beta-B; IsoId=P04150-8; Sequence=VSP_018773; Note=Produced by alternative initiation at Met-27 of isoform Alpha. Both isoforms exhibit similar subcellular location and nuclear translocation after ligand activation. Isoform Alpha-B appears to be more susceptible to degradation, at least when expressed in mammalian cells, but more effective in transcriptional activation and not in transrepression; Name=Beta-B; IsoId=P04150-9; Sequence=VSP_018773, VSP_003703; Note=Produced by alternative initiation at Met-27 of isoform Beta; Name=10; Synonyms=hGRDelta313-338; IsoId=P04150-10; Sequence=VSP_043908; Widely expressed. In the heart, detected in left and right atria, left and right ventricles, aorta, apex, intraventricular septum, and atrioventricular node as well as whole adult and fetal heart. Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. Increased proteasome-mediated degradation in response to glucocorticoids. Phosphorylated in the absence of hormone; becomes hyperphosphorylated in the presence of glucocorticoid. The Ser- 203-phosphorylated form is mainly cytoplasmic, and the Ser-211- phosphorylated form is nuclear. Transcriptional activity correlates with the amount of phosphorylation at Ser-211. Sumoylated; this reduces transcription transactivation. Ubiquitinated; restricts glucocorticoid-mediated transcriptional signaling (By similarity). Carriers of the 22-Glu-Lys-23 allele are relatively more resistant to the effects of GCs with respect to the sensitivity of the adrenal feedback mechanism than non-carriers, resulting in a better metabolic health profile. Carriers have a better survival than non-carriers, as well as lower serum CRP levels. The 22-Glu-Lys-23 polymorphism is associated with a sex- specific, beneficial body composition at young-adult age, as well as greater muscle strength in males. Defects in NR3C1 are a cause of glucocorticoid resistance (GCRES) [MIM:138040]; also known as cortisol resistance. It is a hypertensive, hyperandrogenic disorder characterized by increased serum cortisol concentrations. Inheritance is autosomal dominant. High constitutive expression of isoform beta by neutrophils may provide a mechanism by which these cells escape glucocorticoid-induced cell death. Up-regulation by proinflammatory cytokines such as IL8 further enhances their survival in the presence of glucocorticoids during inflammation. Can up- or down-modulate aggregation and nuclear localization of expanded polyglutamine polypeptides derived from AR and HD through specific regulation of gene expression. Aggregation and nuclear localization of expanded polyglutamine proteins are regulated cellular processes that can be modulated by this receptor, a well-characterized transcriptional regulator. Belongs to the nuclear hormone receptor family. NR3 subfamily. Contains 1 nuclear receptor DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR3C1"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nr3c1/"; Name=Wikipedia; Note=Glucocorticoid receptor entry; URL="http://en.wikipedia.org/wiki/Glucocorticoid_receptor"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding glucocorticoid receptor activity steroid binding protein binding nucleus nucleoplasm cytoplasm mitochondrion mitochondrial matrix microtubule organizing center spindle cytosol cytoskeleton chromatin organization transcription, DNA-templated regulation of transcription, DNA-templated transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter apoptotic process cell cycle chromosome segregation signal transduction zinc ion binding lipid binding nuclear speck protein kinase binding SUMO binding macromolecular complex glucocorticoid receptor signaling pathway glucocorticoid mediated signaling pathway sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter metal ion binding cell division Hsp90 protein binding cellular response to steroid hormone stimulus cellular response to glucocorticoid stimulus cellular response to dexamethasone stimulus cellular response to transforming growth factor beta stimulus positive regulation of pri-miRNA transcription from RNA polymerase II promoter steroid hormone binding  uc003lmy.1 uc003lmy.2 uc003lmy.3 uc003lmy.4 
ENST00000231512.5 C5orf15 ENST00000231512.5 Homo sapiens chromosome 5 open reading frame 15 (C5orf15), mRNA. (from RefSeq NM_020199) B2RD10 D3DQ92 ENST00000231512.1 ENST00000231512.2 ENST00000231512.3 ENST00000231512.4 HTGN29 KCT2 KCT2_HUMAN NM_020199 Q8NC54 Q9NRG2 uc003kyo.1 uc003kyo.2 uc003kyo.3 uc003kyo.4 uc003kyo.5 Membrane; Single-pass type I membrane protein (Potential). Widely expressed. membrane integral component of membrane  uc003kyo.1 uc003kyo.2 uc003kyo.3 uc003kyo.4 uc003kyo.5 
ENST00000231524.14 TRIM23 ENST00000231524.14 Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA. (from RefSeq NM_001656) ARD1 ARFD1 ENST00000231524.1 ENST00000231524.10 ENST00000231524.11 ENST00000231524.12 ENST00000231524.13 ENST00000231524.2 ENST00000231524.3 ENST00000231524.4 ENST00000231524.5 ENST00000231524.6 ENST00000231524.7 ENST00000231524.8 ENST00000231524.9 NM_001656 P36406 Q9BZY4 Q9BZY5 RNF46 TRI23_HUMAN uc003jty.1 uc003jty.2 uc003jty.3 uc003jty.4 uc003jty.5 The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]. Acts as an E3 ubiquitin-protein ligase. In the presence of the human cytomegalovirus (HCMV) protein UL144, participates in 'Lys-63'-linked auto-ubiquitination of TRAF6 resulting in the virally controlled activation of NF-kappa-B at early time of infection. The C-terminus can act as an allosteric activator of the cholera toxin catalytic subunit. Protein modification; protein ubiquitination. Interacts with PSCD1. Interacts with human cytomegalovirus protein UL144; this interaction might causes auto- ubiquitination of TRAF6, leading to NF-kappaB activation. Self; NbExp=3; IntAct=EBI-740098, EBI-740098; P55040:GEM; NbExp=3; IntAct=EBI-740098, EBI-744104; Endomembrane system. Golgi apparatus membrane. Lysosome membrane. Note=Membrane-associated with the Golgi complex and lysosomal structures. Event=Alternative splicing; Named isoforms=3; Name=Alpha; IsoId=P36406-1; Sequence=Displayed; Name=Beta; IsoId=P36406-2; Sequence=VSP_000296; Name=Gamma; IsoId=P36406-3; Sequence=VSP_000297; The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity. In the C-terminal section; belongs to the small GTPase superfamily. Arf family. Contains 1 B box-type zinc finger. Contains 1 RING-type zinc finger. Golgi membrane nucleotide binding immune system process nucleic acid binding GTPase activity ubiquitin-protein transferase activity protein binding GTP binding nucleus cytoplasm lysosome lysosomal membrane Golgi apparatus plasma membrane intracellular protein transport enzyme activator activity zinc ion binding endomembrane system membrane viral process vesicle-mediated transport protein ubiquitination transferase activity GDP binding identical protein binding positive regulation of catalytic activity innate immune response metal ion binding  uc003jty.1 uc003jty.2 uc003jty.3 uc003jty.4 uc003jty.5 
ENST00000231526.8 TRAPPC13 ENST00000231526.8 Homo sapiens trafficking protein particle complex 13 (TRAPPC13), transcript variant 7, mRNA. (from RefSeq NM_001365343) A5PLN9 C5orf44 CE044_HUMAN ENST00000231526.1 ENST00000231526.2 ENST00000231526.3 ENST00000231526.4 ENST00000231526.5 ENST00000231526.6 ENST00000231526.7 NM_001365343 Q17RZ9 Q49A23 Q4JHG0 Q6MZG4 Q8TCM2 Q9H8I3 uc003juc.1 uc003juc.2 uc003juc.3 uc003juc.4 uc003juc.5 Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=A5PLN9-1; Sequence=Displayed; Name=2; IsoId=A5PLN9-2; Sequence=VSP_038356; Name=3; IsoId=A5PLN9-4; Sequence=VSP_038356, VSP_038359; Name=4; IsoId=A5PLN9-5; Sequence=VSP_038359; Name=5; IsoId=A5PLN9-7; Sequence=VSP_038356, VSP_038357, VSP_038358; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Belongs to the UPF0533 family. Sequence=AAH47475.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS; Sequence=BAB14633.1; Type=Erroneous termination; Positions=63; Note=Translated as Glu; protein binding cytosol  uc003juc.1 uc003juc.2 uc003juc.3 uc003juc.4 uc003juc.5 
ENST00000231572.8 RARS1 ENST00000231572.8 Homo sapiens arginyl-tRNA synthetase 1 (RARS1), mRNA. (from RefSeq NM_002887) B2RBS9 ENST00000231572.1 ENST00000231572.2 ENST00000231572.3 ENST00000231572.4 ENST00000231572.5 ENST00000231572.6 ENST00000231572.7 NM_002887 P54136 Q53GY4 Q9BWA1 RARS SYRC_HUMAN uc003lzx.1 uc003lzx.2 uc003lzx.3 uc003lzx.4 uc003lzx.5 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1146952.1, SRR1803616.190698.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231572.8/ ENSP00000231572.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis. Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1. ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl-tRNA(Arg). Kinetic parameters: KM=3.9 uM for arginine (ATP-PPi exchange at 37 degrees Celsius); KM=3.5 uM for arginine (arginylation at 37 degrees Celsius); KM=1183 uM for ATP (ATP-PPi exchange at 37 Celsius); KM=910 uM for ATP (arginylation at 37 Celsius); KM=0.05 uM for calf liver tRNA-Arg (ATP-PPi exchange at 37 Celsius); KM=0.41 uM for calf liver tRNA-Arg (arginylation at 37 Celsius); Interacts (via N-terminus) with AIMP1 (via N-terminus); this stimulates its catalytic activity. Interacts (via N-terminus) with LARS2 (via C-terminus). Monomer; also part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Q9P2J5:LARS; NbExp=3; IntAct=EBI-355482, EBI-356077; Cytoplasm. Event=Alternative initiation; Named isoforms=2; Name=Complexed; IsoId=P54136-1; Sequence=Displayed; Name=Monomeric; IsoId=P54136-2; Sequence=VSP_018905; The N-terminus (AA 1-72) has two regions predicted to be alpha-helical that might be involved in the multisynthetase complex assembly. Belongs to the class-I aminoacyl-tRNA synthetase family. tRNA binding nucleotide binding aminoacyl-tRNA ligase activity arginine-tRNA ligase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol translation tRNA aminoacylation for protein translation arginyl-tRNA aminoacylation membrane ligase activity aminoacyl-tRNA synthetase multienzyme complex arginine binding cadherin binding extracellular exosome  uc003lzx.1 uc003lzx.2 uc003lzx.3 uc003lzx.4 uc003lzx.5 
ENST00000231656.13 CDX1 ENST00000231656.13 Homo sapiens caudal type homeobox 1 (CDX1), mRNA. (from RefSeq NM_001804) CDX1_HUMAN ENST00000231656.1 ENST00000231656.10 ENST00000231656.11 ENST00000231656.12 ENST00000231656.2 ENST00000231656.3 ENST00000231656.4 ENST00000231656.5 ENST00000231656.6 ENST00000231656.7 ENST00000231656.8 ENST00000231656.9 NM_001804 P47902 Q4VAU4 Q9NYK8 uc003lrq.1 uc003lrq.2 uc003lrq.3 uc003lrq.4 uc003lrq.5 This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded DNA-binding protein regulates intestine-specific gene expression and enterocyte differentiation. It has been shown to induce expression of the intestinal alkaline phosphatase gene, and inhibit beta-catenin/T-cell factor transcriptional activity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U51095.1, U15212.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231656.13/ ENSP00000231656.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Could play a role in the terminal differentiation of the intestine. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P47902-1; Sequence=Displayed; Name=2; IsoId=P47902-2; Sequence=VSP_021030; Intestinal epithelium. Belongs to the Caudal homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development pattern specification process methyl-CpG binding animal organ morphogenesis anterior/posterior axis specification anterior/posterior pattern specification regulation of somitogenesis cell differentiation sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter bone morphogenesis  uc003lrq.1 uc003lrq.2 uc003lrq.3 uc003lrq.4 uc003lrq.5 
ENST00000231668.13 BNIP1 ENST00000231668.13 Homo sapiens BCL2 interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA. (from RefSeq NM_013979) D3DQM3 D3DQM4 D3DQM5 D3DQM6 ENST00000231668.1 ENST00000231668.10 ENST00000231668.11 ENST00000231668.12 ENST00000231668.2 ENST00000231668.3 ENST00000231668.4 ENST00000231668.5 ENST00000231668.6 ENST00000231668.7 ENST00000231668.8 ENST00000231668.9 NIP1 NM_013979 O75622 O75623 O75624 Q12981 Q6K044 Q96FG4 SEC20L SEC20_HUMAN TRG8 uc003mci.1 uc003mci.2 uc003mci.3 uc003mci.4 uc003mci.5 This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]. SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER. Required for maintenance of ER network. Implicated in the suppression of cell death. May be involved in mitochondrial autophagy. Component of a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L and SEC22B. Interacts directly with STX18, RINT1/TIP20L and NAPA. Interacts with ZW10 through RINT1. Interacts with BCL2 and adenovirus E1B 19 kDa protein. Mitochondrion. Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist; Name=1; Synonyms=BNIP1, S4; IsoId=Q12981-4; Sequence=Displayed; Name=2; Synonyms=BNIP1-a, S1; IsoId=Q12981-2; Sequence=VSP_004330; Name=3; Synonyms=BNIP1-b, S2; IsoId=Q12981-1; Sequence=VSP_017901; Name=4; Synonyms=BNIP1-c, S3; IsoId=Q12981-3; Sequence=VSP_017901, VSP_004330; Isoform 1 is highly expressed in heart, brain, liver skeletal muscle and pancreas. Isoform 3 is moderately expressed in placenta, lung and kidney. Isoform 4 is highly expressed in testis and small intestine. 'Lys-63'-linked polyubiquitination by RNF185 allows recruiting of autophagy receptor SQSTM1, which simultaneously binds both ubiquitin and LC3 to link ubiquitination and autophagy. Silencing of BNIP1 disrupts ER morphology. Belongs to the SEC20 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bnip1/"; SNAP receptor activity protein binding nuclear envelope cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane retrograde vesicle-mediated transport, Golgi to ER apoptotic process endoplasmic reticulum organization membrane integral component of membrane vesicle-mediated transport endoplasmic reticulum membrane fusion integral component of endoplasmic reticulum membrane SNARE complex mitochondrial membrane negative regulation of apoptotic process intracellular membrane-bounded organelle execution phase of apoptosis  uc003mci.1 uc003mci.2 uc003mci.3 uc003mci.4 uc003mci.5 
ENST00000231706.6 SLC7A14 ENST00000231706.6 Homo sapiens solute carrier family 7 member 14 (SLC7A14), mRNA. (from RefSeq NM_020949) B3KV33 ENST00000231706.1 ENST00000231706.2 ENST00000231706.3 ENST00000231706.4 ENST00000231706.5 KIAA1613 NM_020949 Q8TBB6 Q9HCF9 S7A14_HUMAN uc003fgz.1 uc003fgz.2 uc003fgz.3 uc003fgz.4 This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.185681.1, SRR1660805.215668.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231706.6/ ENSP00000231706.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein (Potential). Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family. Sequence=BAB13439.1; Type=Erroneous termination; Positions=765; Note=Translated as Glu; lysosome lysosomal membrane amino acid transport negative regulation of phosphatase activity membrane integral component of membrane transmembrane transporter activity transmembrane transport  uc003fgz.1 uc003fgz.2 uc003fgz.3 uc003fgz.4 
ENST00000231721.7 SEMA3G ENST00000231721.7 Homo sapiens semaphorin 3G (SEMA3G), mRNA. (from RefSeq NM_020163) ENST00000231721.1 ENST00000231721.2 ENST00000231721.3 ENST00000231721.4 ENST00000231721.5 ENST00000231721.6 NM_020163 Q7L9D9 Q9H7Q3 Q9NS98 SEM3G_HUMAN uc003dea.1 uc003dea.2 uc003dea.3 The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]. ##Evidence-Data-START## Transcript exon combination :: AB029496.1, SRR1803615.101779.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000231721.7/ ENSP00000231721.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Has chemorepulsive activities for sympathetic axons. Ligand of NRP2 (By similarity). Secreted (By similarity). Belongs to the semaphorin family. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 Sema domain. neural crest cell migration receptor binding extracellular region extracellular space integral component of plasma membrane semaphorin receptor binding positive regulation of cell migration negative regulation of axon extension chemorepellent activity negative regulation of axon extension involved in axon guidance negative chemotaxis extracellular exosome semaphorin-plexin signaling pathway  uc003dea.1 uc003dea.2 uc003dea.3 
ENST00000231749.8 ZMYND10 ENST00000231749.8 Homo sapiens zinc finger MYND-type containing 10 (ZMYND10), transcript variant 1, mRNA. (from RefSeq NM_015896) A6NK41 BLU ENST00000231749.1 ENST00000231749.2 ENST00000231749.3 ENST00000231749.4 ENST00000231749.5 ENST00000231749.6 ENST00000231749.7 LUCA12.4 NM_015896 O14570 O75800 O75801 Q8N4R6 Q8NDN6 ZMY10_HUMAN uc003dag.1 uc003dag.2 uc003dag.3 This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. Q9Y3Q8:TSC22D4; NbExp=2; IntAct=EBI-747061, EBI-739485; Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Lung; IsoId=O75800-1; Sequence=Displayed; Name=2; Synonyms=Testis; IsoId=O75800-2; Sequence=VSP_003328; Contains 1 MYND-type zinc finger. Sequence=AAB67311.1; Type=Erroneous gene model prediction; protein binding cytoplasm microtubule organizing center cytoskeleton plasma membrane membrane apical plasma membrane centriolar satellite outer dynein arm assembly inner dynein arm assembly motile cilium assembly metal ion binding positive regulation of motile cilium assembly  uc003dag.1 uc003dag.2 uc003dag.3 
ENST00000231751.9 LTF ENST00000231751.9 Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. (from RefSeq NM_002343) ENST00000231751.1 ENST00000231751.2 ENST00000231751.3 ENST00000231751.4 ENST00000231751.5 ENST00000231751.6 ENST00000231751.7 ENST00000231751.8 NM_002343 V9HWI4 uc003cpq.1 uc003cpq.2 uc003cpq.3 uc003cpq.4 uc003cpq.5 uc003cpq.6 This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014].  uc003cpq.1 uc003cpq.2 uc003cpq.3 uc003cpq.4 uc003cpq.5 uc003cpq.6 
ENST00000231790.8 MLH1 ENST00000231790.8 Homo sapiens mutL homolog 1 (MLH1), transcript variant 22, mRNA. (from RefSeq NM_001354629) COCA2 ENST00000231790.1 ENST00000231790.2 ENST00000231790.3 ENST00000231790.4 ENST00000231790.5 ENST00000231790.6 ENST00000231790.7 MLH1_HUMAN NM_001354629 P40692 uc003cgl.1 uc003cgl.2 uc003cgl.3 uc003cgl.4 uc003cgl.5 The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.84441.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis. Heterodimer of MLH1 and PMS2 (MutL alpha), MLH1 and PMS1 (MutL beta) or MLH1 and MLH3 (MutL gamma). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50- MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MBD4. Interacts with EXO1 and MTMR15/FAN1. P63261:ACTG1; NbExp=7; IntAct=EBI-744248, EBI-351292; P07355:ANXA2; NbExp=7; IntAct=EBI-744248, EBI-352622; P07858:CTSB; NbExp=7; IntAct=EBI-744248, EBI-715062; P17661:DES; NbExp=7; IntAct=EBI-744248, EBI-1055572; Q16658:FSCN1; NbExp=7; IntAct=EBI-744248, EBI-351076; Q969T7:NT5C3L; NbExp=3; IntAct=EBI-744248, EBI-2932564; P54278:PMS2; NbExp=3; IntAct=EBI-744248, EBI-1162561; Q13813:SPTAN1; NbExp=7; IntAct=EBI-744248, EBI-351450; P62328:TMSB4X; NbExp=16; IntAct=EBI-744248, EBI-712598; O75152:ZC3H11A; NbExp=3; IntAct=EBI-744248, EBI-748480; Nucleus. Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart. Defects in MLH1 are the cause of hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. Defects in MLH1 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Defects in MLH1 are a cause of Muir-Torre syndrome (MRTES) [MIM:158320]. Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. Note=Defects in MLH1 may contribute to lobular carcinoma in situ (LCIS), a non-invasive neoplastic disease of the breast. Defects in MLH1 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]. Note=Some epigenetic changes can be transmitted unchanged through the germline (termed 'epigenetic inheritance'). Evidence that this mechanism occurs in humans is provided by the identification of individuals in whom 1 allele of the MLH1 gene is epigenetically silenced throughout the soma (implying a germline event). These individuals are affected by HNPCC but does not have identifiable mutations in MLH1, even though it is silenced, which demonstrates that an epimutation can phenocopy a genetic disease. Belongs to the DNA mismatch repair MutL/HexB family. Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MLH1ID149ch3p21.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLH1"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mlh1/"; nucleotide binding nuclear-transcribed mRNA poly(A) tail shortening resolution of meiotic recombination intermediates condensed chromosome condensed nuclear chromosome synaptonemal complex male germ cell nucleus somatic recombination of immunoglobulin genes involved in immune response chromatin binding protein binding ATP binding nucleus nucleoplasm chromosome chiasma late recombination nodule DNA repair mismatch repair double-strand break repair via nonhomologous end joining cellular response to DNA damage stimulus cell cycle male meiosis chromosome segregation synapsis reciprocal meiotic recombination male meiosis spermatogenesis intrinsic apoptotic signaling pathway in response to DNA damage response to bacterium membrane female meiosis chromosome segregation somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments ATPase activity enzyme binding mismatched DNA binding guanine/thymine mispair binding mismatch repair complex MutLalpha complex meiotic metaphase I plate congression meiotic chromosome segregation meiotic telomere clustering homologous chromosome segregation isotype switching negative regulation of mitotic recombination positive regulation of isotype switching to IgA isotypes positive regulation of isotype switching to IgG isotypes oogenesis meiotic spindle midzone assembly meiotic cell cycle single-stranded DNA binding MutSalpha complex binding  uc003cgl.1 uc003cgl.2 uc003cgl.3 uc003cgl.4 uc003cgl.5 
ENST00000231887.8 EHHADH ENST00000231887.8 Homo sapiens enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. (from RefSeq NM_001966) A8K6Y3 B4DWG3 D3DNU0 ECHD ECHP_HUMAN ENST00000231887.1 ENST00000231887.2 ENST00000231887.3 ENST00000231887.4 ENST00000231887.5 ENST00000231887.6 ENST00000231887.7 NM_001966 Q08426 Q58EZ5 uc003fpf.1 uc003fpf.2 uc003fpf.3 uc003fpf.4 The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]. (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O. (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl- CoA. (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH. Enzyme activity enhanced by acetylation. Lipid metabolism; fatty acid beta-oxidation. Monomer. Peroxisome. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q08426-1; Sequence=Displayed; Name=2; IsoId=Q08426-2; Sequence=VSP_042811; Liver and kidney. Lower amounts seen in the brain. Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids. Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. In the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family. catalytic activity 3-hydroxyacyl-CoA dehydrogenase activity dodecenoyl-CoA delta-isomerase activity enoyl-CoA hydratase activity protein binding peroxisome peroxisomal matrix cytosol internal protein amino acid acetylation protein targeting to peroxisome lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation metabolic process oxidoreductase activity long-chain-enoyl-CoA hydratase activity lyase activity isomerase activity enzyme binding fatty acid beta-oxidation using acyl-CoA oxidase oxidation-reduction process  uc003fpf.1 uc003fpf.2 uc003fpf.3 uc003fpf.4 
ENST00000231948.9 CRBN ENST00000231948.9 Homo sapiens cereblon (CRBN), transcript variant 1, mRNA. (from RefSeq NM_016302) AD-006 B2R6H4 C9IZA9 C9JAH6 CRBN_HUMAN ENST00000231948.1 ENST00000231948.2 ENST00000231948.3 ENST00000231948.4 ENST00000231948.5 ENST00000231948.6 ENST00000231948.7 ENST00000231948.8 NM_016302 Q6AI62 Q6NVZ0 Q96SW2 Q9UHW4 uc003bpq.1 uc003bpq.2 uc003bpq.3 uc003bpq.4 uc003bpq.5 This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]. Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins and is required for limb outgrowth and expression of the fibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory and learning via its interaction with KCNT1. Protein modification; protein ubiquitination. Interacts with KCNT1 (By similarity). Component of a DCX (DDB1-CUL4-X-box) protein ligase complex, at least composed of CRBN, CUL4A, DDB1 and RBX1. Cytoplasm. Nucleus. Membrane; Peripheral membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96SW2-1; Sequence=Displayed; Name=2; IsoId=Q96SW2-2; Sequence=VSP_015209; Note=No experimental confirmation available; Widely expressed. Highly expressed in brain. Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex. Defects in CRBN are the cause of mental retardation autosomal recessive type 2A (MRT2A) [MIM:607417]. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features. Non-syndromic mental retardation patients do not manifest other clinical signs. Specifically binds thalidomide, a drug widely prescribed to pregnant women in the late 1950s. Thalidomide was sold as a sedative but was found to be teratogenic, causing multiple birth defects. Recently, thalidomide use has increased for the treatment of multiple myeloma and erythema nodosum leprosum, a painful complication of leprosy. Thalidomide teratogenic activity may be a consequence of CRBN-binding, which inhibits the ubiquitin ligase activity of the DCX (DDB1-CUL4-X- box) protein ligase complex, possibly leading to abnormal regulation of the BMP and FGF8 signaling pathways (PubMed:20223979). Belongs to the CRBN family. Contains 1 Lon domain. Although it contains a Lon domain also found in proteases of the peptidase S16 family, it does not contain the ATP-binding and catalytic domains, suggesting that it has no protease activity. Sequence=AAF17211.1; Type=Frameshift; Positions=347, 397, 401; Sequence=BAG35471.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG35471.1; Type=Frameshift; Positions=347; Name=Protein Spotlight; Note=A short story - Issue 117 of May 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt117.shtml"; protein binding nucleus nucleolus cytoplasm membrane protein ubiquitination Cul4A-RING E3 ubiquitin ligase complex negative regulation of protein homooligomerization negative regulation of ion transmembrane transport proteasome-mediated ubiquitin-dependent protein catabolic process metal ion binding positive regulation of protein homodimerization activity  uc003bpq.1 uc003bpq.2 uc003bpq.3 uc003bpq.4 uc003bpq.5 
ENST00000232003.5 HRG ENST00000232003.5 Homo sapiens histidine rich glycoprotein (HRG), mRNA. (from RefSeq NM_000412) B9EK35 D3DNU7 ENST00000232003.1 ENST00000232003.2 ENST00000232003.3 ENST00000232003.4 HRG_HUMAN NM_000412 P04196 uc003fqq.1 uc003fqq.2 uc003fqq.3 uc003fqq.4 uc003fqq.5 uc003fqq.6 This histidine-rich glycoprotein contains two cystatin-like domains and is located in plasma and platelets. The physiological function has not been determined but it is known that the protein binds heme, dyes and divalent metal ions. The encoded protein also has a peptide that displays antimicrobial activity against C. albicans, E. coli, S. aureus, P. aeruginosa, and E. faecalis. It can inhibit rosette formation and interacts with heparin, thrombospondin and plasminogen. Two of the protein's effects, the inhibition of fibrinolysis and the reduction of inhibition of coagulation, indicate a potential prothrombotic effect. Mutations in this gene lead to thrombophilia due to abnormal histidine-rich glycoprotein levels. [provided by RefSeq, Nov 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M13149.1, BC150591.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232003.5/ ENSP00000232003.4 Protein has antimicrobial activity :: PMID: 17229145, 18797515 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such as immune complex and pathogen clearance, cell chemotaxis, cell adhesion, angiogenesis, coagulation and fibrinolysis. Mediates clearance of necrotic cells through enhancing the phagocytosis of necrotic cells in an heparan sulfate-dependent pathway. This process can be regulated by the presence of certain HRG ligands such as heparin and zinc ions. Binds to IgG subclasses of immunoglobins containing kappa and lambda light chains with different affinities regulating their clearance and inhibiting the formation of insoluble immune complexes. Tethers plasminogen to the cell surface. Binds T-cells and alters the cell morphology. Modulates angiogenesis by blocking the CD6-mediated antiangiongenic effect of thrombospondins, THBS1 and THBS2. Acts as a regulator of the vascular endothelial growth factor (VEGF) signaling pathway; inhibits endothelial cell motility by reducing VEGF-induced complex formation between PXN/paxillin and ILK/integrin-linked protein kinase and by promoting inhibition of VEGF-induced tyrosine phosphorylation of focal adhesion kinases and alpha-actinins in endothelial cells. Also plays a role in the regulation of tumor angiogenesis and tumor immune surveillance. Normalizes tumor vessels and promotes antitumor immunity by polarizing tumor-associated macrophages, leading to decreased tumor growth and metastasis. Zinc. Interacts (via the HRR domain) with TPM1; the interaction appears to contribute to the antiangiogenic properties of the HRR domain. Interacts with THBS2; the interaction blocks the antiangiogenic effect of THBS2 with CD36 (By similarity). Interacts with THBS1 (via the TSP type I repeats); the interaction blocks the antiangiogenic effect of THBS1 with CD3. Interacts with PLG (via its Kringle domains); the interaction tethers PLG to the cell surface and enhances its activation. Interacts with HPSE; the interaction is enhanced at acidic pH, partially inhibits binding of HPSE to cell surface receptors and modulates its enzymatic activity. Interacts (via the HRR domain) with TMP1; the interaction partially mediates the antiangiogenic properties of HRG. Interacts with kappa and lambda light chains of IgG molecules. Interacts with ATP5A1; the interaction occurs on the surface of T-cells and alters their cell morphology in concert with CONA. Binds IgG molecules containing kappa and lambda light chains and inhibits the formation of insoluble immunoglobulin complexes. Interacts with F12; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding to HRG, inhibits factor XII autoactivation and contact-initiated coagulation. Q96PM5:RCHY1; NbExp=3; IntAct=EBI-3915012, EBI-947779; Secreted. Expressed in macrophages and in malignant cells. Expressed by the liver and secreted in plasma (at protein level). The His/Pro-rich (HRR) region contains approximately 12 tandem internal repeats of the 5-residue G[H/P][H/P]PH consensus sequence. HRR binds heparan sulfate and possesses antiangiogenic, antibacterial and antifungal properties through binding Candida cells, and preferentially lysing the ergosterol-containing liposomes at low pH. The tandem repeats also bind divalent metal ions and heme. The cystatin domains can also bind heparan sulfate. Binding is enhanced in the presence of zinc ions. Proteolytic cleavage produces several HRG fragments which are mostly disulfide-linked and, therefore, not released. Cleavage by plasmin is inhibited in the presence of heparin, zinc ions or in an acidic environment. Cleavage reduces binding of HRG to heparan sulfate, but enhances the ability of HRG to bind and tether plasminogen to the cell surface. On platelet activation, releases a 33 kDa antiangiogenic peptide which encompasses the HRR. Also cleaved in the C-terminal by plasmin. N-glycosylated. Defects in HRG are the cause of thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) [MIM:613116]. A hemostatic disorder characterized by a tendency to thrombosis. Contains 2 cystatin domains. angiogenesis platelet degranulation positive regulation of immune response to tumor cell serine-type endopeptidase inhibitor activity cysteine-type endopeptidase inhibitor activity receptor binding protein binding extracellular region plasma membrane chemotaxis negative regulation of cell adhesion blood coagulation hemostasis heparin binding zinc ion binding negative regulation of cell proliferation cell surface regulation of gene expression regulation of platelet activation negative regulation of lamellipodium assembly negative regulation of endopeptidase activity heme transport negative regulation of angiogenesis immunoglobulin binding heme binding platelet activation regulation of blood coagulation negative regulation of cell growth platelet alpha granule lumen regulation of actin cytoskeleton organization negative regulation of cell adhesion mediated by integrin endolysosome fibrinolysis positive regulation of apoptotic process regulation of protein complex assembly heparan sulfate proteoglycan binding negative regulation of blood vessel endothelial cell migration metal ion binding regulation of peptidyl-tyrosine phosphorylation defense response to fungus cytolysis in other organism positive regulation of focal adhesion assembly negative regulation of fibrinolysis extracellular exosome blood microparticle negative regulation of vascular endothelial growth factor signaling pathway positive regulation of blood vessel remodeling negative regulation of endothelial cell chemotaxis  uc003fqq.1 uc003fqq.2 uc003fqq.3 uc003fqq.4 uc003fqq.5 uc003fqq.6 
ENST00000232014.8 BCL6 ENST00000232014.8 Homo sapiens BCL6 transcription repressor (BCL6), transcript variant 2, mRNA. (from RefSeq NM_001130845) A7E241 B8PSA7 BCL5 BCL6_HUMAN D3DNV5 ENST00000232014.1 ENST00000232014.2 ENST00000232014.3 ENST00000232014.4 ENST00000232014.5 ENST00000232014.6 ENST00000232014.7 LAZ3 NM_001130845 P41182 ZBTB27 ZNF51 uc003frp.1 uc003frp.2 uc003frp.3 uc003frp.4 The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. Transcriptional repressor which is required for germinal center formation and antibody affinity maturation. Probably plays an important role in lymphomagenesis. Homodimer. Interacts (via BTB domain) with BCOR; the interaction is direct. Interacts (via BTB domain) with NCOR2; the interaction is direct. Interacts with ZBTB7 and BCL6B (By similarity). Interacts with the catalytic domain of HDAC9. P56524:HDAC4; NbExp=3; IntAct=EBI-765407, EBI-308629; Q9UKV0:HDAC9; NbExp=2; IntAct=EBI-765407, EBI-765444; Q9ULU4:ZMYND8; NbExp=3; IntAct=EBI-765407, EBI-765834; Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P41182-1; Sequence=Displayed; Name=2; IsoId=P41182-2; Sequence=VSP_042709; Note=No experimental confirmation available; Expressed in germinal center T and B-cells and in primary immature dendritic cells. Down-regulated during maturation of dendritic cells by selective stimuli such as bacterial lipopolysaccharides (LPS), CD40LG and zymosan. The BTB domain mediates homodimerization. Its dimer interface mediates peptide binding such as to corepressors BCOR and NCOR2. Phosphorylated by MAPK1 in response to antigen receptor activation at Ser-333 and Ser-343. Phosphorylation induces its degradation by ubiquitin/proteasome pathway. Polyubiquitinated. Polyubiquitination leads to degradation by the proteasome. Note=Chromosomal aberrations involving BCL6 may be a cause of B-cell non-Hodgkin lymphoma. Translocation t(3;14)(q27;q32); translocation t(3;22)(q27;q11) with immunoglobulin gene regions. Note=A chromosomal aberration involving BCL6 may be a cause of a form of B-cell leukemia. Translocation t(3;11)(q27;q23) with POU2AF1/OBF1. Note=A chromosomal aberration involving BCL6 may be a cause of lymphoma. Translocation t(3;4)(q27;p11) with ARHH/TTF. Contains 1 BTB (POZ) domain. Contains 6 C2H2-type zinc fingers. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL6ID20.html"; negative regulation of transcription from RNA polymerase II promoter cell morphogenesis RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding intronic transcription regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding negative regulation of cell-matrix adhesion immune system process germinal center formation regulation of germinal center formation negative regulation of type 2 immune response negative regulation of B cell apoptotic process nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm Golgi apparatus regulation of transcription from RNA polymerase II promoter inflammatory response cellular response to DNA damage stimulus Rho protein signal transduction spermatogenesis protein localization negative regulation of cell proliferation cytokine-mediated signaling pathway actin cytoskeleton organization B cell differentiation negative regulation of cell growth positive regulation of B cell proliferation positive regulation of histone deacetylation chromatin DNA binding negative regulation of mast cell cytokine production negative regulation of Rho protein signal transduction type 2 immune response regulation of cell proliferation identical protein binding regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process regulation of GTPase activity regulation of memory T cell differentiation sequence-specific DNA binding positive regulation of regulatory T cell differentiation negative regulation of cell differentiation negative regulation of T-helper 2 cell differentiation positive regulation of neuron differentiation negative regulation of Notch signaling pathway negative regulation of transcription, DNA-templated metal ion binding negative regulation of isotype switching to IgE isotypes erythrocyte development regulation of inflammatory response regulation of immune response positive regulation of cellular component movement negative regulation of mitotic cell cycle DNA replication negative regulation of cellular senescence replication fork  uc003frp.1 uc003frp.2 uc003frp.3 uc003frp.4 
ENST00000232125.9 FAM162A ENST00000232125.9 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8W7Q4) BC010896 ENST00000232125.1 ENST00000232125.2 ENST00000232125.3 ENST00000232125.4 ENST00000232125.5 ENST00000232125.6 ENST00000232125.7 ENST00000232125.8 F8W7Q4 F8W7Q4_HUMAN uc062mzy.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. mitochondrion cytosol membrane integral component of membrane  uc062mzy.1 
ENST00000232217.6 RBP2 ENST00000232217.6 Homo sapiens retinol binding protein 2 (RBP2), mRNA. (from RefSeq NM_004164) A8K7G3 CRBP2 ENST00000232217.1 ENST00000232217.2 ENST00000232217.3 ENST00000232217.4 ENST00000232217.5 NM_004164 P50120 Q6ISQ9 Q6ISS7 RET2_HUMAN uc003eth.1 uc003eth.2 uc003eth.3 uc003eth.4 This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AW772327.1, AK291978.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232217.6/ ENSP00000232217.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Intracellular transport of retinol. Cytoplasm. Higher expression in adult small intestine and to a much lesser extent in fetal kidney. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. retinoid metabolic process retinoid binding cytoplasm cytosol vitamin A metabolic process lipid binding epidermis development retinal binding retinol binding  uc003eth.1 uc003eth.2 uc003eth.3 uc003eth.4 
ENST00000232219.6 RBP1 ENST00000232219.6 retinol binding protein 1 (from HGNC RBP1) A0A0A0MQT0 ENST00000232219.1 ENST00000232219.2 ENST00000232219.3 ENST00000232219.4 ENST00000232219.5 M11433 uc003eti.1 uc003eti.2  uc003eti.1 uc003eti.2 
ENST00000232375.8 PFKFB4 ENST00000232375.8 Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), transcript variant 2, mRNA. (from RefSeq NM_004567) ENST00000232375.1 ENST00000232375.2 ENST00000232375.3 ENST00000232375.4 ENST00000232375.5 ENST00000232375.6 ENST00000232375.7 F264_HUMAN NM_004567 Q16877 Q5S3G5 uc003ctv.1 uc003ctv.2 uc003ctv.3 uc003ctv.4 uc003ctv.5 The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. Synthesis and degradation of fructose 2,6-bisphosphate. Beta-D-fructose 2,6-bisphosphate + H(2)O = D- fructose 6-phosphate + phosphate. ATP + D-fructose 6-phosphate = ADP + beta-D- fructose 2,6-bisphosphate. The most important regulatory mechanism of these opposing activities is by phosphorylation and dephosphorylation of the enzyme (By similarity). Homodimer (By similarity). In the C-terminal section; belongs to the phosphoglycerate mutase family. nucleotide binding catalytic activity 6-phosphofructo-2-kinase activity fructose-2,6-bisphosphate 2-phosphatase activity ATP binding cytosol fructose metabolic process fructose 2,6-bisphosphate metabolic process metabolic process kinase activity phosphorylation dephosphorylation transferase activity hydrolase activity positive regulation of glycolytic process carbohydrate phosphorylation  uc003ctv.1 uc003ctv.2 uc003ctv.3 uc003ctv.4 uc003ctv.5 
ENST00000232424.4 HES1 ENST00000232424.4 Homo sapiens hes family bHLH transcription factor 1 (HES1), mRNA. (from RefSeq NM_005524) BHLHB39 ENST00000232424.1 ENST00000232424.2 ENST00000232424.3 HES1_HUMAN HL HRY NM_005524 Q14469 Q6FHB2 uc003ftq.1 uc003ftq.2 uc003ftq.3 uc003ftq.4 This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA569975.1, AK000415.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232424.4/ ENSP00000232424.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage. Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts (via WPRW motif) with TLE1, and more weakly with TLE2. Interacts with HES6 (By similarity). Interacts with SIRT1. Interacts with an FA complex, composed of FANCA, FANCF, FANCG and FANCL, but not of FANCC, nor FANCE. Q96EB6:SIRT1; NbExp=4; IntAct=EBI-2832522, EBI-1802965; Nucleus. Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG). The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins (By similarity). The bHLH, as well as cooperation between the central Orange domain and the C-terminal WRPW motif, is required for transcriptional repressor activity (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 Orange domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development liver development embryonic heart tube morphogenesis outflow tract morphogenesis regulation of secondary heart field cardioblast proliferation ventricular septum development DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell adhesion Notch signaling pathway smoothened signaling pathway pattern specification process nervous system development transcription factor binding positive regulation of cell proliferation anterior/posterior pattern specification cell migration telencephalon development midbrain-hindbrain boundary morphogenesis oculomotor nerve development trochlear nerve development hindbrain morphogenesis forebrain radial glial cell differentiation neural tube development pituitary gland development adenohypophysis development cell differentiation lung development positive regulation of BMP signaling pathway midbrain development pancreas development somatic stem cell population maintenance aorta morphogenesis ascending aorta morphogenesis positive regulation of T cell proliferation positive regulation of tyrosine phosphorylation of STAT protein protein homodimerization activity histone deacetylase binding positive regulation of DNA binding sequence-specific DNA binding cell fate commitment negative regulation of cell differentiation regulation of fat cell differentiation negative regulation of auditory receptor cell differentiation negative regulation of neuron differentiation positive regulation of Notch signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of mitotic cell cycle, embryonic lateral inhibition regulation of JAK-STAT cascade positive regulation of JAK-STAT cascade protein dimerization activity cell maturation regulation of timing of cell differentiation thymus development cell morphogenesis involved in neuron differentiation positive regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation artery morphogenesis regulation of epithelial cell proliferation regulation of neurogenesis chaperone binding inner ear receptor stereocilium organization regulation of timing of neuron differentiation negative regulation of glial cell proliferation ventricular septum morphogenesis ureteric bud morphogenesis labyrinthine layer blood vessel development common bile duct development negative regulation of stomach neuroendocrine cell differentiation cardiac neural crest cell development involved in outflow tract morphogenesis pharyngeal arch artery morphogenesis macromolecular complex assembly E-box binding N-box binding glomerulus vasculature development comma-shaped body morphogenesis S-shaped body morphogenesis renal interstitial fibroblast development metanephric nephron tubule morphogenesis cochlea development establishment of epithelial cell polarity vascular smooth muscle cell development neuronal stem cell population maintenance negative regulation of pancreatic A cell differentiation negative regulation of stem cell differentiation negative regulation of pro-B cell differentiation negative regulation of forebrain neuron differentiation negative regulation of inner ear receptor cell differentiation  uc003ftq.1 uc003ftq.2 uc003ftq.3 uc003ftq.4 
ENST00000232458.9 ECT2 ENST00000232458.9 Homo sapiens epithelial cell transforming 2 (ECT2), transcript variant 3, mRNA. (from RefSeq NM_018098) ECT2_HUMAN ENST00000232458.1 ENST00000232458.2 ENST00000232458.3 ENST00000232458.4 ENST00000232458.5 ENST00000232458.6 ENST00000232458.7 ENST00000232458.8 NM_018098 Q0MT80 Q2M269 Q6U836 Q9H8V3 Q9NSV8 Q9NVW9 uc003fii.1 uc003fii.2 uc003fii.3 uc003fii.4 The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]. Guanine nucleotide exchange factor (GEF) that catalyzes the exchange of GDP for GTP. Promotes guanine nucleotide exchange on the Rho family members of small GTPases, like RHOA, RHOC, RAC1 and CDC42. Required for signal transduction pathways involved in the regulation of cytokinesis. Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Regulates the translocation of RHOA from the central spindle to the equatorial region. Plays a role in the control of mitotic spindle assembly; regulates the activation of CDC42 in metaphase for the process of spindle fibers attachment to kinetochores before chromosome congression. Involved in the regulation of epithelial cell polarity; participates in the formation of epithelial tight junctions in a polarity complex PARD3-PARD6-protein kinase PRKCQ-dependent manner. Plays a role in the regulation of neurite outgrowth. Inhibits phenobarbital (PB)- induced NR1I3 nuclear translocation. Stimulates the activity of RAC1 through its association with the oncogenic PARD6A-PRKCI complex in cancer cells, thereby acting to coordinately drive tumor cell proliferation and invasion. Also stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death. Interacts with NR1I3 (By similarity). Homodimer. Homooligomer. Found in the centralspindlin complex. Interacts (Thr-359 phosphorylated form) with PARD6A; the interaction is observed in cancer cells. Interacts (Thr-359 phosphorylated form) with PRKCI; the interaction is observed in cancer cells. Interacts with PKP4; the interaction is observed at the midbody. Interacts with RACGAP1; the interaction is direct, occurs in a microtubule- dependent manner, is inhibited in metaphase by phosphorylation of ECT2 on Thr-373 and is stimulated in early anaphase by dephosphorylation of ECT2 probably on Thr-373 through CDK1 activity. Interacts with PLK1; the interaction is stimulated upon its phosphorylation on Thr-444. Associates with RACGAP1 at anaphase and during cytokinesis. Interacts with KIF23, PARD3, PARD6A, PARD6B and PRKCQ. P16333:NCK1; NbExp=3; IntAct=EBI-1054039, EBI-389883; Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cleavage furrow. Midbody. Cell junction. Cell junction, tight junction. Note=Sequestered within the nucleus during interphase. Dispersed throughout the cytoplasm upon breakdown of the nuclear envelope during mitosis. Colocalizes with the centralspindlin complex to the mitotic spindles during anaphase/metaphase, the cleavage furrow during telophase and at the midbody at the end of cytokinesis. Colocalized with RhoA at the midbody. Its subcellular localization to tight junction is increased by calcium. Localized predominantly in the cytoplasm of numerous carcinoma cells. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H8V3-1; Sequence=Displayed; Name=2; IsoId=Q9H8V3-2; Sequence=VSP_041976, VSP_041977; Name=3; IsoId=Q9H8V3-3; Sequence=VSP_041978; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; Expressed in lung epithelial cells (at protein level). Expressed in squamous cell carcinoma, primary non-small cell lung cancer tumors and lung adenocarcinoma. Up-regulated by calcium in cells forming cell-cell contact sites. Up-regulated by DNA damaging agents like H(2)O(2) or ionizing radiation (IR). The BRCT domain 1 and 2 are required for the intramolecular interaction, but not for the intermolecular oligomerization. The BRCT domains negatively inhibit its GEF activity in interphase cells. The same BRCT domains may act as a positive regulatory motif for the completion of cytokinesis after the breakdown of nuclear membrane during mitosis. Phosphorylated by PLK1 in vitro. Hyperphosphorylated during the G2 phase of the cell cycle. Phosphorylation at Thr-373 occurs during the G2/M phase, relieves its auto-inhibition status and stimulates its GEF activity. Phosphorylation at Thr-444 in G2/M phase is required for subsequent binding with PLK1 and Rho exchange activation. Dephosphorylated at the time of cytokinesis. Phosphorylation at Thr-359 is required for its transformation activity in cancer cells. Contains 2 BRCT domains. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Sequence=BAA91624.1; Type=Erroneous initiation; Note=Translation N-terminally extended; mitotic cytokinesis cell morphogenesis guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity GTPase activator activity protein binding nucleus cytoplasm spindle cytosol cytoskeleton cell-cell junction bicellular tight junction cell cycle G-protein coupled receptor signaling pathway nervous system development protein transport Rho GTPase binding cell junction cell differentiation midbody activation of protein kinase activity cleavage furrow positive regulation of cytokinesis regulation of Rho protein signal transduction intracellular signal transduction positive regulation of protein import into nucleus protein homodimerization activity positive regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of GTPase activity positive regulation of neuron differentiation regulation of protein kinase activity regulation of small GTPase mediated signal transduction protein homooligomerization cell division regulation of attachment of spindle microtubules to kinetochore cellular response to hydrogen peroxide bicellular tight junction assembly cellular response to calcium ion cellular response to ionizing radiation mitotic spindle activation of GTPase activity centralspindlin complex regulation of cytokinesis, actomyosin contractile ring assembly  uc003fii.1 uc003fii.2 uc003fii.3 uc003fii.4 
ENST00000232461.8 GNAT1 ENST00000232461.8 Homo sapiens G protein subunit alpha transducin 1 (GNAT1), transcript variant 1, mRNA. (from RefSeq NM_144499) ENST00000232461.1 ENST00000232461.2 ENST00000232461.3 ENST00000232461.4 ENST00000232461.5 ENST00000232461.6 ENST00000232461.7 GNAT1_HUMAN GNATR NM_144499 P11488 Q4VBN2 uc003cym.1 uc003cym.2 uc003cym.3 uc003cym.4 Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]. Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase. G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons. Rod. Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]; also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Name=Mutations of the GNAT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gntmut.htm"; acyl binding nucleotide binding detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor binding photoreceptor outer segment photoreceptor inner segment GTPase activity GTP binding cytoplasm cytosol heterotrimeric G-protein complex plasma membrane protein folding signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway visual perception phototransduction phototransduction, visible light cell proliferation response to light stimulus response to light intensity membrane rhodopsin mediated signaling pathway apical plasma membrane guanyl nucleotide binding GDP binding protein kinase binding regulation of rhodopsin mediated signaling pathway G-protein beta/gamma-subunit complex binding photoreceptor connecting cilium eye photoreceptor cell development photoreceptor outer segment membrane cell projection neuronal cell body metal ion binding response to stimulus detection of light stimulus involved in visual perception sensory perception of umami taste positive regulation of cyclic-nucleotide phosphodiesterase activity negative regulation of cyclic-nucleotide phosphodiesterase activity retina development in camera-type eye cellular response to electrical stimulus photoreceptor disc membrane  uc003cym.1 uc003cym.2 uc003cym.3 uc003cym.4 
ENST00000232496.5 TUSC2 ENST00000232496.5 Homo sapiens tumor suppressor 2, mitochondrial calcium regulator (TUSC2), mRNA. (from RefSeq NM_007275) B2R4Y9 C3orf11 ENST00000232496.1 ENST00000232496.2 ENST00000232496.3 ENST00000232496.4 FUS1 LGCC NM_007275 O75896 PDAP2 TUSC2_HUMAN uc003czy.1 uc003czy.2 uc003czy.3 This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.125991.1, AF055479.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2150385, SAMEA2467148 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 21645495 ##RefSeq-Attributes-END## May function as a tumor suppressor, inhibiting colony formation, causing G1 arrest and ultimately inducing apoptosis in homozygous 3p21.3 120-kb region-deficient cells. P00521:ABL (xeno); NbExp=1; IntAct=EBI-1052725, EBI-1550592; Q6P2I7:GK006; NbExp=1; IntAct=EBI-1052725, EBI-1047027; O95757:HSPA4L; NbExp=1; IntAct=EBI-1052725, EBI-358652; P50851:LRBA; NbExp=1; IntAct=EBI-1052725, EBI-1052167; Q562F6:SGOL2; NbExp=1; IntAct=EBI-1052725, EBI-989213; Strong expression in heart, lung, skeletal muscle, kidney, and pancreas, followed by brain and liver, lowest levels in placenta. Myristoylation is required for tumor suppressor activity. Belongs to the TUSC2 family. natural killer cell differentiation protein binding mitochondrion phagocytosis inflammatory response cell cycle interleukin-15 production negative regulation of interleukin-17 production positive regulation of interleukin-10 production cell maturation defense response to Gram-negative bacterium regulation of mitochondrial membrane potential response to defense-related host reactive oxygen species production neutrophil mediated killing of gram-negative bacterium chemokine (C-C motif) ligand 5 production regulation of reactive oxygen species metabolic process  uc003czy.1 uc003czy.2 uc003czy.3 
ENST00000232501.8 NPRL2 ENST00000232501.8 Homo sapiens NPR2 like, GATOR1 complex subunit (NPRL2), mRNA. (from RefSeq NM_006545) A8K831 ENST00000232501.1 ENST00000232501.2 ENST00000232501.3 ENST00000232501.4 ENST00000232501.5 ENST00000232501.6 ENST00000232501.7 NM_006545 NPRL2_HUMAN Q6FGS2 Q8WTW4 Q9Y249 Q9Y497 TUSC4 uc003daj.1 uc003daj.2 uc003daj.3 Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at the Tyr-9 Tyr-373 and Tyr-376 residues. May act as a tumor suppressor. Suppresses cell growth and enhanced sensitivity to various anticancer drugs. Forms a heterodimer with NPRL3. Interacts with PDPK1. Q12980:NPRL3; NbExp=1; IntAct=EBI-1043552, EBI-2650314; P10644:PRKAR1A; NbExp=1; IntAct=EBI-1043552, EBI-476431; P61081:UBE2M; NbExp=1; IntAct=EBI-1043552, EBI-1041660; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WTW4-1; Sequence=Displayed; Name=2; IsoId=Q8WTW4-2; Sequence=VSP_010329, VSP_010330, VSP_010331; Note=No experimental confirmation available; Most abundant in skeletal muscle, followed by brain, liver and pancreas, with lower amounts in lung, kidney, placenta and heart. Expressed in most lung cancer cell lines tested. Belongs to the NPR2 family. protein kinase activity GTPase activator activity protein binding lysosome lysosomal membrane protein phosphorylation cellular response to nitrogen starvation positive regulation of autophagy membrane negative regulation of TOR signaling negative regulation of kinase activity cellular response to amino acid starvation positive regulation of GTPase activity Iml1 complex regulation of autophagosome assembly  uc003daj.1 uc003daj.2 uc003daj.3 
ENST00000232508.9 CYB561D2 ENST00000232508.9 Homo sapiens cytochrome b561 family member D2 (CYB561D2), transcript variant 1, mRNA. (from RefSeq NM_007022) 101F6 A8K552 C56D2_HUMAN ENST00000232508.1 ENST00000232508.2 ENST00000232508.3 ENST00000232508.4 ENST00000232508.5 ENST00000232508.6 ENST00000232508.7 ENST00000232508.8 LUCA12.2 NM_007022 O14569 uc003dal.1 uc003dal.2 uc003dal.3 uc003dal.4 Binds 2 heme groups non-covalently (By similarity). Membrane; Multi-pass membrane protein (Probable). Contains 1 cytochrome b561 domain. ferroxidase activity endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane heme binding cytoplasmic vesicle membrane cytoplasmic vesicle vesicle metal ion binding oxidation-reduction process  uc003dal.1 uc003dal.2 uc003dal.3 uc003dal.4 
ENST00000232519.9 C3orf14 ENST00000232519.9 Homo sapiens chromosome 3 open reading frame 14 (C3orf14), transcript variant 3, mRNA. (from RefSeq NM_001291942) B2R9U0 CC014_HUMAN ENST00000232519.1 ENST00000232519.2 ENST00000232519.3 ENST00000232519.4 ENST00000232519.5 ENST00000232519.6 ENST00000232519.7 ENST00000232519.8 HT021 NM_001291942 Q9HBI5 uc062lcw.1  uc062lcw.1 
ENST00000232564.8 GNB4 ENST00000232564.8 Homo sapiens G protein subunit beta 4 (GNB4), mRNA. (from RefSeq NM_021629) B3KMH5 D3DNR8 ENST00000232564.1 ENST00000232564.2 ENST00000232564.3 ENST00000232564.4 ENST00000232564.5 ENST00000232564.6 ENST00000232564.7 GBB4_HUMAN NM_021629 Q9HAV0 uc003fjv.1 uc003fjv.2 uc003fjv.3 uc003fjv.4 uc003fjv.5 uc003fjv.6 Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.177602.1, SRR1803614.226704.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232564.8/ ENSP00000232564.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Belongs to the WD repeat G protein beta family. Contains 7 WD repeats. lysosomal membrane cytosol protein folding signal transduction substantia nigra development macromolecular complex binding extracellular exosome  uc003fjv.1 uc003fjv.2 uc003fjv.3 uc003fjv.4 uc003fjv.5 uc003fjv.6 
ENST00000232603.10 MORC1 ENST00000232603.10 Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. (from RefSeq NM_014429) ENST00000232603.1 ENST00000232603.2 ENST00000232603.3 ENST00000232603.4 ENST00000232603.5 ENST00000232603.6 ENST00000232603.7 ENST00000232603.8 ENST00000232603.9 MORC MORC1_HUMAN NM_014429 Q7L8E2 Q86VD1 Q9NSG7 Q9Y6D4 uc003dxl.1 uc003dxl.2 uc003dxl.3 uc003dxl.4 uc003dxl.5 This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]. ##Evidence-Data-START## Transcript exon combination :: BC050307.1, AF084946.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232603.10/ ENSP00000232603.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Required for spermatogenesis (By similarity). Nucleus (By similarity). Contains 1 CW-type zinc finger. behavioral fear response male germ cell nucleus nucleus multicellular organism development spermatogenesis zinc ion binding negative regulation of transposition negative regulation of gene expression cell differentiation regulation of gene expression, epigenetic DNA methylation involved in gamete generation DNA hypermethylation metal ion binding negative regulation of DNA-templated transcription, initiation  uc003dxl.1 uc003dxl.2 uc003dxl.3 uc003dxl.4 uc003dxl.5 
ENST00000232607.7 UMPS ENST00000232607.7 Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 2, non-coding RNA. (from RefSeq NR_033434) ENST00000232607.1 ENST00000232607.2 ENST00000232607.3 ENST00000232607.4 ENST00000232607.5 ENST00000232607.6 NR_033434 O00758 O00759 O00760 OK/SW-cl.21 P11172 Q16862 Q9H3Q2 Q9UG49 UMPS_HUMAN uc003ehl.1 uc003ehl.2 uc003ehl.3 uc003ehl.4 uc003ehl.5 uc003ehl.6 This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate. Orotidine 5'-phosphate = UMP + CO(2). Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2. Homodimer. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11172-1; Sequence=Displayed; Name=2; IsoId=P11172-2; Sequence=VSP_009273; Note=No experimental confirmation available; Defects in UMPS are the cause of orotic aciduria type 1 (ORAC1) [MIM:258900]. A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family. In the C-terminal section; belongs to the OMP decarboxylase family. Sequence=CAB45710.3; Type=Erroneous termination; Positions=430; Note=Translated as Gln; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMPS"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/umps/"; catalytic activity orotate phosphoribosyltransferase activity orotidine-5'-phosphate decarboxylase activity nucleus cytoplasm cytosol 'de novo' pyrimidine nucleobase biosynthetic process pyrimidine nucleotide biosynthetic process UMP biosynthetic process female pregnancy lactation metabolic process nucleoside metabolic process transferase activity transferase activity, transferring glycosyl groups lyase activity carboxy-lyase activity pyrimidine nucleobase biosynthetic process cellular response to drug identical protein binding 'de novo' UMP biosynthetic process pyrimidine nucleoside biosynthetic process  uc003ehl.1 uc003ehl.2 uc003ehl.3 uc003ehl.4 uc003ehl.5 uc003ehl.6 
ENST00000232744.13 ABTB1 ENST00000232744.13 Homo sapiens ankyrin repeat and BTB domain containing 1 (ABTB1), transcript variant 2, mRNA. (from RefSeq NM_172027) ABTB1_HUMAN BPOZ D3DNB0 ENST00000232744.1 ENST00000232744.10 ENST00000232744.11 ENST00000232744.12 ENST00000232744.2 ENST00000232744.3 ENST00000232744.4 ENST00000232744.5 ENST00000232744.6 ENST00000232744.7 ENST00000232744.8 ENST00000232744.9 NM_172027 PP2259 Q6ZNU9 Q71MF1 Q969K4 Q96S62 Q96S63 uc003ejt.1 uc003ejt.2 uc003ejt.3 uc003ejt.4 uc003ejt.5 This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]. May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes. Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=2; Synonyms=BPOZ-2; IsoId=Q969K4-1; Sequence=Displayed; Name=1; Synonyms=BPOZ-1; IsoId=Q969K4-2; Sequence=VSP_052148; Name=3; Synonyms=BPOZ-3; IsoId=Q969K4-3; Sequence=VSP_052149; Name=4; IsoId=Q969K4-4; Sequence=VSP_052150, VSP_052151, VSP_052152, VSP_052153; Note=No experimental confirmation available; Ubiquitously expressed in all fetal tissues examined including heart, brain, liver, and kidney. Also expressed at lower levels in both adult heart and hypertrophic heart. Contains 2 ANK repeats. Contains 2 BTB (POZ) domains. Sequence=AAQ04661.1; Type=Frameshift; Positions=202, 212; ubiquitin ligase complex translation elongation factor activity protein binding nucleolus cytoplasm cytosol plasma membrane translation translational elongation  uc003ejt.1 uc003ejt.2 uc003ejt.3 uc003ejt.4 uc003ejt.5 
ENST00000232766.6 KLHL18 ENST00000232766.6 Homo sapiens kelch like family member 18 (KLHL18), mRNA. (from RefSeq NM_025010) A8K612 ENST00000232766.1 ENST00000232766.2 ENST00000232766.3 ENST00000232766.4 ENST00000232766.5 KIAA0795 KLH18_HUMAN NM_025010 O94889 OK/SW-cl.74 Q7Z3E8 Q8N125 uc003crd.1 uc003crd.2 uc003crd.3 uc003crd.4 uc003crd.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94889-1; Sequence=Displayed; Name=2; IsoId=O94889-2; Sequence=VSP_035974; Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. Sequence=AAH32620.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAD97920.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding protein ubiquitination positive regulation of mitotic cell cycle phase transition  uc003crd.1 uc003crd.2 uc003crd.3 uc003crd.4 uc003crd.5 
ENST00000232854.9 HEMK1 ENST00000232854.9 Homo sapiens HemK methyltransferase family member 1 (HEMK1), transcript variant 1, mRNA. (from RefSeq NM_016173) ENST00000232854.1 ENST00000232854.2 ENST00000232854.3 ENST00000232854.4 ENST00000232854.5 ENST00000232854.6 ENST00000232854.7 ENST00000232854.8 HEMK HEMK1_HUMAN NM_016173 Q9Y5R4 uc003dav.1 uc003dav.2 uc003dav.3 uc003dav.4 uc003dav.5 N5-glutamine methyltransferase responsible for the methylation of the GGQ triplet of the mitochondrial translation release factor MTRF1L. Mitochondrion. Belongs to the protein N5-glutamine methyltransferase family. nucleic acid binding DNA binding protein binding mitochondrion DNA methylation protein methylation methyltransferase activity N-methyltransferase activity protein methyltransferase activity transferase activity methylation  uc003dav.1 uc003dav.2 uc003dav.3 uc003dav.4 uc003dav.5 
ENST00000232888.7 RRP9 ENST00000232888.7 Homo sapiens ribosomal RNA processing 9, U3 small nucleolar RNA binding protein (RRP9), mRNA. (from RefSeq NM_004704) B2R996 ENST00000232888.1 ENST00000232888.2 ENST00000232888.3 ENST00000232888.4 ENST00000232888.5 ENST00000232888.6 NM_004704 O43818 Q8IZ30 RNU3IP2 U355K U3IP2_HUMAN uc003dbw.1 uc003dbw.2 uc003dbw.3 uc003dbw.4 This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.439055.1, BC009879.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232888.7/ ENSP00000232888.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of a nucleolar small nuclear ribonucleoprotein particle (snoRNP) thought to participate in the processing and modification of pre-ribosomal RNA. Interacts specifically with the U3 small nucleolar RNA (U3 snoRNA). Binds a sub-fragment of the U3 snoRNA surrounding the B/C motif (3UBC). This association with the U3BC RNA is dependent on the binding of a protein called 15.5K to the box B/C motif. The association of the protein with the U3BC RNA was found to be also dependent on a conserved RNA structure that flanks the box B/C motif. Nucleus, nucleolus. The WD domains are required for nucleolar localization and U3 small nucleolar RNAs binding. Belongs to the WD repeat RRP9 family. Contains 7 WD repeats. RNA binding nucleus nucleoplasm nucleolus rRNA processing box C/D snoRNP complex small-subunit processome U3 snoRNA binding  uc003dbw.1 uc003dbw.2 uc003dbw.3 uc003dbw.4 
ENST00000232892.12 AADAC ENST00000232892.12 Homo sapiens arylacetamide deacetylase (AADAC), mRNA. (from RefSeq NM_001086) A8K3L3 AAAD_HUMAN D3DNJ6 DAC ENST00000232892.1 ENST00000232892.10 ENST00000232892.11 ENST00000232892.2 ENST00000232892.3 ENST00000232892.4 ENST00000232892.5 ENST00000232892.6 ENST00000232892.7 ENST00000232892.8 ENST00000232892.9 NM_001086 P22760 Q8N1A9 uc003eze.1 uc003eze.2 uc003eze.3 uc003eze.4 uc003eze.5 Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189664.80955.1, SRR5189664.54243.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142363, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232892.12/ ENSP00000232892.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Arylacetamide deacetylation is an important enzyme activity in the metabolic activation of arylamine substrates to ultimate carcinogens. Displays major serine hydrolase activity in liver microsomes. Hydrolyzes also flutamide, which is an antiandrogen drug used for the treatment of prostate cancer that occasionally causes severe hepatotoxicity. Displays cellular triglyceride lipase activity in liver. Increases intracellular fatty acids derived from hydrolysis of newly formed triglyceride stores. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Kinetic parameters: KM=0.8 mM for flutamide; Vmax=1.1 nmol/min/mg enzyme toward flutamide; Endoplasmic reticulum membrane; Single-pass type II membrane protein. Microsome membrane; Single-pass type II membrane protein. Mainly expressed in liver, small intestine, colon and adrenal gland. Belongs to the 'GDXG' lipolytic enzyme family. Sequence=AAA35551.1; Type=Frameshift; Positions=53, 56; catalytic activity triglyceride lipase activity endoplasmic reticulum endoplasmic reticulum membrane xenobiotic metabolic process catabolic process positive regulation of triglyceride catabolic process membrane integral component of membrane lipase activity hydrolase activity serine hydrolase activity deacetylase activity organelle membrane short-chain carboxylesterase activity intracellular membrane-bounded organelle carboxylic ester hydrolase activity  uc003eze.1 uc003eze.2 uc003eze.3 uc003eze.4 uc003eze.5 
ENST00000232905.4 EIF1B ENST00000232905.4 Homo sapiens eukaryotic translation initiation factor 1B (EIF1B), mRNA. (from RefSeq NM_005875) ENST00000232905.1 ENST00000232905.2 ENST00000232905.3 GC20 NM_005875 Q6FG85 Q6FG85_HUMAN hCG_16417 uc003ckc.1 uc003ckc.2 uc003ckc.3 uc003ckc.4 uc003ckc.5 uc003ckc.6 translation initiation factor activity protein binding translational initiation  uc003ckc.1 uc003ckc.2 uc003ckc.3 uc003ckc.4 uc003ckc.5 uc003ckc.6 
ENST00000232974.11 ZBTB47 ENST00000232974.11 Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA. (from RefSeq NM_145166) ENST00000232974.1 ENST00000232974.10 ENST00000232974.2 ENST00000232974.3 ENST00000232974.4 ENST00000232974.5 ENST00000232974.6 ENST00000232974.7 ENST00000232974.8 ENST00000232974.9 KIAA1190 NM_145166 Q8WTY8 Q9UFB7 Q9ULN0 ZBT47_HUMAN ZNF651 uc003clu.1 uc003clu.2 uc003clu.3 uc003clu.4 May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers. nucleic acid binding DNA binding nucleus cellular response to DNA damage stimulus metal ion binding  uc003clu.1 uc003clu.2 uc003clu.3 uc003clu.4 
ENST00000232975.8 TNNC1 ENST00000232975.8 Homo sapiens troponin C1, slow skeletal and cardiac type (TNNC1), mRNA. (from RefSeq NM_003280) ENST00000232975.1 ENST00000232975.2 ENST00000232975.3 ENST00000232975.4 ENST00000232975.5 ENST00000232975.6 ENST00000232975.7 NM_003280 Q6FH91 Q6FH91_HUMAN hCG_42573 uc003deb.1 uc003deb.2 uc003deb.3 uc003deb.4 uc003deb.5 Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.140968.1, SRR5189655.222916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147920, SAMEA2151741 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000232975.8/ ENSP00000232975.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## diaphragm contraction calcium ion binding response to metal ion transition between fast and slow fiber regulation of muscle filament sliding speed contractile fiber regulation of ATPase activity actin filament binding cardiac muscle contraction  uc003deb.1 uc003deb.2 uc003deb.3 uc003deb.4 uc003deb.5 
ENST00000232978.13 NKTR ENST00000232978.13 Homo sapiens natural killer cell triggering receptor (NKTR), transcript variant 1, mRNA. (from RefSeq NM_005385) ENST00000232978.1 ENST00000232978.10 ENST00000232978.11 ENST00000232978.12 ENST00000232978.2 ENST00000232978.3 ENST00000232978.4 ENST00000232978.5 ENST00000232978.6 ENST00000232978.7 ENST00000232978.8 ENST00000232978.9 NKTR_HUMAN NM_005385 P30414 uc003clo.1 uc003clo.2 uc003clo.3 uc003clo.4 uc003clo.5 This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]. Component of a putative tumor-recognition complex. Involved in the function of NK cells. Peptidylproline (omega=180) = peptidylproline (omega=0). Membrane; Peripheral membrane protein. Note=Attached to the membrane via its N-terminus. Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 1 PPIase cyclophilin-type domain. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity nucleoplasm mitochondrion cytosol plasma membrane protein folding cyclosporin A binding membrane isomerase activity protein refolding unfolded protein binding  uc003clo.1 uc003clo.2 uc003clo.3 uc003clo.4 uc003clo.5 
ENST00000233025.11 SPCS1 ENST00000233025.11 Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (By similarity). (from UniProt Q9Y6A9) AX775785 B3KNF8 ENST00000233025.1 ENST00000233025.10 ENST00000233025.2 ENST00000233025.3 ENST00000233025.4 ENST00000233025.5 ENST00000233025.6 ENST00000233025.7 ENST00000233025.8 ENST00000233025.9 HSPC033 Q9BVW1 Q9Y6A9 SPC12 SPCS1_HUMAN uc062kpi.1 Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (By similarity). Component of the microsomal signal peptidase complex which consists of five members: SEC11A, SEC11C, SPCS1, SPCS2 and SPCS3 (By similarity). Microsome membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum membrane; Multi- pass membrane protein (By similarity). Belongs to the SPCS1 family. It is uncertain whether Met-1 or Met-68 is the initiator. Sequence=AAD40380.1; Type=Frameshift; Positions=31, 70; Sequence=AAH00884.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL31361.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG51320.1; Type=Erroneous initiation; Note=Translation N-terminally extended; molecular_function protein binding endoplasmic reticulum signal peptidase complex endoplasmic reticulum membrane signal peptide processing proteolysis peptidase activity membrane integral component of membrane hydrolase activity virion assembly viral protein processing integral component of endoplasmic reticulum membrane organelle membrane intracellular membrane-bounded organelle protein targeting to ER  uc062kpi.1 
ENST00000233027.10 NEK4 ENST00000233027.10 Homo sapiens NIMA related kinase 4 (NEK4), transcript variant 1, mRNA. (from RefSeq NM_003157) A5YM70 B2R633 B7Z200 ENST00000233027.1 ENST00000233027.2 ENST00000233027.3 ENST00000233027.4 ENST00000233027.5 ENST00000233027.6 ENST00000233027.7 ENST00000233027.8 ENST00000233027.9 NEK4_HUMAN NM_003157 P51957 Q6P576 STK2 uc003dfq.1 uc003dfq.2 uc003dfq.3 uc003dfq.4 uc003dfq.5 uc003dfq.6 The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]. Seems to act exclusively upon threonine residues (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51957-1; Sequence=Displayed; Name=2; IsoId=P51957-2; Sequence=VSP_037123, VSP_037124; Note=No experimental confirmation available; Name=3; IsoId=P51957-3; Sequence=VSP_043334; Note=No experimental confirmation available; Highest expression in adult heart, followed by pancreas, skeletal muscle, brain, liver, kidney, lung and placenta. Present in most primary carcinomas. Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Contains 1 protein kinase domain. nucleotide binding mitotic cell cycle protein kinase activity protein serine/threonine kinase activity ATP binding cytoplasm cytosol cilium protein phosphorylation cellular response to DNA damage stimulus cell cycle kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation manganese ion binding activation of protein kinase activity ciliary rootlet ciliary transition zone ciliary basal body cell projection positive regulation of transcription, DNA-templated metal ion binding cell division ciliary plasm regulation of replicative cell aging regulation of cellular senescence regulation of response to DNA damage stimulus  uc003dfq.1 uc003dfq.2 uc003dfq.3 uc003dfq.4 uc003dfq.5 uc003dfq.6 
ENST00000233047.9 LDAF1 ENST00000233047.9 Homo sapiens transmembrane protein 159 (TMEM159), transcript variant 4, mRNA. (from RefSeq NM_001301771) A6NMA9 ENST00000233047.1 ENST00000233047.2 ENST00000233047.3 ENST00000233047.4 ENST00000233047.5 ENST00000233047.6 ENST00000233047.7 ENST00000233047.8 NM_001301771 O00323 Q96B96 TM159_HUMAN TMEM159 uc002dih.1 uc002dih.2 uc002dih.3 uc002dih.4 uc002dih.5 uc002dih.6 Membrane; Multi-pass membrane protein (Potential). Expressed at high levels in the heart and skeletal muscle. Expressed at low levels in kidney, small intestine, lung and liver. Belongs to the TMEM159 family. protein binding membrane integral component of membrane  uc002dih.1 uc002dih.2 uc002dih.3 uc002dih.4 uc002dih.5 uc002dih.6 
ENST00000233055.9 WDFY1 ENST00000233055.9 Homo sapiens WD repeat and FYVE domain containing 1 (WDFY1), mRNA. (from RefSeq NM_020830) ENST00000233055.1 ENST00000233055.2 ENST00000233055.3 ENST00000233055.4 ENST00000233055.5 ENST00000233055.6 ENST00000233055.7 ENST00000233055.8 KIAA1435 NM_020830 Q53S17 Q8IWB7 Q9H9D5 Q9P2B3 WDF1 WDFY1_HUMAN ZFYVE17 uc002vnq.1 uc002vnq.2 uc002vnq.3 uc002vnq.4 uc002vnq.5 The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]. ##Evidence-Data-START## Transcript exon combination :: BC065934.1, SRR1660807.218551.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233055.9/ ENSP00000233055.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds PtdIns3P in vitro with high specificity over other phosphoinositides. Early endosome. The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions. Contains 1 FYVE-type zinc finger. Contains 7 WD repeats. Sequence=BAA92673.1; Type=Erroneous initiation; protein binding 1-phosphatidylinositol binding nucleus endosome early endosome cytosol zinc ion binding positive regulation of toll-like receptor 3 signaling pathway positive regulation of toll-like receptor 4 signaling pathway metal ion binding  uc002vnq.1 uc002vnq.2 uc002vnq.3 uc002vnq.4 uc002vnq.5 
ENST00000233057.9 EIF2AK2 ENST00000233057.9 Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA. (from RefSeq NM_002759) A8K3P0 D6W584 E2AK2_HUMAN ENST00000233057.1 ENST00000233057.2 ENST00000233057.3 ENST00000233057.4 ENST00000233057.5 ENST00000233057.6 ENST00000233057.7 ENST00000233057.8 NM_002759 P19525 PKR PRKR Q52M43 Q9UIR4 uc010fac.1 uc010fac.2 uc010fac.3 uc010fac.4 uc010fac.5 The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Following activation by double-stranded RNA in the presence of ATP, the kinase becomes autophosphorylated and can catalyze the phosphorylation of the translation initiation factor EIF2S1, which leads to an inhibition of the initiation of protein synthesis. Double-stranded RNA is generated during the course of a viral infection. In addition to serine/threonine-protein kinase activity, also has tyrosine-protein kinase activity: phosphorylates CDK1 upon DNA damage. CDK1 phosphorylation triggers CDK1 polyubiquitination and subsequent proteolysis, thus leading to G2 arrest. ATP + a protein = ADP + a phosphoprotein. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Activity is markedly stimulated by manganese ions. Besides dsRNA, heparin is a potent activator of the kinase. Binding to dsRNA is required for dimerization leading to autophosphorylation in the activation loop and stimulation of function. Inhibited by vaccinia virus protein E3, probably via dsRNA sequestering. Homodimer. Interacts with STRBP (By similarity). Interacts with DNAJC3. Inhibited by direct interaction with viral proteins such as HCV E2, HCV NS5A and influenza A NS1. Activated by the interaction with HIV-1 Tat (By similarity). Forms a complex with FANCA, FANCC, FANCG and HSP70. Q7L2E3:DHX30; NbExp=2; IntAct=EBI-640775, EBI-1211456; Q96C10:DHX58; NbExp=2; IntAct=EBI-640775, EBI-744193; Q08211:DHX9; NbExp=2; IntAct=EBI-640775, EBI-352022; Q9UPY3:DICER1; NbExp=2; IntAct=EBI-640775, EBI-395506; Q27968:DNAJC3 (xeno); NbExp=5; IntAct=EBI-640775, EBI-640793; Q6P2E9:EDC4; NbExp=2; IntAct=EBI-640775, EBI-1006038; P56537:EIF6; NbExp=2; IntAct=EBI-640775, EBI-372243; Q8IY81:FTSJ3; NbExp=2; IntAct=EBI-640775, EBI-744088; Q9HCE1:MOV10; NbExp=2; IntAct=EBI-640775, EBI-1055820; Q9NUL3:STAU2; NbExp=2; IntAct=EBI-640775, EBI-722938; Q15633:TARBP2; NbExp=2; IntAct=EBI-640775, EBI-978581; Q9H0E2:TOLLIP; NbExp=2; IntAct=EBI-640775, EBI-74615; Q9UL40:ZNF346; NbExp=2; IntAct=EBI-640775, EBI-2462313; By interferons alpha. Autophosphorylated on several Ser and Thr residues. Autophosphorylation of Thr-451 is dependent on Thr-446 and is stimulated by dsRNA binding and dimerization. Autophosphorylation apparently leads to the activation of the kinase. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Contains 2 DRBM (double-stranded RNA-binding) domains. Contains 1 protein kinase domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/prkr/"; nucleotide binding activation of MAPKK activity positive regulation of cytokine production immune system process RNA binding double-stranded RNA binding protein kinase activity protein serine/threonine kinase activity eukaryotic translation initiation factor 2alpha kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity protein binding ATP binding nucleus cytoplasm cytosol ribosome translation protein phosphorylation negative regulation of cell proliferation response to virus regulation of translational initiation by eIF2 alpha phosphorylation membrane viral process kinase activity phosphorylation transferase activity negative regulation of translation peptidyl-tyrosine phosphorylation protein phosphatase regulator activity evasion or tolerance by virus of host immune response endoplasmic reticulum unfolded protein response positive regulation of chemokine production positive regulation of stress-activated MAPK cascade negative regulation of osteoblast proliferation cellular response to amino acid starvation response to interferon-alpha identical protein binding negative regulation of apoptotic process regulation of phosphoprotein phosphatase activity negative regulation of viral genome replication innate immune response protein autophosphorylation perinuclear region of cytoplasm positive regulation of NF-kappaB transcription factor activity defense response to virus regulation of NLRP3 inflammasome complex assembly positive regulation of NIK/NF-kappaB signaling regulation of hematopoietic progenitor cell differentiation regulation of hematopoietic stem cell proliferation regulation of hematopoietic stem cell differentiation  uc010fac.1 uc010fac.2 uc010fac.3 uc010fac.4 uc010fac.5 
ENST00000233072.10 CPS1 ENST00000233072.10 Homo sapiens carbamoyl-phosphate synthase 1 (CPS1), transcript variant 6, non-coding RNA. (from RefSeq NR_161225) B7Z818 CPSM_HUMAN ENST00000233072.1 ENST00000233072.2 ENST00000233072.3 ENST00000233072.4 ENST00000233072.5 ENST00000233072.6 ENST00000233072.7 ENST00000233072.8 ENST00000233072.9 NR_161225 O43774 P31327 Q53TL5 Q7Z5I5 uc002vee.1 uc002vee.2 uc002vee.3 uc002vee.4 uc002vee.5 uc002vee.6 The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. 2 ATP + NH(3) + CO(2) + H(2)O = 2 ADP + phosphate + carbamoyl phosphate. Requires N-acetyl-L-glutamate (NAG) as an allosteric activator. P10398:ARAF; NbExp=3; IntAct=EBI-536811, EBI-365961; P04049:RAF1; NbExp=4; IntAct=EBI-536811, EBI-365996; Mitochondrion. Nucleus, nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P31327-1; Sequence=Displayed; Name=2; IsoId=P31327-2; Sequence=VSP_009332; Primarily in the liver and small intestine. The type-1 glutamine amidotransferase domain is defective. Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys- 1291 by SIRT5, leading to activation (By similarity). Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. Note=Genetic variations in CPS1 influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406. Contains 2 ATP-grasp domains. Contains 1 glutamine amidotransferase type-1 domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPS1"; Name=LOVD-Leiden Open Variation Database; Note=Carbamoyl-Phosphate Synthetase 1 (CPS1); URL="http://chromium.liacs.nl/lovd2/home.php?select_db=CPS1"; urea cycle nucleotide binding liver development catalytic activity carbamoyl-phosphate synthase (ammonia) activity carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity endopeptidase activity calcium ion binding protein binding ATP binding phospholipid binding nucleus nucleolus cytoplasm mitochondrion mitochondrial inner membrane mitochondrial matrix 'de novo' pyrimidine nucleobase biosynthetic process proteolysis glutamine metabolic process nitrogen compound metabolic process midgut development metabolic process response to toxic substance response to zinc ion response to amine glutamate binding ligase activity citrulline biosynthetic process triglyceride catabolic process response to food response to lipopolysaccharide macromolecular complex response to glucagon response to oleic acid vasodilation response to drug response to starvation mitochondrial nucleoid response to amino acid cellular response to fibroblast growth factor stimulus macromolecular complex binding nitric oxide metabolic process metal ion binding response to steroid hormone homocysteine metabolic process response to glucocorticoid response to cAMP anion homeostasis response to growth hormone hepatocyte differentiation carbamoyl phosphate biosynthetic process cellular response to cAMP cellular response to glucagon stimulus cellular response to oleic acid response to dexamethasone modified amino acid binding cellular response to ammonia  uc002vee.1 uc002vee.2 uc002vee.3 uc002vee.4 uc002vee.5 uc002vee.6 
ENST00000233078.9 DAZAP1 ENST00000233078.9 Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA. (from RefSeq NM_018959) DAZP1_HUMAN ENST00000233078.1 ENST00000233078.2 ENST00000233078.3 ENST00000233078.4 ENST00000233078.5 ENST00000233078.6 ENST00000233078.7 ENST00000233078.8 NM_018959 Q96EP5 Q96MJ3 Q9NRR9 uc002lsn.1 uc002lsn.2 uc002lsn.3 uc002lsn.4 uc002lsn.5 uc002lsn.6 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]. RNA-binding protein, which may be required during spermatogenesis. Interacts with DAZ and DAZL. Cytoplasm. Nucleus. Note=Predominantly cytoplasmic (By similarity). Nuclear at some stages of spermatozoides development. In midpachytene spermatocytes, it is localized in both the cytoplasm and the nuclei and is clearly excluded from the sex vesicles. In round spermatids, it localizes mainly in the nuclei, whereas in elongated spermatids, it localizes to the cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EP5-1; Sequence=Displayed; Name=2; IsoId=Q96EP5-2; Sequence=VSP_009441; Note=No experimental confirmation available; Mainly expressed in testis. Expressed to a lower level in thymus. Weakly or not expressed in heart, liver, brain, placenta, lung, skeletal muscle, kidney and pancreas. Phosphorylated upon DNA damage, probably by ATM or ATR. Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic transport. Contains 2 RRM (RNA recognition motif) domains. Sequence=BAB71295.1; Type=Erroneous initiation; maternal placenta development nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus nucleoplasm cytoplasm cytosol multicellular organism development spermatogenesis poly(U) RNA binding cell proliferation cell differentiation macromolecular complex poly(G) binding RNA stem-loop binding positive regulation of mRNA splicing, via spliceosome ribonucleoprotein complex  uc002lsn.1 uc002lsn.2 uc002lsn.3 uc002lsn.4 uc002lsn.5 uc002lsn.6 
ENST00000233084.8 DDX1 ENST00000233084.8 Homo sapiens DEAD-box helicase 1 (DDX1), mRNA. (from RefSeq NM_004939) DDX1_HUMAN ENST00000233084.1 ENST00000233084.2 ENST00000233084.3 ENST00000233084.4 ENST00000233084.5 ENST00000233084.6 ENST00000233084.7 NM_004939 Q92499 uc002rce.1 uc002rce.2 uc002rce.3 uc002rce.4 uc002rce.5 uc002rce.6 DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X70649.1, SRR1803614.49929.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233084.8/ ENSP00000233084.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF- kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3'-end cleavage and polyadenylation of pre-mRNAs. Required for HIV-1 Rev function as well as for HIV-1 replication. Binds to the RRE sequence of HIV-1 mRNAs. ATP + H(2)O = ADP + phosphate. Interacts with PHF5A (via C-terminus) (By similarity). Interacts with MBNL1. Interacts with CSTF2. Interacts with HNRNPK. Interacts with ATM. Interacts with RELA (via C-terminus). Interacts (via C-terminus) with the replicase polyprotein 1ab Nsp14 of the avian infectious bronchitis virus (IBV). Interacts with Rev of HIV-1. Interacts with severe acute respiratory syndrome coronavirus (SARS-CoV) (via N-terminus). Component of the tRNA-splicing ligase complex. Nucleus. Cytoplasm. Cytoplasmic granule. Note=Localized with MBNL1, TIAL1 and YBX1 in stress granules upon stress. Localized with CSTF2 in cleavage bodies. Forms large aggregates called DDX1 bodies. Relocalized into multiple foci (IR- induced foci or IRIF) after IR treatment, a process that depends on the presence of chromosomal DNA and/or RNA-DNA duplexes. Relocalized at sites of DNA double-strand breaks (DSBs) in an ATM- dependent manner after IR treatment. Colocalized with RELA in the nucleus upon TNF-alpha induction. Relocalized to the cytoplasm with a perinuclear staining pattern in avian infectious bronchitis virus (IBV)-infected cells. Required for proper localization of HIV-1 Rev. Highest levels of transcription in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin including the retina, brain, and spinal cord. The helicase domain is involved in the stimulation of RELA transcriptional activity. Phosphorylated. Phosphorylated by ATM kinase; phosphorylation is increased in response to ionizing radiation (IR). Belongs to the DEAD box helicase family. DDX1 subfamily. Contains 1 B30.2/SPRY domain. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. According to some authors the unwinding activity is ADP- dependent and not ATP-dependent (PubMed:18710941). nucleotide binding spliceosomal complex assembly immune system process positive regulation of myeloid dendritic cell cytokine production nucleic acid binding DNA binding chromatin binding transcription cofactor activity RNA binding RNA helicase activity double-stranded RNA binding helicase activity nuclease activity exonuclease activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion cytosol double-strand break repair tRNA splicing, via endonucleolytic cleavage and ligation mRNA processing regulation of translational initiation multicellular organism development tRNA processing poly(A) binding response to virus cytoplasmic stress granule membrane hydrolase activity DNA duplex unwinding DNA/RNA helicase activity positive regulation of I-kappaB kinase/NF-kappaB signaling response to exogenous dsRNA innate immune response defense response to virus cleavage body tRNA-splicing ligase complex nucleic acid phosphodiester bond hydrolysis regulation of nucleic acid-templated transcription protein localization to cytoplasmic stress granule ribonucleoprotein complex  uc002rce.1 uc002rce.2 uc002rce.3 uc002rce.4 uc002rce.5 uc002rce.6 
ENST00000233092.10 FKBP7 ENST00000233092.10 PPIases accelerate the folding of proteins during protein synthesis. (from UniProt Q9Y680) AF100751 ENST00000233092.1 ENST00000233092.2 ENST00000233092.3 ENST00000233092.4 ENST00000233092.5 ENST00000233092.6 ENST00000233092.7 ENST00000233092.8 ENST00000233092.9 FKBP23 FKBP7_HUMAN Q4ZG70 Q6V3B2 Q86U65 Q96DA4 Q9Y680 Q9Y6B0 UNQ670/PRO1304 uc061qcj.1 PPIases accelerate the folding of proteins during protein synthesis. Peptidylproline (omega=180) = peptidylproline (omega=0). Endoplasmic reticulum lumen (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y680-1; Sequence=Displayed; Name=2; IsoId=Q9Y680-2; Sequence=VSP_005187; Name=3; IsoId=Q9Y680-3; Sequence=VSP_041018; Glycosylated (By similarity). Binds calcium (By similarity). Contains 2 EF-hand domains. Contains 1 PPIase FKBP-type domain. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding protein binding endoplasmic reticulum endoplasmic reticulum lumen isomerase activity metal ion binding  uc061qcj.1 
ENST00000233099.6 HEATR5B ENST00000233099.6 Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA. (from RefSeq NM_019024) B5MDU8 ENST00000233099.1 ENST00000233099.2 ENST00000233099.3 ENST00000233099.4 ENST00000233099.5 HTR5B_HUMAN KIAA1414 NM_019024 Q7Z3B2 Q9NVL7 Q9P2D3 uc002rpp.1 uc002rpp.2 uc002rpp.3 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P2D3-1; Sequence=Displayed; Name=2; IsoId=Q9P2D3-2; Sequence=VSP_029690, VSP_029691; Name=3; IsoId=Q9P2D3-3; Sequence=VSP_029692; Belongs to the HEATR5 family. Contains 3 HEAT repeats. Sequence=BAA91733.1; Type=Erroneous initiation; protein binding cytosol endocytosis protein localization membrane endocytic vesicle retrograde transport, endosome to Golgi  uc002rpp.1 uc002rpp.2 uc002rpp.3 
ENST00000233114.13 MDH1 ENST00000233114.13 Homo sapiens malate dehydrogenase 1 (MDH1), transcript variant 1, mRNA. (from RefSeq NM_005917) ENST00000233114.1 ENST00000233114.10 ENST00000233114.11 ENST00000233114.12 ENST00000233114.2 ENST00000233114.3 ENST00000233114.4 ENST00000233114.5 ENST00000233114.6 ENST00000233114.7 ENST00000233114.8 ENST00000233114.9 NM_005917 V9HWF2 uc002scj.1 uc002scj.2 uc002scj.3 uc002scj.4 This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016].  uc002scj.1 uc002scj.2 uc002scj.3 uc002scj.4 
ENST00000233121.7 MAPRE3 ENST00000233121.7 Homo sapiens microtubule associated protein RP/EB family member 3 (MAPRE3), transcript variant 1, mRNA. (from RefSeq NM_012326) B7WPK5 ENST00000233121.1 ENST00000233121.2 ENST00000233121.3 ENST00000233121.4 ENST00000233121.5 ENST00000233121.6 MARE3_HUMAN NM_012326 O00265 Q6FHB0 Q6FI15 Q9BZP7 Q9BZP8 Q9UPY8 uc002rhw.1 uc002rhw.2 uc002rhw.3 uc002rhw.4 uc002rhw.5 The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]. Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity). Interacts with APC2 (By similarity). Homodimer. Heterodimer with MAPRE1. Interacts with DCTN1 and SRCIN1. Binds to the C-terminal domain of APC. Binds monomeric and polymerized tubulin. Interacts (via C-terminus) with CLIP1. Interacts with SLAIN2. P05412:JUN; NbExp=3; IntAct=EBI-726739, EBI-852823; Q9QWI6-2:Srcin1 (xeno); NbExp=5; IntAct=EBI-726739, EBI-775607; Cytoplasm, cytoskeleton. Note=Associated with the microtubule network. Detected at the plus end of microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=EBF3-L; IsoId=Q9UPY8-1; Sequence=Displayed; Name=2; Synonyms=EBF3-S; IsoId=Q9UPY8-2; Sequence=VSP_012947; Predominantly expressed in brain and muscle. Composed of two functionally independent domains. The N- terminal domain forms an hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1. Belongs to the MAPRE family. Contains 1 CH (calponin-homology) domain. Contains 1 EB1 C-terminal domain. Sequence=AAK07556.1; Type=Erroneous initiation; Sequence=AAK07557.1; Type=Erroneous initiation; Sequence=CAA72060.1; Type=Frameshift; Positions=199; protein binding cytoplasm microtubule organizing center cytoskeleton microtubule cytoplasmic microtubule cell cycle microtubule binding protein C-terminus binding protein localization microtubule cytoskeleton protein kinase binding midbody regulation of microtubule polymerization or depolymerization regulation of microtubule polymerization microtubule plus-end protein localization to microtubule identical protein binding positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of protein kinase activity positive regulation of transcription, DNA-templated perinuclear region of cytoplasm microtubule plus-end binding spindle assembly spindle midzone cell division positive regulation of microtubule plus-end binding protein localization to microtubule plus-end mitotic spindle astral microtubule end  uc002rhw.1 uc002rhw.2 uc002rhw.3 uc002rhw.4 uc002rhw.5 
ENST00000233143.6 TMSB10 ENST00000233143.6 Homo sapiens thymosin beta 10 (TMSB10), mRNA. (from RefSeq NM_021103) ENST00000233143.1 ENST00000233143.2 ENST00000233143.3 ENST00000233143.4 ENST00000233143.5 NM_021103 P13472 P63313 PTMB10 Q596K9 THYB10 TYB10_HUMAN uc002sow.1 uc002sow.2 uc002sow.3 Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity). Cytoplasm, cytoskeleton. Found to decrease dramatically after birth. Belongs to the thymosin beta family. Sequence=AAA36746.1; Type=Erroneous initiation; Sequence=AAC41691.1; Type=Erroneous initiation; actin binding actin monomer binding protein binding cytoplasm cytoskeleton actin filament organization regulation of cell migration sequestering of actin monomers  uc002sow.1 uc002sow.2 uc002sow.3 
ENST00000233146.7 MSH2 ENST00000233146.7 Homo sapiens mutS homolog 2 (MSH2), transcript variant 1, mRNA. (from RefSeq NM_000251) ENST00000233146.1 ENST00000233146.2 ENST00000233146.3 ENST00000233146.4 ENST00000233146.5 ENST00000233146.6 MSH2_HUMAN NM_000251 O75488 P43246 uc002rvy.1 uc002rvy.2 uc002rvy.3 uc002rvy.4 This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2- MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis. Heterodimer consisting of MSH2-MSH6 (MutS alpha) or MSH2- MSH3 (MutS beta). Both heterodimer form a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1- associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR. Interacts with SLX4/BTBD12; this interaction is direct and links MutS beta to SLX4, a subunit of different structure-specific endonucleases. Interacts with SMARCAD1. P39875:EXO1 (xeno); NbExp=2; IntAct=EBI-355888, EBI-6738; P20585:MSH3; NbExp=4; IntAct=EBI-355888, EBI-1164205; P52701:MSH6; NbExp=4; IntAct=EBI-355888, EBI-395529; Q8IY92:SLX4; NbExp=5; IntAct=EBI-355888, EBI-2370740; Nucleus (Potential). Ubiquitously expressed. Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in MSH2 are the cause of hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. MSH2 mutations may predispose to hematological malignancies and multiple cafe-au-lait spots. Defects in MSH2 are a cause of Muir-Torre syndrome (MRTES) [MIM:158320]. Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. Defects in MSH2 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]. Belongs to the DNA mismatch repair MutS family. Sequence=AAC27930.1; Type=Frameshift; Positions=417; Note=The frameshift is caused by a single nucleotide deletion which is found in a HNPCC kindred; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MSH2ID340ch2p22.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSH2"; Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh2/"; nucleotide binding double-strand/single-strand DNA junction binding nuclear chromosome, telomeric region in utero embryonic development somatic recombination of immunoglobulin genes involved in immune response DNA binding chromatin binding damaged DNA binding protein binding ATP binding nucleus nucleoplasm chromosome oxidative phosphorylation DNA repair mismatch repair postreplication repair double-strand break repair DNA recombination cellular response to DNA damage stimulus cell cycle arrest germ cell development protein C-terminus binding DNA-dependent ATPase activity determination of adult lifespan male gonad development intrinsic apoptotic signaling pathway in response to DNA damage response to X-ray response to UV-B membrane somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments ATPase activity centromeric DNA binding B cell mediated immunity enzyme binding protein kinase binding B cell differentiation mismatched DNA binding intra-S DNA damage checkpoint guanine/thymine mispair binding mismatch repair complex MutSalpha complex MutSbeta complex intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator protein homodimerization activity negative regulation of neuron apoptotic process maintenance of DNA repeat elements isotype switching negative regulation of DNA recombination positive regulation of isotype switching to IgA isotypes positive regulation of isotype switching to IgG isotypes positive regulation of helicase activity protein localization to chromatin magnesium ion binding four-way junction DNA binding double-stranded DNA binding single-stranded DNA binding dinucleotide insertion or deletion binding single guanine insertion binding single thymine insertion binding dinucleotide repeat insertion binding oxidized purine DNA binding MutLalpha complex binding ADP binding  uc002rvy.1 uc002rvy.2 uc002rvy.3 uc002rvy.4 
ENST00000233154.9 NCK2 ENST00000233154.9 Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA. (from RefSeq NM_003581) D3DVK1 ENST00000233154.1 ENST00000233154.2 ENST00000233154.3 ENST00000233154.4 ENST00000233154.5 ENST00000233154.6 ENST00000233154.7 ENST00000233154.8 GRB4 NCK2_HUMAN NM_003581 O43639 Q9BWN9 Q9UIC3 uc002tdg.1 uc002tdg.2 uc002tdg.3 uc002tdg.4 uc002tdg.5 This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Adapter protein which associates with tyrosine- phosphorylated growth factor receptors or their cellular substrates. Maintains low levels of EIF2S1 phosphorylation by promoting its dephosphorylation by PP1. Plays a role in ELK1- dependent transcriptional activation in response to activated Ras signaling. Interacts with DOCK1, LIMS1 and TGFB1I1. Part of a complex containing PPP1R15B, PP1 and NCK2. Interacts with FASLG (By similarity). Interacts with AXL. Interacts with PAK1, PKN2 and SOS1. Interacts (via SH2 domain) with EGFR. Interacts (via SH2 domain) with DDR1. Q7L0Q8:RHOU; NbExp=4; IntAct=EBI-713635, EBI-1638043; Cytoplasm. Endoplasmic reticulum. Ubiquitous. Phosphorylated. Contains 1 SH2 domain. Contains 3 SH3 domains. immunological synapse formation phosphotyrosine binding SH3/SH2 adaptor activity protein binding cytoplasm endoplasmic reticulum cytosol regulation of translation actin filament organization signal transduction signal complex assembly epidermal growth factor receptor signaling pathway regulation of epidermal growth factor-activated receptor activity cytoskeletal adaptor activity negative regulation of cell proliferation vesicle membrane postsynaptic density cell migration lamellipodium assembly receptor signaling complex scaffold activity positive regulation of actin filament polymerization negative regulation of peptidyl-serine phosphorylation positive regulation of translation in response to endoplasmic reticulum stress positive regulation of T cell proliferation T cell activation macromolecular complex binding synapse positive regulation of transcription from RNA polymerase II promoter vascular endothelial growth factor receptor signaling pathway ephrin receptor signaling pathway dendritic spine development scaffold protein binding positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway negative regulation of PERK-mediated unfolded protein response negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  uc002tdg.1 uc002tdg.2 uc002tdg.3 uc002tdg.4 uc002tdg.5 
ENST00000233156.9 TFPI ENST00000233156.9 Homo sapiens tissue factor pathway inhibitor (TFPI), transcript variant 1, mRNA. (from RefSeq NM_006287) ENST00000233156.1 ENST00000233156.2 ENST00000233156.3 ENST00000233156.4 ENST00000233156.5 ENST00000233156.6 ENST00000233156.7 ENST00000233156.8 LACI NM_006287 O95103 P10646 Q53TS4 TFPI1 TFPI1_HUMAN uc002upy.1 uc002upy.2 uc002upy.3 uc002upy.4 uc002upy.5 uc002upy.6 This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]. Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma. Isoform Alpha: Secreted. Isoform Beta: Microsome membrane; Lipid- anchor, GPI-anchor. Event=Alternative splicing; Named isoforms=2; Name=Alpha; Synonyms=TFPIalpha; IsoId=P10646-1; Sequence=Displayed; Name=Beta; Synonyms=TFPIbeta; IsoId=P10646-2; Sequence=VSP_003030, VSP_003031; Note=GPI-anchored; Mostly in endothelial cells. This inhibitor contains three inhibitory domains. The first domain interacts with VIIa and TF, the second one with Xa. O-glycosylated. Contains 3 BPTI/Kunitz inhibitor domains. Name=Wikipedia; Note=TFPI entry; URL="http://en.wikipedia.org/wiki/TFPI"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tfpi/"; endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity extracellular region extracellular space endoplasmic reticulum plasma membrane caveola blood coagulation blood coagulation, extrinsic pathway hemostasis cell surface negative regulation of peptidase activity negative regulation of endopeptidase activity membrane negative regulation of blood coagulation peptidase inhibitor activity organelle membrane anchored component of membrane response to estradiol response to lipopolysaccharide intracellular membrane-bounded organelle cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to steroid hormone stimulus  uc002upy.1 uc002upy.2 uc002upy.3 uc002upy.4 uc002upy.5 uc002upy.6 
ENST00000233190.11 NDUFS1 ENST00000233190.11 Homo sapiens NADH:ubiquinone oxidoreductase core subunit S1 (NDUFS1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005006) B4DJA0 B4DPG1 B4DUC1 ENST00000233190.1 ENST00000233190.10 ENST00000233190.2 ENST00000233190.3 ENST00000233190.4 ENST00000233190.5 ENST00000233190.6 ENST00000233190.7 ENST00000233190.8 ENST00000233190.9 NDUS1_HUMAN NM_005006 P28331 Q53TR8 Q8N1C4 Q8TCC9 uc002vbe.1 uc002vbe.2 uc002vbe.3 uc002vbe.4 uc002vbe.5 The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]. Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. NADH + ubiquinone = NAD(+) + ubiquinol. NADH + acceptor = NAD(+) + reduced acceptor. Binds 1 2Fe-2S cluster per subunit (By similarity). Binds 2 4Fe-4S clusters per subunit (By similarity). Complex I is composed of 45 different subunits. Mitochondrion inner membrane. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P28331-1; Sequence=Displayed; Name=2; IsoId=P28331-2; Sequence=VSP_042682; Note=No experimental confirmation available; Name=3; IsoId=P28331-3; Sequence=VSP_043728, VSP_043729; Note=No experimental confirmation available; Name=4; IsoId=P28331-4; Sequence=VSP_043727; Note=No experimental confirmation available; Defects in NDUFS1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. Belongs to the complex I 75 kDa subunit family. Contains 1 2Fe-2S ferredoxin-type domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS1"; NADH dehydrogenase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial intermembrane space mitochondrial matrix mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity apoptotic mitochondrial changes electron carrier activity membrane oxidoreductase activity oxidoreductase activity, acting on NAD(P)H mitochondrial respiratory chain complex I assembly ATP synthesis coupled electron transport cellular respiration ATP metabolic process metal ion binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding 4 iron, 4 sulfur cluster binding regulation of mitochondrial membrane potential oxidation-reduction process respiratory chain reactive oxygen species metabolic process  uc002vbe.1 uc002vbe.2 uc002vbe.3 uc002vbe.4 uc002vbe.5 
ENST00000233202.11 SLC11A1 ENST00000233202.11 Homo sapiens solute carrier family 11 member 1 (SLC11A1), mRNA. (from RefSeq NM_000578) ENST00000233202.1 ENST00000233202.10 ENST00000233202.2 ENST00000233202.3 ENST00000233202.4 ENST00000233202.5 ENST00000233202.6 ENST00000233202.7 ENST00000233202.8 ENST00000233202.9 LSH NM_000578 NRAM1_HUMAN NRAMP NRAMP1 P49279 uc002vhv.1 uc002vhv.2 uc002vhv.3 uc002vhv.4 This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.36007.1, D50402.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233202.11/ ENSP00000233202.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Macrophage-specific membrane transport function. Controls natural resistance to infection with intracellular parasites. Pathogen resistance involves sequestration of Fe(2+) and Mn(2+), cofactors of both prokaryotic and eukaryotic catalases and superoxide dismutases, not only to protect the macrophage against its own generation of reactive oxygen species, but to deny the cations to the pathogen for synthesis of its protective enzymes. Membrane; Multi-pass membrane protein (Probable). Macrophages; peripheral blood leukocytes, lung, spleen and liver. In response to lymphokine or bacterial products. Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium ulcerans [MIM:610446]. Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. Belongs to the NRAMP family. negative regulation of cytokine production positive regulation of cytokine production T cell proliferation involved in immune response T cell cytokine production positive regulation of dendritic cell antigen processing and presentation positive regulation of T-helper 1 type immune response iron ion transmembrane transporter activity manganese ion transmembrane transporter activity lysosome late endosome plasma membrane integral component of plasma membrane ion transport iron ion transport manganese ion transport cellular cadmium ion homeostasis cellular iron ion homeostasis phagocytosis inflammatory response vacuolar acidification response to bacterium endosome membrane positive regulation of gene expression cadmium ion transmembrane transporter activity nitrite transport membrane integral component of membrane antimicrobial humoral response metal ion transport phagocytic vesicle membrane late endosome membrane activation of protein kinase activity response to lipopolysaccharide interleukin-2 production interleukin-3 production positive regulation of interferon-gamma production response to interferon-gamma iron ion transmembrane transport wound healing macrophage activation defense response to bacterium protein homodimerization activity defense response to protozoan neutrophil degranulation MHC class II biosynthetic process cell redox homeostasis respiratory burst positive regulation of transcription from RNA polymerase II promoter metal ion transmembrane transporter activity transition metal ion transmembrane transporter activity antigen processing and presentation of peptide antigen mRNA stabilization positive regulation of phagocytosis defense response to Gram-negative bacterium metal ion:proton antiporter activity iron ion homeostasis multicellular organismal iron ion homeostasis cadmium ion transmembrane transport tertiary granule membrane divalent metal ion export manganese ion transmembrane transport ficolin-1-rich granule membrane L-arginine transport  uc002vhv.1 uc002vhv.2 uc002vhv.3 uc002vhv.4 
ENST00000233242.5 APOB ENST00000233242.5 Homo sapiens apolipoprotein B (APOB), mRNA. (from RefSeq NM_000384) APOB_HUMAN ENST00000233242.1 ENST00000233242.2 ENST00000233242.3 ENST00000233242.4 NM_000384 O00502 P04114 P78479 P78480 P78481 Q13779 Q13785 Q13786 Q13787 Q13788 Q4ZG63 Q53QC8 Q7Z600 Q9UMN0 uc002red.1 uc002red.2 uc002red.3 This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X04506.1, HM487065.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233242.5/ ENSP00000233242.1 RefSeq Select criteria :: based on single protein-coding transcript undergoes RNA editing :: PMID: 16920700, 11727199 ##RefSeq-Attributes-END## Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor. Interacts with PCSK9. Cytoplasm. Secreted. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level). Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle. Modified_positions=2180; Note=The stop codon (UAA) at position 2180 is created by RNA editing. Apo B-48, derived from the fully edited RNA, is produced only in the intestine and is found in chylomicrons. Apo B-48 is a shortened form of apo B-100 which lacks the LDL-receptor region. The unedited version (apo B- 100) is produced by the liver and is found in the VLDL and LDL. Defects in APOB are a cause of familial hypobetalipoproteinemia type 1 (FHBL1) [MIM:107730]. A disorder characterized by highly reduced plasma concentrations of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. Defects in APOB are a cause of familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]. FDB is a dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia. Contains 1 vitellogenin domain. Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOB"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOB"; Name=Wikipedia; Note=Apolipoprotein B entry; URL="http://en.wikipedia.org/wiki/Apolipoprotein_B"; retinoid metabolic process in utero embryonic development toll-like receptor signaling pathway lipid transporter activity protein binding phospholipid binding extracellular region extracellular space cytoplasm early endosome endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane smooth endoplasmic reticulum cytosol plasma membrane lipid metabolic process triglyceride mobilization lipid transport receptor-mediated endocytosis spermatogenesis nervous system development heparin binding steroid metabolic process cholesterol metabolic process fertilization response to virus response to carbohydrate post-embryonic development endosome membrane response to organic substance response to selenium ion positive regulation of gene expression positive regulation of macrophage derived foam cell differentiation positive regulation of lipid storage positive regulation of cholesterol storage vesicle membrane lipid catabolic process triglyceride catabolic process cholesterol transport flagellated sperm motility clathrin-coated endocytic vesicle membrane endosome lumen vesicle lumen response to estradiol response to lipopolysaccharide cholesterol efflux mature chylomicron chylomicron remnant very-low-density lipoprotein particle low-density lipoprotein particle intermediate-density lipoprotein particle high-density lipoprotein particle chylomicron remodeling low-density lipoprotein particle remodeling chylomicron assembly very-low-density lipoprotein particle assembly chylomicron remnant clearance low-density lipoprotein particle clearance very-low-density lipoprotein particle clearance lipase binding lipoprotein metabolic process lipoprotein biosynthetic process lipoprotein catabolic process chylomicron cholesterol homeostasis lipoprotein transport neuronal cell body lysosomal lumen intracellular membrane-bounded organelle post-translational protein modification cellular protein metabolic process regulation of cholesterol biosynthetic process artery morphogenesis low-density lipoprotein particle receptor binding leukocyte migration membrane organization extracellular exosome endoplasmic reticulum exit site cellular response to tumor necrosis factor cellular response to prostaglandin stimulus endocytic vesicle lumen  uc002red.1 uc002red.2 uc002red.3 
ENST00000233330.6 RTKN ENST00000233330.6 Homo sapiens rhotekin (RTKN), transcript variant 3, mRNA. (from RefSeq NM_001015056) ENST00000233330.1 ENST00000233330.2 ENST00000233330.3 ENST00000233330.4 ENST00000233330.5 NM_001015056 Q8WVN1 Q96PT6 Q9BST9 Q9HB05 RTKN1 RTKN_HUMAN uc002sld.1 uc002sld.2 uc002sld.3 uc002sld.4 This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures. Interacts via its C-terminal region with the TAX1BP3 PDZ domain. This interaction facilitates Rho-mediated activation of the c-Fos serum response element (SRE). Interacts with SEPT9. Specifically binds to GTP-bound RHOA, RHOB and RHOC and inhibits their GTPase activity. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BST9-1; Sequence=Displayed; Name=2; IsoId=Q9BST9-2; Sequence=VSP_052004; Note=No experimental confirmation available; Name=3; IsoId=Q9BST9-3; Sequence=VSP_052005; Note=Incomplete sequence; Highly expressed in prostate, moderately in kidney, heart, brain, spleen, testis, placenta, small intestine, pancreas, skeletal muscle and peripheral blood leukocytes, and weakly in ovary, colon and thymus. Weakly expressed in all normal cell lines tested. Overexpressed in various cancer cell lines. Contains 1 PH domain. Contains 1 REM (Hr1) repeat. Sequence=AAL16767.1; Type=Frameshift; Positions=15, 20; nucleotide binding mitotic cytokinesis actomyosin contractile ring assembly GTPase inhibitor activity protein binding GTP binding cellular_component actomyosin contractile ring cytosol apoptotic process signal transduction Rho protein signal transduction Rho GTPase binding GTP-Rho binding cortical cytoskeleton organization septin ring organization septin cytoskeleton organization negative regulation of GTPase activity regulation of apoptotic process protein localization to actomyosin contractile ring involved in mitotic cytokinesis  uc002sld.1 uc002sld.2 uc002sld.3 uc002sld.4 
ENST00000233331.12 INO80B ENST00000233331.12 Homo sapiens INO80 complex subunit B (INO80B), mRNA. (from RefSeq NM_031288) ENST00000233331.1 ENST00000233331.10 ENST00000233331.11 ENST00000233331.2 ENST00000233331.3 ENST00000233331.4 ENST00000233331.5 ENST00000233331.6 ENST00000233331.7 ENST00000233331.8 ENST00000233331.9 HMGA1L4 IN80B_HUMAN NM_031288 PAPA1 Q9C086 ZNHIT4 uc002slg.1 uc002slg.2 uc002slg.3 uc002slg.4 This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]. ##Evidence-Data-START## Transcript exon combination :: BC064425.1, ERR279845.3562.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233331.12/ ENSP00000233331.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Induces growth and cell cycle arrests at the G1 phase of the cell cycle. Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Interacts with RP9. P18065:IGFBP2; NbExp=4; IntAct=EBI-715611, EBI-2504392; Nucleus. Nucleus, nucleolus. Contains 1 HIT-type zinc finger. Sequence=BAB21111.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding nucleus nucleoplasm nucleolus DNA repair DNA recombination chromatin remodeling cellular response to DNA damage stimulus protein deubiquitination Ino80 complex metal ion binding  uc002slg.1 uc002slg.2 uc002slg.3 uc002slg.4 
ENST00000233336.7 TTL ENST00000233336.7 Homo sapiens tubulin tyrosine ligase (TTL), transcript variant 1, mRNA. (from RefSeq NM_153712) ENST00000233336.1 ENST00000233336.2 ENST00000233336.3 ENST00000233336.4 ENST00000233336.5 ENST00000233336.6 NM_153712 Q585T3 Q7Z302 Q8N426 Q8NG68 TTL_HUMAN uc002thu.1 uc002thu.2 uc002thu.3 uc002thu.4 uc002thu.5 TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.85951.1, SRR1803616.219745.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233336.7/ ENSP00000233336.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the post-translational addition of a tyrosine to the C-terminal end of detyrosinated alpha-tubulin (By similarity). ATP + detyrosinated alpha-tubulin + L-tyrosine = alpha-tubulin + ADP + phosphate. Magnesium (By similarity). Potassium (By similarity). Monomer (By similarity). Belongs to the tubulin--tyrosine ligase family. Contains 1 TTL domain. nucleotide binding microtubule cytoskeleton organization tubulin-tyrosine ligase activity ATP binding cell cellular protein modification process ligase activity C-terminal protein-tyrosinylation regulation of axon extension positive regulation of mitotic cell cycle regulation of metaphase plate congression  uc002thu.1 uc002thu.2 uc002thu.3 uc002thu.4 uc002thu.5 
ENST00000233379.9 FAHD2A ENST00000233379.9 Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA. (from RefSeq NM_016044) CGI-105 ENST00000233379.1 ENST00000233379.2 ENST00000233379.3 ENST00000233379.4 ENST00000233379.5 ENST00000233379.6 ENST00000233379.7 ENST00000233379.8 FAH2A_HUMAN NM_016044 Q96GK7 Q9Y3B0 uc002sut.1 uc002sut.2 uc002sut.3 May have hydrolase activity (By similarity). Calcium (Probable). Magnesium (Probable). Belongs to the FAH family. catalytic activity hydrolase activity metal ion binding  uc002sut.1 uc002sut.2 uc002sut.3 
ENST00000233468.5 SF3B6 ENST00000233468.5 Homo sapiens splicing factor 3b subunit 6 (SF3B6), mRNA. (from RefSeq NM_016047) CGI-110 ENST00000233468.1 ENST00000233468.2 ENST00000233468.3 ENST00000233468.4 HSPC175 HT006 NM_016047 PM14_HUMAN Q9Y3B4 SF3B14 uc002rev.1 uc002rev.2 uc002rev.3 uc002rev.4 uc002rev.5 This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.172119.1, SRR1163657.34312.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233468.5/ ENSP00000233468.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Necessary for the splicing of pre-mRNA. Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing. Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively. Component of the splicing factor SF3b complex. Interacts with SF3B1/SF3b155. Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Nucleus (Potential). Contains 1 RRM (RNA recognition motif) domain. mRNA splicing, via spliceosome blastocyst formation nucleic acid binding RNA binding mRNA binding protein binding nucleus nucleoplasm spliceosomal complex U12-type spliceosomal complex mRNA processing RNA splicing  uc002rev.1 uc002rev.2 uc002rev.3 uc002rev.4 uc002rev.5 
ENST00000233505.12 CENPA ENST00000233505.12 Homo sapiens centromere protein A (CENPA), transcript variant 2, mRNA. (from RefSeq NM_001042426) CENPA_HUMAN D6W544 ENST00000233505.1 ENST00000233505.10 ENST00000233505.11 ENST00000233505.2 ENST00000233505.3 ENST00000233505.4 ENST00000233505.5 ENST00000233505.6 ENST00000233505.7 ENST00000233505.8 ENST00000233505.9 NM_001042426 P49450 Q53T74 Q9BVW2 uc002rhs.1 uc002rhs.2 uc002rhs.3 uc002rhs.4 Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]. Histone H3-like variant which exclusively replaces conventional H3 in the nucleosome core of centromeric chromatin at the inner plate of the kinetochore. Required for recruitment and assembly of kinetochore proteins, mitotic progression and chromosome segregation. May serve as an epigenetic mark that propagates centromere identity through replication and cell division. The CENPA-H4 heterotetramer can bind DNA by itself (in vitro). Forms a nucleosome-like histone octamer containing two molecules each of H2A, H2B, CENPA and H4 assembled in one CENPA-H4 heterotetramer and two H2A-H2B heterodimers. Nucleosomes containing CENPA also contain histone H2A variants such as macroH2A H2AFY and H2A.Z/H2AFZ. The CENPA-H4 heterotetramer is more compact and structurally more rigid than corresponding H3-H4 heterotetramers. Heterotrimer composed of HJURP, CENPA and histone H4, where HJURP interacts with the dimer formed by CENPA and histone H4 and prevents tetramerization of CENPA and H4. Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU. Interacts (via CATD domain) with HJURP; the interaction is direct and is required for its localization to centromeres. Interacts with CENPC, CENPN and CENPT; interaction is direct. Interacts directly with herpes virus HSV-1 ICP0 protein. Part of a centromere complex consisting of CENPA, CENPT and CENPW. P62805:HIST2H4B; NbExp=4; IntAct=EBI-1751979, EBI-302023; Q8NCD3:HJURP; NbExp=14; IntAct=EBI-1751979, EBI-719429; Nucleus. Chromosome, centromere, kinetochore. Note=Localizes exclusively in the kinetochore domain of centromeres. Occupies a compact domain at the inner kinetochore plate stretching across 2 thirds of the length of the constriction but encompassing only one third of the constriction width and height. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49450-1; Sequence=Displayed; Name=2; IsoId=P49450-2; Sequence=VSP_020430; Note=No experimental confirmation available; The CATD (CENPA targeting domain) region is responsible for the more compact structure of nucleosomes containing CENPA and is necessary and sufficient to mediate the localization into centromeres. Ubiquitinated (Probable). Interaction with herpes virus HSV-1 ICP0 protein, leads to its degradation by the proteasome pathway. Phosphorylation of Ser-7 by AURKA and AURKB during prophase is required for localization of AURKA and AURKB at inner centromere and is essential for kinetochore function. Initial phosphorylation during prophase is mediated by AURKA and is maintained by AURKB. Poly-ADP-ribosylated by PARP1 (By similarity). Antibodies against CENPA are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins. Belongs to the histone H3 family. establishment of mitotic spindle orientation mitotic cytokinesis chromosome, centromeric region kinetochore condensed chromosome kinetochore condensed nuclear chromosome kinetochore condensed nuclear chromosome, centromeric region nucleosome nuclear nucleosome condensed chromosome inner kinetochore DNA binding chromatin binding protein binding nucleus nucleoplasm chromosome cytosol cell cycle viral process nuclear pericentric heterochromatin CENP-A containing nucleosome assembly protein heterodimerization activity cell division kinetochore assembly protein localization to chromosome, centromeric region  uc002rhs.1 uc002rhs.2 uc002rhs.3 uc002rhs.4 
ENST00000233535.9 SLC30A3 ENST00000233535.9 Homo sapiens solute carrier family 30 member 3 (SLC30A3), transcript variant 1, mRNA. (from RefSeq NM_003459) ENST00000233535.1 ENST00000233535.2 ENST00000233535.3 ENST00000233535.4 ENST00000233535.5 ENST00000233535.6 ENST00000233535.7 ENST00000233535.8 NM_003459 Q8TC03 Q99726 ZNT3 ZNT3_HUMAN uc002rjk.1 uc002rjk.2 uc002rjk.3 uc002rjk.4 uc002rjk.5 Involved in accumulation of zinc in synaptic vesicles (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein (Probable). Cell junction, synapse, synaptosome (By similarity). Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. zinc ion transmembrane transporter activity protein binding cytoplasm lysosome lysosomal membrane endosome late endosome plasma membrane integral component of plasma membrane ion transport cation transport zinc II ion transport synaptic vesicle cation transmembrane transporter activity response to zinc ion zinc-transporting ATPase activity membrane integral component of membrane cell junction integral component of synaptic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle late endosome membrane neuron projection synapse positive regulation of transport transmembrane transport regulation of sequestering of zinc ion zinc II ion transmembrane transport glutamatergic synapse  uc002rjk.1 uc002rjk.2 uc002rjk.3 uc002rjk.4 uc002rjk.5 
ENST00000233545.6 MPV17 ENST00000233545.6 Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. (from UniProt P39210) BC001115 D6W555 ENST00000233545.1 ENST00000233545.2 ENST00000233545.3 ENST00000233545.4 ENST00000233545.5 MPV17_HUMAN P39210 Q53SY2 Q96B08 uc002rjr.1 uc002rjr.2 uc002rjr.3 Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. Mitochondrion inner membrane; Multi-pass membrane protein. Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Defects in MPV17 are the cause of mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810]. A disease characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Belongs to the peroxisomal membrane protein PXMP2/4 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPV17"; mitochondrial genome maintenance molecular_function cytoplasm mitochondrion mitochondrial inner membrane peroxisome peroxisomal membrane cytosol protein targeting to peroxisome membrane integral component of membrane glomerular basement membrane development cellular response to reactive oxygen species homeostatic process inner ear development regulation of reactive oxygen species metabolic process  uc002rjr.1 uc002rjr.2 uc002rjr.3 
ENST00000233557.7 NRBP1 ENST00000233557.7 Homo sapiens nuclear receptor binding protein 1 (NRBP1), transcript variant 2, mRNA. (from RefSeq NM_001321357) B3KV40 BCON3 D6W558 ENST00000233557.1 ENST00000233557.2 ENST00000233557.3 ENST00000233557.4 ENST00000233557.5 ENST00000233557.6 NM_001321357 NRBP NRBP_HUMAN Q53FZ5 Q96SU3 Q9UHY1 uc002rko.1 uc002rko.2 uc002rko.3 uc002rko.4 May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication. Homodimer. Binds to MLF1, recruiting a serine kinase which phosphorylates both itself and MLF1. Phosphorylated MLF1 binds to YWHAZ and is retained in the cytoplasm (By similarity). P14340:- (xeno); NbExp=4; IntAct=EBI-749731, EBI-465733; P60763:RAC3; NbExp=3; IntAct=EBI-749731, EBI-767084; Cytoplasm, cell cortex. Endomembrane system. Cell projection, lamellipodium. Note=Colocalizes with activated RAC3 to endomembranes and at the cell periphery in lamellipodia. Ubiquitously expressed in all tissues examined with high levels in the testis. The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Contains 1 protein kinase domain. Author states that kinase activity observed in PubMed:11956649 may be due to sample contamination. This protein is predicted to be catalytically inactive. protein binding ATP binding nucleoplasm cytoplasm cell cortex transcription initiation from RNA polymerase II promoter protein phosphorylation ER to Golgi vesicle-mediated transport endomembrane system membrane lamellipodium intracellular signal transduction protein homodimerization activity cell projection protein serine/threonine kinase activity  uc002rko.1 uc002rko.2 uc002rko.3 uc002rko.4 
ENST00000233573.6 ITGA4 ENST00000233573.6 Membrane; Single-pass type I membrane protein (By similarity). (from UniProt E7EP60) E7EP60 E7EP60_HUMAN ENST00000233573.1 ENST00000233573.2 ENST00000233573.3 ENST00000233573.4 ENST00000233573.5 FW340057 uc061qhz.1 Membrane; Single-pass type I membrane protein (By similarity). Belongs to the integrin alpha chain family. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. cell adhesion integrin-mediated signaling pathway integrin complex membrane integral component of membrane  uc061qhz.1 
ENST00000233575.7 SNX17 ENST00000233575.7 Homo sapiens sorting nexin 17 (SNX17), transcript variant 5, non-coding RNA. (from RefSeq NR_049782) ENST00000233575.1 ENST00000233575.2 ENST00000233575.3 ENST00000233575.4 ENST00000233575.5 ENST00000233575.6 KIAA0064 NR_049782 Q15036 Q53HN7 Q6IAS3 SNX17_HUMAN uc002rkg.1 uc002rkg.2 uc002rkg.3 uc002rkg.4 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]. May be involved in several stages of intracellular protein trafficking. Plays a role in the sorting of endocytosed LRP1 and APP, and prevents their degradation. Required for maintenance of normal cell surface levels of APP and LRP1. Interacts with membranes containing phosphatidylinositol 3- phosphate (PtdIns(3P)). Interacts with APP (via cytoplasmic YXNPXY motif). Interacts with KIF1B (By similarity). Interacts with the C-termini of P-selectin, PTC, LDLR, VLDLR, LRP1 and LRP8. Interacts with KRIT1 (via N-terminus). P16333:NCK1; NbExp=3; IntAct=EBI-1752620, EBI-389883; P19174:PLCG1; NbExp=2; IntAct=EBI-1752620, EBI-79387; Cytoplasm. Early endosome. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. The PX domain mediates specific binding to phosphatidylinositol 3-phosphate (PtdIns(P3)). Required for association with endosomes. Belongs to the sorting nexin family. Contains 1 PX (phox homology) domain. Contains 1 Ras-associating domain. Sequence=BAA06542.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; cardiac septum development receptor binding protein binding cytoplasm endosome early endosome Golgi apparatus cytosol cholesterol catabolic process intracellular protein transport receptor-mediated endocytosis signal transduction protein C-terminus binding lipid binding endosome membrane protein transport membrane endosomal transport regulation of endocytosis cytoplasmic vesicle membrane cytoplasmic vesicle endocytic recycling macromolecular complex phosphatidylinositol binding aorta development intracellular membrane-bounded organelle low-density lipoprotein particle receptor binding coronary vasculature development retrograde transport, endosome to plasma membrane  uc002rkg.1 uc002rkg.2 uc002rkg.3 uc002rkg.4 
ENST00000233596.8 REEP6 ENST00000233596.8 Homo sapiens receptor accessory protein 6 (REEP6), transcript variant 2, mRNA. (from RefSeq NM_138393) B2RE01 C19orf32 D6W5Z0 DP1L1 ENST00000233596.1 ENST00000233596.2 ENST00000233596.3 ENST00000233596.4 ENST00000233596.5 ENST00000233596.6 ENST00000233596.7 NM_138393 Q96HR9 Q96LM0 REEP6_HUMAN uc002ltc.1 uc002ltc.2 uc002ltc.3 uc002ltc.4 uc002ltc.5 The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]. May enhance the cell surface expression of odorant receptors (By similarity). Interacts with odorant receptor proteins (By similarity). Membrane; Multi-pass membrane protein (By similarity). Belongs to the DP1 family. photoreceptor inner segment protein binding nucleus endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane clathrin-coated vesicle membrane cytoplasmic vesicle regulation of intracellular transport rod spherule apical part of cell detection of light stimulus involved in visual perception  uc002ltc.1 uc002ltc.2 uc002ltc.3 uc002ltc.4 uc002ltc.5 
ENST00000233607.6 APC2 ENST00000233607.6 Promotes rapid degradation of CTNNB1 and may function as a tumor suppressor. May function in Wnt signaling. (from UniProt O95996) AB012162 APC2_HUMAN APCL ENST00000233607.1 ENST00000233607.2 ENST00000233607.3 ENST00000233607.4 ENST00000233607.5 O95996 Q05BW4 Q9UBZ1 Q9UEM8 Q9UQJ8 Q9UQJ9 Q9Y632 uc002lsr.1 Promotes rapid degradation of CTNNB1 and may function as a tumor suppressor. May function in Wnt signaling. Interacts with PSRC1 (By similarity). Interacts with APC, CTNNB1, MAPRE1, MAPRE3, TP53BP2 and possibly with AXIN2. Cytoplasm, cytoskeleton. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associated with actin filaments and the microtubule network. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95996-1; Sequence=Displayed; Name=2; IsoId=O95996-2; Sequence=VSP_030106; Name=3; IsoId=O95996-3; Sequence=VSP_030107; Widely expressed (at protein level). Specifically expressed in the CNS. Expressed in fetal brain. Belongs to the adenomatous polyposis coli (APC) family. Contains 6 ARM repeats. Sequence=AAD28183.1; Type=Frameshift; Positions=1322, 1338; Sequence=AAF01784.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=CAA10317.1; Type=Erroneous initiation; Sequence=CAB61207.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; microtubule cytoskeleton organization cell fate specification protein binding cytoplasm Golgi apparatus cytosol cytoskeleton microtubule actin filament negative regulation of microtubule depolymerization pattern specification process beta-catenin binding microtubule binding microtubule cytoskeleton Wnt signaling pathway catenin complex cell migration negative regulation of Wnt signaling pathway midbody beta-catenin destruction complex lamellipodium membrane intercellular bridge gamma-catenin binding regulation of cell differentiation positive regulation of protein catabolic process perinuclear region of cytoplasm negative regulation of canonical Wnt signaling pathway activation of GTPase activity postsynapse cytoplasmic microtubule filamentous actin  uc002lsr.1 
ENST00000233609.8 RPS15 ENST00000233609.8 ribosomal protein S15 (from HGNC RPS15) A0A0B4J2B4 BC105810 ENST00000233609.1 ENST00000233609.2 ENST00000233609.3 ENST00000233609.4 ENST00000233609.5 ENST00000233609.6 ENST00000233609.7 uc060rbb.1  uc060rbb.1 
ENST00000233612.8 GCA ENST00000233612.8 Homo sapiens grancalcin (GCA), transcript variant 7, mRNA. (from RefSeq NM_001330271) ENST00000233612.1 ENST00000233612.2 ENST00000233612.3 ENST00000233612.4 ENST00000233612.5 ENST00000233612.6 ENST00000233612.7 H7BXD5 H7BXD5_HUMAN NM_001330271 uc061pbf.1 This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.300717.1, AK295413.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. calcium ion binding cytosol  uc061pbf.1 
ENST00000233615.7 WBP1 ENST00000233615.7 Homo sapiens WW domain binding protein 1 (WBP1), mRNA. (from RefSeq NM_012477) B2RE02 ENST00000233615.1 ENST00000233615.2 ENST00000233615.3 ENST00000233615.4 ENST00000233615.5 ENST00000233615.6 NM_012477 O95637 Q96G27 WBP1_HUMAN uc002slj.1 uc002slj.2 uc002slj.3 uc002slj.4 The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]. ##Evidence-Data-START## Transcript exon combination :: BC071626.1, BC010012.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233615.7/ ENSP00000233615.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Interacts with NEDD4 (By similarity). Binds to the WW domain of YAP1, WWP1 and WWP2. Interacts with WWOX. Expressed in most tissues but at significantly lower levels in placenta, lung, liver, and kidney. The WW-binding 2 motif mediates interaction with WWOX. Both WW-binding motifs mediate interaction with NEDD4 (By similarity). Sequence=AAD10950.1; Type=Erroneous initiation; protein binding cellular_component biological_process WW domain binding  uc002slj.1 uc002slj.2 uc002slj.3 uc002slj.4 
ENST00000233623.11 TTC31 ENST00000233623.11 Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 20, non-coding RNA. (from RefSeq NR_164773) ENST00000233623.1 ENST00000233623.10 ENST00000233623.2 ENST00000233623.3 ENST00000233623.4 ENST00000233623.5 ENST00000233623.6 ENST00000233623.7 ENST00000233623.8 ENST00000233623.9 NR_164773 Q49AM3 Q4KN40 Q53FD4 Q9H9F7 TTC31_HUMAN uc002slt.1 uc002slt.2 uc002slt.3 uc002slt.4 uc002slt.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q49AM3-1; Sequence=Displayed; Name=2; IsoId=Q49AM3-2; Sequence=VSP_023990, VSP_023991; Contains 3 TPR repeats.  uc002slt.1 uc002slt.2 uc002slt.3 uc002slt.4 uc002slt.5 
ENST00000233627.14 NDUFS7 ENST00000233627.14 Homo sapiens NADH:ubiquinone oxidoreductase core subunit S7 (NDUFS7), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_024407) ENST00000233627.1 ENST00000233627.10 ENST00000233627.11 ENST00000233627.12 ENST00000233627.13 ENST00000233627.2 ENST00000233627.3 ENST00000233627.4 ENST00000233627.5 ENST00000233627.6 ENST00000233627.7 ENST00000233627.8 ENST00000233627.9 NM_024407 Q7LD69 Q7LD69_HUMAN uc002lse.1 uc002lse.2 uc002lse.3 uc002lse.4 uc002lse.5 uc002lse.6 This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK222738.1, SRR1163657.243667.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000233627.14/ ENSP00000233627.9 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Belongs to the complex I 20 kDa subunit family. protease binding NADH dehydrogenase (ubiquinone) activity neuron projection neuronal cell body metal ion binding quinone binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding oxidation-reduction process synaptic membrane  uc002lse.1 uc002lse.2 uc002lse.3 uc002lse.4 uc002lse.5 uc002lse.6 
ENST00000233630.11 PCGF1 ENST00000233630.11 Homo sapiens polycomb group ring finger 1 (PCGF1), mRNA. (from RefSeq NM_032673) ENST00000233630.1 ENST00000233630.10 ENST00000233630.2 ENST00000233630.3 ENST00000233630.4 ENST00000233630.5 ENST00000233630.6 ENST00000233630.7 ENST00000233630.8 ENST00000233630.9 NM_032673 NSPC1 PCGF1_HUMAN Q7Z506 Q9BSM1 RNF68 uc002slz.1 uc002slz.2 uc002slz.3 uc002slz.4 uc002slz.5 PCGF1 is a mammalian homolog of the Drosophila polycomb group genes, which act as transcriptional repressors to regulate anterior-posterior patterning in early embryonic development (Nunes et al., 2001 [PubMed 11287196]). See also PCGF2 (MIM 600346).[supplied by OMIM, Aug 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.331340.1, SRR1163655.595382.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233630.11/ ENSP00000233630.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the Polycomb group (PcG) multiprotein BCOR complex, a complex required to maintain the transcriptionally repressive state of some genes, such as BCL6 and the cyclin- dependent kinase inhibitor, CDKN1A. Transcriptional repressor that may be targeted to the DNA by BCL6; this transcription repressor activity may be related to PKC signaling pathway. Represses CDKN1A expression by binding to its promoter, and this repression is dependent on the retinoic acid response element (RARE element). Promotes cell cycle progression and enhances cell proliferation as well. May have a positive role in tumor cell growth by down- regulating CDKN1A. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Component of repressive BCOR complex containing Polycomb group subcomplex at least composed of RYBP, RING1 and RNF2/RING2. Specifically interacts with BCOR, RING1 and RNF2/RING2. Component of a PRC1-like complex. Interacts with CBX6, CBX7 and CBX8. Q6W2J9:BCOR; NbExp=6; IntAct=EBI-749901, EBI-950027; Q9HC52:CBX8; NbExp=2; IntAct=EBI-749901, EBI-712912; Q06587:RING1; NbExp=5; IntAct=EBI-749901, EBI-752313; Q99496:RNF2; NbExp=4; IntAct=EBI-749901, EBI-722416; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSM1-1; Sequence=Displayed; Name=2; IsoId=Q9BSM1-3; Sequence=VSP_036393; Ubiquitous. Contains 1 RING-type zinc finger. Sequence=AAH04952.1; Type=Erroneous initiation; Sequence=AAP97183.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter protein binding nucleus nucleoplasm chromatin silencing regulation of transcription, DNA-templated protein C-terminus binding PcG protein complex PRC1 complex histone H2A monoubiquitination histone H2A-K119 monoubiquitination metal ion binding promoter-specific chromatin binding  uc002slz.1 uc002slz.2 uc002slz.3 uc002slz.4 uc002slz.5 
ENST00000233638.8 TLX2 ENST00000233638.8 Homo sapiens T cell leukemia homeobox 2 (TLX2), mRNA. (from RefSeq NM_016170) ENST00000233638.1 ENST00000233638.2 ENST00000233638.3 ENST00000233638.4 ENST00000233638.5 ENST00000233638.6 ENST00000233638.7 HOX11L1 NCX NM_016170 O43763 Q9UD56 Q9UQ48 TLX2_HUMAN uc002smb.1 uc002smb.2 uc002smb.3 uc002smb.4 This gene is a member of an orphan homeobox-containing transcription factor family. Studies of the mouse ortholog have shown that the encoded protein is crucial for the development of the enteric nervous system; in humans, loss-of-function may play a role in tumorigenesis of gastrointestinal stromal tumors. [provided by RefSeq, May 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC006356.2, AB008501.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2161674 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233638.8/ ENSP00000233638.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcription activator that binds DNA elements with the consensus sequence 5'-CGGTAATTGG-3'. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity). Nucleus (Probable). Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding mesoderm formation DNA binding transcription factor activity, sequence-specific DNA binding cellular_component nucleus cytoplasm regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter enteric nervous system development negative regulation of dendrite morphogenesis  uc002smb.1 uc002smb.2 uc002smb.3 uc002smb.4 
ENST00000233668.10 DOK1 ENST00000233668.10 Homo sapiens docking protein 1 (DOK1), transcript variant 1, mRNA. (from RefSeq NM_001381) DOK1_HUMAN ENST00000233668.1 ENST00000233668.2 ENST00000233668.3 ENST00000233668.4 ENST00000233668.5 ENST00000233668.6 ENST00000233668.7 ENST00000233668.8 ENST00000233668.9 NM_001381 O43204 Q53TY2 Q99704 Q9UHG6 uc002sms.1 uc002sms.2 uc002sms.3 uc002sms.4 uc002sms.5 The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK055944.1, SRR1163655.92502.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3. Interacts with ABL1 (By similarity). Interacts with RasGAP and INPP5D/SHIP1. Interacts directly with phosphorylated ITGB3. Q9Q2G4:ORF (xeno); NbExp=2; IntAct=EBI-1384360, EBI-6248094; Isoform 1: Cytoplasm. Isoform 3: Cytoplasm, perinuclear region. Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=1; Synonyms=p62Dok1; IsoId=Q99704-1; Sequence=Displayed; Name=2; Synonyms=p22Dokdel; IsoId=Q99704-2; Sequence=VSP_003852, VSP_003853; Name=3; Synonyms=p44Dok; IsoId=Q99704-3; Sequence=VSP_038224; Note=Produced by alternative initiation at Met-140 of isoform 1. Acetylated on Met-1; Expressed in pancreas, heart, leukocyte and spleen. Expressed in both resting and activated peripheral blood T-cells. The PTB domain mediates receptor interaction. Constitutively tyrosine-phosphorylated. Phosphorylated by TEC (By similarity). Phosphorylated by LYN (By similarity). Phosphorylated on tyrosine residues by the insulin receptor kinase. Results in the negative regulation of the insulin signaling pathway. Isoform 3 contains a N-acetylmethionine at position 1. Belongs to the DOK family. Type A subfamily. Contains 1 IRS-type PTB domain. Contains 1 PH domain. protein binding nucleus cytoplasm cytosol signal transduction cell surface receptor signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway Ras protein signal transduction axon guidance intracellular signal transduction macrophage colony-stimulating factor signaling pathway positive regulation of epidermal growth factor receptor signaling pathway perinuclear region of cytoplasm  uc002sms.1 uc002sms.2 uc002sms.3 uc002sms.4 uc002sms.5 
ENST00000233699.8 POLE4 ENST00000233699.8 DNA polymerase epsilon 4, accessory subunit (from HGNC POLE4) BC031331 ENST00000233699.1 ENST00000233699.2 ENST00000233699.3 ENST00000233699.4 ENST00000233699.5 ENST00000233699.6 ENST00000233699.7 uc061lad.1  uc061lad.1 
ENST00000233710.4 ACADL ENST00000233710.4 Homo sapiens acyl-CoA dehydrogenase long chain (ACADL), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001608) ACADL_HUMAN B2R8T3 ENST00000233710.1 ENST00000233710.2 ENST00000233710.3 NM_001608 P28330 Q8IUN8 uc002vdz.1 uc002vdz.2 uc002vdz.3 uc002vdz.4 uc002vdz.5 uc002vdz.6 The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.176300.1, SRR1803616.261303.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000233710.4/ ENSP00000233710.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Long-chain-acyl-CoA + electron-transfer flavoprotein = long-chain-2,3-dehydroacyl-CoA + reduced electron- transfer flavoprotein. FAD. Lipid metabolism; mitochondrial fatty acid beta- oxidation. Homotetramer. Mitochondrion matrix. Defects in ACADL are a cause of acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]. An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. Belongs to the acyl-CoA dehydrogenase family. fatty-acyl-CoA binding temperature homeostasis acyl-CoA dehydrogenase activity long-chain-acyl-CoA dehydrogenase activity mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation palmitoyl-CoA oxidase activity oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors carnitine metabolic process, CoA-linked mitochondrial membrane fatty acid beta-oxidation using acyl-CoA dehydrogenase carnitine catabolic process long-chain fatty acid catabolic process cellular lipid catabolic process negative regulation of fatty acid biosynthetic process negative regulation of fatty acid oxidation flavin adenine dinucleotide binding protein homotetramerization oxidation-reduction process regulation of cholesterol metabolic process  uc002vdz.1 uc002vdz.2 uc002vdz.3 uc002vdz.4 uc002vdz.5 uc002vdz.6 
ENST00000233712.5 EVA1A ENST00000233712.5 Homo sapiens eva-1 homolog A, regulator of programmed cell death (EVA1A), transcript variant 2, mRNA. (from RefSeq NM_032181) D6W5J3 ENST00000233712.1 ENST00000233712.2 ENST00000233712.3 ENST00000233712.4 F176A_HUMAN FAM176A NM_032181 Q9H8M9 Q9HC41 SP24 TMEM166 uc002snk.1 Acts as a regulator of programmed cell death, mediating both autophagy and apoptosis. Endoplasmic reticulum membrane; Single-pass membrane protein. Lysosome membrane; Single-pass membrane protein. Expressed in lung, kidney, liver, pancreas, placenta, but not in heart and skeletal muscle. Belongs to the FAM176 family. lysosome lysosomal membrane endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane plasma membrane autophagy apoptotic process membrane integral component of membrane intracellular membrane-bounded organelle post-translational protein modification cellular protein metabolic process  uc002snk.1 
ENST00000233714.8 LANCL1 ENST00000233714.8 LanC like 1 (from HGNC LANCL1) ENST00000233714.1 ENST00000233714.2 ENST00000233714.3 ENST00000233714.4 ENST00000233714.5 ENST00000233714.6 ENST00000233714.7 Q53TN2 Q53TN2_HUMAN Y11395 hCG_16716 uc010zjh.1 uc010zjh.2 uc010zjh.3 catalytic activity glutathione transferase activity regulation of neuron apoptotic process regulation of oxidative stress-induced neuron death  uc010zjh.1 uc010zjh.2 uc010zjh.3 
ENST00000233735.2 REG1A ENST00000233735.2 Homo sapiens regenerating family member 1 alpha (REG1A), mRNA. (from RefSeq NM_002909) ENST00000233735.1 NM_002909 P05451 P11379 PSPS PSPS1 Q4ZG28 REG REG1A_HUMAN uc002snz.1 uc002snz.2 uc002snz.3 uc002snz.4 This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: ERR279838.5622.1, AK291981.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233735.2/ ENSP00000233735.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration. Secreted. In pancreatic acinar cells and, in lower levels, in brain. Enhanced expression of PSP-related transcripts and intraneuronal accumulation of PSP-like proteins is found in brain from Alzheimer disease and Down syndrome patients. High expression levels in fetal and infant brains; much lower in adult brains. The composition of the O-linked carbohydrate on Thr-27 is complex and varied. In the crystallographic structure, the attached sugar appears to be N-acetylglucosamine, typical of an intracellular protein, rather than N-acetylgalactosamine. Contains 1 C-type lectin domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Lithostathine A; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_254"; response to hypoxia transmembrane signaling receptor activity receptor binding extracellular region extracellular space cytosol signal transduction midgut development growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of gene expression response to organic cyclic compound phosphatase binding protein phosphatase binding carbohydrate binding growth cone response to nutrient levels dendrite membrane neuronal cell body membrane macromolecular complex wound healing zymogen granule identical protein binding protein homodimerization activity peptidoglycan binding response to peptide hormone cell wall disruption in other organism basal part of cell perinuclear region of cytoplasm protein homooligomerization protein homotetramerization calcium ion homeostasis extracellular exosome oligosaccharide binding liver regeneration response to acetylsalicylate positive regulation of dendrite extension positive regulation of type B pancreatic cell proliferation positive regulation of acinar cell proliferation response to water-immersion restraint stress pancreas regeneration response to growth hormone-releasing hormone response to gastrin cellular response to chemokine cellular response to gastrin  uc002snz.1 uc002snz.2 uc002snz.3 uc002snz.4 
ENST00000233741.9 FANCL ENST00000233741.9 Homo sapiens FA complementation group L (FANCL), transcript variant 2, mRNA. (from RefSeq NM_018062) ENST00000233741.1 ENST00000233741.2 ENST00000233741.3 ENST00000233741.4 ENST00000233741.5 ENST00000233741.6 ENST00000233741.7 ENST00000233741.8 FANCL_HUMAN NM_018062 PHF9 Q6GU60 Q9NW38 uc002rzw.1 uc002rzw.2 uc002rzw.3 uc002rzw.4 uc002rzw.5 uc002rzw.6 This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]. Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. Protein modification; protein ubiquitination. Interacts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. Interacts with FANCI. Interacts (via the RING- type zinc finger) with UBE2T and UBE2W. Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NW38-1; Sequence=Displayed; Name=2; IsoId=Q9NW38-2; Sequence=VSP_041727; The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2 (PubMed:21775430). The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W. Defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL) [MIM:614083]. FANCL is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Contains 1 RING-type zinc finger. Although PubMed:12724401 reports that it contains a PHD- type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity. Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpl.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCL"; ubiquitin-protein transferase activity protein binding nucleus nuclear envelope nucleoplasm cytoplasm DNA repair protein monoubiquitination cellular response to DNA damage stimulus gamete generation protein ubiquitination nuclear body transferase activity ubiquitin protein ligase binding interstrand cross-link repair regulation of cell proliferation intracellular membrane-bounded organelle Fanconi anaemia nuclear complex metal ion binding ubiquitin protein ligase activity  uc002rzw.1 uc002rzw.2 uc002rzw.3 uc002rzw.4 uc002rzw.5 uc002rzw.6 
ENST00000233809.9 IGFBP2 ENST00000233809.9 Homo sapiens insulin like growth factor binding protein 2 (IGFBP2), transcript variant 4, mRNA. (from RefSeq NM_001313993) BP2 ENST00000233809.1 ENST00000233809.2 ENST00000233809.3 ENST00000233809.4 ENST00000233809.5 ENST00000233809.6 ENST00000233809.7 ENST00000233809.8 IBP2 IBP2_HUMAN NM_001313993 P18065 Q14619 Q9UCL3 uc061sgd.1 uc061sgd.2 The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015]. Inhibits IGF-mediated growth and developmental rates. IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Binds IGF2 more than IGF1. Q9C086:INO80B; NbExp=4; IntAct=EBI-2504392, EBI-715611; Secreted. The C-terminus is required for IGF-binding and growth inhibition. O-glycosylated. Contains 1 IGFBP N-terminal domain. Contains 1 thyroglobulin type-1 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igfbp2/"; receptor binding protein binding insulin-like growth factor binding extracellular region extracellular space signal transduction female pregnancy aging response to nutrient response to mechanical stimulus response to lithium ion apical plasma membrane growth factor binding cytoplasmic vesicle insulin-like growth factor I binding insulin-like growth factor II binding response to estradiol response to retinoic acid cellular response to hormone stimulus regulation of growth positive regulation of activated T cell proliferation response to drug regulation of insulin-like growth factor receptor signaling pathway response to estrogen cellular protein metabolic process response to steroid hormone response to glucocorticoid extracellular exosome negative regulation of canonical Wnt signaling pathway  uc061sgd.1 uc061sgd.2 
ENST00000233813.5 IGFBP5 ENST00000233813.5 Homo sapiens insulin like growth factor binding protein 5 (IGFBP5), mRNA. (from RefSeq NM_000599) ENST00000233813.1 ENST00000233813.2 ENST00000233813.3 ENST00000233813.4 IBP5 IBP5_HUMAN NM_000599 P24593 Q5U0A3 uc002vgj.1 uc002vgj.2 uc002vgj.3 uc002vgj.4 uc002vgj.5 uc002vgj.6 IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Secreted. Osteosarcoma, and at lower levels in liver, kidney and brain. Contains 1 IGFBP N-terminal domain. Contains 1 thyroglobulin type-1 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/igfbp5/"; regulation of cell growth osteoblast differentiation fibronectin binding protein binding insulin-like growth factor binding extracellular region extracellular space endoplasmic reticulum lumen signal transduction female pregnancy aging negative regulation of smooth muscle cell migration insulin-like growth factor binding protein complex negative regulation of translation growth factor binding negative regulation of cell migration hair follicle morphogenesis insulin-like growth factor I binding insulin-like growth factor II binding intracellular signal transduction regulation of growth insulin-like growth factor ternary complex glucose homeostasis regulation of insulin-like growth factor receptor signaling pathway positive regulation of insulin-like growth factor receptor signaling pathway negative regulation of insulin-like growth factor receptor signaling pathway post-translational protein modification cellular protein metabolic process type B pancreatic cell proliferation negative regulation of osteoblast differentiation negative regulation of growth lung alveolus development negative regulation of smooth muscle cell proliferation striated muscle cell differentiation positive regulation of protein kinase B signaling mammary gland involution response to growth hormone cellular response to cAMP cellular response to organic cyclic compound negative regulation of muscle tissue development negative regulation of skeletal muscle hypertrophy positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell migration  uc002vgj.1 uc002vgj.2 uc002vgj.3 uc002vgj.4 uc002vgj.5 uc002vgj.6 
ENST00000233826.4 KCNJ13 ENST00000233826.4 Homo sapiens potassium inwardly rectifying channel subfamily J member 13 (KCNJ13), transcript variant 1, mRNA. (from RefSeq NM_002242) A0PGH1 ENST00000233826.1 ENST00000233826.2 ENST00000233826.3 IRK13_HUMAN NM_002242 O60928 O76023 Q53SA1 Q8N3Y4 uc002vtp.1 uc002vtp.2 uc002vtp.3 uc002vtp.4 uc002vtp.5 This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60928-1; Sequence=Displayed; Name=2; Synonyms=Kir7.1S; IsoId=O60928-2; Sequence=VSP_042627, VSP_042628; Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord. Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them. Defects in KCNJ13 are the cause of snowflake vitreoretinal degeneration (SVD) [MIM:193230]. SVD is a developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment. Defects in KCNJ13 are the cause of Leber congenital amaurosis type 16 (LCA16) [MIM:614186]. LCA16 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ13 subfamily. inward rectifier potassium channel activity voltage-gated ion channel activity ion transport potassium ion transport membrane integral component of membrane regulation of ion transmembrane transport potassium ion import across plasma membrane  uc002vtp.1 uc002vtp.2 uc002vtp.3 uc002vtp.4 uc002vtp.5 
ENST00000233836.5 CCT4P2 ENST00000233836.5 chaperonin containing TCP1 subunit 4 pseudogene 2 (from HGNC CCT4P2) ENST00000233836.1 ENST00000233836.2 ENST00000233836.3 ENST00000233836.4 uc287eoj.1  uc287eoj.1 
ENST00000233838.9 GGCX ENST00000233838.9 Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA. (from RefSeq NM_000821) ENST00000233838.1 ENST00000233838.2 ENST00000233838.3 ENST00000233838.4 ENST00000233838.5 ENST00000233838.6 ENST00000233838.7 ENST00000233838.8 GC NM_000821 P38435 Q14415 Q6GU45 VKGC_HUMAN uc002sps.1 uc002sps.2 uc002sps.3 uc002sps.4 uc002sps.5 This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide. [Peptidyl]-4-carboxyglutamate + 2,3- epoxyphylloquinone + H(2)O = [peptidyl]-glutamate + CO(2) + O(2) + phylloquinone. pH dependence: Optimum pH is 7; Monomer. May interact with CALU (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Defects in GGCX are a cause of combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1) [MIM:277450]; also known as multiple coagulation factor deficiency III (MCFD3). VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Defects in GGCX are the cause of pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]. This syndrome is characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. The vitamin K-dependent protein substrates of carboxylase have usually a propeptide that binds to a high- affinity site on the carboxylase. CO(2), O(2) and reduced vitamin K are cosubstrates. Belongs to the vitamin K-dependent gamma-carboxylase family. endoplasmic reticulum endoplasmic reticulum membrane cellular protein modification process blood coagulation gamma-glutamyl carboxylase activity membrane integral component of membrane lyase activity peptidyl-glutamic acid carboxylation  uc002sps.1 uc002sps.2 uc002sps.3 uc002sps.4 uc002sps.5 
ENST00000233840.3 NEU2 ENST00000233840.3 Homo sapiens neuraminidase 2 (NEU2), mRNA. (from RefSeq NM_005383) ENST00000233840.1 ENST00000233840.2 NEUR2_HUMAN NM_005383 Q3KNW4 Q6NTB4 Q9Y3R4 uc010zmn.1 uc010zmn.2 This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069151.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233840.3/ ENSP00000233840.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes sialylated compounds. Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates. Cytoplasm (By similarity). Expressed in skeletal muscle, fetal liver and embryonic carcinoma cell line NT2-D1. Belongs to the glycosyl hydrolase 33 family. Contains 2 BNR repeats. exo-alpha-sialidase activity protein binding cytoplasm lysosome cytosol carbohydrate metabolic process lipid metabolic process glycosphingolipid metabolic process ganglioside catabolic process metabolic process oligosaccharide catabolic process membrane lipid catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds intracellular membrane-bounded organelle cellular oligosaccharide catabolic process exo-alpha-(2->3)-sialidase activity exo-alpha-(2->6)-sialidase activity exo-alpha-(2->8)-sialidase activity catalytic complex  uc010zmn.1 uc010zmn.2 
ENST00000233892.8 MOB4 ENST00000233892.8 Homo sapiens MOB family member 4, phocein (MOB4), transcript variant 2, mRNA. (from RefSeq NM_199482) B4DML0 CGI-95 ENST00000233892.1 ENST00000233892.2 ENST00000233892.3 ENST00000233892.4 ENST00000233892.5 ENST00000233892.6 ENST00000233892.7 MOB3 MOBKL3 NM_199482 PHOCN PHOCN_HUMAN PREI3 Q53SE0 Q7Z4Y6 Q9H2P3 Q9H5J1 Q9Y3A3 Q9Y4T8 uc002uum.1 uc002uum.2 uc002uum.3 uc002uum.4 This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011]. May play a role in membrane trafficking, specifically in membrane budding reactions (By similarity). Binds STRN4 (By similarity). Interacts with DNM1 and EPS15 (By similarity). Interacts with nucleoside diphosphate kinase (By similarity). Binds STRN and STRN3. Part of a ternary complex containing MOB4/PHOCN, STRN and/or STRN3 and PPA2. Q9P2B4:CTTNBP2NL; NbExp=5; IntAct=EBI-713935, EBI-1774273; O43815:STRN; NbExp=3; IntAct=EBI-713935, EBI-1046642; Q9Y228:TRAF3IP3; NbExp=2; IntAct=EBI-713935, EBI-765817; Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Note=In a perinuclear punctate pattern. Associated with membranes and the Golgi stacks. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y3A3-1; Sequence=Displayed; Name=2; IsoId=Q9Y3A3-2; Sequence=VSP_012303; Note=No experimental confirmation available; Name=3; IsoId=Q9Y3A3-3; Sequence=VSP_041091; Phosphorylated on serine residues. Belongs to the MOB1/phocein family. Sequence=AAP97221.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB45697.1; Type=Frameshift; Positions=168; protein binding cytoplasm Golgi apparatus membrane Golgi cisterna membrane metal ion binding perinuclear region of cytoplasm  uc002uum.1 uc002uum.2 uc002uum.3 uc002uum.4 
ENST00000233893.10 HSPE1 ENST00000233893.10 Homo sapiens heat shock protein family E (Hsp10) member 1 (HSPE1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002157) CH10_HUMAN ENST00000233893.1 ENST00000233893.2 ENST00000233893.3 ENST00000233893.4 ENST00000233893.5 ENST00000233893.6 ENST00000233893.7 ENST00000233893.8 ENST00000233893.9 NM_002157 O95421 P61604 Q04984 Q53X54 Q9UDH0 uc002uul.1 uc002uul.2 uc002uul.3 uc002uul.4 uc002uul.5 This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.102397.1, SRR1163655.433354.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology MANE Ensembl match :: ENST00000233893.10/ ENSP00000233893.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Eukaryotic CPN10 homolog which is essential for mitochondrial protein biogenesis, together with CPN60. Binds to CPN60 in the presence of Mg-ATP and suppresses the ATPase activity of the latter. Homohexamer. P49789:FHIT; NbExp=4; IntAct=EBI-711483, EBI-741760; Mitochondrion matrix. By stress. Mass=10843.5; Mass_error=0.2; Method=Electrospray; Range=2-102; Source=PubMed:7912672; Belongs to the GroES chaperonin family. osteoblast differentiation RNA binding protein binding ATP binding mitochondrion mitochondrial matrix protein folding activation of cysteine-type endopeptidase activity involved in apoptotic process response to unfolded protein membrane metal ion binding unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding extracellular exosome  uc002uul.1 uc002uul.2 uc002uul.3 uc002uul.4 uc002uul.5 
ENST00000233948.4 WNT6 ENST00000233948.4 Homo sapiens Wnt family member 6 (WNT6), mRNA. (from RefSeq NM_006522) ENST00000233948.1 ENST00000233948.2 ENST00000233948.3 NM_006522 Q9H1J6 Q9H238 Q9Y6F9 WNT6_HUMAN uc002vjc.1 uc002vjc.2 uc002vjc.3 The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is overexpressed in cervical cancer cell line and strongly coexpressed with another family member, WNT10A, in colorectal cancer cell line. The gene overexpression may play key roles in carcinogenesis. This gene and the WNT10A gene are clustered in the chromosome 2q35 region. The protein encoded by this gene is 97% identical to the mouse Wnt6 protein at the amino acid level. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY009401.1, AK075522.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233948.4/ ENSP00000233948.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Interacts with PORCN (By similarity). Secreted, extracellular space, extracellular matrix. Palmitoylation at Ser-228 is required for efficient binding to frizzled receptors. It is also required for subsequent palmitoylation at Cys-76. Palmitoylation is necessary for proper trafficking to cell surface (By similarity). Belongs to the Wnt family. branching involved in ureteric bud morphogenesis receptor binding frizzled binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen plasma membrane multicellular organism development axis specification cell surface positive regulation of gene expression Wnt signaling pathway neuron differentiation endocytic vesicle membrane extracellular matrix odontogenesis of dentin-containing tooth cell fate commitment positive regulation of transcription, DNA-templated epithelial-mesenchymal cell signaling cornea development in camera-type eye extracellular exosome positive regulation of tooth mineralization cellular response to retinoic acid nephron tubule formation nephron tubule development  uc002vjc.1 uc002vjc.2 uc002vjc.3 
ENST00000233954.6 IL1RL1 ENST00000233954.6 Homo sapiens interleukin 1 receptor like 1 (IL1RL1), transcript variant 1, mRNA. (from RefSeq NM_016232) A8K6B3 DER4 ENST00000233954.1 ENST00000233954.2 ENST00000233954.3 ENST00000233954.4 ENST00000233954.5 ILRL1_HUMAN NM_016232 Q01638 Q53TU7 Q8NEJ3 Q9ULV7 Q9UQ44 ST2 T1 uc002tbu.1 uc002tbu.2 The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. Receptor for interleukin-33 (IL-33), its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8. Possibly involved in helper T-cell function. Interacts with MYD88, IRAK1, IRAK4, and TRAF6. O95760:IL33; NbExp=2; IntAct=EBI-993762, EBI-724057; Isoform C: Cell membrane. Isoform B: Secreted. Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=A; Synonyms=ST2L; IsoId=Q01638-1; Sequence=Displayed; Name=B; Synonyms=ST2S; IsoId=Q01638-2; Sequence=VSP_002666, VSP_002667; Name=C; Synonyms=ST2V; IsoId=Q01638-3; Sequence=VSP_002664, VSP_002665; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Highly expressed in kidney, lung, placenta, stomach, skeletal muscle, colon and small intestine. Isoform A is prevalently expressed in the lung, testis, placenta, stomach and colon. Isoform B is more abundant in the brain, kidney and the liver. Isoform C is not detected in brain, heart, liver, kidney and skeletal muscle. Belongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain. interleukin-33 binding interleukin-33 receptor activity negative regulation of T-helper 1 type immune response cytokine receptor activity interleukin-1 receptor activity protein binding extracellular region plasma membrane immune response signal transduction external side of plasma membrane membrane integral component of membrane negative regulation of interferon-gamma production positive regulation of interleukin-5 production interleukin-33-mediated signaling pathway positive regulation of macrophage activation positive regulation of inflammatory response positive regulation of chemokine secretion  uc002tbu.1 uc002tbu.2 
ENST00000233957.7 IL18R1 ENST00000233957.7 Homo sapiens interleukin 18 receptor 1 (IL18R1), transcript variant 1, mRNA. (from RefSeq NM_003855) B2R9Y5 ENST00000233957.1 ENST00000233957.2 ENST00000233957.3 ENST00000233957.4 ENST00000233957.5 ENST00000233957.6 IL18R_HUMAN IL1RRP NM_003855 Q13478 Q52LC9 uc010fiy.1 uc010fiy.2 uc010fiy.3 uc010fiy.4 uc010fiy.5 uc010fiy.6 The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138517.888460.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for interleukin 18 (IL-18). Binding to the agonist leads to the activation of NF-kappa-B. Does not bind IL1A/interleukin-1 alpha or IL1B/interleukin-1 beta. Membrane; Single-pass type I membrane protein. Expressed in lung, leukocytes, spleen, liver, thymus, prostate, small intestine, colon, placenta, and heart, and is absent from brain, skeletal muscle, pancreas, and kidney. High level of expression in Hodgkin disease cell lines. Belongs to the interleukin-1 receptor family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 TIR domain. interleukin-1 receptor activity protein binding plasma membrane inflammatory response immune response signal transduction membrane integral component of membrane natural killer cell activation positive regulation of interferon-gamma production interleukin-18-mediated signaling pathway signaling receptor activity interleukin-18 binding interleukin-18 receptor activity T-helper 1 cell differentiation interleukin-18 receptor complex positive regulation of NF-kappaB transcription factor activity cellular response to cytokine stimulus positive regulation of NIK/NF-kappaB signaling positive regulation of T-helper 1 cell cytokine production  uc010fiy.1 uc010fiy.2 uc010fiy.3 uc010fiy.4 uc010fiy.5 uc010fiy.6 
ENST00000233969.3 SLC9A2 ENST00000233969.3 Homo sapiens solute carrier family 9 member A2 (SLC9A2), mRNA. (from RefSeq NM_003048) B2RMS2 ENST00000233969.1 ENST00000233969.2 NHE2 NM_003048 Q9UBY0 SL9A2_HUMAN uc002tca.1 uc002tca.2 uc002tca.3 uc002tca.4 uc002tca.5 This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.84593.1, SRR1803614.213018.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233969.3/ ENSP00000233969.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding system driven by the inward sodium ion chemical gradient. Seems to play an important role in colonic sodium absorption. Interacts with CHP1 and CHP2 (By similarity). Membrane; Multi-pass membrane protein. Expressed in skeletal muscle, colon and kidney. Lower levels in the testis, prostate, ovary, and small intestine. Phosphorylated (Possible). Belongs to the monovalent cation:proton antiporter 1 (CPA1) transporter (TC 2.A.36) family. The number, localization and denomination of hydrophobic domains in the Na(+)/H(+) exchangers vary among authors. plasma membrane ion transport cation transport sodium ion transport regulation of pH protein localization antiporter activity solute:proton antiporter activity sodium:proton antiporter activity potassium:proton antiporter activity membrane integral component of membrane regulation of intracellular pH transmembrane transport potassium ion transmembrane transport anion transmembrane transport sodium ion import across plasma membrane hydrogen ion transmembrane transport  uc002tca.1 uc002tca.2 uc002tca.3 uc002tca.4 uc002tca.5 
ENST00000233997.4 AZU1 ENST00000233997.4 Homo sapiens azurocidin 1 (AZU1), mRNA. (from RefSeq NM_001700) CAP7_HUMAN ENST00000233997.1 ENST00000233997.2 ENST00000233997.3 NM_001700 P20160 P80014 Q52LG4 Q9UCM1 Q9UCT5 uc002lpz.1 uc002lpz.2 uc002lpz.3 Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X58794.1, ERR279847.7758.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000233997.4/ ENSP00000233997.1 Protein has antimicrobial activity :: PMID: 11994286 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-nagative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G. Monomer. Cytoplasmic granule. Note=Cytoplasmic granules of neutrophils. Belongs to the peptidase S1 family. Elastase subfamily. Contains 1 peptidase S1 domain. microglial cell activation serine-type endopeptidase activity protein binding extracellular region extracellular space proteolysis chemotaxis inflammatory response protein kinase C-activating G-protein coupled receptor signaling pathway heparin binding peptidase activity glial cell migration positive regulation of gene expression positive regulation of peptidyl-threonine phosphorylation toxic substance binding membrane antimicrobial humoral response extrinsic component of membrane azurophil granule membrane azurophil granule lumen calcium-mediated signaling using intracellular calcium source monocyte activation positive regulation of tumor necrosis factor biosynthetic process azurophil granule defense response to bacterium negative regulation of apoptotic process regulation of vascular permeability neutrophil degranulation heparan sulfate proteoglycan binding cellular extravasation positive regulation of MHC class II biosynthetic process positive regulation of cell adhesion positive regulation of protein kinase activity macrophage chemotaxis positive regulation of interleukin-1 beta biosynthetic process positive regulation of fractalkine biosynthetic process positive regulation of phagocytosis defense response to Gram-negative bacterium induction of positive chemotaxis defense response to virus cell chemotaxis extracellular exosome protein kinase C signaling neutrophil mediated killing of bacterium  uc002lpz.1 uc002lpz.2 uc002lpz.3 
ENST00000234038.11 PPP1R7 ENST00000234038.11 Homo sapiens protein phosphatase 1 regulatory subunit 7 (PPP1R7), transcript variant 1, mRNA. (from RefSeq NM_002712) B4DFD4 ENST00000234038.1 ENST00000234038.10 ENST00000234038.2 ENST00000234038.3 ENST00000234038.4 ENST00000234038.5 ENST00000234038.6 ENST00000234038.7 ENST00000234038.8 ENST00000234038.9 NM_002712 PP1R7_HUMAN Q15435 Q9UQE5 Q9UQE6 Q9Y6K4 SDS22 uc002wat.1 uc002wat.2 uc002wat.3 uc002wat.4 This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Regulatory subunit of protein phosphatase 1 (By similarity). Interacts with PPP1CA, PPP1CB and PPP1CC/PPP1G isoform 1. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=sds22alpha1; IsoId=Q15435-1; Sequence=Displayed; Name=2; Synonyms=sds22alpha2; IsoId=Q15435-2; Sequence=VSP_019244; Name=3; Synonyms=sds22beta1; IsoId=Q15435-3; Sequence=VSP_019245, VSP_019246; Name=4; Synonyms=sds22beta2; IsoId=Q15435-4; Sequence=VSP_019244, VSP_019245, VSP_019246; Widely expressed. Belongs to the SDS22 family. Contains 11 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. protein binding nucleus chromosome cytoplasm protein phosphatase regulator activity enzyme regulator activity positive regulation of protein dephosphorylation regulation of phosphoprotein phosphatase activity regulation of catalytic activity extracellular exosome  uc002wat.1 uc002wat.2 uc002wat.3 uc002wat.4 
ENST00000234040.9 PASK ENST00000234040.9 Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA. (from RefSeq NM_015148) ENST00000234040.1 ENST00000234040.2 ENST00000234040.3 ENST00000234040.4 ENST00000234040.5 ENST00000234040.6 ENST00000234040.7 ENST00000234040.8 KIAA0135 NM_015148 PASK_HUMAN Q68DY3 Q6GSJ5 Q86XH6 Q96RG2 Q99763 Q9UFR7 uc002wao.1 uc002wao.2 uc002wao.3 This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. Serine/threonine-protein kinase involved in energy homeostasis and protein translation. Phosphorylates EEF1A1, GYS1, PDX1 and RPS6. Probably plays a role under changing environmental conditions (oxygen, glucose, nutrition), rather than under standard conditions. Acts as a sensor involved in energy homeostasis: regulates glycogen synthase synthesis by mediating phosphorylation of GYS1, leading to GYS1 inactivation. May be involved in glucose-stimulated insulin production in pancreas and regulation of glucagon secretion by glucose in alpha cells; however such data require additional evidences. May play a role in regulation of protein translation by phosphorylating EEF1A1, leading to increase translation efficiency. May also participate to respiratory regulation. ATP + a protein = ADP + a phosphoprotein. Protein kinase activity is inhibited by the first PAS domain: binding of an unidentified ligand desinhibits the protein kinase activity. May be activated by autophosphorylation on Thr-1161 and Thr-1165 (PubMed:11459942). The activating role of autophosphorylation at Thr-1161 is unclear: according to a report, autophosphorylation at Thr-1161 does not play a major role in activation (PubMed:20943661). Autophosphorylation is enhanced upon phosphatidylinositol monophosphate (phosphatidylinositol 4-phosphate) binding and inhibited upon phosphatidylinositol bi- and tri-phosphate binding. In contrast, phosphorylation of target proteins is inhibited upon all phosphatidylinositol-binding (phosphatidylinositol mono- bi- and tri-phosphate). Cytoplasm. Nucleus. Note=Localizes in the nucleus of testis germ cells and in the midpiece of sperm tails. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96RG2-1; Sequence=Displayed; Name=2; IsoId=Q96RG2-2; Sequence=VSP_009302; Note=No experimental confirmation available; Ubiquitously expressed, with slightly higher expression in brain, prostate and testis. Reduced expression was found in placenta. Present in germ cells of testis and in the midpiece of sperm tails (at protein level). The protein kinase domain mediates binding to phosphatidylinositol. Autophosphorylated on Thr-1161 and Thr-1165. Autophosphorylation is activated by phospholipids. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Contains 2 PAS (PER-ARNT-SIM) domains. Contains 1 protein kinase domain. Sequence=BAA09484.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein phosphorylation lipid binding kinase activity phosphorylation transferase activity phosphatidylinositol binding intracellular signal transduction regulation of respiratory gaseous exchange negative regulation of glycogen biosynthetic process positive regulation of translation protein autophosphorylation regulation of glucagon secretion energy homeostasis  uc002wao.1 uc002wao.2 uc002wao.3 
ENST00000234071.8 PROC ENST00000234071.8 Homo sapiens protein C, inactivator of coagulation factors Va and VIIIa (PROC), transcript variant 12, mRNA. (from RefSeq NM_001375613) ENST00000234071.1 ENST00000234071.2 ENST00000234071.3 ENST00000234071.4 ENST00000234071.5 ENST00000234071.6 ENST00000234071.7 NM_001375613 P04070 PROC_HUMAN Q15189 Q15190 Q16001 Q53S74 Q9UC55 uc002tok.1 uc002tok.2 uc002tok.3 uc002tok.4 uc002tok.5 This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]. Protein C is a vitamin K-dependent serine protease that regulates blood coagulation by inactivating factors Va and VIIIa in the presence of calcium ions and phospholipids. Degradation of blood coagulation factors Va and VIIIa. Synthesized as a single chain precursor, which is cleaved into a light chain and a heavy chain held together by a disulfide bond. The enzyme is then activated by thrombin, which cleaves a tetradecapeptide from the amino end of the heavy chain; this reaction, which occurs at the surface of endothelial cells, is strongly promoted by thrombomodulin. P51511:MMP15; NbExp=2; IntAct=EBI-1383018, EBI-1383043; Plasma; synthesized in the liver. The vitamin K-dependent, enzymatic carboxylation of some Glu residues allows the modified protein to bind calcium. N- and O-glycosylated. Partial (70%) N-glycosylation of Asn- 371 with an atypical N-X-C site produces a higher molecular weight form referred to as alpha. The lower molecular weight form, not N- glycosylated at Asn-371, is beta. O-glycosylated with core 1 or possibly core 8 glycans. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. May be phosphorylated on a Ser or Thr in a region (AA 25-30) of the propeptide. Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860]. A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency. Defects in PROC are the cause of thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304]. A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare. Calcium also binds, with stronger affinity to another site, beyond the GLA domain. This GLA-independent binding site is necessary for the recognition of the thrombin- thrombomodulin complex. Belongs to the peptidase S1 family. Contains 2 EGF-like domains. Contains 1 Gla (gamma-carboxy-glutamate) domain. Contains 1 peptidase S1 domain. Sequence=S76088; Type=Erroneous termination; Positions=151; Note=Translated as Cys; Name=Wikipedia; Note=Protein C entry; URL="http://en.wikipedia.org/wiki/Protein_C"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PROC"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/proc/"; serine-type endopeptidase activity calcium ion binding protein binding extracellular region extracellular space endoplasmic reticulum endoplasmic reticulum lumen Golgi apparatus Golgi lumen proteolysis ER to Golgi vesicle-mediated transport blood coagulation hemostasis peptidase activity serine-type peptidase activity hydrolase activity negative regulation of blood coagulation negative regulation of apoptotic process post-translational protein modification cellular protein metabolic process negative regulation of inflammatory response negative regulation of coagulation positive regulation of establishment of endothelial barrier  uc002tok.1 uc002tok.2 uc002tok.3 uc002tok.4 uc002tok.5 
ENST00000234091.8 ID2 ENST00000234091.8 Contains 1 basic helix-loop-helix (bHLH) domain. (from UniProt Q53T66) ENST00000234091.1 ENST00000234091.2 ENST00000234091.3 ENST00000234091.4 ENST00000234091.5 ENST00000234091.6 ENST00000234091.7 GIG8 LQ270680 Q53T66 Q53T66_HUMAN hCG_1784377 uc002qza.1 uc002qza.2 uc002qza.3 uc002qza.4 Contains 1 basic helix-loop-helix (bHLH) domain. negative regulation of transcription from RNA polymerase II promoter metanephros development natural killer cell differentiation thigmotaxis leukocyte differentiation membranous septum morphogenesis bundle of His development nucleus cytoplasm heart development circadian rhythm adult locomotory behavior entrainment of circadian clock positive regulation of gene expression negative regulation of gene expression oligodendrocyte development regulation of lipid metabolic process olfactory bulb development circadian regulation of gene expression macromolecular complex mammary gland epithelial cell proliferation regulation of circadian rhythm entrainment of circadian clock by photoperiod enucleate erythrocyte differentiation negative regulation of DNA binding locomotor rhythm negative regulation of B cell differentiation positive regulation of fat cell differentiation positive regulation of erythrocyte differentiation positive regulation of macrophage differentiation negative regulation of neuron differentiation negative regulation of osteoblast differentiation positive regulation of blood pressure negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein dimerization activity cell development cell maturation Peyer's patch development embryonic digestive tract morphogenesis positive regulation of smooth muscle cell proliferation neuron fate commitment cell morphogenesis involved in neuron differentiation positive regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation adipose tissue development mammary gland alveolus development epithelial cell differentiation involved in mammary gland alveolus development endodermal digestive tract morphogenesis positive regulation of cell cycle arrest cellular response to lithium ion cellular senescence negative regulation of neural precursor cell proliferation  uc002qza.1 uc002qza.2 uc002qza.3 uc002qza.4 
ENST00000234111.9 ODC1 ENST00000234111.9 Homo sapiens ornithine decarboxylase 1 (ODC1), transcript variant 1, mRNA. (from RefSeq NM_002539) DCOR_HUMAN ENST00000234111.1 ENST00000234111.2 ENST00000234111.3 ENST00000234111.4 ENST00000234111.5 ENST00000234111.6 ENST00000234111.7 ENST00000234111.8 NM_002539 P11926 Q53TU3 Q6LDS9 uc002rao.1 uc002rao.2 uc002rao.3 uc002rao.4 This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]. L-ornithine = putrescine + CO(2). Pyridoxal phosphate. Inhibited by S-nitrosylation. Amine and polyamine biosynthesis; putrescine biosynthesis via L-ornithine pathway; putrescine from L-ornithine: step 1/1. Homodimer. O95190:OAZ2; NbExp=1; IntAct=EBI-1044287, EBI-1051861; Down-regulated in response to enterovirus 71 (EV71) infection (at protein level). S-Nitrosylation inhibits the enzyme. S-Nitrosylated in vitro on 4 cysteine residues. Belongs to the Orn/Lys/Arg decarboxylase class-II family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/odc1/"; Name=Wikipedia; Note=Ornithine decarboxylase entry; URL="http://en.wikipedia.org/wiki/Ornithine_decarboxylase"; kidney development catalytic activity ornithine decarboxylase activity protein binding cellular_component cytoplasm cytosol regulation of cellular amino acid metabolic process polyamine metabolic process polyamine biosynthetic process positive regulation of cell proliferation putrescine biosynthetic process response to virus lyase activity carboxy-lyase activity putrescine biosynthetic process from ornithine regulation of protein catabolic process protein homodimerization activity perinuclear region of cytoplasm  uc002rao.1 uc002rao.2 uc002rao.3 uc002rao.4 
ENST00000234115.10 PLEKHB2 ENST00000234115.10 Homo sapiens pleckstrin homology domain containing B2 (PLEKHB2), transcript variant 2, mRNA. (from RefSeq NM_017958) ENST00000234115.1 ENST00000234115.2 ENST00000234115.3 ENST00000234115.4 ENST00000234115.5 ENST00000234115.6 ENST00000234115.7 ENST00000234115.8 ENST00000234115.9 EVT2 NM_017958 PKHB2_HUMAN Q53FF1 Q53TH7 Q86W37 Q96CS7 Q9BV75 Q9NWK1 uc002tsj.1 uc002tsj.2 uc002tsj.3 uc002tsj.4 uc002tsj.5 Involved in retrograde transport of recycling endosomes. Recycling endosome membrane; Peripheral membrane protein. Note=Specifically detected in tubulovesicular structures, and colocalizes with TFNR. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96CS7-1; Sequence=Displayed; Name=2; IsoId=Q96CS7-2; Sequence=VSP_009783; Note=No experimental confirmation available; Name=3; IsoId=Q96CS7-3; Sequence=VSP_009784; Note=No experimental confirmation available; The PH domain specifically binds phosphatidylserine, which is enriched in recycling endosome membranes, it doesn't recognize PIPs. Contains 1 PH domain. protein binding phosphatidylinositol-3,4,5-trisphosphate binding endosome membrane integral component of membrane regulation of cell differentiation recycling endosome membrane  uc002tsj.1 uc002tsj.2 uc002tsj.3 uc002tsj.4 uc002tsj.5 
ENST00000234142.9 GREB1 ENST00000234142.9 May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers. (from UniProt Q4ZG55) A6NHD0 A6NKN0 B5MDA9 BC172757 ENST00000234142.1 ENST00000234142.2 ENST00000234142.3 ENST00000234142.4 ENST00000234142.5 ENST00000234142.6 ENST00000234142.7 ENST00000234142.8 GREB1_HUMAN KIAA0575 O60321 Q4ZG55 Q7Z5S2 Q9H2Q6 Q9H2Q7 Q9H2Q8 uc061gsq.1 May play a role in estrogen-stimulated cell proliferation. Acts as a regulator of hormone-dependent cancer growth in breast and prostate cancers. Membrane; Single-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GREB1a; IsoId=Q4ZG55-1; Sequence=Displayed; Name=2; Synonyms=GREB1b; IsoId=Q4ZG55-2; Sequence=VSP_031760, VSP_031761; Name=3; Synonyms=GREB1c; IsoId=Q4ZG55-3; Sequence=VSP_031758, VSP_031759; Name=4; IsoId=Q4ZG55-4; Sequence=VSP_031757; Expressed in proliferating prostatic tissue and prostate cancer. Estrogen-responsive; regulated by estrogen receptors. Regulated by androgens. The regulatory region of the gene contains 3 estrogen-responsive elements. Belongs to the GREB1 family. Sequence=BAA25501.2; Type=Erroneous initiation; nucleoplasm membrane integral component of membrane extracellular exosome  uc061gsq.1 
ENST00000234160.5 GORASP2 ENST00000234160.5 Homo sapiens golgi reassembly stacking protein 2 (GORASP2), transcript variant 1, mRNA. (from RefSeq NM_015530) ENST00000234160.1 ENST00000234160.2 ENST00000234160.3 ENST00000234160.4 GOLPH6 GORS2_HUMAN NM_015530 Q53TE3 Q96I74 Q96K84 Q9H8Y8 Q9H946 Q9UFW4 uc002ugk.1 uc002ugk.2 uc002ugk.3 uc002ugk.4 uc002ugk.5 This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]. Plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after mitotic breakdown. May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA. Forms a RAB2 effector complex with BLZF1/Golgin 45 in the medial Golgi. Interacts with members of the p24 cargo receptors. Interacts with CNIH and the cytoplasmic domain of transmembrane TGFA, prior its transit in the trans-Golgi. Does not interact with GM130. Interacts with KCTD5. Interacts with TMED2 and TMED3 (By similarity). P13569:CFTR; NbExp=3; IntAct=EBI-739467, EBI-349854; Golgi apparatus membrane; Lipid-anchor. Membrane; Peripheral membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H8Y8-1; Sequence=Displayed; Name=2; IsoId=Q9H8Y8-2; Sequence=VSP_011300; Myristoylated. Myristoylation is essential for the Golgi targeting (By similarity). Palmitoylated. Phosphorylated in mitotic cells. Belongs to the GORASP family. Contains 1 PDZ (DHR) domain. Golgi membrane protein binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus organelle organization Golgi organization spermatogenesis membrane cell differentiation response to endoplasmic reticulum stress organelle assembly  uc002ugk.1 uc002ugk.2 uc002ugk.3 uc002ugk.4 uc002ugk.5 
ENST00000234170.10 CEBPZ ENST00000234170.10 Homo sapiens CCAAT enhancer binding protein zeta (CEBPZ), mRNA. (from RefSeq NM_005760) CBF2 CEBPZ_HUMAN ENST00000234170.1 ENST00000234170.2 ENST00000234170.3 ENST00000234170.4 ENST00000234170.5 ENST00000234170.6 ENST00000234170.7 ENST00000234170.8 ENST00000234170.9 NM_005760 Q03701 Q8NE75 uc002rpz.1 uc002rpz.2 uc002rpz.3 uc002rpz.4 uc002rpz.5 uc002rpz.6 This gene belongs to the CEBP family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. Methylation of the promoter of this gene or mutations within the gene may be correlated with occurance of acute myeloid leukemia (AML). [provided by RefSeq, Jun 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.201620.1, SRR1660803.53522.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234170.10/ ENSP00000234170.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates transcription from the HSP70 promoter. Nucleus. Belongs to the CBF/MAK21 family. Sequence=AAA51924.1; Type=Frameshift; Positions=998; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding RNA binding nucleus transcription from RNA polymerase II promoter ribosome biogenesis positive regulation of transcription from RNA polymerase II promoter  uc002rpz.1 uc002rpz.2 uc002rpz.3 uc002rpz.4 uc002rpz.5 uc002rpz.6 
ENST00000234179.8 PRKD3 ENST00000234179.8 Homo sapiens protein kinase D3 (PRKD3), mRNA. (from RefSeq NM_005813) D6W587 ENST00000234179.1 ENST00000234179.2 ENST00000234179.3 ENST00000234179.4 ENST00000234179.5 ENST00000234179.6 ENST00000234179.7 EPK2 KPCD3_HUMAN NM_005813 O94806 PRKCN Q53TR7 Q8NEL8 uc061iee.1 uc061iee.2 uc061iee.3 This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.77122.1, SRR1803615.162147.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress (By similarity). ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Activated by DAG and phorbol esters. Phorbol- ester/DAG-type domains 1 and 2 bind both DAG and phorbol ester with high affinity and mediate translocation to the cell membrane. Autophosphorylation of Ser-735 and phosphorylation of Ser-731 by PKC relieves auto-inhibition by the PH domain. P63027:VAMP2; NbExp=7; IntAct=EBI-1255366, EBI-520113; Cytoplasm. Membrane. Note=Translocation to the cell membrane is required for kinase activation. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O94806-1; Sequence=Displayed; Name=2; IsoId=O94806-2; Sequence=VSP_029405, VSP_029406; Ubiquitous. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily. Contains 1 PH domain. Contains 2 phorbol-ester/DAG-type zinc fingers. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein kinase C activity protein binding ATP binding nucleoplasm cytoplasm cytosol protein phosphorylation protein kinase C-activating G-protein coupled receptor signaling pathway membrane kinase activity phosphorylation transferase activity sphingolipid biosynthetic process intracellular signal transduction metal ion binding protein kinase D signaling  uc061iee.1 uc061iee.2 uc061iee.3 
ENST00000234195.7 RMDN2 ENST00000234195.7 Homo sapiens regulator of microtubule dynamics 2 (RMDN2), transcript variant 1, mRNA. (from RefSeq NM_144713) A0A0C4DFM4 ENST00000234195.1 ENST00000234195.2 ENST00000234195.3 ENST00000234195.4 ENST00000234195.5 ENST00000234195.6 NM_144713 uc002rqn.1 uc002rqn.2 uc002rqn.3  uc002rqn.1 uc002rqn.2 uc002rqn.3 
ENST00000234198.9 DLX2 ENST00000234198.9 Homo sapiens distal-less homeobox 2 (DLX2), mRNA. (from RefSeq NM_004405) ENST00000234198.1 ENST00000234198.2 ENST00000234198.3 ENST00000234198.4 ENST00000234198.5 ENST00000234198.6 ENST00000234198.7 ENST00000234198.8 NM_004405 X5D7D8 uc002uhn.1 uc002uhn.2 uc002uhn.3 uc002uhn.4 uc002uhn.5 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291367.1, BC032558.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144120, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234198.9/ ENSP00000234198.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc002uhn.1 uc002uhn.2 uc002uhn.3 uc002uhn.4 uc002uhn.5 
ENST00000234256.4 SLC1A4 ENST00000234256.4 Homo sapiens solute carrier family 1 member 4 (SLC1A4), transcript variant 1, mRNA. (from RefSeq NM_003038) ASCT1 B7Z3C0 D6W5F0 ENST00000234256.1 ENST00000234256.2 ENST00000234256.3 NM_003038 P43007 SATT SATT_HUMAN uc010yqa.1 uc010yqa.2 uc010yqa.3 uc010yqa.4 The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]. Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence. Membrane; Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43007-1; Sequence=Displayed; Name=2; IsoId=P43007-2; Sequence=VSP_042880, VSP_042881; Note=No experimental confirmation available; Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined. Belongs to the sodium:dicarboxylate (SDF) symporter (TC 2.A.23) family. SLC1A4 subfamily. amino acid transmembrane transport chloride channel activity centrosome microtubule organizing center intermediate filament plasma membrane integral component of plasma membrane amino acid transport glutamine transport cell surface amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity L-alanine transmembrane transporter activity L-cystine transmembrane transporter activity L-glutamine transmembrane transporter activity L-proline transmembrane transporter activity L-serine transmembrane transporter activity L-threonine transmembrane transporter activity symporter activity L-alanine transport L-cystine transport proline transport L-serine transport threonine transport membrane integral component of membrane dendrite hydroxyproline transport L-hydroxyproline transmembrane transporter activity synaptic transmission, glutamatergic proline transmembrane transport melanosome neuronal cell body cognition transmembrane transport extracellular exosome chloride transmembrane transport  uc010yqa.1 uc010yqa.2 uc010yqa.3 uc010yqa.4 
ENST00000234296.7 ORC2 ENST00000234296.7 Homo sapiens origin recognition complex subunit 2 (ORC2), transcript variant 2, non-coding RNA. (from RefSeq NR_033915) ENST00000234296.1 ENST00000234296.2 ENST00000234296.3 ENST00000234296.4 ENST00000234296.5 ENST00000234296.6 NR_033915 ORC2L ORC2_HUMAN Q13204 Q13416 Q53TX5 uc002uwr.1 uc002uwr.2 uc002uwr.3 uc002uwr.4 uc002uwr.5 The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]. Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent, however specific DNA sequences that define origins of replication have not been identified so far. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. ORC is composed of six subunits. In human, ORC is cell cycle-dependent regulated: it is sequentially assembled at the exit from anaphase of mitosis and disassembled as cells enter S phase. Interacts with DBF4 (By similarity). Interacts with MCM10. Q7L590:MCM10; NbExp=5; IntAct=EBI-374957, EBI-374912; P25205:MCM3; NbExp=2; IntAct=EBI-374957, EBI-355153; Q13415:ORC1; NbExp=6; IntAct=EBI-374957, EBI-374847; O43929:ORC4; NbExp=6; IntAct=EBI-374957, EBI-374889; O43913:ORC5; NbExp=7; IntAct=EBI-374957, EBI-374928; Nucleus. Belongs to the ORC2 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/orc2l/"; G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter nuclear chromosome, telomeric region chromatin heterochromatin origin recognition complex condensed chromosome inner kinetochore DNA replication origin binding protein binding nucleus nucleoplasm nuclear origin of replication recognition complex centrosome DNA replication DNA replication initiation membrane  uc002uwr.1 uc002uwr.2 uc002uwr.3 uc002uwr.4 uc002uwr.5 
ENST00000234301.3 COX7A2L ENST00000234301.3 Homo sapiens cytochrome c oxidase subunit 7A2 like (COX7A2L), transcript variant 6, non-coding RNA. (from RefSeq NR_134947) ENST00000234301.1 ENST00000234301.2 NR_134947 Q6FGA0 Q6FGA0_HUMAN hCG_1783904 uc002rsk.1 uc002rsk.2 uc002rsk.3 uc002rsk.4 uc002rsk.5 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]. cytochrome-c oxidase activity nucleolus mitochondrion mitochondrial respiratory chain electron carrier activity membrane integral component of membrane electron transport chain hydrogen ion transmembrane transport  uc002rsk.1 uc002rsk.2 uc002rsk.3 uc002rsk.4 uc002rsk.5 
ENST00000234310.8 PPP3R1 ENST00000234310.8 Homo sapiens protein phosphatase 3 regulatory subunit B, alpha (PPP3R1), mRNA. (from RefSeq NM_000945) B2RC10 B5MDU4 CANB1_HUMAN CNA2 CNB ENST00000234310.1 ENST00000234310.2 ENST00000234310.3 ENST00000234310.4 ENST00000234310.5 ENST00000234310.6 ENST00000234310.7 NM_000945 P06705 P15117 P63098 Q08044 Q53SL0 uc002sei.1 uc002sei.2 uc002sei.3 Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity. Composed of a catalytic subunit (A) and a regulatory subunit (B). This protein has four functional calcium-binding sites. Belongs to the calcineurin regulatory subunit family. Contains 4 EF-hand domains. calcium-dependent protein serine/threonine phosphatase activity calcium ion binding protein binding calmodulin binding nucleoplasm cytoplasm mitochondrion cytosol plasma membrane calcineurin complex protein dephosphorylation Wnt signaling pathway, calcium modulating pathway cyclosporin A binding membrane phosphatase binding protein domain specific binding calcineurin-NFAT signaling cascade Fc-epsilon receptor signaling pathway sarcolemma positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  uc002sei.1 uc002sei.2 uc002sei.3 
ENST00000234313.8 PLEK ENST00000234313.8 Homo sapiens pleckstrin (PLEK), mRNA. (from RefSeq NM_002664) B2R9E8 ENST00000234313.1 ENST00000234313.2 ENST00000234313.3 ENST00000234313.4 ENST00000234313.5 ENST00000234313.6 ENST00000234313.7 NM_002664 P08567 P47 PLEK_HUMAN Q53SU8 Q6FGM8 Q6FGQ1 Q8WV81 uc002sen.1 uc002sen.2 uc002sen.3 uc002sen.4 uc002sen.5 uc002sen.6 Major protein kinase C substrate of platelets. O95810:SDPR; NbExp=4; IntAct=EBI-2565501, EBI-742141; Contains 1 DEP domain. Contains 2 PH domains. hematopoietic progenitor cell differentiation platelet degranulation protein kinase C binding protein binding extracellular region cytoplasm cytosol plasma membrane vesicle docking involved in exocytosis integrin-mediated signaling pathway positive regulation of platelet activation negative regulation of inositol phosphate biosynthetic process positive regulation of inositol-polyphosphate 5-phosphatase activity membrane cell projection organization positive regulation of actin filament depolymerization phospholipase C-inhibiting G-protein coupled receptor signaling pathway cortical actin cytoskeleton organization ruffle organization actin cytoskeleton reorganization positive regulation of actin filament bundle assembly ruffle membrane positive regulation of integrin activation intracellular signal transduction protein homodimerization activity phosphatidylinositol-3,4-bisphosphate binding negative regulation of G-protein coupled receptor protein signaling pathway phosphatidylinositol metabolic process negative regulation of calcium-mediated signaling regulation of cell diameter thrombin-activated receptor signaling pathway platelet aggregation protein kinase C signaling protein secretion by platelet  uc002sen.1 uc002sen.2 uc002sen.3 uc002sen.4 uc002sen.5 uc002sen.6 
ENST00000234347.10 PRTN3 ENST00000234347.10 Homo sapiens proteinase 3 (PRTN3), mRNA. (from RefSeq NM_002777) ENST00000234347.1 ENST00000234347.2 ENST00000234347.3 ENST00000234347.4 ENST00000234347.5 ENST00000234347.6 ENST00000234347.7 ENST00000234347.8 ENST00000234347.9 MBN NM_002777 P15637 P18078 P24158 PRTN3_HUMAN Q4VB08 Q4VB09 Q6LBM7 Q6LBN2 Q9UD25 Q9UQD8 uc002lqa.1 uc002lqa.2 uc002lqa.3 Polymorphonuclear leukocyte serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) and causes emphysema when administered by tracheal insufflation to hamsters. Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-. P84022:SMAD3; NbExp=2; IntAct=EBI-465028, EBI-347161; Belongs to the peptidase S1 family. Elastase subfamily. Contains 1 peptidase S1 domain. Sequence=AAA36342.1; Type=Frameshift; Positions=34, 39; Sequence=CAA39598.1; Type=Erroneous initiation; Name=Wikipedia; Note=Proteinase 3 entry; URL="http://en.wikipedia.org/wiki/Proteinase_3"; serine-type endopeptidase activity receptor binding protein binding extracellular region extracellular space cytosol plasma membrane proteolysis membrane protein ectodomain proteolysis phagocytosis blood coagulation peptidase activity serine-type peptidase activity positive regulation of cell proliferation membrane hydrolase activity cytokine-mediated signaling pathway antimicrobial humoral response enzyme binding collagen catabolic process azurophil granule lumen neutrophil degranulation positive regulation of GTPase activity plasma membrane raft membrane raft cell-cell junction maintenance negative regulation of phagocytosis extracellular exosome neutrophil extravasation mature conventional dendritic cell differentiation  uc002lqa.1 uc002lqa.2 uc002lqa.3 
ENST00000234371.10 KISS1R ENST00000234371.10 Homo sapiens KISS1 receptor (KISS1R), mRNA. (from RefSeq NM_032551) A5D8U2 AXOR12 B2RTV1 ENST00000234371.1 ENST00000234371.2 ENST00000234371.3 ENST00000234371.4 ENST00000234371.5 ENST00000234371.6 ENST00000234371.7 ENST00000234371.8 ENST00000234371.9 GPR54 KISSR_HUMAN NM_032551 Q969F8 Q96QG0 uc002lqk.1 uc002lqk.2 uc002lqk.3 uc002lqk.4 uc002lqk.5 The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC141812.1, AY253982.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820689, SAMN01820701 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234371.10/ ENSP00000234371.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for metastin (kisspeptin-54 or kp-54), a C- terminally amidated peptide of KiSS1. KiSS1 is a metastasis suppressor protein that suppresses metastases in malignant melanomas and in some breast carcinomas without affecting tumorigenicity. The metastasis suppressor properties may be mediated in part by cell cycle arrest and induction of apoptosis in malignant cells. The receptor is essential for normal gonadotropin-released hormone physiology and for puberty. The hypothalamic KiSS1/KISS1R system is a pivotal factor in central regulation of the gonadotropic axis at puberty and in adulthood. The receptor is also probably involved in the regulation and fine- tuning of trophoblast invasion generated by the trophoblast itself. Analysis of the transduction pathways activated by the receptor identifies coupling to phospholipase C and intracellular calcium release through pertussis toxin-insensitive G(q) proteins. Cell membrane; Multi-pass membrane protein. Most highly expressed in the pancreas, placenta and spinal cord, with lower-level of expression in peripheral blood leukocytes, kidney, lung, fetal liver, stomach, small intestine, testes, spleen, thymus, adrenal glands and lymph nodes. In the adult brain, expressed in the superior frontal gyrus, putamen, caudate nucleus, cingulate gyrus, nucleus accumbens, hippocampus, pons and amygdala, as well as the hypothalamus and pituitary. Expression levels are higher in early (7-9 weeks) than term placentas. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Also found in the extravillous trophoblast suggesting endocrine/paracrine activation mechanism. Expressed at higher levels in first trimester trophoblasts than at term of gestation. Defects in KISS1R are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function. Defects in KISS1R are a cause of central precocious puberty (CEPREPU) [MIM:176400]. Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Central precocious puberty refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis. Belongs to the G-protein coupled receptor 1 family. Name=Protein Spotlight; Note=Tintin's blight - Issue 58 of May 2005; URL="http://web.expasy.org/spotlight/back_issues/sptlt058.shtml"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KISS1R"; G-protein coupled receptor activity protein binding plasma membrane integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway neuropeptide receptor activity G-protein coupled peptide receptor activity cell surface membrane integral component of membrane intracellular membrane-bounded organelle  uc002lqk.1 uc002lqk.2 uc002lqk.3 uc002lqk.4 uc002lqk.5 
ENST00000234389.3 GRIN3B ENST00000234389.3 Homo sapiens glutamate ionotropic receptor NMDA type subunit 3B (GRIN3B), mRNA. (from RefSeq NM_138690) ENST00000234389.1 ENST00000234389.2 NMD3B_HUMAN NM_138690 O60391 Q5EAK7 Q7RTW9 uc002lqo.1 uc002lqo.2 The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY507106.1, AY507107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158569, SAMN01820689 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234389.3/ ENSP00000234389.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## NMDA receptor subtype of glutamate-gated ion channels with reduced single-channel conductance, low calcium permeability and low voltage-dependent sensitivity to magnesium. Mediated by glycine. Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). Does not form functional homomeric channels. Found in a complex containing GRIN1 and GRIN2A (By similarity). Cell membrane; Multi-pass membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=Requires the presence of GRIN1 to be targeted at the plasma membrane (By similarity). Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR3B/GRIN3B subfamily. Sequence=AAC12680.1; Type=Erroneous gene model prediction; ionotropic glutamate receptor activity ion channel activity cation channel activity calcium channel activity plasma membrane ion transport glutamate receptor activity ligand-gated ion channel activity membrane integral component of membrane glycine binding NMDA selective glutamate receptor complex cell junction neurotransmitter receptor activity ion transmembrane transport ionotropic glutamate receptor signaling pathway synaptic transmission, glutamatergic signaling receptor activity neurotransmitter binding neuronal cell body synapse postsynaptic membrane modulation of synaptic transmission protein insertion into membrane regulation of calcium ion transport regulation of postsynaptic membrane potential calcium ion transmembrane transport cation transmembrane transport postsynaptic density membrane transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  uc002lqo.1 uc002lqo.2 
ENST00000234392.3 VAX2 ENST00000234392.3 Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA. (from RefSeq NM_012476) ENST00000234392.1 ENST00000234392.2 NM_012476 Q53Y33 Q9UIW0 VAX2_HUMAN uc002shh.1 uc002shh.2 uc002shh.3 uc002shh.4 uc002shh.5 This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y17791.1, SRR3476690.1009352.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234392.3/ ENSP00000234392.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina. Nucleus (Probable). Expressed in the ventral part of the optic vesicles at 7 week dpc. Belongs to the EMX homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development ectoderm development axonogenesis central nervous system development visual perception dorsal/ventral axis specification Wnt signaling pathway neuron differentiation forebrain development chromatin DNA binding camera-type eye development sequence-specific DNA binding embryonic eye morphogenesis retina development in camera-type eye  uc002shh.1 uc002shh.2 uc002shh.3 uc002shh.4 uc002shh.5 
ENST00000234396.10 ATP6V1B1 ENST00000234396.10 Homo sapiens ATPase H+ transporting V1 subunit B1 (ATP6V1B1), mRNA. (from RefSeq NM_001692) ATP6B1 ENST00000234396.1 ENST00000234396.2 ENST00000234396.3 ENST00000234396.4 ENST00000234396.5 ENST00000234396.6 ENST00000234396.7 ENST00000234396.8 ENST00000234396.9 NM_001692 P15313 Q53FY0 Q6P4H6 VATB VATB1_HUMAN VPP3 uc002shj.1 uc002shj.2 uc002shj.3 uc002shj.4 uc002shj.5 uc002shj.6 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC063411.1, AK291121.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234396.10/ ENSP00000234396.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein). Forms a complex with SLC9A3R1 and SCL4A7. Endomembrane system; Peripheral membrane protein. Note=Endomembrane. Expressed in the cochlea and endolymphatic sac. The PDZ-binding motif mediates interactions with SLC9A3R1 and SCL4A7. Defects in ATP6V1B1 are the cause of distal renal tubular acidosis with deafness (dRTA-D) [MIM:267300]. Inheritance is autosomal recessive. Patients with recessive dRTA are severely affected, presenting with either acute illness or growth failure at a young age, and bilateral sensorineural deafness. Other features include low serum K(+) due to renal potassium wasting, and elevated urinary calcium. If untreated, this acidosis may result in dissolution of bone, leading to osteomalacia and rickets. Renal deposition of calcium salts (nephrocalcinosis) and renal stone formation commonly occur. Belongs to the ATPase alpha/beta chains family. Sequence=AAA36498.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP6V1B1"; ossification renal water homeostasis renal sodium ion transport ATP binding cytoplasm cytosol microvillus prostaglandin metabolic process ion transport regulation of pH excretion sensory perception of sound synaptic vesicle insulin receptor signaling pathway regulation of gene expression endomembrane system hydrogen ion transmembrane transporter activity membrane regulation of macroautophagy basolateral plasma membrane apical plasma membrane lateral plasma membrane vacuolar proton-transporting V-type ATPase complex hydrolase activity adult behavior proton-transporting V-type ATPase, V1 domain transferrin transport ion transmembrane transport renal sodium excretion olfactory behavior inner ear morphogenesis macromolecular complex binding pH reduction ATP metabolic process chloride ion homeostasis calcium ion homeostasis potassium ion homeostasis extracellular exosome phagosome acidification extrinsic component of synaptic vesicle membrane hydrogen ion transmembrane transport  uc002shj.1 uc002shj.2 uc002shj.3 uc002shj.4 uc002shj.5 uc002shj.6 
ENST00000234420.11 MSH6 ENST00000234420.11 Homo sapiens mutS homolog 6 (MSH6), transcript variant 1, mRNA. (from RefSeq NM_000179) ENST00000234420.1 ENST00000234420.10 ENST00000234420.2 ENST00000234420.3 ENST00000234420.4 ENST00000234420.5 ENST00000234420.6 ENST00000234420.7 ENST00000234420.8 ENST00000234420.9 GTBP MSH6_HUMAN NM_000179 O43706 O43917 P52701 Q8TCX4 Q9BTB5 uc002rwd.1 uc002rwd.2 uc002rwd.3 uc002rwd.4 uc002rwd.5 uc002rwd.6 This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]. Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1-PMS1). Interacts with EXO1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ATR. P43246:MSH2; NbExp=4; IntAct=EBI-395529, EBI-355888; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=GTBP-N; IsoId=P52701-1; Sequence=Displayed; Name=GTBP-alt; IsoId=P52701-2; Sequence=VSP_003291, VSP_003292; The N-terminus is blocked. Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway. Defects in MSH6 are the cause of hereditary non-polyposis colorectal cancer type 5 (HNPCC5) [MIM:614350]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. MSH6 mutations appear to be associated with atypical HNPCC and in particular with development of endometrial carcinoma or atypical endometrial hyperplasia, the presumed precursor of endometrial cancer. Defects in MSH6 are also found in familial colorectal cancers (suspected or incomplete HNPCC) that do not fulfill the Amsterdam criteria for HNPCC. Defects in MSH6 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]. Defects in MSH6 are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Belongs to the DNA mismatch repair MutS family. Contains 1 PWWP domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MSH6ID344ch2p16.html"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSH6"; Name=Hereditary non-polyposis colorectal cancer db; URL="http://www.nfdht.nl/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh6/"; nucleotide binding four-way junction DNA binding meiotic mismatch repair nuclear chromatin DNA binding chromatin binding damaged DNA binding protein binding ATP binding nucleus nucleoplasm chromosome Golgi apparatus cytosol DNA repair pyrimidine dimer repair mismatch repair cellular response to DNA damage stimulus DNA-dependent ATPase activity determination of adult lifespan intrinsic apoptotic signaling pathway in response to DNA damage response to UV viral process somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments enzyme binding mismatched DNA binding guanine/thymine mispair binding mismatch repair complex MutSalpha complex methylated histone binding interstrand cross-link repair intracellular membrane-bounded organelle maintenance of DNA repeat elements isotype switching negative regulation of DNA recombination positive regulation of helicase activity intrinsic apoptotic signaling pathway magnesium ion binding double-stranded DNA binding ATPase activity single guanine insertion binding single thymine insertion binding oxidized purine DNA binding MutLalpha complex binding ADP binding protein homodimerization activity  uc002rwd.1 uc002rwd.2 uc002rwd.3 uc002rwd.4 uc002rwd.5 uc002rwd.6 
ENST00000234453.10 PLEKHA3 ENST00000234453.10 Homo sapiens pleckstrin homology domain containing A3 (PLEKHA3), mRNA. (from RefSeq NM_019091) ENST00000234453.1 ENST00000234453.2 ENST00000234453.3 ENST00000234453.4 ENST00000234453.5 ENST00000234453.6 ENST00000234453.7 ENST00000234453.8 ENST00000234453.9 FAPP1 NM_019091 PKHA3_HUMAN Q4ZG69 Q86TQ1 Q9HB20 Q9NXT3 uc002umn.1 uc002umn.2 uc002umn.3 uc002umn.4 uc002umn.5 Involved in Golgi to cell surface membrane traffic. Induces membrane tubulation. Binds preferentially to phosphatidylinositol 4-phosphate (PtdIns4P). Interacts with GTP-bound ARF1. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Widely expressed. The PH domain of FAPPS binds the small GTPase ARF1 and phosphatidylinositol-4-phosphate (PtdIns4P) with high selectivity, and is required for recruitment of FAPPs to the trans-Golgi network (TGN) (By similarity). Contains 1 PH domain. Sequence=BAA90927.1; Type=Erroneous initiation; Golgi membrane Golgi apparatus cytosol phosphatidylinositol biosynthetic process biological_process lipid binding membrane ER to Golgi ceramide transport ceramide transport phosphatidylinositol-4-phosphate binding ceramide 1-phosphate binding ceramide 1-phosphate transporter activity ceramide 1-phosphate transport  uc002umn.1 uc002umn.2 uc002umn.3 uc002umn.4 uc002umn.5 
ENST00000234454.6 SPR ENST00000234454.6 Homo sapiens sepiapterin reductase (SPR), mRNA. (from RefSeq NM_003124) A8K741 D6W5H2 ENST00000234454.1 ENST00000234454.2 ENST00000234454.3 ENST00000234454.4 ENST00000234454.5 NM_003124 P35270 Q53GI9 Q9UBB1 SPRE_HUMAN uc002sik.1 uc002sik.2 uc002sik.3 uc002sik.4 This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.467140.1, AK222942.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234454.6/ ENSP00000234454.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. L-erythro-7,8-dihydrobiopterin + NADP(+) = sepiapterin + NADPH. L-erythro-tetrahydrobiopterin + 2 NADP(+) = 6- pyruvoyl-5,6,7,8-tetrahydropterin + 2 NADPH. Kinetic parameters: KM=14.3 uM for sepiapterin; KM=10 uM for NADPH; Homodimer. Cytoplasm. In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters. Defects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Belongs to the sepiapterin reductase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPR"; aldo-keto reductase (NADP) activity sepiapterin reductase activity nucleoplasm cytoplasm cytosol tetrahydrobiopterin biosynthetic process nitric oxide biosynthetic process oxidoreductase activity NADP binding regulation of nitric-oxide synthase activity cofactor metabolic process oxidation-reduction process extracellular exosome  uc002sik.1 uc002sik.2 uc002sik.3 uc002sik.4 
ENST00000234549.11 FAM76A ENST00000234549.11 Homo sapiens family with sequence similarity 76 member A (FAM76A), transcript variant 2, mRNA. (from RefSeq NM_001143913) B4DWT3 ENST00000234549.1 ENST00000234549.10 ENST00000234549.2 ENST00000234549.3 ENST00000234549.4 ENST00000234549.5 ENST00000234549.6 ENST00000234549.7 ENST00000234549.8 ENST00000234549.9 FA76A_HUMAN NM_001143913 O95565 O95566 Q8N7J5 Q8TAV0 uc001bos.1 uc001bos.2 uc001bos.3 uc001bos.4 Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q8TAV0-1; Sequence=Displayed; Name=2; IsoId=Q8TAV0-2; Sequence=VSP_019772; Note=No experimental confirmation available; Name=3; IsoId=Q8TAV0-3; Sequence=VSP_019771; Note=No experimental confirmation available; Name=4; IsoId=Q8TAV0-4; Sequence=VSP_019771, VSP_019772; Note=No experimental confirmation available; Name=5; IsoId=Q8TAV0-5; Sequence=VSP_043250, VSP_019772; Note=No experimental confirmation available; Belongs to the FAM76 family. nucleoplasm  uc001bos.1 uc001bos.2 uc001bos.3 uc001bos.4 
ENST00000234590.10 ENO1 ENST00000234590.10 Homo sapiens enolase 1 (ENO1), transcript variant 1, mRNA. (from RefSeq NM_001428) B2RD59 ENO1L1 ENOA_HUMAN ENST00000234590.1 ENST00000234590.2 ENST00000234590.3 ENST00000234590.4 ENST00000234590.5 ENST00000234590.6 ENST00000234590.7 ENST00000234590.8 ENST00000234590.9 MBPB1 MPB1 NM_001428 P06733 P22712 Q16704 Q4TUS4 Q53FT9 Q53HR3 Q658M5 Q6GMP2 Q71V37 Q7Z3V6 Q8WU71 Q9UCH6 Q9UM55 uc001apj.1 uc001apj.2 uc001apj.3 uc001apj.4 This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]. Multifunctional enzyme that, as well as its role in glycolysis, plays a part in various processes such as growth control, hypoxia tolerance and allergic responses. May also function in the intravascular and pericellular fibrinolytic system due to its ability to serve as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons. Stimulates immunoglobulin production. MBP1 binds to the myc promoter and acts as a transcriptional repressor. May be a tumor suppressor. 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O. Magnesium. Required for catalysis and for stabilizing the dimer. pH dependence: Enolase activity is lost above pH 9.0. Immunoglobulin production stimulating activity is retained at pH 13.0; Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5. Mammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. ENO1 interacts with PLG in the neuronal plasma membrane and promotes its activation. The C-terminal lysine is required for this binding (By similarity). P22303:ACHE; NbExp=2; IntAct=EBI-353877, EBI-1637793; Q8WZ42:TTN; NbExp=3; IntAct=EBI-353877, EBI-681210; Cytoplasm. Cell membrane. Cytoplasm, myofibril, sarcomere, M line. Note=Can translocate to the plasma membrane in either the homodimeric (alpha/alpha) or heterodimeric (alpha/gamma) form. ENO1 is localized to the M line. Isoform MBP-1: Nucleus. Event=Alternative initiation; Named isoforms=2; Name=alpha-enolase; IsoId=P06733-1; Sequence=Displayed; Name=MBP-1; IsoId=P06733-2; Sequence=VSP_018725; Note=It is uncertain whether the alternative initiation site is at Met-94 or at Met-97; The alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons. During ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells. Induced in diffuse large cell lymphoma (DLCL) after treatment with the natural biological agent, Bryo1. Up-regulated in response to enterovirus 71 (EV71) infection (at protein level). ISGylated. Used as a diagnostic marker for many tumors and, in the heterodimeric form, alpha/gamma, as a marker for hypoxic brain injury after cardiac arrest. Also marker for endometriosis. Antibodies against alpha-enolase are present in sera from patients with cancer-associated retinopathy syndrome (CAR), a progressive blinding disease which occurs in the presence of systemic tumor growth, primarily small-cell carcinoma of the lung and other malignancies. Is identified as an autoantigen in Hashimoto encephalopathy (HE) a rare autoimmune disease associated with Hashimoto thyroiditis (HT). HT is a disorder in which destructive processes overcome the potential capacity of thyroid replacement leading to hypothyroidism. Belongs to the enolase family. Sequence=AAA35698.1; Type=Frameshift; Positions=Several; Sequence=AAA35698.1; Type=Miscellaneous discrepancy; Note=Sequencing errors; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/eno1/"; phosphopyruvate hydratase complex negative regulation of transcription from RNA polymerase II promoter magnesium ion binding RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding RNA binding phosphopyruvate hydratase activity protein binding extracellular space nucleus cytoplasm cytosol plasma membrane gluconeogenesis glycolytic process response to virus cell surface positive regulation of plasminogen activation membrane lyase activity negative regulation of cell growth M band protein homodimerization activity cadherin binding negative regulation of transcription, DNA-templated positive regulation of muscle contraction metal ion binding GTPase binding canonical glycolysis extracellular exosome cell cortex region negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway positive regulation of ATP biosynthetic process  uc001apj.1 uc001apj.2 uc001apj.3 uc001apj.4 
ENST00000234610.5 MMP23A ENST00000234610.5 Homo sapiens matrix metallopeptidase 23A (pseudogene) (MMP23A), non-coding RNA. (from RefSeq NR_002946) ENST00000234610.1 ENST00000234610.2 ENST00000234610.3 ENST00000234610.4 NR_002946 uc286dpe.1 This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN02400289 [ECO:0000348] ##Evidence-Data-END##  uc286dpe.1 
ENST00000234626.11 CDC7 ENST00000234626.11 Homo sapiens cell division cycle 7 (CDC7), transcript variant 1, mRNA. (from RefSeq NM_003503) CDC7L1 CDC7_HUMAN D3DT31 ENST00000234626.1 ENST00000234626.10 ENST00000234626.2 ENST00000234626.3 ENST00000234626.4 ENST00000234626.5 ENST00000234626.6 ENST00000234626.7 ENST00000234626.8 ENST00000234626.9 NM_003503 O00311 O00558 Q5T5U5 uc001doe.1 uc001doe.2 uc001doe.3 uc001doe.4 uc001doe.5 This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]. Seems to phosphorylate critical substrates that regulate the G1/S phase transition and/or DNA replication. Can phosphorylates MCM2 and MCM3. ATP + a protein = ADP + a phosphoprotein. Magnesium. Forms a complex with either DBF4/DBF4A or DBF4B, leading to the activation of the kinase activity. Nucleus. Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms may be produced; Name=1; IsoId=O00311-1; Sequence=Displayed; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC7 subfamily. Contains 1 protein kinase domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc7/"; G1/S transition of mitotic cell cycle nucleotide binding double-strand break repair via break-induced replication protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm DNA replication protein phosphorylation cell cycle positive regulation of cell proliferation positive regulation of nuclear cell cycle DNA replication positive regulation of G2/M transition of mitotic cell cycle kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation cell cycle phase transition intercellular bridge metal ion binding cell division negative regulation of G0 to G1 transition mitotic spindle  uc001doe.1 uc001doe.2 uc001doe.3 uc001doe.4 uc001doe.5 
ENST00000234668.6 SYDE2 ENST00000234668.6 synapse defective Rho GTPase homolog 2 (from HGNC SYDE2) AL834286 ENST00000234668.1 ENST00000234668.2 ENST00000234668.3 ENST00000234668.4 ENST00000234668.5 uc057hzz.1  uc057hzz.1 
ENST00000234677.7 SARS1 ENST00000234677.7 Homo sapiens seryl-tRNA synthetase 1 (SARS1), transcript variant 1, mRNA. (from RefSeq NM_006513) B2R6Y9 ENST00000234677.1 ENST00000234677.2 ENST00000234677.3 ENST00000234677.4 ENST00000234677.5 ENST00000234677.6 NM_006513 P49591 Q5T5C8 Q9NSE3 SARS SERS SYSC_HUMAN uc001dwu.1 uc001dwu.2 uc001dwu.3 uc001dwu.4 This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]. Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec). ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser). ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec). Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1. Homodimer. The tRNA molecule binds across the dimer (By similarity). Q8IXJ6:SIRT2; NbExp=1; IntAct=EBI-1053431, EBI-477232; Cytoplasm. Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily. negative regulation of transcription from RNA polymerase II promoter nucleotide binding RNA polymerase II core promoter proximal region sequence-specific DNA binding DNA binding RNA binding aminoacyl-tRNA ligase activity serine-tRNA ligase activity protein binding ATP binding nucleus cytoplasm cytosol translation tRNA aminoacylation for protein translation seryl-tRNA aminoacylation tRNA processing selenocysteine metabolic process negative regulation of angiogenesis ligase activity protein homodimerization activity extracellular exosome selenocysteinyl-tRNA(Sec) biosynthetic process negative regulation of vascular endothelial growth factor production  uc001dwu.1 uc001dwu.2 uc001dwu.3 uc001dwu.4 
ENST00000234701.7 CLCA1 ENST00000234701.7 May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. (from UniProt A8K7I4) A8K7I4 AF039400 B2RAV5 CACC1 CLCA1_HUMAN ENST00000234701.1 ENST00000234701.2 ENST00000234701.3 ENST00000234701.4 ENST00000234701.5 ENST00000234701.6 O95151 Q5TDF4 Q9UNF6 Q9UPC6 uc057ibt.1 May be involved in mediating calcium-activated chloride conductance. May play critical roles in goblet cell metaplasia, mucus hypersecretion, cystic fibrosis and AHR. May be involved in the regulation of mucus production and/or secretion by goblet cells. Involved in the regulation of tissue inflammation in the innate immune response. May play a role as a tumor suppressor. Induces MUC5AC. Secreted, extracellular space. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Protein that remains attached to the plasma membrane appeared to be predominantly localized to microvilli. Highly expressed in small intestine and colon namely in intestinal basal crypt epithelia and goblet cells, and appendix. Weakly expressed in uterus, testis and kidney. Expressed in the airways epithelium of both asthmatic and healthy patients. Expressed in the bronchial epithelium, especially in mucus- producing goblet cells. Expressed in normal turbinate mucosa and nasal polyp. Expressed in. By IL13/interleukin-13 in tracheobronchial epithelial cells. Up-regulated by histamine in a dose-dependent manner. Significantly down-regulated in colorectal cancer. Significantly up-regulated in the IL9-responsive mucus-producing epithelium of asthmatic patients. Significantly decreased in nasal polyp. Significantly increased by TNF in upper airway mucosa. Glycosylated. The 125-kDa product is processed and yields to two cell- surface-associated subunits, a 90-kDa protein and a group of 37-to 41-kDa proteins. Belongs to the CLCR family. Contains 1 VWFA domain. intracellular calcium activated chloride channel activity chloride channel activity extracellular region extracellular space plasma membrane integral component of plasma membrane microvillus proteolysis ion transport calcium ion transport chloride transport peptidase activity metallopeptidase activity membrane integral component of membrane hydrolase activity secretory granule ion transmembrane transport zymogen granule membrane metal ion binding cellular response to hypoxia chloride transmembrane transport  uc057ibt.1 
ENST00000234739.8 BCL9 ENST00000234739.8 Homo sapiens BCL9 transcription coactivator (BCL9), mRNA. (from RefSeq NM_004326) BCL9_HUMAN ENST00000234739.1 ENST00000234739.2 ENST00000234739.3 ENST00000234739.4 ENST00000234739.5 ENST00000234739.6 ENST00000234739.7 NM_004326 O00512 Q5T489 uc031uul.1 uc031uul.2 uc031uul.3 BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Y13620.1, SRR1803617.62371.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234739.8/ ENSP00000234739.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity (By similarity). Binds to beta-catenin (CTNNB1), PYGO1 and PYGO2. P18824:arm (xeno); NbExp=3; IntAct=EBI-533127, EBI-216128; Q6P1J9:CDC73; NbExp=2; IntAct=EBI-533127, EBI-930143; P35222:CTNNB1; NbExp=2; IntAct=EBI-533127, EBI-491549; Q9V9W8:pygo (xeno); NbExp=3; IntAct=EBI-533127, EBI-152653; Q9Y3Y4:PYGO1; NbExp=7; IntAct=EBI-533127, EBI-3397474; Nucleus (By similarity). Detected at low levels in thymus, prostate, testis, ovary and small intestine, and at lower levels in spleen, colon and blood. Phosphorylated upon DNA damage, probably by ATM or ATR. Note=A chromosomal aberration involving BCL9 is found in a patient with precusor B-cell acute lymphoblastic leukemia (ALL). Translocation t(1;14)(q21;q32). This translocation leaves the coding region intact, but may have pathogenic effects due to alterations in the expression level of BCL9. Several cases of translocations within the 3'-UTR of BCL9 have been found in B-cell malignancies. Belongs to the BCL9 family. It is uncertain whether Met-1 or Met-27 is the initiator. Sequence=CAA73942.1; Type=Frameshift; Positions=1391; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL9ID466.html"; transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cis-Golgi network beta-catenin binding myotube differentiation involved in skeletal muscle regeneration Wnt signaling pathway somatic stem cell population maintenance skeletal muscle cell differentiation positive regulation of transcription from RNA polymerase II promoter canonical Wnt signaling pathway beta-catenin-TCF complex assembly beta-catenin-TCF complex regulation of transforming growth factor beta receptor signaling pathway  uc031uul.1 uc031uul.2 uc031uul.3 
ENST00000234798.5 TPSG1 ENST00000234798.5 Homo sapiens tryptase gamma 1 (TPSG1), mRNA. (from RefSeq NM_012467) ENST00000234798.1 ENST00000234798.2 ENST00000234798.3 ENST00000234798.4 NM_012467 PRSS31 Q96RZ8 Q9C015 Q9NRQ8 Q9NRR2 Q9UBB2 TMT TRYG1_HUMAN uc002ckw.1 uc002ckw.2 uc002ckw.3 uc002ckw.4 Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2153946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Membrane; Single-pass membrane protein (Potential). Expressed in many tissues. There are two alleles; gamma-I and gamma-II which differ by 5 residues. Belongs to the peptidase S1 family. Tryptase subfamily. Contains 1 peptidase S1 domain. serine-type endopeptidase activity extracellular space integral component of plasma membrane proteolysis peptidase activity serine-type peptidase activity membrane integral component of membrane hydrolase activity  uc002ckw.1 uc002ckw.2 uc002ckw.3 uc002ckw.4 
ENST00000234816.7 ANGPTL1 ENST00000234816.7 Homo sapiens angiopoietin like 1 (ANGPTL1), transcript variant 1, mRNA. (from RefSeq NM_004673) ANG3 ANGL1_HUMAN ANGPT3 ARP1 ENST00000234816.1 ENST00000234816.2 ENST00000234816.3 ENST00000234816.4 ENST00000234816.5 ENST00000234816.6 NM_004673 O95841 PSEC0154 Q5T5Z5 UNQ162/PRO188 uc001gma.1 uc001gma.2 uc001gma.3 uc001gma.4 uc001gma.5 Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.47398.1, AY358278.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234816.7/ ENSP00000234816.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Secreted. Highly expressed in adrenal gland, placenta, thyroid gland, heart, skeletal muscle and small intestine. Weakly expressed in testis, ovary, colon, pancreas, kidney and stomach. Contains 1 fibrinogen C-terminal domain. receptor binding extracellular region extracellular space transmembrane receptor protein tyrosine kinase signaling pathway extracellular exosome  uc001gma.1 uc001gma.2 uc001gma.3 uc001gma.4 uc001gma.5 
ENST00000234827.6 TCEANC2 ENST00000234827.6 Homo sapiens transcription elongation factor A N-terminal and central domain containing 2 (TCEANC2), transcript variant 1, mRNA. (from RefSeq NM_153035) C1orf83 ENST00000234827.1 ENST00000234827.2 ENST00000234827.3 ENST00000234827.4 ENST00000234827.5 NM_153035 Q5T702 Q8N8N2 Q96MN5 TEAN2_HUMAN uc001cwt.1 uc001cwt.2 uc001cwt.3 Nucleus (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96MN5-1; Sequence=Displayed; Name=2; IsoId=Q96MN5-2; Sequence=VSP_025096; Belongs to the TCEANC2 family. Contains 1 TFIIS central domain. Contains 1 TFIIS N-terminal domain. Sequence=CAI22668.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding nucleus transcription, DNA-templated  uc001cwt.1 uc001cwt.2 uc001cwt.3 
ENST00000234831.10 TMEM59 ENST00000234831.10 Homo sapiens transmembrane protein 59 (TMEM59), transcript variant 2, mRNA. (from RefSeq NM_004872) B3KQL7 C1orf8 ENST00000234831.1 ENST00000234831.2 ENST00000234831.3 ENST00000234831.4 ENST00000234831.5 ENST00000234831.6 ENST00000234831.7 ENST00000234831.8 ENST00000234831.9 HSPC001 NM_004872 O75393 Q4VBP9 Q5T705 Q96KX7 Q9BXS4 TMM59_HUMAN UNQ169/PRO195 uc001cwp.1 uc001cwp.2 uc001cwp.3 uc001cwp.4 uc001cwp.5 This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Modulates the O-glycosylation and complex N- glycosylation steps occurring during the Golgi maturation of several proteins such as APP, BACE1, SEAP or PRNP. Inhibits APP transport to the cell surface and further shedding. Golgi apparatus membrane; Single-pass type I membrane protein. N-glycosylated. Belongs to the TMEM59 family. Sequence=AAC39890.1; Type=Frameshift; Positions=6; Sequence=AAH03106.1; Type=Erroneous initiation; Golgi cis cisterna Golgi trans cisterna Golgi membrane endopeptidase activity protein binding lysosome lysosomal membrane endosome late endosome Golgi apparatus Golgi medial cisterna plasma membrane proteolysis autophagy positive regulation of autophagy negative regulation of protein processing membrane integral component of membrane late endosome membrane extracellular exosome negative regulation of protein glycosylation in Golgi negative regulation of protein localization to plasma membrane  uc001cwp.1 uc001cwp.2 uc001cwp.3 uc001cwp.4 uc001cwp.5 
ENST00000234875.9 RPL22 ENST00000234875.9 Homo sapiens ribosomal protein L22 (RPL22), mRNA. (from RefSeq NM_000983) B2R495 ENST00000234875.1 ENST00000234875.2 ENST00000234875.3 ENST00000234875.4 ENST00000234875.5 ENST00000234875.6 ENST00000234875.7 ENST00000234875.8 NM_000983 P35268 Q6IBD1 RL22_HUMAN uc001amd.1 uc001amd.2 uc001amd.3 uc001amd.4 uc001amd.5 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22E family of ribosomal proteins. Its initiating methionine residue is post-translationally removed. The protein can bind specifically to Epstein-Barr virus-encoded RNAs (EBERs) 1 and 2. The mouse protein has been shown to be capable of binding to heparin. Transcript variants utilizing alternative polyA signals exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. It was previously thought that this gene mapped to 3q26 and that it was fused to the acute myeloid leukemia 1 (AML1) gene located at 21q22 in some therapy-related myelodysplastic syndrome patients with 3;21 translocations; however, these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26, and this gene actually maps to 1p36.3-p36.2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.436838.1, SRR3476690.1039763.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000234875.9/ ENSP00000346088.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to Epstein-Barr virus small RNAs and to heparin. Belongs to the ribosomal protein L22e family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation RNA binding structural constituent of ribosome protein binding nucleus cytoplasm cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane heparin binding viral transcription cytosolic large ribosomal subunit translation regulator activity alpha-beta T cell differentiation extracellular exosome presynapse glutamatergic synapse regulation of translation at presynapse, modulating synaptic transmission ribonucleoprotein complex  uc001amd.1 uc001amd.2 uc001amd.3 uc001amd.4 uc001amd.5 
ENST00000234961.7 OPRD1 ENST00000234961.7 Homo sapiens opioid receptor delta 1 (OPRD1), mRNA. (from RefSeq NM_000911) B5B0B8 ENST00000234961.1 ENST00000234961.2 ENST00000234961.3 ENST00000234961.4 ENST00000234961.5 ENST00000234961.6 NM_000911 OPRD OPRD_HUMAN P41143 uc001brf.1 uc001brf.2 uc001brf.3 Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Highly stereoselective. receptor for enkephalins. Interacts with GPRASP1. Q5JY77:GPRASP1; NbExp=2; IntAct=EBI-2624456, EBI-2514717; Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Wikipedia; Note=Delta opioid receptor entry; URL="http://en.wikipedia.org/wiki/Delta_opioid_receptor"; G-protein coupled receptor activity opioid receptor activity protein binding cytoplasm plasma membrane integral component of plasma membrane immune response signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway neuropeptide signaling pathway adult locomotory behavior negative regulation of gene expression membrane integral component of membrane cytokine-mediated signaling pathway integral component of synaptic vesicle membrane intrinsic component of plasma membrane negative regulation of protein complex assembly vesicle dendrite membrane positive regulation of CREB transcription factor activity positive regulation of peptidyl-serine phosphorylation receptor serine/threonine kinase binding opioid receptor signaling pathway enkephalin receptor activity peptide binding eating behavior neuropeptide binding axon terminus membrane raft postsynaptic membrane regulation of mitochondrial membrane potential regulation of calcium ion transport regulation of sensory perception of pain cellular response to growth factor stimulus cellular response to hypoxia cellular response to toxic substance spine apparatus neuronal dense core vesicle integral component of presynaptic membrane integral component of postsynaptic density membrane  uc001brf.1 uc001brf.2 uc001brf.3 
ENST00000235090.10 WDR77 ENST00000235090.10 Homo sapiens WD repeat domain 77 (WDR77), transcript variant 5, non-coding RNA. (from RefSeq NR_133654) B3KMW6 ENST00000235090.1 ENST00000235090.2 ENST00000235090.3 ENST00000235090.4 ENST00000235090.5 ENST00000235090.6 ENST00000235090.7 ENST00000235090.8 ENST00000235090.9 HKMT1069 MEP50 MEP50_HUMAN NR_133654 Nbla10071 Q3LID2 Q53FU2 Q6JZZ5 Q96GK4 Q9BQA1 Q9BWY3 uc001ebb.1 uc001ebb.2 uc001ebb.3 uc001ebb.4 uc001ebb.5 The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]. Non-catalytic component of the 20S PRMT5-containing methyltransferase complex, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles. Might play a role in transcription regulation. The 20S PRMT5-containing methyltransferase complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain- containing proteins and subsequent localization to the meiotic nuage. Component of the methylosome, a 20S complex containing at least PRMT5, CLNS1A and WDR77. Directly interacts with PRMT5, as well as with several Sm proteins, including SNRPB and SNRPD2 and, more weakly, SNRPD3 and SNRPE. Interacts with SUZ12 and histone H2A/HIST2H2AC, but not with histones H2B, H3 nor H4. Interacts with CTDP1 and LSM11. Interacts with APEX1, AR and NKX3-1. Nucleus. Cytoplasm. Note=Nuclear in Leydig cells and cytoplasmic in germ cells during fetal testicular development. In adult testis, predominantly nuclear. Subcellular location varies from nuclear to cytoplasmic in various tumors. Highly expressed in heart, skeletal muscle, spleen, testis, uterus, prostate and thymus. In testis, expressed in germ cells and Leydig cells, but not in peritubular myocytes, nor in Sertoli cells. Expressed in prostate cancers, in seminomas and in Leydig cell tumors. Expressed in Leydig cells during fetal testicular development, especially during the second semester. Germ cells expression is detected as early as 10 weeks of gestation. Contains 5 WD repeats. spliceosomal snRNP assembly protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol regulation of transcription from RNA polymerase II promoter positive regulation of cell proliferation negative regulation of cell proliferation methyl-CpG binding ligand-dependent nuclear receptor transcription coactivator activity methylosome secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development negative regulation of epithelial cell proliferation involved in prostate gland development positive regulation of nucleic acid-templated transcription  uc001ebb.1 uc001ebb.2 uc001ebb.3 uc001ebb.4 uc001ebb.5 
ENST00000235150.5 RNF19B ENST00000235150.5 Homo sapiens ring finger protein 19B (RNF19B), transcript variant 3, mRNA. (from RefSeq NM_001300826) ENST00000235150.1 ENST00000235150.2 ENST00000235150.3 ENST00000235150.4 IBRDC3 NKLAM NM_001300826 Q0VG77 Q5TH44 Q5TH45 Q6P6A4 Q6ZMZ0 Q8N2S8 Q8WUF3 RN19B_HUMAN uc010ohp.1 uc010ohp.2 uc010ohp.3 uc010ohp.4 This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]. E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as UCKL1. Involved in the cytolytic activity of natural killer cells and cytotoxic T-cells. Protein modification; protein ubiquitination. Interacts with UBE2L3, UBE2L6 and UCKL1. P68036:UBE2L3; NbExp=2; IntAct=EBI-2466594, EBI-711173; O14933:UBE2L6; NbExp=3; IntAct=EBI-2466594, EBI-2129974; Q9NWZ5:UCKL1; NbExp=4; IntAct=EBI-2466594, EBI-2466660; Cytoplasmic granule membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6ZMZ0-1; Sequence=Displayed; Name=2; IsoId=Q6ZMZ0-2; Sequence=VSP_028635, VSP_028633, VSP_028634; Name=3; IsoId=Q6ZMZ0-3; Sequence=VSP_028632, VSP_028635, VSP_028633, VSP_028634; Note=No experimental confirmation available; Name=4; IsoId=Q6ZMZ0-4; Sequence=VSP_028635; Expressed specifically in natural killer cells, activated macrophages and cytotoxic T-cells. Present in natural killer cells (at protein level). In natural killer cells, by IFNB1/IFN-beta and IL2/interleukin-2 (at protein level). The first IBR-type zinc finger is the most crucial for interaction with UBE2L3, UBE2L6 and UCKL1. Belongs to the RBR family. RNF19 subfamily. Contains 1 IBR-type zinc finger. Contains 2 RING-type zinc fingers. Sequence=AAI13561.1; Type=Erroneous initiation; Sequence=CAI19336.1; Type=Erroneous initiation; Sequence=EAX07490.1; Type=Erroneous initiation; ubiquitin ligase complex protein polyubiquitination adaptive immune response immune system process ubiquitin-protein transferase activity protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination transferase activity ubiquitin conjugating enzyme binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process ubiquitin binding cytolytic granule metal ion binding protein autoubiquitination ubiquitin protein ligase activity  uc010ohp.1 uc010ohp.2 uc010ohp.3 uc010ohp.4 
ENST00000235180.4 DLGAP3 ENST00000235180.4 May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane. (from UniProt O95886) AB527430 DAP3 DLGP3_HUMAN ENST00000235180.1 ENST00000235180.2 ENST00000235180.3 O95886 Q5TDD5 Q9H3X7 uc001byc.1 uc001byc.2 uc001byc.3 May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane. Interacts with DLG4/PSD-95 (By similarity). P16333:NCK1; NbExp=2; IntAct=EBI-1752541, EBI-389883; Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density of neuronal cells (By similarity). Belongs to the SAPAP family. Sequence=AAD20042.1; Type=Frameshift; Positions=833; beta-amyloid binding protein binding plasma membrane postsynaptic density membrane signaling cell junction neuromuscular junction synapse postsynaptic membrane glutamatergic synapse cholinergic synapse modification of synaptic structure postsynaptic specialization  uc001byc.1 uc001byc.2 uc001byc.3 
ENST00000235307.7 C1orf21 ENST00000235307.7 Homo sapiens chromosome 1 open reading frame 21 (C1orf21), mRNA. (from RefSeq NM_030806) B2R551 CA021_HUMAN ENST00000235307.1 ENST00000235307.2 ENST00000235307.3 ENST00000235307.4 ENST00000235307.5 ENST00000235307.6 NM_030806 PIG13 Q9H246 uc001gqv.1 uc001gqv.2 uc001gqv.3 Expressed in spleen, prostate, testis and uterus. protein binding  uc001gqv.1 uc001gqv.2 uc001gqv.3 
ENST00000235310.7 MAD2L2 ENST00000235310.7 Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation. (from UniProt Q9UI95) AK094316 B3KNE3 ENST00000235310.1 ENST00000235310.2 ENST00000235310.3 ENST00000235310.4 ENST00000235310.5 ENST00000235310.6 MAD2B MD2L2_HUMAN Q5TGW7 Q9UI95 Q9UNA7 Q9Y6I6 REV7 uc001asq.1 uc001asq.2 uc001asq.3 uc001asq.4 uc001asq.5 Adapter protein able to interact with different proteins and involved in different biological processes. Mediates the interaction between the error-prone DNA polymerase zeta catalytic subunit REV3L and the inserter polymerase REV1, thereby mediating the second polymerase switching in translesion DNA synthesis. Translesion DNA synthesis releases the replication blockade of replicative polymerases, stalled in presence of DNA lesions. May also regulate another aspect of cellular response to DNA damage through regulation of the JNK-mediated phosphorylation and activation of the transcriptional activator ELK1. Inhibits the FZR1- and probably CDC20-mediated activation of the anaphase promoting complex APC thereby regulating progression through the cell cycle. Regulates TCF7L2-mediated gene transcription and may play a role in epithelial-mesenchymal transdifferentiation. Homooligomer (Probable). Interacts with REV1. Interacts with ADAM9. Interacts with CHAMP1. Interacts with REV3L. Interacts with FZR1 (in complex with the anaphase promoting complex APC). Interacts with CDC20; PubMed:11459825 could not detect the interaction. Interacts with RAN. Interacts with ELK1; the interaction is direct and recruits MAD2L2 to ELK1-specific promoters. May interact with the JNK kinases MAPK8 and/or MAPK9 to stimulate ELK1 phosphorylation and transcriptional activity upon DNA damage. Interacts with TCF7L2; prevents its binding to promoters and negatively modulates its transcriptional activity. Interacts with YY1AP1. Interacts with S.flexneri protein ipaB; prevents the interaction of MAD2L2 with FZR1 and CDC20 resulting in an activation of the anaphase-promoting complex APC and a cell cycle arrest. Interacts with PRCC; the interaction is direct. Interacts with POGZ. Q13443:ADAM9; NbExp=3; IntAct=EBI-77889, EBI-77903; Q12834:CDC20; NbExp=2; IntAct=EBI-77889, EBI-367462; P30260:CDC27; NbExp=2; IntAct=EBI-77889, EBI-994813; Q9UM11:FZR1; NbExp=2; IntAct=EBI-77889, EBI-724997; P18011:ipaB (xeno); NbExp=7; IntAct=EBI-77889, EBI-490239; Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Ubiquitously expressed. Contains 1 HORMA domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mad2l2/"; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II activating transcription factor binding regulation of cell growth protein binding nucleus nucleoplasm chromosome nucleolus cytoplasm spindle cytosol cytoskeleton DNA repair double-strand break repair cellular response to DNA damage stimulus actin filament organization cell cycle mitotic spindle assembly checkpoint JUN kinase binding negative regulation of epithelial to mesenchymal transition negative regulation of transcription by competitive promoter binding zeta DNA polymerase complex positive regulation of peptidyl-serine phosphorylation site of double-strand break negative regulation of protein catabolic process error-prone translesion synthesis DNA damage response, signal transduction resulting in transcription negative regulation of sequence-specific DNA binding transcription factor activity positive regulation of isotype switching positive regulation of transcription, DNA-templated cell division negative regulation of canonical Wnt signaling pathway negative regulation of ubiquitin protein ligase activity negative regulation of double-strand break repair via homologous recombination negative regulation of cell-cell adhesion mediated by cadherin negative regulation of transcription regulatory region DNA binding positive regulation of double-strand break repair via nonhomologous end joining anaphase-promoting complex  uc001asq.1 uc001asq.2 uc001asq.3 uc001asq.4 uc001asq.5 
ENST00000235329.10 MFN2 ENST00000235329.10 Homo sapiens mitofusin 2 (MFN2), transcript variant 1, mRNA. (from RefSeq NM_014874) A8K1B3 CPRP1 ENST00000235329.1 ENST00000235329.2 ENST00000235329.3 ENST00000235329.4 ENST00000235329.5 ENST00000235329.6 ENST00000235329.7 ENST00000235329.8 ENST00000235329.9 KIAA0214 MFN2_HUMAN NM_014874 O95140 O95572 Q5JXC3 Q5JXC4 Q9H131 Q9NSX8 uc001atn.1 uc001atn.2 uc001atn.3 uc001atn.4 uc001atn.5 uc001atn.6 This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. Essential transmembrane GTPase, which mediates mitochondrial fusion. Fusion of mitochondria occurs in many cell types and constitutes an important step in mitochondria morphology, which is balanced between fusion and fission. MFN2 acts independently of the cytoskeleton. It therefore plays a central role in mitochondrial metabolism and may be associated with obesity and/or apoptosis processes. Overexpression induces the formation of mitochondrial networks. Plays an important role in the regulation of vascular smooth muscle cell proliferation. GTP + H(2)O = GDP + phosphate. Forms homomultimers and heteromultimers with MFN1. Oligomerization, which is mediated by the second coiled coil region, may play an essential role in mitochondrion fusion. Interacts with VAT1 (By similarity). Mitochondrion outer membrane; Multi-pass membrane protein. Note=Colocalizes with BAX during apoptosis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95140-1; Sequence=Displayed; Name=2; IsoId=O95140-2; Sequence=VSP_015159, VSP_015160, VSP_015161; Note=No experimental confirmation available; Ubiquitous; expressed at low level. Highly expressed in heart and kidney. Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]. CMT2A2 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Defects in MFN2 are the cause of Charcot-Marie-Tooth disease type 6 (CMT6) [MIM:601152]; also referred to as autosomal dominant hereditary motor and sensory neuropathy VI (HMSN6). CMT6 is an autosomal dominant form of axonal CMT associated with optic atrophy. Belongs to the mitofusin family. Sequence=BAA34389.2; Type=Erroneous initiation; Sequence=CAB70866.2; Type=Frameshift; Positions=581; Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MFN2"; nucleotide binding blastocyst formation GTPase activity protein binding GTP binding mitochondrion mitochondrial outer membrane cytosol protein targeting to mitochondrion autophagy apoptotic process response to unfolded protein mitochondrial membrane organization blood coagulation mitochondrial fusion microtubule cytoskeleton membrane integral component of membrane macroautophagy hydrolase activity intrinsic component of mitochondrial outer membrane ubiquitin protein ligase binding protein localization to pre-autophagosomal structure negative regulation of Ras protein signal transduction camera-type eye morphogenesis negative regulation of smooth muscle cell proliferation mitochondrion localization parkin-mediated mitophagy in response to mitochondrial depolarization positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell apoptotic process cell cycle arrest  uc001atn.1 uc001atn.2 uc001atn.3 uc001atn.4 uc001atn.5 uc001atn.6 
ENST00000235332.6 MIIP ENST00000235332.6 Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA. (from RefSeq NM_021933) C0KL22 ENST00000235332.1 ENST00000235332.2 ENST00000235332.3 ENST00000235332.4 ENST00000235332.5 IIP45 MIIP_HUMAN NM_021933 Q5JXC2 Q96HU6 Q9H839 Q9HA00 uc001ato.1 uc001ato.2 uc001ato.3 uc001ato.4 This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.769016.1, FJ618905.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235332.6/ ENSP00000235332.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Inhibits glioma cells invasion and down-regulates adhesion- and motility-associated genes such as NFKB2 and ICAM1. Exhibits opposing effects to IGFBP2 on cell invasion. Interacts with IGFBP2. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5JXC2-1; Sequence=Displayed; Name=2; Synonyms=IIP45S; IsoId=Q5JXC2-2; Sequence=VSP_032214; Ubiquitous. Isoform 1 is expressed in brain but underexpressed in glioma tissues, at protein level. Isoform 2 is not detected in normal organs, but is expressed in gliomas with increasing levels with glioma progression. On the contrary, at protein level, isoform 2 is not detected in gliomas, suggesting that this isoform is unstable in glioma cells. Up-regulated by IGFBP2. Isoform 2 is degraded by the ubiquitin-proteasome pathway. protein binding negative regulation of G2/M transition of mitotic cell cycle negative regulation of cell migration  uc001ato.1 uc001ato.2 uc001ato.3 uc001ato.4 
ENST00000235345.6 SLC35D1 ENST00000235345.6 Homo sapiens solute carrier family 35 member D1 (SLC35D1), mRNA. (from RefSeq NM_015139) A8K185 ENST00000235345.1 ENST00000235345.2 ENST00000235345.3 ENST00000235345.4 ENST00000235345.5 KIAA0260 NM_015139 Q52LU5 Q92548 Q9NTN3 S35D1_HUMAN UGTREL7 uc001ddk.1 uc001ddk.2 uc001ddk.3 uc001ddk.4 Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.12470.1, SRR1660809.38849.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235345.6/ ENSP00000235345.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transports both UDP-glucuronic acid (UDP-GlcA) and UDP- N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Ubiquitous. Defects in SLC35D1 are a cause of Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]. Schneckenbecken dysplagia is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. Belongs to the TPT transporter family. SLC35D subfamily. Sequence=BAA13390.1; Type=Erroneous initiation; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; UDP-glucuronic acid transmembrane transporter activity UDP-N-acetylglucosamine transmembrane transporter activity UDP-N-acetylgalactosamine transmembrane transporter activity endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus UDP-glucuronate biosynthetic process carbohydrate transport pyrimidine nucleotide-sugar transmembrane transporter activity antiporter activity UDP-glucuronic acid transport UDP-N-acetylgalactosamine transport membrane integral component of membrane transmembrane transporter activity chondroitin sulfate biosynthetic process embryonic skeletal system development pyrimidine nucleotide-sugar transmembrane transport UDP-N-acetylglucosamine transmembrane transport  uc001ddk.1 uc001ddk.2 uc001ddk.3 uc001ddk.4 
ENST00000235347.4 PRAMEF10 ENST00000235347.4 Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. (from RefSeq NM_001039361) ENST00000235347.1 ENST00000235347.2 ENST00000235347.3 NM_001039361 O60809 PRA10_HUMAN Q2M1V2 uc031tpi.1 uc031tpi.2 Belongs to the PRAME family. Contains 2 LRR (leucine-rich) repeats. Sequence=CAA17876.1; Type=Erroneous gene model prediction; cytoplasm positive regulation of cell proliferation negative regulation of apoptotic process negative regulation of cell differentiation negative regulation of transcription, DNA-templated  uc031tpi.1 uc031tpi.2 
ENST00000235349.6 PRAMEF4 ENST00000235349.6 Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. (from RefSeq NM_001009611) ENST00000235349.1 ENST00000235349.2 ENST00000235349.3 ENST00000235349.4 ENST00000235349.5 NM_001009611 O60810 PRAM4_HUMAN Q5LJB5 uc001aun.1 uc001aun.2 uc001aun.3 uc001aun.4 Belongs to the PRAME family. Contains 6 LRR (leucine-rich) repeats. Sequence=CAB41253.1; Type=Erroneous initiation; cytoplasm positive regulation of cell proliferation negative regulation of apoptotic process negative regulation of cell differentiation negative regulation of transcription, DNA-templated  uc001aun.1 uc001aun.2 uc001aun.3 uc001aun.4 
ENST00000235372.11 PRDM2 ENST00000235372.11 Homo sapiens PR/SET domain 2 (PRDM2), transcript variant 2, mRNA. (from RefSeq NM_015866) ENST00000235372.1 ENST00000235372.10 ENST00000235372.2 ENST00000235372.3 ENST00000235372.4 ENST00000235372.5 ENST00000235372.6 ENST00000235372.7 ENST00000235372.8 ENST00000235372.9 KMT8 NM_015866 PRDM2_HUMAN Q13029 Q13149 Q14550 Q5VUL9 RIZ uc001avi.1 uc001avi.2 uc001avi.3 This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Binds to the retinoblastoma protein (RB). Interacts with GATA3. Nucleus. Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=1; Synonyms=RIZ1; IsoId=Q13029-1; Sequence=Displayed; Name=2; Synonyms=MTB-Zf; IsoId=Q13029-2; Sequence=VSP_006927, VSP_006928; Note=No experimental confirmation available; Name=3; Synonyms=RIZ2; IsoId=Q13029-3; Sequence=VSP_018974; Note=Produced by alternative initiation at Met-202 of isoform 1; Highly expressed in retinoblastoma cell lines and in brain tumors. Also expressed in a number of other cell lines and in brain, heart, skeletal muscle, liver and spleen. Isoform 1 is expressed in testis at much higher level than isoform 3. Contains 8 C2H2-type zinc fingers. Contains 1 SET domain. Sequence=BAA08110.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRDM2ID41834ch1p36.html"; RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus Golgi apparatus regulation of transcription, DNA-templated methyltransferase activity zinc ion binding determination of adult lifespan transferase activity histone-lysine N-methyltransferase activity chromatin DNA binding methylation histone lysine methylation sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding  uc001avi.1 uc001avi.2 uc001avi.3 
ENST00000235382.7 RGS2 ENST00000235382.7 Homo sapiens regulator of G protein signaling 2 (RGS2), mRNA. (from RefSeq NM_002923) ENST00000235382.1 ENST00000235382.2 ENST00000235382.3 ENST00000235382.4 ENST00000235382.5 ENST00000235382.6 G0S8 GIG31 NM_002923 P41220 Q6I9U5 RGS2_HUMAN uc001gsl.1 uc001gsl.2 uc001gsl.3 uc001gsl.4 uc001gsl.5 Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1095256.1, SRR3476690.817888.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235382.7/ ENSP00000235382.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. May play a role in leukemogenesis. Plays a role in negative feedback control pathway for adenylyl cyclase signaling. Binds EIF2B5 and blocks its activity, thereby inhibiting the translation of mRNA into protein. Interacts with EIF2B5. Interacts with PRKG1 (isoform alpha). Isoform 1: Cell membrane. Cytoplasm. Nucleus, nucleolus. Isoform 2: Cell membrane. Cytoplasm. Nucleus, nucleolus. Isoform 3: Cell membrane. Cytoplasm. Nucleus, nucleolus. Isoform 4: Cell membrane. Mitochondrion. Event=Alternative initiation; Named isoforms=4; Name=1; IsoId=P41220-1; Sequence=Displayed; Name=2; IsoId=P41220-2; Sequence=VSP_041296; Name=3; IsoId=P41220-3; Sequence=VSP_041297; Note=Lacks type V adenylyl cyclase (AC) inhibitory function; Name=4; IsoId=P41220-4; Sequence=VSP_041298; Note=Lacks type V adenylyl cyclase (AC) inhibitory function; Expressed in acute myelogenous leukemia (AML) and in acute lymphoblastic leukemia (ALL). Phosphorylated by protein kinase C. Phosphorylation by PRKG1 leads to activation of RGS2 activity. Contains 1 RGS domain. G-protein alpha-subunit binding response to amphetamine GTPase activity GTPase activator activity protein binding calmodulin binding nucleus nucleolus cytoplasm mitochondrion cytosol plasma membrane regulation of translation cell cycle G-protein coupled receptor signaling pathway spermatogenesis brain development regulation of G-protein coupled receptor protein signaling pathway cytoplasmic side of plasma membrane negative regulation of signal transduction negative regulation of phospholipase activity negative regulation of cardiac muscle hypertrophy positive regulation of neuron projection development membrane negative regulation of translation ovulation neuron projection negative regulation of MAP kinase activity positive regulation of GTPase activity negative regulation of cAMP-mediated signaling response to ethanol negative regulation of G-protein coupled receptor protein signaling pathway beta-tubulin binding brown fat cell differentiation relaxation of cardiac muscle relaxation of vascular smooth muscle maternal process involved in female pregnancy positive regulation of cardiac muscle contraction negative regulation of cell growth involved in cardiac muscle cell development negative regulation of glycine import  uc001gsl.1 uc001gsl.2 uc001gsl.3 uc001gsl.4 uc001gsl.5 
ENST00000235453.8 DENND1B ENST00000235453.8 Homo sapiens DENN domain containing 1B (DENND1B), transcript variant 5, mRNA. (from RefSeq NM_001300858) B5MD89 C1orf218 D3PFD5 DEN1B_HUMAN ENST00000235453.1 ENST00000235453.2 ENST00000235453.3 ENST00000235453.4 ENST00000235453.5 ENST00000235453.6 ENST00000235453.7 FAM31B NM_001300858 Q5T3B8 Q5T3B9 Q5T3C1 Q5TAI8 Q6B0I8 Q6P3S1 Q8NDT1 Q8TBE6 Q9H774 Q9NXU2 uc001gue.1 uc001gue.2 uc001gue.3 uc001gue.4 Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]. Guanine nucleotide exchange factor (GEF) for RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. May play a role in clathrin- mediated endocytosis. Interacts with RAB35. Interacts with clathrin heavy chain/CLTC and with AP2A2. Isoform 5 interacts with AP2B1. Cytoplasm, cytosol (By similarity). Cytoplasmic vesicle, clathrin-coated vesicle (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=DENND1B-S; IsoId=Q6P3S1-1; Sequence=Displayed; Name=2; IsoId=Q6P3S1-2; Sequence=VSP_028083; Name=3; IsoId=Q6P3S1-3; Sequence=VSP_028083, VSP_028084, VSP_028085; Note=No experimental confirmation available; Name=4; IsoId=Q6P3S1-4; Sequence=VSP_028082, VSP_028083; Note=No experimental confirmation available; Name=5; IsoId=Q6P3S1-5; Sequence=VSP_034515; Note=Phosphorylated on Tyr-475, Tyr-484, Ser-514 and Ser-652. Mutations at Lys-502 almost completely abolishes AP2B1-binding, mutations at Lys-500 and Lys-509 greatly reduce AP2B1-binding. Mutations at Lys-489 causes only a slight reduction in AP2B1-binding, while mutations at Arg-501 or Arg-507 have no effect. Ref.6 (DAA12502) sequence is in conflict in position: 664:K->R; Highly expressed in dendritic and natural killer cells and at lower levels in other myeloid lineage cells and in pituitary. Significantly up-regulated in effector memory T- cells as compared with naive T-cells. Isoform 5 is phosphorylated on Tyr-475, Tyr-484, Ser-514 and Ser-652. Contains 1 dDENN domain. Contains 1 DENN domain. Contains 1 uDENN domain. Sequence=AAH74735.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA90918.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15024.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW91280.1; Type=Erroneous gene model prediction; guanyl-nucleotide exchange factor activity cytoplasm cytosol endocytosis protein transport nuclear speck Rab guanyl-nucleotide exchange factor activity Rab GTPase binding clathrin-coated vesicle cytoplasmic vesicle endocytic recycling T-helper 2 cell cytokine production intracellular membrane-bounded organelle positive regulation of GTPase activity regulation of immune response T cell receptor signaling pathway phosphatidylinositol phosphate binding  uc001gue.1 uc001gue.2 uc001gue.3 uc001gue.4 
ENST00000235521.5 WARS2 ENST00000235521.5 Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_015836) B1ALR1 B2R9D4 ENST00000235521.1 ENST00000235521.2 ENST00000235521.3 ENST00000235521.4 NM_015836 Q53FT4 Q5VUD2 Q86TQ0 Q9UGM6 SYWM_HUMAN uc001ehn.1 uc001ehn.2 uc001ehn.3 uc001ehn.4 uc001ehn.5 Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. ATP + L-tryptophan + tRNA(Trp) = AMP + diphosphate + L-tryptophyl-tRNA(Trp). Mitochondrion matrix. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UGM6-1; Sequence=Displayed; Name=2; IsoId=Q9UGM6-2; Sequence=VSP_041414, VSP_041415; Belongs to the class-I aminoacyl-tRNA synthetase family. nucleotide binding vasculogenesis aminoacyl-tRNA ligase activity tryptophan-tRNA ligase activity ATP binding mitochondrion mitochondrial matrix cytosol plasma membrane translation tRNA aminoacylation for protein translation tryptophanyl-tRNA aminoacylation ligase activity mitochondrial tryptophanyl-tRNA aminoacylation  uc001ehn.1 uc001ehn.2 uc001ehn.3 uc001ehn.4 uc001ehn.5 
ENST00000235532.9 OSCP1 ENST00000235532.9 Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA. (from RefSeq NM_145047) A6NHM5 A6NHS9 A6NIN9 C1orf102 ENST00000235532.1 ENST00000235532.2 ENST00000235532.3 ENST00000235532.4 ENST00000235532.5 ENST00000235532.6 ENST00000235532.7 ENST00000235532.8 NM_145047 NOR1 OSCP1_HUMAN Q4AEJ0 Q8N7G2 Q8TDF1 Q8WVF1 uc001caq.1 uc001caq.2 uc001caq.3 uc001caq.4 May be involved in drug clearance in the placenta. Kinetic parameters: KM=35.0 uM for p-aminohippurate (PAH); KM=62.3 uM for tetraethylammonium; Note=In Xenopus laevis oocytes, in a sodium-independent manner; Basal cell membrane. Note=Syncytiotrophoblast in placenta. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8WVF1-1; Sequence=Displayed; Name=2; IsoId=Q8WVF1-2; Sequence=VSP_020826; Note=No experimental confirmation available; Name=3; IsoId=Q8WVF1-3; Sequence=VSP_039475; Name=4; IsoId=Q8WVF1-4; Sequence=VSP_039475, VSP_039476, VSP_039477; Expressed predominantly in testis, also found in placenta and to a lesser extent in thymus and small intestine; abundantly expressed in tumor-derived cell lines (PubMed:16006562). Ubiquitously expressed (PubMed:12819961). May be involved in the development and/or progression of nosopharyngeal carcinoma. The polymorphism 'Glu58Gly' (described in PubMed:12819961) is in fact an error, the G to A change described representing a synonymous mutation that does not induce any amino acid change in Gly-32. Sequence=AAL89738.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; cytoplasm plasma membrane basal plasma membrane membrane transmembrane transporter activity drug transmembrane export  uc001caq.1 uc001caq.2 uc001caq.3 uc001caq.4 
ENST00000235628.2 NT5C1A ENST00000235628.2 Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA. (from RefSeq NM_032526) 5NT1A_HUMAN ENST00000235628.1 NM_032526 Q3SYB9 Q5TG98 Q9BWT8 Q9BXI3 uc001cdq.1 uc001cdq.2 Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC103879.1, AF331801.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145544, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides and has a broad substrate specificity. Helps to regulate adenosine levels in heart during ischemia and hypoxia. A 5'-ribonucleotide + H(2)O = a ribonucleoside + phosphate. Magnesium. Activated by ADP. Cytoplasm. Highly expressed in skeletal muscle. Detected at intermediate levels in heart, brain, kidney and pancreas. Belongs to the 5'-nucleotidase type 3 family. nucleotide binding magnesium ion binding protein binding cytoplasm cytosol purine nucleotide catabolic process 5'-nucleotidase activity nucleoside metabolic process nucleotide metabolic process purine nucleoside monophosphate catabolic process dephosphorylation hydrolase activity adenosine metabolic process pyrimidine nucleoside catabolic process  uc001cdq.1 uc001cdq.2 
ENST00000235790.9 KDM5B ENST00000235790.9 Contains 1 JmjC domain. (from UniProt B3KV94) AK122752 B3KV94 B3KV94_HUMAN ENST00000235790.1 ENST00000235790.2 ENST00000235790.3 ENST00000235790.4 ENST00000235790.5 ENST00000235790.6 ENST00000235790.7 ENST00000235790.8 JARID1B hCG_2027322 uc057omq.1 uc057omq.2 Contains 1 JmjC domain. DNA binding nucleus cytosol metal ion binding  uc057omq.1 uc057omq.2 
ENST00000235835.8 AKR7A2 ENST00000235835.8 Homo sapiens aldo-keto reductase family 7 member A2 (AKR7A2), transcript variant 1, mRNA. (from RefSeq NM_003689) ENST00000235835.1 ENST00000235835.2 ENST00000235835.3 ENST00000235835.4 ENST00000235835.5 ENST00000235835.6 ENST00000235835.7 NM_003689 V9HWA2 uc001bbw.1 uc001bbw.2 uc001bbw.3 uc001bbw.4 uc001bbw.5 The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU794591.1, BK000395.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END##  uc001bbw.1 uc001bbw.2 uc001bbw.3 uc001bbw.4 uc001bbw.5 
ENST00000235878.5 GBP3 ENST00000235878.5 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F6SPX6) AK001823 ENST00000235878.1 ENST00000235878.2 ENST00000235878.3 ENST00000235878.4 F6SPX6 F6SPX6_HUMAN uc057idn.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleotide binding GTPase activity GTP binding membrane  uc057idn.1 
ENST00000235932.8 RAB29 ENST00000235932.8 Belongs to the small GTPase superfamily. Rab family. (from UniProt Q6FGU7) BX647960 ENST00000235932.1 ENST00000235932.2 ENST00000235932.3 ENST00000235932.4 ENST00000235932.5 ENST00000235932.6 ENST00000235932.7 Q6FGU7 Q6FGU7_HUMAN RAB7L1 hCG_19156 uc001hde.1 uc001hde.2 uc001hde.3 uc001hde.4 uc001hde.5 Belongs to the small GTPase superfamily. Rab family. GTPase activity protein binding GTP binding Golgi apparatus trans-Golgi network vesicle-mediated transport GDP binding vesicle regulation of retrograde transport, endosome to Golgi  uc001hde.1 uc001hde.2 uc001hde.3 uc001hde.4 uc001hde.5 
ENST00000235933.10 CD160 ENST00000235933.10 CD160 molecule (from HGNC CD160) BC014465 ENST00000235933.1 ENST00000235933.2 ENST00000235933.3 ENST00000235933.4 ENST00000235933.5 ENST00000235933.6 ENST00000235933.7 ENST00000235933.8 ENST00000235933.9 Q6FH89 Q6FH89_HUMAN RP11-373C9.1-006 hCG_1762288 uc057kap.1 mucosal immune response regulation of adaptive immune response positive regulation of natural killer cell mediated immune response to tumor cell transmembrane signaling receptor activity plasma membrane MHC class I protein complex binding defense response to Gram-negative bacterium positive regulation of interferon-gamma secretion  uc057kap.1 
ENST00000235958.4 HMGCL ENST00000235958.4 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H0Y2L7) AK300733 ENST00000235958.1 ENST00000235958.2 ENST00000235958.3 H0Y2L7 H0Y2L7_HUMAN uc057dhp.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. catalytic activity hydroxymethylglutaryl-CoA lyase activity  uc057dhp.1 
ENST00000236017.5 APH1A ENST00000236017.5 aph-1 homolog A, gamma-secretase subunit (from HGNC APH1A) A6NM39 BC068606 ENST00000236017.1 ENST00000236017.2 ENST00000236017.3 ENST00000236017.4 Q5TB21 Q5TB21_HUMAN RP4-790G17.3-008 uc057kno.1 membrane integral component of membrane protein processing positive regulation of catalytic activity  uc057kno.1 
ENST00000236040.8 P3H1 ENST00000236040.8 Homo sapiens prolyl 3-hydroxylase 1 (P3H1), transcript variant 3, mRNA. (from RefSeq NM_001243246) ENST00000236040.1 ENST00000236040.2 ENST00000236040.3 ENST00000236040.4 ENST00000236040.5 ENST00000236040.6 ENST00000236040.7 GROS1 LEPRE1 NM_001243246 P3H1_HUMAN PSEC0109 Q32P28 Q7KZR4 Q96BR8 Q96SK8 Q96SL5 Q96SN3 Q9H6K3 Q9HC86 Q9HC87 uc001chx.1 uc001chx.2 uc001chx.3 uc001chx.4 uc001chx.5 This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]. Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro- Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2). Iron (By similarity). Ascorbate (By similarity). Endoplasmic reticulum (By similarity). Secreted, extracellular space, extracellular matrix (By similarity). Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=GROS1-L; IsoId=Q32P28-1; Sequence=Displayed; Name=2; Synonyms=GROS1-S; IsoId=Q32P28-2; Sequence=VSP_019346, VSP_019347; Name=3; IsoId=Q32P28-3; Sequence=VSP_019348; Note=No experimental confirmation available; O-glycosylated; chondroitin sulfate (By similarity). Defects in LEPRE1 are the cause of osteogenesis imperfecta type 8 (OI8) [MIM:610915]. A connective tissue disorder characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. Belongs to the leprecan family. Contains 1 Fe2OG dioxygenase domain. Contains 4 TPR repeats. Sequence=AAH15309.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI08312.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAB15256.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LEPRE1"; Name=Osteogenesis imperfecta variant database; Note=Prolyl 3-hydroxylase 1 (LEPRE1); URL="http://oi.gene.le.ac.uk/home.php?select_db=LEPRE1"; molecular_function iron ion binding protein binding extracellular region nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum lumen protein folding negative regulation of cell proliferation positive regulation of neuron projection development membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen protein hydroxylation peptidyl-proline hydroxylation procollagen-proline 3-dioxygenase activity L-ascorbic acid binding collagen metabolic process macromolecular complex metal ion binding regulation of protein secretion protein stabilization dioxygenase activity oxidation-reduction process bone development chaperone-mediated protein folding extracellular exosome negative regulation of post-translational protein modification collagen binding  uc001chx.1 uc001chx.2 uc001chx.3 uc001chx.4 uc001chx.5 
ENST00000236051.3 EBNA1BP2 ENST00000236051.3 Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 2, mRNA. (from RefSeq NM_006824) EBP2 EBP2_HUMAN ENST00000236051.1 ENST00000236051.2 NM_006824 Q96A66 Q99848 uc001cin.1 uc001cin.2 uc001cin.3 uc001cin.4 uc001cin.5 Required for the processing of the 27S pre-rRNA (By similarity). Specifically interacts with EBV EBNA1. The EBNA1-EBP2 interaction is important for the stable segregation of EBV episomes during cell division. Nucleus, nucleolus. Note=Associated with the nucleolus in an RNA-dependent manner. Ubiquitous. Belongs to the EBP2 family. RNA binding protein binding nucleus nucleolus rRNA processing preribosome, large subunit precursor nuclear periphery ribosome biogenesis ribosomal large subunit biogenesis  uc001cin.1 uc001cin.2 uc001cin.3 uc001cin.4 uc001cin.5 
ENST00000236067.8 ATP6V0B ENST00000236067.8 Homo sapiens ATPase H+ transporting V0 subunit b (ATP6V0B), transcript variant 2, mRNA. (from RefSeq NM_001039457) ATP6F ENST00000236067.1 ENST00000236067.2 ENST00000236067.3 ENST00000236067.4 ENST00000236067.5 ENST00000236067.6 ENST00000236067.7 NM_001039457 Q6IB32 Q99437 VATO_HUMAN uc001cle.1 uc001cle.2 uc001cle.3 uc001cle.4 This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. Interacts with IFITM3 (By similarity). Vacuole membrane; Multi-pass membrane protein. Ubiquitous. Belongs to the V-ATPase proteolipid subunit family. transporter activity vacuole vacuolar membrane ion transport insulin receptor signaling pathway endosome membrane hydrogen ion transmembrane transporter activity membrane integral component of membrane regulation of macroautophagy phagocytic vesicle membrane proton-transporting two-sector ATPase complex, proton-transporting domain proton-transporting V-type ATPase, V0 domain transferrin transport ion transmembrane transport proton-transporting ATPase activity, rotational mechanism phagosome acidification hydrogen ion transmembrane transport  uc001cle.1 uc001cle.2 uc001cle.3 uc001cle.4 
ENST00000236137.10 SLC19A2 ENST00000236137.10 Homo sapiens solute carrier family 19 member 2 (SLC19A2), transcript variant 1, mRNA. (from RefSeq NM_006996) B2R9H0 B4E1X4 ENST00000236137.1 ENST00000236137.2 ENST00000236137.3 ENST00000236137.4 ENST00000236137.5 ENST00000236137.6 ENST00000236137.7 ENST00000236137.8 ENST00000236137.9 NM_006996 O60779 Q8WV87 Q9UBL7 Q9UKJ2 Q9UN31 Q9UN43 S19A2_HUMAN THT1 TRMA uc001gge.1 uc001gge.2 uc001gge.3 uc001gge.4 uc001gge.5 uc001gge.6 This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]. High-affinity transporter for the intake of thiamine. Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60779-1; Sequence=Displayed; Name=2; IsoId=O60779-2; Sequence=VSP_036467; Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]; also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. Sequence=BAG64936.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC19A2"; protein binding plasma membrane folic acid transporter activity thiamine transmembrane transporter activity folic acid transport thiamine transport membrane integral component of membrane thiamine-containing compound metabolic process vitamin transport transmembrane transport thiamine transmembrane transport vitamin transmembrane transporter activity  uc001gge.1 uc001gge.2 uc001gge.3 uc001gge.4 uc001gge.5 uc001gge.6 
ENST00000236147.6 SELL ENST00000236147.6 Homo sapiens selectin L (SELL), transcript variant 2, non-coding RNA. (from RefSeq NR_029467) B2R6Q8 ENST00000236147.1 ENST00000236147.2 ENST00000236147.3 ENST00000236147.4 ENST00000236147.5 LNHR LYAM1 LYAM1_HUMAN NR_029467 P14151 P15023 Q9UJ43 uc001ggk.1 uc001ggk.2 uc001ggk.3 uc001ggk.4 uc001ggk.5 This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]. Cell surface adhesion protein. Mediates the adherence of lymphocytes to endothelial cells of high endothelial venules in peripheral lymph nodes. Promotes initial tethering and rolling of leukocytes in endothelia. Interaction with PSGL1/SELPLG and PODXL2 is required for promoting recruitment and rolling of leukocytes. This interaction is dependent on the sialyl Lewis X glycan modification of PSGL1 and PODXL2, and tyrosine sulfation modifications of PSGL1. Sulfation on 'Tyr-51' of PSGL1 is important for L-selectin binding. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P14151-1; Sequence=Displayed; Name=2; IsoId=P14151-2; Sequence=VSP_042650; Note=No experimental confirmation available; Expressed in B-cell lines and T-lymphocytes. Belongs to the selectin/LECAM family. Contains 1 C-type lectin domain. Contains 1 EGF-like domain. Contains 2 Sushi (CCP/SCR) domains. Sequence=CAA34203.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB43536.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB43537.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/sell/"; Name=Functional Glycomics Gateway - Glycan Binding; Note=L-selectin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_234"; protease binding calcium ion binding protein binding plasma membrane integral component of plasma membrane cell adhesion heparin binding membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules carbohydrate binding secretory granule membrane glycosphingolipid binding neutrophil degranulation metal ion binding regulation of immune response leukocyte migration leukocyte tethering or rolling oligosaccharide binding  uc001ggk.1 uc001ggk.2 uc001ggk.3 uc001ggk.4 uc001ggk.5 
ENST00000236166.4 FMO6P ENST00000236166.4 flavin containing monooxygenase 6 pseudogene (from HGNC FMO6P) AK130511 ENST00000236166.1 ENST00000236166.2 ENST00000236166.3 uc286fbe.1  uc286fbe.1 
ENST00000236192.12 VAMP4 ENST00000236192.12 Homo sapiens vesicle associated membrane protein 4 (VAMP4), transcript variant 1, mRNA. (from RefSeq NM_003762) ENST00000236192.1 ENST00000236192.10 ENST00000236192.11 ENST00000236192.2 ENST00000236192.3 ENST00000236192.4 ENST00000236192.5 ENST00000236192.6 ENST00000236192.7 ENST00000236192.8 ENST00000236192.9 NM_003762 Q6IAZ3 Q6IAZ3_HUMAN RP4-560B9.3-004 hCG_37824 uc001ghx.1 uc001ghx.2 uc001ghx.3 uc001ghx.4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]. Contains 1 v-SNARE coiled-coil homology domain. synaptic vesicle membrane integral component of membrane synaptic vesicle to endosome fusion vesicle-mediated transport integral component of synaptic vesicle membrane regulation of synaptic vesicle endocytosis  uc001ghx.1 uc001ghx.2 uc001ghx.3 uc001ghx.4 
ENST00000236255.4 GRHL3 ENST00000236255.4 Homo sapiens grainyhead like transcription factor 3 (GRHL3), transcript variant 1, mRNA. (from RefSeq NM_021180) ENST00000236255.1 ENST00000236255.2 ENST00000236255.3 GRHL3_HUMAN NM_021180 Q5TH78 Q86Y06 Q8N407 Q8TE85 SOM TFCP2L4 uc001biy.1 uc001biy.2 uc001biy.3 uc001biy.4 This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]. May function as a transcription factor. Homodimer, also forms heterodimers with GRHL1 and GRHL2. Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8TE85-1; Sequence=Displayed; Name=2; IsoId=Q8TE85-2; Sequence=VSP_017645, VSP_017646; Name=3; IsoId=Q8TE85-3; Sequence=VSP_017644, VSP_017646; Note=No experimental confirmation available; Name=4; IsoId=Q8TE85-4; Sequence=VSP_017643, VSP_017646; Expressed in brain, colon, pancreas, placenta and kidney. Isoform 1 is expressed in lung and tonsil. Isoform 2 is prostate-specific. Belongs to the grh/CP2 family. Grainyhead subfamily. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding establishment of planar polarity neural tube closure DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter pattern specification process ectoderm development central nervous system development epidermis development positive regulation of gene expression chromatin DNA binding regulation of actin cytoskeleton organization wound healing positive regulation of GTPase activity sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter eyelid development in camera-type eye establishment of skin barrier cochlea morphogenesis planar cell polarity pathway involved in neural tube closure  uc001biy.1 uc001biy.2 uc001biy.3 uc001biy.4 
ENST00000236273.9 SYF2 ENST00000236273.9 Homo sapiens SYF2 pre-mRNA splicing factor (SYF2), transcript variant 1, mRNA. (from RefSeq NM_015484) CBPIN ENST00000236273.1 ENST00000236273.2 ENST00000236273.3 ENST00000236273.4 ENST00000236273.5 ENST00000236273.6 ENST00000236273.7 ENST00000236273.8 GCIPIP NM_015484 O95926 Q5TH73 SYF2_HUMAN uc001bjt.1 uc001bjt.2 uc001bjt.3 This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. May be involved in pre-mRNA splicing (By similarity). Identified in the spliceosome C complex. Interacts with CCNDBP1. Nucleus. Abundantly expressed in the heart, skeletal muscle and kidney. Expressed at lower level other tissues. Belongs to the SYF2 family. Sequence=CAI21417.1; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome Prp19 complex in utero embryonic development RNA binding protein binding nucleus nucleoplasm spliceosomal complex mRNA processing mitotic G2 DNA damage checkpoint gastrulation positive regulation of cell proliferation RNA splicing nuclear speck embryonic organ development U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome post-mRNA release spliceosomal complex  uc001bjt.1 uc001bjt.2 uc001bjt.3 
ENST00000236342.12 DHDDS ENST00000236342.12 Homo sapiens dehydrodolichyl diphosphate synthase subunit (DHDDS), transcript variant 1, mRNA. (from RefSeq NM_205861) D3DPK7 D3DPK8 D3DPK9 DHDDS_HUMAN E9KL43 ENST00000236342.1 ENST00000236342.10 ENST00000236342.11 ENST00000236342.2 ENST00000236342.3 ENST00000236342.4 ENST00000236342.5 ENST00000236342.6 ENST00000236342.7 ENST00000236342.8 ENST00000236342.9 HDS NM_205861 Q5T0A4 Q86SQ9 Q8NE90 Q9BTG5 Q9BTK3 Q9H905 uc001bml.1 uc001bml.2 uc001bml.3 uc001bml.4 uc001bml.5 The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein. Protein modification; protein glycosylation. Interacts with NUS1/NgBR, the interaction is required for efficient activity. Interacts with NPC2. Endoplasmic reticulum membrane; Peripheral membrane protein. Note=colocalizes with calnexin. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q86SQ9-1; Sequence=Displayed; Name=2; IsoId=Q86SQ9-2; Sequence=VSP_010031; Name=3; IsoId=Q86SQ9-3; Sequence=VSP_010030; Note=May be due to exon skipping; Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus. Defects in DHDDS are the cause of retinitis pigmentosa type 59 (RP59) [MIM:613861]. RP59 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Belongs to the UPP synthase family. polyprenyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane protein glycosylation dolichyl diphosphate biosynthetic process lipid metabolic process membrane polyprenol biosynthetic process transferase activity transferase activity, transferring alkyl or aryl (other than methyl) groups dehydrodolichyl diphosphate synthase activity dehydrodolichyl diphosphate synthase complex  uc001bml.1 uc001bml.2 uc001bml.3 uc001bml.4 uc001bml.5 
ENST00000236412.11 PPP1R8 ENST00000236412.11 Homo sapiens protein phosphatase 1 regulatory subunit 8 (PPP1R8), transcript variant 3, mRNA. (from RefSeq NM_002713) ENST00000236412.1 ENST00000236412.10 ENST00000236412.2 ENST00000236412.3 ENST00000236412.4 ENST00000236412.5 ENST00000236412.6 ENST00000236412.7 ENST00000236412.8 ENST00000236412.9 NM_002713 Q6ICT4 Q6ICT4_HUMAN RP4-547C9.1-003 hCG_2032356 uc001box.1 uc001box.2 uc001box.3 This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]. nucleoplasm nuclear speck  uc001box.1 uc001box.2 uc001box.3 
ENST00000236495.9 SLC5A9 ENST00000236495.9 Homo sapiens solute carrier family 5 member 9 (SLC5A9), transcript variant 1, mRNA. (from RefSeq NM_001135181) B3KY87 ENST00000236495.1 ENST00000236495.2 ENST00000236495.3 ENST00000236495.4 ENST00000236495.5 ENST00000236495.6 ENST00000236495.7 ENST00000236495.8 NM_001135181 Q2M3M2 Q5TET3 SC5A9_HUMAN SGLT4 uc001crn.1 uc001crn.2 uc001crn.3 Involved in sodium-dependent transport of D-mannose, D- glucose and D-fructose. Membrane; Multi-pass membrane protein (Potential). Expressed in the small intestine, kidney and liver. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Sequence=CAI18915.1; Type=Erroneous gene model prediction; low-affinity glucose:sodium symporter activity glucose:sodium symporter activity plasma membrane ion transport sodium ion transport hexose transport membrane integral component of membrane transmembrane transporter activity transmembrane transport extracellular exosome glucose transmembrane transport  uc001crn.1 uc001crn.2 uc001crn.3 
ENST00000236671.7 CTSD ENST00000236671.7 Homo sapiens cathepsin D (CTSD), mRNA. (from RefSeq NM_001909) ENST00000236671.1 ENST00000236671.2 ENST00000236671.3 ENST00000236671.4 ENST00000236671.5 ENST00000236671.6 NM_001909 V9HWI3 uc001luc.1 uc001luc.2 uc001luc.3 This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.350777.1, SRR3476690.959075.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236671.7/ ENSP00000236671.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc001luc.1 uc001luc.2 uc001luc.3 
ENST00000236693.11 COLEC11 ENST00000236693.11 Homo sapiens collectin subfamily member 11 (COLEC11), transcript variant 2, mRNA. (from RefSeq NM_199235) A1IGE4 A1IGE5 A1IGE6 A7VJJ2 A7VJJ3 A7VJJ4 A7VJJ5 B2R9M5 COL11_HUMAN ENST00000236693.1 ENST00000236693.10 ENST00000236693.2 ENST00000236693.3 ENST00000236693.4 ENST00000236693.5 ENST00000236693.6 ENST00000236693.7 ENST00000236693.8 ENST00000236693.9 NM_199235 Q5CZ85 Q7Z6N1 Q9BWP8 UNQ596/PRO1182 uc002qxz.1 uc002qxz.2 uc002qxz.3 uc002qxz.4 uc002qxz.5 This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. Lectin that binds to various sugars including fucose and mannose. Has a higher affinity for fucose compared to mannose. Does not bind to glucose, N-acetylglucosamine and N- acetylgalactosamine. Also binds lipopolysaccharides (LPS). Involved in fundamental development serving as a guidance cue for neural crest cell migration (By similarity). Secreted (Potential). Event=Alternative splicing; Named isoforms=9; Name=1; Synonyms=CL-K1-I; IsoId=Q9BWP8-1; Sequence=Displayed; Name=2; Synonyms=CL-K1-Ia; IsoId=Q9BWP8-2; Sequence=VSP_030468; Name=3; Synonyms=CL-K1-Ib; IsoId=Q9BWP8-3; Sequence=VSP_030470; Name=4; Synonyms=CL-K1-II; IsoId=Q9BWP8-4; Sequence=VSP_030466; Name=5; Synonyms=CL-K1-Ic; IsoId=Q9BWP8-5; Sequence=VSP_030467; Name=6; Synonyms=CL-K1-IIa; IsoId=Q9BWP8-6; Sequence=VSP_030465, VSP_030469; Name=7; Synonyms=CL-K1-IIb; IsoId=Q9BWP8-7; Sequence=VSP_030466, VSP_030470; Name=8; Synonyms=CL-K1-IIc; IsoId=Q9BWP8-8; Sequence=VSP_030463, VSP_030471; Name=9; IsoId=Q9BWP8-9; Sequence=VSP_030464; Ubiquitous. Defects in COLEC11 are the cause of 3MC syndrome type 2 (3MC2) [MIM:265050]. 3MC2 is an a disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly archedDE eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. Belongs to the COLEC10/COLEC11 family. Contains 1 C-type lectin domain. Contains 1 collagen-like domain. Name=Functional Glycomics Gateway - Glycan Binding; Note=Collectin K1; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_225"; complement activation, lectin pathway immune system process DNA binding calcium ion binding protein binding mannose binding extracellular region collagen trimer extracellular space receptor-mediated endocytosis complement activation multicellular organism development antimicrobial humoral response carbohydrate binding developmental process fucose binding innate immune response metal ion binding monosaccharide binding oligosaccharide binding execution phase of apoptosis  uc002qxz.1 uc002qxz.2 uc002qxz.3 uc002qxz.4 uc002qxz.5 
ENST00000236698.9 STAG1 ENST00000236698.9 Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. (from UniProt Q8WVM7) BC064699 ENST00000236698.1 ENST00000236698.2 ENST00000236698.3 ENST00000236698.4 ENST00000236698.5 ENST00000236698.6 ENST00000236698.7 ENST00000236698.8 O00539 Q8WVM7 SA1 STAG1_HUMAN uc003erb.1 uc003erb.2 Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Interacts directly with RAD21 in cohesin complex. Cohesin complexes are composed of a heterodimer between a SMC1 protein (SMC1A or SMC1B) and SMC3, which are attached via their hinge domain, and RAD21 which link them at their heads, and one STAG protein (STAG1, STAG2 or STAG3). In cohesin complexes, STAG1 is mutually exclusive with STAG2 and STAG3. Q29RF7:PDS5A; NbExp=3; IntAct=EBI-1175097, EBI-1175454; Q9NTI5:PDS5B; NbExp=3; IntAct=EBI-1175097, EBI-1175604; Q9UQE7:SMC3; NbExp=7; IntAct=EBI-1175097, EBI-80718; Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK1, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of cohesin is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity). Belongs to the SCC3 family. Contains 1 SCD (stromalin conservative) domain. chromosome, centromeric region chromatin chromatin binding protein binding nucleus nucleoplasm chromosome cytosol cell cycle chromosome segregation sister chromatid cohesion cohesin complex nuclear matrix nuclear body cell division mitotic spindle pole regulation of mitotic spindle assembly  uc003erb.1 uc003erb.2 
ENST00000236709.4 A4GNT ENST00000236709.4 Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA. (from RefSeq NM_016161) A4GCT_HUMAN ENST00000236709.1 ENST00000236709.2 ENST00000236709.3 NM_016161 Q0VDK1 Q0VDK2 Q9UNA3 uc003ers.1 uc003ers.2 uc003ers.3 This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AK225668.1, AF141315.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2146982 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236709.4/ ENSP00000236709.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Necessary for the synthesis of type III mucin. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O- glycans. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Probable). Detected in stomach and pancreas. The conserved DXD motif is involved in enzyme activity (By similarity). Belongs to the glycosyltransferase 32 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=Functional Glycomics Gateway - GTase; Note=Alpha-1,4-N-acetylglucosaminyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_532"; Golgi membrane Golgi apparatus carbohydrate metabolic process protein glycosylation protein O-linked glycosylation acetylglucosaminyltransferase activity glycoprotein biosynthetic process membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups negative regulation of epithelial cell proliferation  uc003ers.1 uc003ers.2 uc003ers.3 
ENST00000236826.8 MMP8 ENST00000236826.8 Homo sapiens matrix metallopeptidase 8 (MMP8), transcript variant 1, mRNA. (from RefSeq NM_002424) CLG1 ENST00000236826.1 ENST00000236826.2 ENST00000236826.3 ENST00000236826.4 ENST00000236826.5 ENST00000236826.6 ENST00000236826.7 MMP8_HUMAN NM_002424 P22894 Q45F99 uc001phe.1 uc001phe.2 uc001phe.3 This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Can degrade fibrillar type I, II, and III collagens. Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I. Binds 3 calcium ions per subunit. Binds 2 zinc ions per subunit. Cannot be activated without removal of the activation peptide. Cytoplasmic granule. Secreted, extracellular space, extracellular matrix (Probable). Note=Stored in intracellular granules. Neutrophils. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp8/"; endopeptidase activity metalloendopeptidase activity serine-type endopeptidase activity extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding positive regulation of gene expression negative regulation of gene expression hydrolase activity extracellular matrix disassembly extracellular matrix organization collagen catabolic process extracellular matrix negative regulation of interleukin-10 production positive regulation of interleukin-6 production specific granule lumen endodermal cell differentiation neutrophil degranulation positive regulation of DNA binding positive regulation of MAPK cascade positive regulation of nitric oxide biosynthetic process positive regulation of JNK cascade metal ion binding positive regulation of NIK/NF-kappaB signaling positive regulation of reactive oxygen species biosynthetic process regulation of microglial cell activation positive regulation of microglial cell activation positive regulation of tumor necrosis factor secretion tertiary granule lumen  uc001phe.1 uc001phe.2 uc001phe.3 
ENST00000236850.5 APOA1 ENST00000236850.5 Homo sapiens apolipoprotein A1 (APOA1), transcript variant 4, mRNA. (from RefSeq NM_001318021) A8K866 APOA1_HUMAN ENST00000236850.1 ENST00000236850.2 ENST00000236850.3 ENST00000236850.4 NM_001318021 P02647 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8 uc001ppv.1 uc001ppv.2 uc001ppv.3 This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]. Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility. Interacts with APOA1BP and CLU. Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin. Interacts with NDRG1. P05067:APP; NbExp=5; IntAct=EBI-701692, EBI-77613; Secreted. Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease. Palmitoylated. Met-110 and Met-136 are oxidized to methionine sulfoxides. Phosphorylation sites are present in the extracellular medium. Mass=28081; Method=Electrospray; Range=25-267; Note=Without methionine sulfoxide; Source=PubMed:12576517; Mass=28098; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at Met-110; Source=PubMed:12576517; Mass=28095; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at Met-136; Source=PubMed:12576517; Mass=28114; Method=Electrospray; Range=25-267; Note=With 2 methionine sulfoxides, oxidation at Met-110 and Met- 136; Source=PubMed:12576517; Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant. Defects in APOA1 are a cause of the low HDL levels observed in high density lipoprotein deficiency type 1 (HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease, hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. In HDLD1 patients, ApoA-I fails to associate with HDL probably because of the faulty conversion of pro-ApoA-I molecules into mature chains, either due to a defect in the converting enzyme activity or a specific structural defect in Tangier ApoA-I. Note=A mutation in APOA1 is the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA); also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1. The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. Cataracts is present in several, but vitreous opacities are not observed. Defects in APOA1 are a cause of amyloidosis type 8 (AMYL8) [MIM:105200]; also known as systemic non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is a hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Belongs to the apolipoprotein A1/A4/E family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOA1"; Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1"; retinoid metabolic process beta-amyloid binding regulation of protein phosphorylation endothelial cell proliferation platelet degranulation negative regulation of cytokine secretion involved in immune response receptor binding lipid transporter activity protein binding phospholipid binding phospholipid transporter activity extracellular region extracellular space nucleus early endosome endoplasmic reticulum lumen cytosol plasma membrane lipid metabolic process phospholipid metabolic process phosphatidylcholine biosynthetic process cholesterol biosynthetic process lipid transport receptor-mediated endocytosis G-protein coupled receptor signaling pathway integrin-mediated signaling pathway response to nutrient high-density lipoprotein particle binding steroid metabolic process cholesterol metabolic process glucocorticoid metabolic process lipid binding cell surface negative regulation of tumor necrosis factor-mediated signaling pathway positive regulation of cholesterol esterification positive regulation of cholesterol efflux positive regulation of triglyceride catabolic process negative regulation of very-low-density lipoprotein particle remodeling peripheral nervous system axon regeneration cholesterol binding phospholipid transport protein oxidation peptidyl-methionine modification regulation of lipid metabolic process enzyme binding lipid storage endocytic vesicle regulation of intestinal cholesterol absorption cholesterol transport adrenal gland development heat shock protein binding animal organ regeneration phosphatidylcholine binding cytoplasmic vesicle regulation of Cdc42 protein signal transduction cholesterol efflux phospholipid efflux negative regulation of heterotypic cell-cell adhesion apolipoprotein receptor binding apolipoprotein A-I receptor binding very-low-density lipoprotein particle low-density lipoprotein particle intermediate-density lipoprotein particle high-density lipoprotein particle discoidal high-density lipoprotein particle spherical high-density lipoprotein particle chylomicron remodeling very-low-density lipoprotein particle remodeling high-density lipoprotein particle remodeling chylomicron assembly high-density lipoprotein particle assembly high-density lipoprotein particle clearance secretory granule lumen positive regulation of Rho protein signal transduction lipoprotein metabolic process lipoprotein biosynthetic process response to drug chylomicron cholesterol homeostasis identical protein binding blood vessel endothelial cell migration response to estrogen post-translational protein modification reverse cholesterol transport cellular protein metabolic process chemorepellent activity positive regulation of fatty acid biosynthetic process phosphatidylcholine metabolic process negative regulation of interleukin-1 beta secretion negative regulation of inflammatory response positive regulation of phagocytosis protein stabilization negative chemotaxis positive regulation of lipoprotein lipase activity vitamin transport positive regulation of hydrolase activity negative regulation of hydrolase activity positive regulation of stress fiber assembly transmembrane transport phospholipid homeostasis lipase inhibitor activity negative regulation of lipase activity phosphatidylcholine-sterol O-acyltransferase activator activity negative regulation of cell adhesion molecule production negative regulation of response to cytokine stimulus extracellular exosome triglyceride homeostasis cholesterol import high-density lipoprotein particle receptor binding endocytic vesicle lumen lipoprotein particle binding blood microparticle positive regulation of substrate adhesion-dependent cell spreading positive regulation of phospholipid efflux extracellular vesicle transforming growth factor beta receptor signaling pathway ERK1 and ERK2 cascade  uc001ppv.1 uc001ppv.2 uc001ppv.3 
ENST00000236877.11 SLC8A2 ENST00000236877.11 Homo sapiens solute carrier family 8 member A2 (SLC8A2), mRNA. (from RefSeq NM_015063) B4DYQ9 ENST00000236877.1 ENST00000236877.10 ENST00000236877.2 ENST00000236877.3 ENST00000236877.4 ENST00000236877.5 ENST00000236877.6 ENST00000236877.7 ENST00000236877.8 ENST00000236877.9 KIAA1087 NAC2_HUMAN NCX2 NM_015063 Q9UPR5 uc002pgx.1 uc002pgx.2 uc002pgx.3 uc002pgx.4 uc002pgx.5 Rapidly transports Ca(2+) during excitation-contraction coupling. Ca(2+) is extruded from the cell during relaxation so as to prevent overloading of intracellular stores (By similarity). By ATP (By similarity). Membrane; Multi-pass membrane protein. Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily. Contains 2 Calx-beta domains. Sequence=BAA83039.1; Type=Erroneous initiation; calcium:sodium antiporter activity calmodulin binding plasma membrane integral component of plasma membrane ion transport sodium ion transport calcium ion transport cellular calcium ion homeostasis cell communication learning memory antiporter activity membrane integral component of membrane basolateral plasma membrane dendrite sodium ion transmembrane transport cell projection dendritic spine perikaryon metal ion binding regulation of short-term neuronal synaptic plasticity transmembrane transport long-term synaptic potentiation calcium ion transmembrane transport regulation of cardiac conduction  uc002pgx.1 uc002pgx.2 uc002pgx.3 uc002pgx.4 uc002pgx.5 
ENST00000236914.7 NR5A2 ENST00000236914.7 Homo sapiens nuclear receptor subfamily 5 group A member 2 (NR5A2), transcript variant 2, mRNA. (from RefSeq NM_003822) B1F CPF ENST00000236914.1 ENST00000236914.2 ENST00000236914.3 ENST00000236914.4 ENST00000236914.5 ENST00000236914.6 FTF NM_003822 NR5A2_HUMAN O00482 O95642 Q147U3 uc001gvc.1 uc001gvc.2 uc001gvc.3 uc001gvc.4 uc001gvc.5 The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]. Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Binds DNA as a monomer (By similarity). Interacts with GRIP1, NCOA2 and NR0B2. O60869:EDF1; NbExp=2; IntAct=EBI-781320, EBI-781301; Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=2; Synonyms=B1F2; IsoId=O00482-1; Sequence=Displayed; Name=1; IsoId=O00482-2; Sequence=VSP_003716; Name=3; IsoId=O00482-3; Sequence=VSP_003717; Note=Does not induce CYP7A promoter activity; Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells. Belongs to the nuclear hormone receptor family. NR5 subfamily. Contains 1 nuclear receptor DNA-binding domain. nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding phospholipid binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter bile acid metabolic process zinc ion binding lipid binding hormone-mediated signaling pathway embryo development ending in birth or egg hatching tissue development intracellular receptor signaling pathway epithelial cell differentiation regulation of cell proliferation homeostatic process cholesterol homeostasis steroid hormone mediated signaling pathway sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of viral genome replication positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding pancreas morphogenesis RNA polymerase II transcription factor complex calcineurin-mediated signaling cellular response to leukemia inhibitory factor  uc001gvc.1 uc001gvc.2 uc001gvc.3 uc001gvc.4 uc001gvc.5 
ENST00000236918.11 TNNT2 ENST00000236918.11 Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. (from UniProt P45379) A2TDB9 A8K3K6 ENST00000236918.1 ENST00000236918.10 ENST00000236918.2 ENST00000236918.3 ENST00000236918.4 ENST00000236918.5 ENST00000236918.6 ENST00000236918.7 ENST00000236918.8 ENST00000236918.9 O60214 P45379 Q99596 Q99597 Q9BUF6 Q9UM96 TNNT2_HUMAN X74819 uc057ohe.1 Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Event=Alternative splicing; Named isoforms=11; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms; Name=1; Synonyms=TNT1; IsoId=P45379-1; Sequence=Displayed; Name=2; IsoId=P45379-2; Sequence=VSP_006644; Name=3; IsoId=P45379-3; Sequence=VSP_006645; Name=4; IsoId=P45379-4; Sequence=VSP_006644, VSP_006645; Name=5; IsoId=P45379-5; Sequence=VSP_006647; Name=6; Synonyms=TNT3; IsoId=P45379-6; Sequence=VSP_006643; Name=7; Synonyms=TNT4; IsoId=P45379-7; Sequence=VSP_006642; Name=8; Synonyms=TNT2; IsoId=P45379-8; Sequence=VSP_006641; Name=9; IsoId=P45379-9; Sequence=VSP_006646; Name=10; IsoId=P45379-10; Sequence=VSP_006648; Name=11; IsoId=P45379-11; Sequence=VSP_006643, VSP_006648; Note=No experimental confirmation available; Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart. Phosphorylation at Thr-213 by PRKCA induces significant reduction in myofilament calcium sensitivity and actomyosin ATPase activity (By similarity). Defects in TNNT2 are the cause of familial hypertrophic cardiomyopathy type 2 (CMH2) [MIM:115195]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Defects in TNNT2 are the cause of cardiomyopathy dilated type 1D (CMD1D) [MIM:601494]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Defects in TNNT2 are the cause of familial restrictive cardiomyopathy type 3 (RCM3) [MIM:612422]. Restrictive cardiomyopathy is a heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. Belongs to the troponin T family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TNNT2"; skeletal muscle contraction actin binding calcium ion binding protein binding tropomyosin binding cytosol troponin complex striated muscle thin filament muscle contraction regulation of muscle contraction regulation of heart contraction sarcomere muscle filament sliding troponin C binding troponin I binding negative regulation of ATPase activity positive regulation of ATPase activity sarcomere organization response to calcium ion ventricular cardiac muscle tissue morphogenesis cardiac muscle contraction cardiac myofibril cardiac Troponin complex ATPase activity calcium-dependent ATPase activity  uc057ohe.1 
ENST00000236925.8 CAMSAP2 ENST00000236925.8 P29692:EEF1D; NbExp=2; IntAct=EBI-1051869, EBI-358607; (from UniProt Q08AD1) B1APG6 CAMP2_HUMAN CAMSAP1L1 ENST00000236925.1 ENST00000236925.2 ENST00000236925.3 ENST00000236925.4 ENST00000236925.5 ENST00000236925.6 ENST00000236925.7 KIAA1078 NM_001389638 Q08AD1 Q08AD2 Q6PGN8 Q96FB3 Q9UG20 Q9UPS4 uc001gvl.1 uc001gvl.2 uc001gvl.3 uc001gvl.4 P29692:EEF1D; NbExp=2; IntAct=EBI-1051869, EBI-358607; Cytoplasm, cytoskeleton (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q08AD1-1; Sequence=Displayed; Name=2; IsoId=Q08AD1-2; Sequence=VSP_030805, VSP_030806; Note=No experimental confirmation available; Name=3; IsoId=Q08AD1-3; Sequence=VSP_030805; Note=No experimental confirmation available; The CKK domain binds microtubules (By similarity). Belongs to the CAMSAP1 family. Contains 1 CH (calponin-homology) domain. Contains 1 CKK domain. Sequence=AAH56910.1; Type=Erroneous initiation; Note=Translation N-terminally extended; microtubule cytoskeleton organization protein binding calmodulin binding cytoplasm Golgi apparatus cytosol cytoskeleton microtubule negative regulation of microtubule depolymerization microtubule binding spectrin binding regulation of microtubule polymerization cytoplasmic microtubule organization neuron projection development regulation of organelle organization regulation of dendrite development microtubule minus-end binding axon development regulation of Golgi organization microtubule end centrosome microtubule minus-end  uc001gvl.1 uc001gvl.2 uc001gvl.3 uc001gvl.4 
ENST00000236937.13 FCGR2B ENST00000236937.13 Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B- cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis. (from UniProt P31994) A6H8N3 CD32 ENST00000236937.1 ENST00000236937.10 ENST00000236937.11 ENST00000236937.12 ENST00000236937.2 ENST00000236937.3 ENST00000236937.4 ENST00000236937.5 ENST00000236937.6 ENST00000236937.7 ENST00000236937.8 ENST00000236937.9 FCG2 FCG2B_HUMAN IGFR2 NM_001386005 O95649 P31994 Q53X85 Q5VXA9 Q8NIA1 uc001gbb.1 uc001gbb.2 uc001gbb.3 Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B- cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis. Isoform IIB1 interacts with measles virus N protein. N protein is released in the blood following lysis of measles infected cells. This interaction presumably block inflammatory immune response. Interacts with INPP5D/SHIP1. Interacts with FGR. Interacts with LYN. P01857:IGHG1; NbExp=31; IntAct=EBI-724784, EBI-356114; P16333:NCK1; NbExp=2; IntAct=EBI-724784, EBI-389883; P19174:PLCG1; NbExp=2; IntAct=EBI-724784, EBI-79387; Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=IIB1; IsoId=P31994-1; Sequence=Displayed; Name=IIB2; IsoId=P31994-2; Sequence=VSP_002643; Name=IIB3; IsoId=P31994-3; Sequence=VSP_002642; Is the most broadly distributed Fc-gamma- receptor. Expressed in monocyte, neutrophils, macrophages, basophils, eosinophils, Langerhans cells, B-cells, platelets cells and placenta (endothelial cells). Not detected in natural killer cells. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases. Phosphorylated by SRC-type Tyr-kinases such as LYN, BLK, FYN and SYK. Note=FCGR2B polymorphisms can influence susceptibility or resistance to malaria [MIM:611162]. Note=A chromosomal aberration involving FCGR2B is found in a follicular lymphoma. Translocation t(1;22)(q22;q11). The translocation leads to the hyperexpression of the receptor. This may play a role in the tumor progression. Defects in FCGR2B are a cause of susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. Has sometimes been attributed to correspond to FcR-IIC. Sequence=CAA35645.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FCGR2BID397.html"; beta-amyloid binding negative regulation of type I hypersensitivity negative regulation of antibody-dependent cellular cytotoxicity follicular dendritic cell activation mature B cell differentiation involved in immune response follicular B cell differentiation immune complex clearance by monocytes and macrophages negative regulation of dendritic cell antigen processing and presentation regulation of B cell antigen processing and presentation negative regulation of immunoglobulin production regulation of adaptive immune response negative regulation of acute inflammatory response to antigenic stimulus positive regulation of humoral immune response negative regulation of humoral immune response mediated by circulating immunoglobulin protein binding plasma membrane integral component of plasma membrane receptor-mediated endocytosis phagocytosis, engulfment defense response inflammatory response immune response signal transduction response to bacterium external side of plasma membrane regulation of receptor activity membrane integral component of membrane viral process immunoglobulin mediated immune response low-affinity IgG receptor activity IgG binding antigen processing and presentation of exogenous peptide antigen via MHC class II cerebellum development negative regulation of B cell proliferation negative regulation of interleukin-10 production Fc-gamma receptor signaling pathway involved in phagocytosis negative regulation of macrophage activation dendritic spine negative regulation of cytotoxic T cell degranulation cell body macromolecular complex binding regulation of innate immune response positive regulation of JNK cascade negative regulation of cytokine secretion negative regulation of phagocytosis positive regulation of phagocytosis regulation of immune response negative regulation of immune response negative regulation of B cell receptor signaling pathway negative regulation of B cell activation cellular response to molecule of bacterial origin regulation of immune complex clearance by monocytes and macrophages positive regulation of neuron death negative regulation of neutrophil activation regulation of dendritic spine maintenance cellular response to beta-amyloid negative regulation of dendritic cell differentiation mast cell activation  uc001gbb.1 uc001gbb.2 uc001gbb.3 
ENST00000236938.12 FCRLA ENST00000236938.12 Homo sapiens Fc receptor like A (FCRLA), transcript variant 2, mRNA. (from RefSeq NM_032738) A0N0M1 ENST00000236938.1 ENST00000236938.10 ENST00000236938.11 ENST00000236938.2 ENST00000236938.3 ENST00000236938.4 ENST00000236938.5 ENST00000236938.6 ENST00000236938.7 ENST00000236938.8 ENST00000236938.9 FCRL FCRL1 FCRLA_HUMAN FCRLM1 FCRX FREB NM_032738 Q5VXA1 Q5VXA2 Q5VXA3 Q5VXA4 Q5VXB0 Q7L513 Q8NEW4 Q8WXH3 Q96PC6 Q96PJ0 Q96PJ1 Q96PJ2 Q96PJ4 Q9BR57 UNQ291/PRO329 uc001gbd.1 uc001gbd.2 uc001gbd.3 uc001gbd.4 uc001gbd.5 This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. May be implicated in B-cell differentiation and lymphomagenesis. Monomer or homodimer; disulfide-linked. Secreted (Probable). Cytoplasm. Event=Alternative splicing; Named isoforms=9; Name=1; Synonyms=FCRLa; IsoId=Q7L513-1; Sequence=Displayed; Name=2; Synonyms=FCRLa1; IsoId=Q7L513-2; Sequence=VSP_017605; Name=3; Synonyms=FCRLb; IsoId=Q7L513-3; Sequence=VSP_017608; Name=4; Synonyms=FCRLc1; IsoId=Q7L513-4; Sequence=VSP_017606; Name=5; Synonyms=FCRLc2; IsoId=Q7L513-5; Sequence=VSP_017604; Name=6; Synonyms=FCRLd; IsoId=Q7L513-6; Sequence=VSP_017607; Name=7; Synonyms=FCRLe; IsoId=Q7L513-7; Sequence=VSP_017603; Name=8; Synonyms=FCRLf; IsoId=Q7L513-8; Sequence=VSP_017609; Name=9; IsoId=Q7L513-9; Sequence=VSP_038297; Expressed specifically in primary and secondary lymphoid tissues like lymph node, spleen and tonsil. Specifically expressed in B-cells with a high level in normal germinal center B-cells, centroblasts and in a subset of diffuse large B-cell lymphomas. Highly expressed in bone marrow B-cells and weakly in earlier B lineage cells. Expressed in pre-germinal and germinal center B-cells in secondary lymphoid tissues. Also expressed in melanoma and melanocytes. Contains 2 Ig-like C2-type (immunoglobulin-like) domains. It is uncertain whether Met-1 or Met-8 is the initiator. cytoplasm cell differentiation  uc001gbd.1 uc001gbd.2 uc001gbd.3 uc001gbd.4 uc001gbd.5 
ENST00000236957.9 EEF1B2 ENST00000236957.9 Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA. (from RefSeq NM_021121) A8K795 EEF1B EF1B EF1B_HUMAN ENST00000236957.1 ENST00000236957.2 ENST00000236957.3 ENST00000236957.4 ENST00000236957.5 ENST00000236957.6 ENST00000236957.7 ENST00000236957.8 NM_021121 P24534 Q6IBH9 uc002vbg.1 uc002vbg.2 This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]. EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP. EF-1 is composed of 4 subunits: alpha, beta, delta, and gamma. P26641:EEF1G; NbExp=3; IntAct=EBI-354334, EBI-351467; Phosphorylation affects the GDP/GTP exchange rate. Belongs to the EF-1-beta/EF-1-delta family. Contains 1 GST C-terminal domain. translation elongation factor activity guanyl-nucleotide exchange factor activity protein binding cytoplasm cytosol eukaryotic translation elongation factor 1 complex translation translational elongation endoplasmic reticulum nucleus  uc002vbg.1 uc002vbg.2 
ENST00000236959.14 ATIC ENST00000236959.14 Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA. (from RefSeq NM_004044) ENST00000236959.1 ENST00000236959.10 ENST00000236959.11 ENST00000236959.12 ENST00000236959.13 ENST00000236959.2 ENST00000236959.3 ENST00000236959.4 ENST00000236959.5 ENST00000236959.6 ENST00000236959.7 ENST00000236959.8 ENST00000236959.9 NM_004044 V9HWH7 uc002vex.1 uc002vex.2 uc002vex.3 uc002vex.4 uc002vex.5 uc002vex.6 This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.22572.1, SRR1803613.156414.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236959.14/ ENSP00000236959.9 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##  uc002vex.1 uc002vex.2 uc002vex.3 uc002vex.4 uc002vex.5 uc002vex.6 
ENST00000236979.2 TNP1 ENST00000236979.2 Homo sapiens transition protein 1 (TNP1), mRNA. (from RefSeq NM_003284) ENST00000236979.1 NM_003284 Q4ZG82 Q4ZG82_HUMAN hCG_16381 uc002vgk.1 uc002vgk.2 uc002vgk.3 uc002vgk.4 Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BU569792.1, BP371302.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000236979.2/ ENSP00000236979.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## nucleosome nuclear nucleosome male germ cell nucleus DNA binding nucleus spermatogenesis positive regulation of protein processing spermatogenesis, exchange of chromosomal proteins  uc002vgk.1 uc002vgk.2 uc002vgk.3 uc002vgk.4 
ENST00000236980.10 FASTKD2 ENST00000236980.10 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYY8-1; Sequence=Displayed; Name=2; IsoId=Q9NYY8-2; Sequence=VSP_017186, VSP_017187; (from UniProt Q9NYY8) AK001516 ENST00000236980.1 ENST00000236980.2 ENST00000236980.3 ENST00000236980.4 ENST00000236980.5 ENST00000236980.6 ENST00000236980.7 ENST00000236980.8 ENST00000236980.9 FAKD2_HUMAN KIAA0971 Q9NVX6 Q9NYY8 Q9Y2H7 uc002vbv.1 uc002vbv.2 uc002vbv.3 uc002vbv.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYY8-1; Sequence=Displayed; Name=2; IsoId=Q9NYY8-2; Sequence=VSP_017186, VSP_017187; Belongs to the FAST kinase family. Contains 1 RAP domain. It is uncertain whether Met-1 or Met-17 is the initiator. Sequence=BAA76815.2; Type=Erroneous initiation; Sequence=BAA91617.1; Type=Erroneous initiation; RNA binding protein kinase activity nucleus mitochondrion protein phosphorylation rRNA binding ribonucleoprotein granule ribosome biogenesis mitochondrial nucleoid intercellular bridge positive regulation of mitochondrial translation mitochondrial large ribosomal subunit assembly  uc002vbv.1 uc002vbv.2 uc002vbv.3 uc002vbv.4 
ENST00000237014.8 TTR ENST00000237014.8 Homo sapiens transthyretin (TTR), mRNA. (from RefSeq NM_000371) ENST00000237014.1 ENST00000237014.2 ENST00000237014.3 ENST00000237014.4 ENST00000237014.5 ENST00000237014.6 ENST00000237014.7 NM_000371 P02766 PALB Q549C7 Q6IB96 Q9UBZ6 Q9UCM9 TTHY_HUMAN uc002kwx.1 uc002kwx.2 uc002kwx.3 uc002kwx.4 uc002kwx.5 uc002kwx.6 This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BG699033.1, BG562535.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000237014.8/ ENSP00000237014.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain. Homotetramer. Dimer of dimers. In the homotetramer, subunits assemble around a central channel that can accommodate two ligand molecules. Interacts with RBP4. Secreted. Cytoplasm. Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver. Each monomer has two 4-stranded beta sheets and the shape of a prolate ellipsoid. Antiparallel beta-sheet interactions link monomers into dimers. A short loop from each monomer forms the main dimer-dimer interaction. These two pairs of loops separate the opposed, convex beta-sheets of the dimers to form an internal channel. Not glycosylated under normal conditions. Following unfolding, caused for example by variant AMYL-TTR 'Gly-38', the cryptic Asn-118 site is exposed and glycosylated by STT3B- containing OST complex, leading to its degradation by the ER- associated degradation (ERAD) pathway. Defects in TTR are the cause of amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210]. A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. Defects in TTR are a cause of hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680]. It is a condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities. Defects in TTR are a cause of carpal tunnel syndrome type 1 (CTS1) [MIM:115430]. It is a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. Tetramer dissociation and partial unfolding leads to the formation of aggregates and amyloid fibrils. Small molecules that occupy at least one of the thyroid hormone binding sites stabilize the tetramer, and thereby stabilize the native state and protect against misfolding and the formation of amyloid fibrils. Two binding sites for thyroxine are located in the channel. Less than 1% of plasma prealbumin molecules are normally involved in thyroxine transport. L-thyroxine binds to the transthyretin by an order of magnitude stronger than does the triiodo-L-thyronine. Thyroxine-binding globulin is the major carrier protein for thyroid hormones in man. About 40% of plasma transthyretin circulates in a tight protein-protein complex with the plasma retinol-binding protein (RBP). The formation of the complex with RBP stabilizes the binding of retinol to RBP and decreases the glomerular filtration and renal catabolism of the relatively small RBP molecule. There is evidence for 2 binding sites for RBP, one possibly being a region that includes Ile-104, located on the outer surface of the transthyretin molecule. Belongs to the transthyretin family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTR"; Name=Wikipedia; Note=Transthyretin entry; URL="http://en.wikipedia.org/wiki/Transthyretin"; retinoid metabolic process hormone activity protein binding extracellular region extracellular space cytoplasm purine nucleobase metabolic process signal transduction extracellular matrix organization macromolecular complex azurophil granule lumen hormone binding retinol metabolic process identical protein binding neutrophil degranulation cellular protein metabolic process protein heterodimerization activity extracellular exosome thyroid hormone binding thyroid hormone transport  uc002kwx.1 uc002kwx.2 uc002kwx.3 uc002kwx.4 uc002kwx.5 uc002kwx.6 
ENST00000237019.11 B4GALT6 ENST00000237019.11 Homo sapiens beta-1,4-galactosyltransferase 6 (B4GALT6), transcript variant 2, mRNA. (from RefSeq NM_001330570) ENST00000237019.1 ENST00000237019.10 ENST00000237019.2 ENST00000237019.3 ENST00000237019.4 ENST00000237019.5 ENST00000237019.6 ENST00000237019.7 ENST00000237019.8 ENST00000237019.9 G3XA83 G3XA83_HUMAN NM_001330570 hCG_25475 uc010dma.1 uc010dma.2 uc010dma.3 uc010dma.4 This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AF069054.1, ERR3218371.197354.1 [ECO:0000332] ##Evidence-Data-END## carbohydrate metabolic process transferase activity transferase activity, transferring glycosyl groups  uc010dma.1 uc010dma.2 uc010dma.3 uc010dma.4 
ENST00000237163.9 DOP1A ENST00000237163.9 DOP1A (from geneSymbol) DOPEY1 ENST00000237163.1 ENST00000237163.2 ENST00000237163.3 ENST00000237163.4 ENST00000237163.5 ENST00000237163.6 ENST00000237163.7 ENST00000237163.8 NM_001385863 Q5TA12 Q5TA12_HUMAN RP1-202D23.2-001 uc011dyy.1 uc011dyy.2 uc011dyy.3 Golgi membrane cytosol Golgi to endosome transport endoplasmic reticulum organization  uc011dyy.1 uc011dyy.2 uc011dyy.3 
ENST00000237172.12 FILIP1 ENST00000237172.12 Homo sapiens filamin A interacting protein 1 (FILIP1), transcript variant 2, mRNA. (from RefSeq NM_015687) B2RMU6 ENST00000237172.1 ENST00000237172.10 ENST00000237172.11 ENST00000237172.2 ENST00000237172.3 ENST00000237172.4 ENST00000237172.5 ENST00000237172.6 ENST00000237172.7 ENST00000237172.8 ENST00000237172.9 FLIP1_HUMAN KIAA1275 NM_015687 Q5VUL6 Q7Z7B0 Q86TC3 Q8N8B9 Q96SK6 Q9NVI8 Q9ULE5 uc003pia.1 uc003pia.2 uc003pia.3 uc003pia.4 uc003pia.5 This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]. By acting through a filamin-A/F-actin axis, it controls the start of neocortical cell migration from the ventricular zone. May be able to induce the degradation of filamin-A (By similarity). Interacts with FLNA (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=L-FILIP; IsoId=Q7Z7B0-1; Sequence=Displayed; Name=2; IsoId=Q7Z7B0-2; Sequence=VSP_018345; Note=No experimental confirmation available; Name=3; Synonyms=S-FILIP; IsoId=Q7Z7B0-3; Sequence=VSP_018344; Moderately expressed in adult heart and brain. Weakly expressed in lung, skeletal muscle, ovary, testis, kidney, and fetal brain, and hardly detectable in liver, pancreas, spleen, and fetal liver. Within brain, moderate expression is found in amygdala and caudate nucleus. Belongs to the FILIP1 family. Sequence=BAA91763.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH71818.1; Type=Erroneous gene model prediction; Sequence=CAH73614.1; Type=Erroneous gene model prediction; nucleolus cytoplasm cytoskeleton plasma membrane actin cytoskeleton  uc003pia.1 uc003pia.2 uc003pia.3 uc003pia.4 uc003pia.5 
ENST00000237177.10 CASP8AP2 ENST00000237177.10 caspase 8 associated protein 2 (from HGNC CASP8AP2) AF154415 ENST00000237177.1 ENST00000237177.2 ENST00000237177.3 ENST00000237177.4 ENST00000237177.5 ENST00000237177.6 ENST00000237177.7 ENST00000237177.8 ENST00000237177.9 uc063qcl.1  uc063qcl.1 
ENST00000237186.10 UBE3D ENST00000237186.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMY4) BC057845 ENST00000237186.1 ENST00000237186.2 ENST00000237186.3 ENST00000237186.4 ENST00000237186.5 ENST00000237186.6 ENST00000237186.7 ENST00000237186.8 ENST00000237186.9 J3KMY4 J3KMY4_HUMAN uc063ptu.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063ptu.1 
ENST00000237201.2 SPACA1 ENST00000237201.2 Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. (from RefSeq NM_030960) ENST00000237201.1 NM_030960 Q9HBV2 SACA1_HUMAN SAMP32 uc003pmn.1 uc003pmn.2 uc003pmn.3 uc003pmn.4 The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AF203447.1, BC029488.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000237201.2/ ENSP00000237201.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in sperm-egg fusion. Membrane; Single-pass type I membrane protein (Potential). Testis specific. At the equatorial segment and the inner acrosomal membrane of capacitated sperm. acrosome assembly inner acrosomal membrane acrosomal membrane spermatogenesis membrane integral component of membrane cytoplasmic vesicle  uc003pmn.1 uc003pmn.2 uc003pmn.3 uc003pmn.4 
ENST00000237247.10 SGIP1 ENST00000237247.10 May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis (By similarity). (from UniProt Q9BQI5) A6NL81 A6NLD1 BC040516 ENST00000237247.1 ENST00000237247.2 ENST00000237247.3 ENST00000237247.4 ENST00000237247.5 ENST00000237247.6 ENST00000237247.7 ENST00000237247.8 ENST00000237247.9 Q4LE32 Q5VYE2 Q5VYE3 Q5VYE4 Q68D76 Q6MZY6 Q8IWC2 Q9BQI5 SGIP1_HUMAN uc057hhx.1 May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis (By similarity). Interacts with proteins essential or regulating the formation of functional clathrin-coated pits. Interacts with CANX (By similarity). Interacts with AP2A1 (By similarity). Interacts with EPS15 (By similarity). Interacts with SH3GL3. Interacts with AMPH. Interacts with ITSN1 (via SH3 domains). Interacts with and REPS1. Membrane, clathrin-coated pit; Peripheral membrane protein; Cytoplasmic side (Probable). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9BQI5-1; Sequence=Displayed; Name=2; IsoId=Q9BQI5-2; Sequence=VSP_020274; Name=3; IsoId=Q9BQI5-3; Sequence=VSP_020274, VSP_020277; Note=No experimental confirmation available; Name=4; IsoId=Q9BQI5-4; Sequence=VSP_020273, VSP_020275, VSP_020276; Name=5; IsoId=Q9BQI5-5; Sequence=VSP_020273, VSP_020275, VSP_020276, VSP_020278; Specifically expressed in brain. Genetic variation in SGIP1 is associated with fat mass and SGIP1 may be a determinant of obesity-related traits. Contains 1 MUHD (Muniscin C-terminal mu homology domain) domain. Sequence=BAE06121.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; response to dietary excess protein binding phospholipid binding cytoplasm cytosol cytoskeleton plasma membrane clathrin-coated pit endocytosis microtubule binding cytoskeletal protein binding tubulin binding membrane SH3 domain binding AP-2 adaptor complex clathrin-coated vesicle positive regulation of receptor-mediated endocytosis clathrin coat assembly membrane organization clathrin-dependent endocytosis energy homeostasis positive regulation of feeding behavior  uc057hhx.1 
ENST00000237264.9 TBPL1 ENST00000237264.9 Homo sapiens TATA-box binding protein like 1 (TBPL1), transcript variant 2, mRNA. (from RefSeq NM_004865) A8K8F5 ENST00000237264.1 ENST00000237264.2 ENST00000237264.3 ENST00000237264.4 ENST00000237264.5 ENST00000237264.6 ENST00000237264.7 ENST00000237264.8 NM_004865 O95753 P62380 Q9BWD5 Q9Z2Z0 TBPL1_HUMAN TLF TLP TLP21 TRF2 TRP uc003qel.1 uc003qel.2 uc003qel.3 uc003qel.4 uc003qel.5 This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]. Does not bind the TATA box. Has DNA-binding ability. Binds TFIIA and TFIIB. Cytoplasm (By similarity). Nucleus (By similarity). Ubiquitously expressed, with highest levels in the testis and ovary. Belongs to the TBP family. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding acrosome assembly DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus transcription factor complex transcription factor TFIIA complex cytoplasm dTTP biosynthetic process DNA-templated transcription, initiation transcription from RNA polymerase II promoter spermatogenesis spermatid nucleus differentiation transcription factor binding positive regulation of transcription from RNA polymerase II promoter  uc003qel.1 uc003qel.2 uc003qel.3 uc003qel.4 uc003qel.5 
ENST00000237275.9 ZC2HC1B ENST00000237275.9 Homo sapiens zinc finger C2HC-type containing 1B (ZC2HC1B), mRNA. (from RefSeq NM_001013623) B2RUZ7 C6orf94 ENST00000237275.1 ENST00000237275.2 ENST00000237275.3 ENST00000237275.4 ENST00000237275.5 ENST00000237275.6 ENST00000237275.7 ENST00000237275.8 FAM164B NM_001013623 Q5TFG8 Q5TFG9 ZC21B_HUMAN uc010khk.1 uc010khk.2 uc010khk.3 uc010khk.4 uc010khk.5 Belongs to the ZC2HC1 family. Contains 1 C2HC-type zinc finger. Sequence=CAI21444.1; Type=Erroneous gene model prediction; Sequence=CAI21445.1; Type=Erroneous gene model prediction; metal ion binding  uc010khk.1 uc010khk.2 uc010khk.3 uc010khk.4 uc010khk.5 
ENST00000237281.5 FBXO30 ENST00000237281.5 Homo sapiens F-box protein 30 (FBXO30), transcript variant 1, mRNA. (from RefSeq NM_032145) ENST00000237281.1 ENST00000237281.2 ENST00000237281.3 ENST00000237281.4 FBX30 FBX30_HUMAN NM_032145 Q8TB52 Q9BXZ7 uc003qla.1 uc003qla.2 uc003qla.3 uc003qla.4 uc003qla.5 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Directly interacts with SKP1 and CUL1 (By similarity). Contains 1 F-box domain. Contains 1 TRAF-type zinc finger. Sequence=AAK30299.1; Type=Erroneous initiation; Sequence=AAK30299.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; protein polyubiquitination cytosol zinc ion binding protein ubiquitination post-translational protein modification metal ion binding ubiquitin protein ligase activity  uc003qla.1 uc003qla.2 uc003qla.3 uc003qla.4 uc003qla.5 
ENST00000237283.9 ADAT2 ENST00000237283.9 Homo sapiens adenosine deaminase tRNA specific 2 (ADAT2), transcript variant 1, mRNA. (from RefSeq NM_182503) A6NL12 ADAT2_HUMAN B3KWY3 DEADC1 ENST00000237283.1 ENST00000237283.2 ENST00000237283.3 ENST00000237283.4 ENST00000237283.5 ENST00000237283.6 ENST00000237283.7 ENST00000237283.8 NM_182503 Q7Z327 Q7Z6V5 Q8IY39 uc003qjj.1 uc003qjj.2 uc003qjj.3 uc003qjj.4 uc003qjj.5 Probably participates in deamination of adenosine-34 to inosine in many tRNAs (By similarity). Zinc (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z6V5-1; Sequence=Displayed; Name=2; IsoId=Q7Z6V5-2; Sequence=VSP_025582; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT2 subfamily. Sequence=AAH37955.2; Type=Erroneous initiation; tRNA wobble adenosine to inosine editing catalytic activity protein binding nucleoplasm tRNA modification tRNA processing tRNA-specific adenosine deaminase activity zinc ion binding hydrolase activity metal ion binding tRNA-specific adenosine-34 deaminase activity tRNA-specific adenosine-34 deaminase complex  uc003qjj.1 uc003qjj.2 uc003qjj.3 uc003qjj.4 uc003qjj.5 
ENST00000237289.8 TNFAIP3 ENST00000237289.8 Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquinates TRAF6 probably acting on 'Lys-63'-linked polyubiquitin. Upon T-cell receptor (TCR)-mediated T-cell activation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate both 'Lys-48'- and 'Lys-63' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. (from UniProt P21580) B2R767 E1P588 ENST00000237289.1 ENST00000237289.2 ENST00000237289.3 ENST00000237289.4 ENST00000237289.5 ENST00000237289.6 ENST00000237289.7 MP067511 OTUD7C P21580 Q2HIX9 Q5VXQ7 Q9NSR6 TNAP3_HUMAN uc003qhr.1 uc003qhr.2 uc003qhr.3 uc003qhr.4 uc003qhr.5 Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquinates TRAF6 probably acting on 'Lys-63'-linked polyubiquitin. Upon T-cell receptor (TCR)-mediated T-cell activation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate both 'Lys-48'- and 'Lys-63' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Homodimer. Interacts with TNIP1, TAX1BP1 and TRAF2. Interacts with RNF11, ITCH and TAX1BP1 only after TNF stimulation; these interaction are transient and they are lost after 1 hour of stimulation with TNF (By similarity). Interacts with YWHAZ and YWHAH. Interacts with IKBKG; the interaction is induced by TNF stimulation and by polyubiquitin. Interacts with RIPK1. Interacts with UBE2N; the interaction requires TAX1BP1. Interacts with TRAF6; the interaction is inhibited by HTLV-1 protein Tax. Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-527670, EBI-81279; P68510:Ywhah (xeno); NbExp=3; IntAct=EBI-527670, EBI-444641; Cytoplasm. Nucleus. Lysosome. A20p50: Cytoplasm. By TNF. The A20-type zinc fingers mediate the ubiquitin ligase activity. The A20-type zinc finger 4 selectively recognizes 'Lys- 63'-linked polyubiquitin. The A20-type zinc finger 4-7 are sufficient to bind polyubiquitin. The OTU domain mediates the deubiquitinase activity. Proteolytically cleaved by MALT1 upon TCR stimulation; disrupts NF-kappa-B inhibitory function and results in increased IL-2 production. It is proposed that only a fraction of TNFAIP3 colocalized with TCR and CBM complex is cleaved, leaving the main TNFAIP3 pool intact. Belongs to the peptidase C64 family. Contains 7 A20-type zinc fingers. Contains 1 OTU domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tnfaip3/"; B-1 B cell homeostasis protease binding response to molecule of bacterial origin regulation of germinal center formation negative regulation of chronic inflammatory response DNA binding catalytic activity ubiquitin-protein transferase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus cytoplasm lysosome cytosol proteolysis apoptotic process inflammatory response cytoskeleton organization metabolic process peptidase activity cysteine-type peptidase activity zinc ion binding regulation of tumor necrosis factor-mediated signaling pathway cell migration protein ubiquitination protein deubiquitination transferase activity hydrolase activity kinase binding positive regulation of Wnt signaling pathway negative regulation of protein ubiquitination negative regulation of NF-kappaB transcription factor activity negative regulation of type I interferon production response to muramyl dipeptide negative regulation of interleukin-1 beta production negative regulation of interleukin-2 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production negative regulation of toll-like receptor 2 signaling pathway negative regulation of toll-like receptor 3 signaling pathway negative regulation of toll-like receptor 4 signaling pathway negative regulation of toll-like receptor 5 signaling pathway protein K29-linked deubiquitination protein K11-linked deubiquitination thiol-dependent ubiquitinyl hydrolase activity identical protein binding negative regulation of I-kappaB kinase/NF-kappaB signaling ubiquitin binding intracellular membrane-bounded organelle protein self-association positive regulation of protein catabolic process negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of bone resorption negative regulation of innate immune response metal ion binding negative regulation of smooth muscle cell proliferation regulation of defense response to virus by host negative regulation of interleukin-1 beta secretion negative regulation of inflammatory response negative regulation of B cell activation negative regulation of cell death regulation of vascular wound healing Lys63-specific deubiquitinase activity extracellular exosome cellular response to hydrogen peroxide nucleotide-binding oligomerization domain containing signaling pathway negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway K63-linked polyubiquitin binding protein K63-linked deubiquitination protein K48-linked ubiquitination protein K48-linked deubiquitination cellular response to lipopolysaccharide protein deubiquitination involved in ubiquitin-dependent protein catabolic process tolerance induction to lipopolysaccharide establishment of protein localization to vacuole negative regulation of osteoclast proliferation negative regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of cellular protein catabolic process protein K33-linked deubiquitination positive regulation of hepatocyte proliferation negative regulation of CD40 signaling pathway negative regulation of endothelial cell apoptotic process  uc003qhr.1 uc003qhr.2 uc003qhr.3 uc003qhr.4 uc003qhr.5 
ENST00000237305.12 SGK1 ENST00000237305.12 Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA. (from RefSeq NM_005627) B7UUP7 B7UUP8 B7UUP9 B7Z5B2 E1P583 ENST00000237305.1 ENST00000237305.10 ENST00000237305.11 ENST00000237305.2 ENST00000237305.3 ENST00000237305.4 ENST00000237305.5 ENST00000237305.6 ENST00000237305.7 ENST00000237305.8 ENST00000237305.9 NM_005627 O00141 Q5TCN2 Q5TCN3 Q5TCN4 Q5VY65 Q9UN56 SGK SGK1_HUMAN uc003qen.1 uc003qen.2 uc003qen.3 uc003qen.4 uc003qen.5 uc003qen.6 This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]. Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphorylates MAPT/TAU and mediates microtubule depolymerization and neurite formation in hippocampal neurons. Phosphorylates SLC2A4/GLUT4 and up-regulates its activity. Phosphorylates APBB1/FE65 and promotes its localization to the nucleus. Phosphorylates MAPK1/ERK2 and activates it by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. Phosphorylates FBXW7 and plays an inhibitory role in the NOTCH1 signaling. Phosphorylates FOXO1 resulting in its relocalization from the nucleus to the cytoplasm. Phosphorylates FOXO3, promoting its exit from the nucleus and interference with FOXO3-dependent transcription. Phosphorylates BRAF and MAP3K3/MEKK3 and inhibits their activity. Phosphorylates SLC9A3/NHE3 in response to dexamethasone, resulting in its activation and increased localization at the cell membrane. Phosphorylates CREB1. Necessary for vascular remodeling during angiogenesis. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Isoform 2 exhibited a greater effect on cell plasma membrane expression of SCNN1A/ENAC and Na(+) transport than isoform 1. ATP + a protein = ADP + a phosphoprotein. Two specific sites, one in the kinase domain (Thr-256) and the other in the C-terminal regulatory region (Ser- 422), need to be phosphorylated for its full activation. Phosphorylation at Ser-397 and Ser-401 are also essential for its activity. Activated by WNK1, WNK2, WNK3 and WNK4. Homodimer; disulfide-linked. Forms a trimeric complex with FBXW7 and NOTCH1. Interacts with MAPK3/ERK1, MAPK1/ERK2, MAP2K1/MEK1, MAP2K2/MEK2, NEDD4, NEDD4L, MAPT/TAU, MAPK7, CREB1, SLC9A3R2/NHERF2 and KCNJ1/ROMK1. Associates with the mammalian target of rapamycin complex 2 (mTORC2) via an interaction with MAPKAP1/SIN1. Cytoplasm. Nucleus. Endoplasmic reticulum membrane. Cell membrane. Mitochondrion. Note=The subcellular localization is controlled by the cell cycle, as well as by exposure to specific hormones and environmental stress stimuli. In proliferating cells, it shuttles between the nucleus and cytoplasm in synchrony with the cell cycle, and in serum/growth factor- stimulated cells it resides in the nucleus. In contrast, after exposure to environmental stress or treatment with glucocorticoids, it is detected in the cytoplasm and with certain stress conditions is associated with the mitochondria. In osmoregulation through the epithelial sodium channel, it can be localized to the cytoplasmic surface of the cell membrane. Nuclear, upon phosphorylation. Isoform 2: Cell membrane. Event=Alternative promoter usage, Alternative splicing; Named isoforms=5; Name=1; IsoId=O00141-1; Sequence=Displayed; Name=2; Synonyms=Sgk1.1, Sgk1_v2; IsoId=O00141-2; Sequence=VSP_037784; Note=Produced by alternative promoter usage; Name=3; Synonyms=Sgk1.2; IsoId=O00141-3; Sequence=VSP_037785; Note=Produced by alternative promoter usage; Name=4; IsoId=O00141-4; Sequence=VSP_037786; Note=Produced by alternative splicing of isoform 1; Name=5; IsoId=O00141-5; Sequence=VSP_037787; Note=Produced by alternative promoter usage; Expressed in most tissues with highest levels in the pancreas, followed by placenta, kidney and lung. Isoform 2 is strongly expressed in brain and pancreas, weaker in heart, placenta, lung, liver and skeletal muscle. Induced by a very large spectrum of stimuli distinct from glucocorticoids and serum. These include aldosterone, cell shrinkage, cell swelling, TGF-beta, ischemic injury of the brain, neuronal excitotoxicity memory consolidation, chronic viral hepatitis, DNA-damaging agents, vitamin D3 psychophysiological stress, iron, glucose, EDN1, CSF2, fibroblast growth factor, platelet-derived growth factor, phorbolesters, follicle- stimulating hormone, sorbitol, heat shock, oxidative stress, UV irradiation, and p53/TP53. Many of these stimuli are highly cell- specific, as is the case, for example for aldosterone, which has been found to stimulate its expression only in cells derived from aldosterone-responsive epithelia. Isoform 2 is not induced by glucocorticoids but by excessive extracellular glucose and by TGFB1, in cultured cells. Isoform 2 subcellular localization at the cell membrane and resistance to proteasomal degradation is mediated by the sequences within the first 120 amino acids. Regulated by phosphorylation. Activated by phosphorylation on Ser-422 by mTORC2, transforming it into a substrate for PDPK1 which phosphorylates it on Thr-256. Phosphorylation on Ser-397 and Ser-401 are also essential for its activity. Phosphorylation on Ser-78 by MAPK7 is required for growth factor-induced cell cycle progression. Ubiquitinated by NEDD4L; which promotes proteasomal degradation. Ubiquitinated by SYVN1 at the endoplasmic reticulum; which promotes rapid proteasomal degradation and maintains a high turnover rate in resting cells. Isoform 2 shows enhanced stability. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain. nucleotide binding regulation of cell growth protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity calcium channel regulator activity protein binding ATP binding nucleus cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane protein phosphorylation sodium ion transport apoptotic process cellular response to DNA damage stimulus long-term memory regulation of blood pressure potassium channel regulator activity membrane kinase activity phosphorylation nuclear speck transferase activity sodium channel regulator activity chloride channel regulator activity peptidyl-serine phosphorylation regulation of cell migration positive regulation of transporter activity ion transmembrane transport intracellular signal transduction regulation of cell proliferation regulation of apoptotic process neuron projection morphogenesis regulation of catalytic activity regulation of sequence-specific DNA binding transcription factor activity regulation of gastric acid secretion renal sodium ion absorption  uc003qen.1 uc003qen.2 uc003qen.3 uc003qen.4 uc003qen.5 uc003qen.6 
ENST00000237316.3 TCF21 ENST00000237316.3 Homo sapiens transcription factor 21 (TCF21), transcript variant 1, mRNA. (from RefSeq NM_198392) BHLHA23 E1P581 ENST00000237316.1 ENST00000237316.2 NM_198392 O43545 O43680 POD1 Q6ICV0 Q9BZ14 TCF21_HUMAN uc003qej.1 uc003qej.2 uc003qej.3 TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types. Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3 and binds the E box (5'-CANNTG-3'). Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ureteric bud development branching involved in ureteric bud morphogenesis morphogenesis of a branching structure kidney development vasculature development DNA binding nucleus sex determination sex differentiation animal organ morphogenesis branchiomeric skeletal muscle development epithelial cell differentiation glomerulus development histone deacetylase binding bHLH transcription factor binding positive regulation of transcription from RNA polymerase II promoter protein dimerization activity lung alveolus development spleen development embryonic digestive tract morphogenesis reproductive structure development gland development androgen receptor binding Sertoli cell differentiation palate development lung morphogenesis lung vasculature development bronchiole development diaphragm development respiratory system development negative regulation of androgen receptor signaling pathway E-box binding metanephric mesenchymal cell differentiation metanephric glomerular capillary formation  uc003qej.1 uc003qej.2 uc003qej.3 
ENST00000237353.15 PMFBP1 ENST00000237353.15 Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. (from RefSeq NM_031293) ENST00000237353.1 ENST00000237353.10 ENST00000237353.11 ENST00000237353.12 ENST00000237353.13 ENST00000237353.14 ENST00000237353.2 ENST00000237353.3 ENST00000237353.4 ENST00000237353.5 ENST00000237353.6 ENST00000237353.7 ENST00000237353.8 ENST00000237353.9 NM_031293 PMFBP_HUMAN Q8NA09 Q8TBY8 Q9BY16 Q9H0H4 uc002fcd.1 uc002fcd.2 uc002fcd.3 uc002fcd.4 uc002fcd.5 May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8TBY8-1; Sequence=Displayed; Name=2; IsoId=Q8TBY8-2; Sequence=VSP_028043, VSP_028045; Note=No experimental confirmation available; Name=3; IsoId=Q8TBY8-3; Sequence=VSP_028043, VSP_028044, VSP_028045; Note=No experimental confirmation available; Sequence=AAK15456.1; Type=Erroneous initiation; molecular_function cytoplasm cilium spermatogenesis motile cilium cell projection sperm connecting piece  uc002fcd.1 uc002fcd.2 uc002fcd.3 uc002fcd.4 uc002fcd.5 
ENST00000237380.12 MED28 ENST00000237380.12 Homo sapiens mediator complex subunit 28 (MED28), mRNA. (from RefSeq NM_025205) EG1 ENST00000237380.1 ENST00000237380.10 ENST00000237380.11 ENST00000237380.2 ENST00000237380.3 ENST00000237380.4 ENST00000237380.5 ENST00000237380.6 ENST00000237380.7 ENST00000237380.8 ENST00000237380.9 FKSG20 MED28_HUMAN NM_025205 Q9BZJ5 Q9H204 uc003gpk.1 uc003gpk.2 uc003gpk.3 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex containing NF2/merlin that participates in cellular signaling to the actin cytoskeleton downstream of tyrosine kinase signaling pathways. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Forms a ternary complex with NF2/merlin and GRB2. Binds to actin. P06241:FYN; NbExp=5; IntAct=EBI-514199, EBI-515315; P62993:GRB2; NbExp=3; IntAct=EBI-514199, EBI-401755; P06239:LCK; NbExp=4; IntAct=EBI-514199, EBI-1348; P35240:NF2; NbExp=4; IntAct=EBI-514199, EBI-1014472; P35240-1:NF2; NbExp=2; IntAct=EBI-514199, EBI-1014500; Nucleus. Cytoplasm. Membrane; Peripheral membrane protein. Note=According to PubMed:15467741, it is cytoplasmic and mainly membrane-associated. Widely expressed. Highly expressed in vascular tissues such as placenta, testis and liver. Up-regulated by endothelial cells when exposed to tumor conditional media. Belongs to the Mediator complex subunit 28 family. Sequence=AAK11563.1; Type=Frameshift; Positions=165; actin binding protein binding nucleus nucleoplasm cytoplasm cytoskeleton membrane mediator complex stem cell population maintenance cortical actin cytoskeleton negative regulation of smooth muscle cell differentiation  uc003gpk.1 uc003gpk.2 uc003gpk.3 
ENST00000237455.5 RNF103 ENST00000237455.5 Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. (from RefSeq NM_005667) A6NFV6 ENST00000237455.1 ENST00000237455.2 ENST00000237455.3 ENST00000237455.4 NM_005667 O00237 Q53SU6 Q8IVB9 RN103_HUMAN ZFP103 uc002srn.1 uc002srn.2 uc002srn.3 uc002srn.4 uc002srn.5 The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]. Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway. Protein modification; protein ubiquitination. Interacts with DERL1 and VCP. Endoplasmic reticulum membrane; Multi-pass membrane protein. Highly expressed in the normal cerebellum but not in the cerebral cortex. Contains 1 RING-type zinc finger. ubiquitin-protein transferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane central nervous system development membrane integral component of membrane protein ubiquitination transferase activity ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum quality control compartment metal ion binding ubiquitin protein ligase activity endoplasmic reticulum mannose trimming  uc002srn.1 uc002srn.2 uc002srn.3 uc002srn.4 uc002srn.5 
ENST00000237500.10 MYL12B ENST00000237500.10 Homo sapiens myosin light chain 12B (MYL12B), transcript variant 2, mRNA. (from RefSeq NM_033546) D3DUH6 ENST00000237500.1 ENST00000237500.2 ENST00000237500.3 ENST00000237500.4 ENST00000237500.5 ENST00000237500.6 ENST00000237500.7 ENST00000237500.8 ENST00000237500.9 ML12B_HUMAN MRLC2 MYLC2B NM_033546 O14950 Q13182 Q7Z5Z4 uc002klt.1 uc002klt.2 uc002klt.3 uc002klt.4 uc002klt.5 uc002klt.6 The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]. Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion (By similarity). Myosin is a hexamer of 2 heavy chains and 4 light chains. Ubiquitously expressed in various hematopoietic cells. Phosphorylation increases the actin-activated myosin ATPase activity and thereby regulates the contractile activity. It is required to generate the driving force in the migration of the cells but not necessary for localization of myosin-2 at the leading edge. Phosphorylation is reduced following epigallocatechin-3-O-gallate treatment. This chain binds calcium (By similarity). Contains 3 EF-hand domains. Sequence=AAP73808.1; Type=Frameshift; Positions=4; calcium ion binding protein binding cytosol muscle contraction myosin complex metal ion binding extracellular exosome cell cortex region  uc002klt.1 uc002klt.2 uc002klt.3 uc002klt.4 uc002klt.5 uc002klt.6 
ENST00000237512.4 ARMC2 ENST00000237512.4 armadillo repeat containing 2 (from HGNC ARMC2) A0A0A0MQT2 AK292499 ENST00000237512.1 ENST00000237512.2 ENST00000237512.3 uc063qmd.1  uc063qmd.1 
ENST00000237527.8 GHRH ENST00000237527.8 Homo sapiens growth hormone releasing hormone (GHRH), transcript variant 2, mRNA. (from RefSeq NM_001184731) ENST00000237527.1 ENST00000237527.2 ENST00000237527.3 ENST00000237527.4 ENST00000237527.5 ENST00000237527.6 ENST00000237527.7 GHRF NM_001184731 P01286 Q4KN10 Q5JYR1 SLIB_HUMAN uc002xgr.1 uc002xgr.2 uc002xgr.3 uc002xgr.4 uc002xgr.5 uc002xgr.6 This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: BC098161.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P01286-1; Sequence=Displayed; Name=2; IsoId=P01286-2; Sequence=VSP_023146; Available under the names Groliberin (Pharmacia) or Somatrel (Ferring). Also available under the name Geref (Serono). Geref is a synthetic acetylated form of residues 1 to 29 of GHRH. Used for the treatment of growth hormone deficiency. Belongs to the glucagon family. Name=Wikipedia; Note=Growth hormone releasing hormone entry; URL="http://en.wikipedia.org/wiki/Growth_hormone_releasing_hormone"; hormone activity neuropeptide hormone activity extracellular region extracellular space G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway cell-cell signaling positive regulation of cell proliferation growth hormone-releasing hormone activity adenohypophysis development growth hormone secretion growth hormone-releasing hormone receptor binding response to food positive regulation of multicellular organism growth neuron projection terminal bouton perikaryon positive regulation of insulin-like growth factor receptor signaling pathway positive regulation of circadian sleep/wake cycle, REM sleep positive regulation of hormone secretion peptide hormone receptor binding positive regulation of growth hormone secretion  uc002xgr.1 uc002xgr.2 uc002xgr.3 uc002xgr.4 uc002xgr.5 uc002xgr.6 
ENST00000237530.11 RPN2 ENST00000237530.11 Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA. (from RefSeq NM_002951) ENST00000237530.1 ENST00000237530.10 ENST00000237530.2 ENST00000237530.3 ENST00000237530.4 ENST00000237530.5 ENST00000237530.6 ENST00000237530.7 ENST00000237530.8 ENST00000237530.9 NM_002951 P04844 Q5JYR6 Q6IBA5 Q96E21 Q9BUQ3 Q9UBE1 RPN2_HUMAN uc002xgp.1 uc002xgp.2 uc002xgp.3 uc002xgp.4 uc002xgp.5 This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. Essential subunit of N-oligosaccharyl transferase enzyme which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. Dolichyl diphosphooligosaccharide + protein L- asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by N-glycosyl linkage to protein L- asparagine. Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04844-1; Sequence=Displayed; Name=2; IsoId=P04844-2; Sequence=VSP_043051, VSP_043052; Note=No experimental confirmation available; Expressed in all tissues tested. Belongs to the SWP1 family. autophagosome membrane protein binding endoplasmic reticulum endoplasmic reticulum membrane rough endoplasmic reticulum cellular protein modification process protein glycosylation protein N-linked glycosylation aging oligosaccharyltransferase complex membrane integral component of membrane protein N-linked glycosylation via asparagine response to drug ribosome binding dolichyl-diphosphooligosaccharide-protein glycotransferase activity  uc002xgp.1 uc002xgp.2 uc002xgp.3 uc002xgp.4 uc002xgp.5 
ENST00000237536.9 SOGA1 ENST00000237536.9 Homo sapiens suppressor of glucose, autophagy associated 1 (SOGA1), transcript variant 1, mRNA. (from RefSeq NM_080627) A6NK10 C20orf117 ENST00000237536.1 ENST00000237536.2 ENST00000237536.3 ENST00000237536.4 ENST00000237536.5 ENST00000237536.6 ENST00000237536.7 ENST00000237536.8 KIAA0889 NM_080627 O94964 Q14DB2 Q5JW51 Q6ZTG8 SOGA SOGA1_HUMAN uc021wcx.1 uc021wcx.2 uc021wcx.3 Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner (By similarity). The C-terminal 25 kDa form occurs as a monomer (By similarity). C-terminal 80 kDa form: Secreted (By similarity). Note=Secreted in primary hepatocyte-conditioned media (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O94964-1; Sequence=Displayed; Name=2; IsoId=O94964-2; Sequence=VSP_035977; Note=No experimental confirmation available. Gene prediction based on EST data; Name=3; IsoId=O94964-3; Sequence=VSP_035976, VSP_035978, VSP_035979; Name=4; IsoId=O94964-4; Sequence=VSP_040825, VSP_040826; Up-regulated in the plasma by adiponectin in healthy fasting female. Proteolytically cleaved in primary hepatocytes into a C- terminal 80 kDa form (By similarity). Proteolytically cleaved into a C-terminal SOGA 25 kDa form that is detected in plasma. Belongs to the SOGA family. Sequence=BAA74912.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; molecular_function extracellular region extracellular space insulin receptor signaling pathway regulation of autophagy negative regulation of gluconeogenesis extracellular exosome  uc021wcx.1 uc021wcx.2 uc021wcx.3 
ENST00000237596.7 PKD2 ENST00000237596.7 Homo sapiens polycystin 2, transient receptor potential cation channel (PKD2), transcript variant 2, non-coding RNA. (from RefSeq NR_156488) ENST00000237596.1 ENST00000237596.2 ENST00000237596.3 ENST00000237596.4 ENST00000237596.5 ENST00000237596.6 NR_156488 O60441 PKD2_HUMAN Q13563 Q15764 Q2M1Q3 Q2M1Q5 uc003hre.1 uc003hre.2 uc003hre.3 uc003hre.4 uc003hre.5 This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]. Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By similarity). Acts as a regulator of cilium length, together with PKD1 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). Functions as a calcium permeable cation channel. Forms homooligomers. Isoform 1 interacts with PKD1 while isoform 3 does not (By similarity). PKD1 requires the presence of PKD2 for stable expression. Interacts with CD2AP. Interacts with HAX1. Interacts with NEK8 (By similarity). Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C (By similarity). Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum. Cell projection, cilium (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q13563-1; Sequence=Displayed; Name=2; Synonyms=delta6; IsoId=Q13563-2; Sequence=VSP_042479, VSP_042480; Name=3; Synonyms=delta7; IsoId=Q13563-3; Sequence=VSP_042481; Name=4; Synonyms=delta9; IsoId=Q13563-4; Sequence=VSP_042482, VSP_042483; Name=5; Synonyms=delta12/13; IsoId=Q13563-5; Sequence=VSP_042484; Note=Minor isoform; Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes. The C-terminal coiled-coil domain binds calcium and undergoes a calcium-induced conformation change. It is implicated in oligomerization and the interaction with PKD1. Defects in PKD2 are the cause of polycystic kidney disease 2 (PKD2) [MIM:613095]. PKD2 is a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. Belongs to the polycystin family. Contains 1 EF-hand domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKD2"; Name=Functional Glycomics Gateway - Glycan Binding; Note=Polycystin 2 - Not a C-type lectin; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_205"; branching involved in ureteric bud morphogenesis kidney development liver development embryonic placenta development heart looping polycystin complex detection of nodal flow receptor binding voltage-gated ion channel activity voltage-gated calcium channel activity voltage-gated sodium channel activity voltage-gated potassium channel activity cation channel activity calcium channel activity potassium channel activity calcium ion binding protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane cell-cell junction cilium ion transport potassium ion transport calcium ion transport cellular calcium ion homeostasis cell cycle arrest positive regulation of cytosolic calcium ion concentration JAK-STAT cascade determination of left/right symmetry heart development cytoskeletal protein binding negative regulation of cell proliferation basal plasma membrane positive regulation of gene expression channel activity outward rectifier potassium channel activity membrane integral component of membrane Wnt signaling pathway basolateral plasma membrane spinal cord development neural tube development voltage-gated cation channel activity lamellipodium cytoplasmic vesicle membrane cytoplasmic vesicle motile cilium positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity cellular response to reactive oxygen species cation channel complex regulation of ion transmembrane transport metanephric part of ureteric bud development sodium ion transmembrane transport aorta development ciliary basal body regulation of cell proliferation identical protein binding protein homodimerization activity actinin binding cytoplasmic sequestering of transcription factor cell projection HLH domain binding ion channel binding cilium organization basal cortex positive regulation of nitric oxide biosynthetic process positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of transcription from RNA polymerase II promoter metal ion binding calcium-induced calcium release activity detection of mechanical stimulus ATPase binding release of sequestered calcium ion into cytosol phosphoprotein binding protein tetramerization protein homotetramerization protein heterotetramerization centrosome duplication muscle alpha-actinin binding alpha-actinin binding ciliary membrane negative regulation of ryanodine-sensitive calcium-release channel activity placenta blood vessel development renal tubule morphogenesis renal artery morphogenesis extracellular exosome calcium ion transmembrane transport positive regulation of cell cycle arrest cellular response to calcium ion cellular response to cAMP integral component of cytoplasmic side of endoplasmic reticulum membrane cellular response to hydrostatic pressure cellular response to osmotic stress cellular response to fluid shear stress integral component of lumenal side of endoplasmic reticulum membrane potassium ion transmembrane transport determination of liver left/right asymmetry metanephric mesenchyme development mesonephric tubule development mesonephric duct development metanephric smooth muscle tissue development metanephric cortex development metanephric ascending thin limb development metanephric cortical collecting duct development metanephric distal tubule development metanephric S-shaped body morphogenesis mitotic spindle regulation of calcium ion import non-motile cilium inorganic cation transmembrane transport cell-cell signaling by wnt negative regulation of G1/S transition of mitotic cell cycle filamentous actin  uc003hre.1 uc003hre.2 uc003hre.3 uc003hre.4 uc003hre.5 
ENST00000237612.8 ABCG2 ENST00000237612.8 Homo sapiens ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), transcript variant 1, mRNA. (from RefSeq NM_004827) A0A1W3 A8K1T5 ABCG2_HUMAN ABCP BCRP BCRP1 ENST00000237612.1 ENST00000237612.2 ENST00000237612.3 ENST00000237612.4 ENST00000237612.5 ENST00000237612.6 ENST00000237612.7 MXR NM_004827 O95374 Q53ZQ1 Q569L4 Q5YLG4 Q86V64 Q8IX16 Q96LD6 Q96TA8 Q9BY73 Q9NUS0 Q9UNQ0 uc003hrg.1 uc003hrg.2 uc003hrg.3 uc003hrg.4 uc003hrg.5 The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. Xenobiotic transporter that may play an important role in the exclusion of xenobiotics from the brain. May be involved in brain-to-blood efflux. Appears to play a major role in the multidrug resistance phenotype of several cancer cell lines. When overexpressed, the transfected cells become resistant to mitoxantrone, daunorubicin and doxorubicin, display diminished intracellular accumulation of daunorubicin, and manifest an ATP- dependent increase in the efflux of rhodamine 123. Monomer or homodimer; disulfide-linked. P11309-1:PIM1; NbExp=9; IntAct=EBI-1569435, EBI-1018629; Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UNQ0-1; Sequence=Displayed; Name=2; IsoId=Q9UNQ0-2; Sequence=VSP_014232, VSP_014233; Note=No experimental confirmation available; Highly expressed in placenta. Low expression in small intestine, liver and colon. Up-regulated in brain tumors. Glycosylation-deficient ABCG2 is normally expressed and functional. Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait. Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Belongs to the ABC transporter superfamily. ABCG family. Eye pigment precursor importer (TC 3.A.1.204) subfamily. Contains 1 ABC transmembrane type-2 domain. Contains 1 ABC transporter domain. Sequence=AF093771; Type=Frameshift; Positions=486, 586; Sequence=AF093772; Type=Frameshift; Positions=386, 502, 586; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/abcg2/"; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9UNQ0"; nucleotide binding protein binding ATP binding nucleus mitochondrion plasma membrane cellular iron ion homeostasis xenobiotic-transporting ATPase activity membrane integral component of membrane ATPase activity mitochondrial membrane ATPase activity, coupled to transmembrane movement of substances identical protein binding protein homodimerization activity urate metabolic process transmembrane transport cellular detoxification  uc003hrg.1 uc003hrg.2 uc003hrg.3 uc003hrg.4 uc003hrg.5 
ENST00000237623.11 SPP1 ENST00000237623.11 Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 2, mRNA. (from RefSeq NM_000582) B2RDA1 BNSP ENST00000237623.1 ENST00000237623.10 ENST00000237623.2 ENST00000237623.3 ENST00000237623.4 ENST00000237623.5 ENST00000237623.6 ENST00000237623.7 ENST00000237623.8 ENST00000237623.9 NM_000582 OPN OSTP_HUMAN P10451 PSEC0156 Q15681 Q15682 Q15683 Q4W597 Q567T5 Q8NBK2 Q96IZ1 uc003hrc.1 uc003hrc.2 uc003hrc.3 uc003hrc.4 The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction. Acts as a cytokine involved in enhancing production of interferon-gamma and interleukin-12 and reducing production of interleukin-10 and is essential in the pathway that leads to type I immunity (By similarity). Ligand for integrin alpha-V/beta-3. Secreted. Event=Alternative splicing; Named isoforms=5; Name=A; Synonyms=OPN-a, OP1B; IsoId=P10451-1; Sequence=Displayed; Name=B; Synonyms=OPN-b, OP1A; IsoId=P10451-2; Sequence=VSP_003778; Name=C; Synonyms=OPN-c; IsoId=P10451-3; Sequence=VSP_003777; Name=D; IsoId=P10451-4; Sequence=VSP_011639; Name=5; IsoId=P10451-5; Sequence=VSP_043695; Note=No experimental confirmation available; Bone. Found in plasma. Extensively phosphorylated by FAM20C in the extracellular medium at multiple sites within the S-x-E/pS motif. N- and O-glycosylated. Belongs to the osteopontin family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SPP1ID42379ch4q22.html"; Name=Wikipedia; Note=Osteopontin entry; URL="http://en.wikipedia.org/wiki/Osteopontin"; ossification osteoblast differentiation cytokine activity integrin binding protein binding extracellular region extracellular space endoplasmic reticulum lumen Golgi apparatus androgen catabolic process inflammatory response cell adhesion signal transduction embryo implantation response to organic substance cell differentiation extracellular matrix organization biomineral tissue development vesicle response to vitamin D cell projection post-translational protein modification cellular protein metabolic process positive regulation of bone resorption positive regulation of transcription, DNA-templated decidualization perinuclear region of cytoplasm response to steroid hormone negative regulation of collateral sprouting of intact axon in response to injury extracellular matrix binding extracellular exosome cellular response to testosterone stimulus positive regulation of estradiol secretion  uc003hrc.1 uc003hrc.2 uc003hrc.3 uc003hrc.4 
ENST00000237642.7 STBD1 ENST00000237642.7 Homo sapiens starch binding domain 1 (STBD1), mRNA. (from RefSeq NM_003943) B3KVZ9 ENST00000237642.1 ENST00000237642.2 ENST00000237642.3 ENST00000237642.4 ENST00000237642.5 ENST00000237642.6 GENX-3414 NM_003943 O95210 STBD1_HUMAN uc003hka.1 uc003hka.2 uc003hka.3 uc003hka.4 uc003hka.5 May have the capability to bind to carbohydrates (Potential). O95166:GABARAP; NbExp=5; IntAct=EBI-2947137, EBI-712001; Q9H0R8:GABARAPL1; NbExp=7; IntAct=EBI-2947137, EBI-746969; P60520:GABARAPL2; NbExp=3; IntAct=EBI-2947137, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-2947137, EBI-373144; Membrane; Single-pass type III membrane protein (Probable). Note=Distributed in the transverse tubules and/or near the junctional sarcoplasmic reticulum. Expressed at high level in skeletal and cardiac muscles. Moderately expressed in liver and placenta. No expression is found in pancreas, kidney or lung. Present in skeletal muscle, heart and placenta (at protein level). Contains 1 CBM20 (carbohydrate binding type-20) domain. protein binding endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane integral component of plasma membrane carbohydrate metabolic process glycogen metabolic process glycogen catabolic process autophagy membrane integral component of membrane enzyme binding carbohydrate binding polysaccharide binding T-tubule pre-autophagosomal structure membrane neutrophil degranulation intracellular transport perinuclear region of cytoplasm glycophagy tertiary granule membrane ficolin-1-rich granule membrane glycogen binding starch binding  uc003hka.1 uc003hka.2 uc003hka.3 uc003hka.4 uc003hka.5 
ENST00000237653.11 ADH6 ENST00000237653.11 Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 2, mRNA. (from RefSeq NM_000672) ADH6_HUMAN B3KS45 ENST00000237653.1 ENST00000237653.10 ENST00000237653.2 ENST00000237653.3 ENST00000237653.4 ENST00000237653.5 ENST00000237653.6 ENST00000237653.7 ENST00000237653.8 ENST00000237653.9 NM_000672 P28332 Q58F53 uc003hup.1 uc003hup.2 uc003hup.3 uc003hup.4 uc003hup.5 This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5' UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. An alcohol + NAD(+) = an aldehyde or ketone + NADH. Binds 2 zinc ions per subunit (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P28332-1; Sequence=Displayed; Name=2; IsoId=P28332-2; Sequence=VSP_037702; Stomach and liver. There are 7 different ADH's isozymes in human: three belongs to class-I: alpha, beta, and gamma, one to class-II: pi, one to class-III: chi, one to class-IV: ADH7 and one to class- V: ADH6. Belongs to the zinc-containing alcohol dehydrogenase family. Class-V subfamily. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/adh6/"; alcohol dehydrogenase (NAD) activity alcohol dehydrogenase activity, zinc-dependent retinol dehydrogenase activity cytoplasm cytosol ethanol oxidation zinc ion binding oxidoreductase activity retinol metabolic process retinoic acid metabolic process response to ethanol metal ion binding oxidation-reduction process extracellular exosome  uc003hup.1 uc003hup.2 uc003hup.3 uc003hup.4 uc003hup.5 
ENST00000237654.9 CCNI ENST00000237654.9 Homo sapiens cyclin I (CCNI), transcript variant 1, mRNA. (from RefSeq NM_006835) B2R6M0 CCNI_HUMAN ENST00000237654.1 ENST00000237654.2 ENST00000237654.3 ENST00000237654.4 ENST00000237654.5 ENST00000237654.6 ENST00000237654.7 ENST00000237654.8 NM_006835 Q14094 uc003hkm.1 uc003hkm.2 uc003hkm.3 uc003hkm.4 uc003hkm.5 uc003hkm.6 The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]. Highest levels in adult heart, brain and skeletal muscle. Lower levels in adult placenta, lung, kidney and pancreas. Also high levels in fetal brain and lower levels in fetal lung, liver and kidney. Also abundant in testis and thyroid. Expression is independent of the cell cycle in lung fibroblasts. Belongs to the cyclin family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ccni/"; regulation of cyclin-dependent protein serine/threonine kinase activity cyclin-dependent protein kinase holoenzyme complex nucleus cytoplasm protein phosphorylation spermatogenesis cyclin-dependent protein serine/threonine kinase regulator activity protein kinase binding mitotic cell cycle phase transition regulation of cell cycle protein kinase activity  uc003hkm.1 uc003hkm.2 uc003hkm.3 uc003hkm.4 uc003hkm.5 uc003hkm.6 
ENST00000237696.10 RARRES1 ENST00000237696.10 Homo sapiens retinoic acid receptor responder 1 (RARRES1), transcript variant 1, mRNA. (from RefSeq NM_206963) ENST00000237696.1 ENST00000237696.2 ENST00000237696.3 ENST00000237696.4 ENST00000237696.5 ENST00000237696.6 ENST00000237696.7 ENST00000237696.8 ENST00000237696.9 NM_206963 P49788 Q8N1D7 TIG1 TIG1_HUMAN uc003fci.1 uc003fci.2 uc003fci.3 uc003fci.4 uc003fci.5 This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. Membrane; Single-pass type II membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=P49788-1; Sequence=Displayed; Note=No experimental confirmation available; Name=1; IsoId=P49788-2; Sequence=VSP_010697, VSP_010698; By tazarotene and by all the retinoic acid receptors tested. Belongs to the protease inhibitor I47 (latexin) family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RARRES1ID42050ch3q25.html"; extracellular space metalloendopeptidase inhibitor activity negative regulation of cell proliferation negative regulation of endopeptidase activity membrane integral component of membrane extracellular exosome  uc003fci.1 uc003fci.2 uc003fci.3 uc003fci.4 uc003fci.5 
ENST00000237724.9 RAB3GAP2 ENST00000237724.9 RAB3 GTPase activating non-catalytic protein subunit 2 (from HGNC RAB3GAP2) AK291234 ENST00000237724.1 ENST00000237724.2 ENST00000237724.3 ENST00000237724.4 ENST00000237724.5 ENST00000237724.6 ENST00000237724.7 ENST00000237724.8 uc057pnw.1  uc057pnw.1 
ENST00000237822.8 LDAH ENST00000237822.8 Homo sapiens lipid droplet associated hydrolase (LDAH), transcript variant 1, mRNA. (from RefSeq NM_021925) C2orf43 CB043_HUMAN D6W530 ENST00000237822.1 ENST00000237822.2 ENST00000237822.3 ENST00000237822.4 ENST00000237822.5 ENST00000237822.6 ENST00000237822.7 NM_021925 Q53T37 Q53T58 Q9H6V9 uc002rec.1 uc002rec.2 uc002rec.3 uc002rec.4 uc002rec.5 uc002rec.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H6V9-1; Sequence=Displayed; Name=2; IsoId=Q9H6V9-2; Sequence=VSP_042202; Belongs to the UPF0554 family. endoplasmic reticulum lipid particle lipid metabolic process lipid catabolic process lipase activity hydrolase activity  uc002rec.1 uc002rec.2 uc002rec.3 uc002rec.4 uc002rec.5 uc002rec.6 
ENST00000237837.2 FGF23 ENST00000237837.2 Homo sapiens fibroblast growth factor 23 (FGF23), mRNA. (from RefSeq NM_020638) ENST00000237837.1 FGF23_HUMAN HYPF NM_020638 Q4V758 Q9GZV9 UNQ3027/PRO9828 uc001qmq.1 uc001qmq.2 This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB047858.1, AF263537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2159607, SAMEA2162895 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000237837.2/ ENSP00000237837.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by KL and heparan sulfate glycosaminoglycans that function as coreceptors (By similarity). Secreted. Note=Secretion is dependent on O- glycosylation. Expressed in osteogenic cells particularly during phases of active bone remodeling. In adult trabecular bone, expressed in osteocytes and flattened bone-lining cells (inactive osteoblasts). Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases. O-glycosylated by GALT3. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23. Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses. Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Belongs to the heparin-binding growth factors family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGF23"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf23/"; MAPK cascade fibroblast growth factor receptor binding type 1 fibroblast growth factor receptor binding protein binding extracellular region extracellular space endoplasmic reticulum lumen Golgi lumen phosphate-containing compound metabolic process growth factor activity fibroblast growth factor receptor signaling pathway regulation of phosphate transport positive regulation of vitamin D 24-hydroxylase activity cell differentiation regulation of bone mineralization negative regulation of bone mineralization cellular phosphate ion homeostasis response to magnesium ion vitamin D metabolic process vitamin D catabolic process post-translational protein modification cellular protein metabolic process cellular response to leptin stimulus negative regulation of osteoblast differentiation positive regulation of transcription, DNA-templated negative regulation of hormone secretion positive regulation of protein kinase B signaling phosphate ion homeostasis positive regulation of ERK1 and ERK2 cascade cellular response to vitamin D cellular response to interleukin-6 cellular response to parathyroid hormone stimulus positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway response to sodium phosphate  uc001qmq.1 uc001qmq.2 
ENST00000237841.5 OTUD4P1 ENST00000237841.5 OTUD4 pseudogene 1 (from HGNC OTUD4P1) ENST00000237841.1 ENST00000237841.2 ENST00000237841.3 ENST00000237841.4 JD112940 uc286idc.1  uc286idc.1 
ENST00000237853.9 ELL2 ENST00000237853.9 Homo sapiens elongation factor for RNA polymerase II 2 (ELL2), mRNA. (from RefSeq NM_012081) ELL2_HUMAN ENST00000237853.1 ENST00000237853.2 ENST00000237853.3 ENST00000237853.4 ENST00000237853.5 ENST00000237853.6 ENST00000237853.7 ENST00000237853.8 NM_012081 O00472 uc003klr.1 uc003klr.2 uc003klr.3 uc003klr.4 uc003klr.5 Elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Interacts with EAF1 and EAF2. Nucleus. Belongs to the ELL/occludin family. protein binding nucleus nucleoplasm transcription elongation from RNA polymerase II promoter transcription elongation factor complex snRNA transcription from RNA polymerase II promoter  uc003klr.1 uc003klr.2 uc003klr.3 uc003klr.4 uc003klr.5 
ENST00000237858.11 GLRX ENST00000237858.11 Homo sapiens glutaredoxin (GLRX), transcript variant 4, mRNA. (from RefSeq NM_001243659) B2R4L2 ENST00000237858.1 ENST00000237858.10 ENST00000237858.2 ENST00000237858.3 ENST00000237858.4 ENST00000237858.5 ENST00000237858.6 ENST00000237858.7 ENST00000237858.8 ENST00000237858.9 GLRX1_HUMAN GRX NM_001243659 P35754 Q3KQS1 Q6ICT1 uc003klo.1 uc003klo.2 uc003klo.3 uc003klo.4 uc003klo.5 uc003klo.6 This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimer's disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]. Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins. Cytoplasm. Belongs to the glutaredoxin family. Contains 1 glutaredoxin domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/glrx/"; nucleus cytoplasm cytosol electron carrier activity protein disulfide oxidoreductase activity glutathione disulfide oxidoreductase activity nucleobase-containing small molecule interconversion electron transport chain cell redox homeostasis positive regulation of membrane potential protein N-terminus binding oxidation-reduction process extracellular exosome protein deglutathionylation glutathione oxidoreductase activity positive regulation of sodium ion transmembrane transporter activity  uc003klo.1 uc003klo.2 uc003klo.3 uc003klo.4 uc003klo.5 uc003klo.6 
ENST00000237889.9 NDUFB3 ENST00000237889.9 Homo sapiens NADH:ubiquinone oxidoreductase subunit B3 (NDUFB3), transcript variant 1, mRNA. (from RefSeq NM_002491) ENST00000237889.1 ENST00000237889.2 ENST00000237889.3 ENST00000237889.4 ENST00000237889.5 ENST00000237889.6 ENST00000237889.7 ENST00000237889.8 NDUB3_HUMAN NM_002491 O43676 Q6IB80 uc002uwx.1 uc002uwx.2 uc002uwx.3 uc002uwx.4 uc002uwx.5 uc002uwx.6 uc002uwx.7 This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane; Single-pass membrane protein; Matrix side. Belongs to the complex I NDUFB3 subunit family. mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity membrane integral component of membrane electron transport chain mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain  uc002uwx.1 uc002uwx.2 uc002uwx.3 uc002uwx.4 uc002uwx.5 uc002uwx.6 uc002uwx.7 
ENST00000237937.7 ZFAND5 ENST00000237937.7 Homo sapiens zinc finger AN1-type containing 5 (ZFAND5), transcript variant e, mRNA. (from RefSeq NM_001278244) A8K484 ENST00000237937.1 ENST00000237937.2 ENST00000237937.3 ENST00000237937.4 ENST00000237937.5 ENST00000237937.6 NM_001278244 O76080 ZA20D2 ZFAN5_HUMAN ZNF216 uc031ted.1 Involved in protein degradation via the ubiquitin- proteasome system. May act by anchoring ubiquitinated proteins to the proteasome. Plays a role in ubiquitin-mediated protein degradation during muscle atrophy. Plays a role in the regulation of NF-kappa-B activation and apoptosis. Inhibits NF-kappa-B activation triggered by overexpression of RIPK1 and TRAF6 but not of RELA. Inhibits also tumor necrosis factor (TNF), IL-1 and TLR4- induced NF-kappa-B activation in a dose-dependent manner. Overexpression sensitizes cells to TNF-induced apoptosis. Is a potent inhibitory factor for osteoclast differentiation. Interacts with ubiquitin and polyubiquitinated proteins. Identified in a heterotrimeric complex with ubiquitin and SQSTM1, where ZFAND5 and SQSTM1 both interact with the same ubiquitin molecule (By similarity). Homooligomer and/or heterooligomer. Interacts (via A20-type domain) with IKBKG and RIPK1 and with TRAF6 (via AN1-type domain). Cytoplasm (By similarity). Highly expressed in skeletal muscle. Expressed in fetal cochlea. Also expressed in infant brain, fetal heart, pancreatic islet, melanocyte, pineal gland, placenta, corneal stroma, and parathyroid tumor. Weakly expressed or undetectable in adult brain, heart, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood leukocytes. Expressed in rhabdomyosarcoma RD cells (at protein level). The A20-type zinc finger directly binds polyubiquitin chains and associates with the 26S proteasome. The zinc-finger A20-type domain is essential for inhibition of NF-kappa-B activation (By similarity). Contains 1 A20-type zinc finger. Contains 1 AN1-type zinc finger. molecular_function DNA binding protein binding cellular_component cytoplasm biological_process zinc ion binding metal ion binding  uc031ted.1 
ENST00000238018.8 GDA ENST00000238018.8 Homo sapiens guanine deaminase (GDA), transcript variant 7, mRNA. (from RefSeq NM_001351573) B4DTY5 ENST00000238018.1 ENST00000238018.2 ENST00000238018.3 ENST00000238018.4 ENST00000238018.5 ENST00000238018.6 ENST00000238018.7 GUAD_HUMAN KIAA1258 NM_001351573 Q5SZC7 Q9H335 Q9ULG2 Q9Y2T3 uc004air.1 uc004air.2 uc004air.3 uc004air.4 This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.157623.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## Catalyzes the hydrolytic deamination of guanine, producing xanthine and ammonia (By similarity). Guanine + H(2)O = xanthine + NH(3). Binds 1 zinc ion per subunit. Purine metabolism; guanine degradation; xanthine from guanine: step 1/1. Homodimer. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y2T3-1; Sequence=Displayed; Name=2; Synonyms=c; IsoId=Q9Y2T3-2; Sequence=VSP_042075; Name=3; Synonyms=a; IsoId=Q9Y2T3-3; Sequence=VSP_042076; Belongs to the ATZ/TRZ family. Sequence=BAA86572.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; intracellular cytosol nucleobase-containing compound metabolic process guanine catabolic process purine nucleotide catabolic process nervous system development zinc ion binding guanine deaminase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds guanine metabolic process metal ion binding  uc004air.1 uc004air.2 uc004air.3 uc004air.4 
ENST00000238044.8 ECRG4 ENST00000238044.8 Homo sapiens ECRG4 augurin precursor (ECRG4), mRNA. (from RefSeq NM_032411) AUGN_HUMAN C2orf40 D3DVK2 ENST00000238044.1 ENST00000238044.2 ENST00000238044.3 ENST00000238044.4 ENST00000238044.5 ENST00000238044.6 ENST00000238044.7 NM_032411 Q9H1Z8 UNQ761/PRO1508 uc010fjf.1 uc010fjf.2 uc010fjf.3 uc010fjf.4 uc010fjf.5 Probable hormone that may induce senescence of oligodendrocyte and neural precursor cells, characterized by G1 arrest, RB1 dephosphorylation and accelerated CCND1 and CCND3 proteasomal degradation (By similarity). Secreted. Cytoplasmic vesicle, secretory vesicle. Belongs to the augurin family. neuropeptide hormone activity extracellular region extracellular space cytoplasm plasma membrane neuropeptide signaling pathway central nervous system development negative regulation of cell proliferation response to wounding membrane apical plasma membrane vasopressin secretion dense core granule anaphase-promoting complex-dependent catabolic process regulation of cell proliferation positive regulation of corticotropin secretion positive regulation of corticotropin-releasing hormone secretion G1 to G0 transition cellular senescence positive regulation of corticosterone secretion  uc010fjf.1 uc010fjf.2 uc010fjf.3 uc010fjf.4 uc010fjf.5 
ENST00000238081.8 YWHAQ ENST00000238081.8 Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta (YWHAQ), mRNA. (from RefSeq NM_006826) 1433T_HUMAN D6W4Z5 ENST00000238081.1 ENST00000238081.2 ENST00000238081.3 ENST00000238081.4 ENST00000238081.5 ENST00000238081.6 ENST00000238081.7 NM_006826 P27348 Q567U5 Q5TZU8 Q9UP48 uc002qzx.1 uc002qzx.2 uc002qzx.3 uc002qzx.4 uc002qzx.5 uc002qzx.6 This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.172956.1, SRR1803611.223311.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238081.8/ ENSP00000238081.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1. Homodimer. Interacts with CDK16 (By similarity). Interacts with SSH1. Interacts with CDKN1B ('Thr-198' phosphorylated form); the interaction translocates CDKN1B to the cytoplasm. Interacts with GAB2. Interacts with the 'Ser-241' phosphorylated form of PDPK1. Q9P0K1-3:ADAM22; NbExp=2; IntAct=EBI-359854, EBI-1567267; P49407:ARRB1; NbExp=3; IntAct=EBI-359854, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-359854, EBI-714559; O94921:CDK14; NbExp=3; IntAct=EBI-359854, EBI-1043945; P00533:EGFR; NbExp=4; IntAct=EBI-359854, EBI-297353; P23945:FSHR; NbExp=3; IntAct=EBI-359854, EBI-848239; Q14678:KANK1; NbExp=2; IntAct=EBI-359854, EBI-2556221; Q14678-2:KANK1; NbExp=3; IntAct=EBI-359854, EBI-6173812; Cytoplasm. Note=In neurons, axonally transported to the nerve terminals. Abundantly expressed in brain, heart and pancreas, and at lower levels in kidney and placenta. Up-regulated in the lumbar spinal cord from patients with sporadic amyotrophic lateral sclerosis (ALS) compared with controls, with highest levels of expression in individuals with predominant lower motor neuron involvement. Ser-232 is probably phosphorylated by CK1. Belongs to the 14-3-3 family. protein binding cytoplasm mitochondrion cytosol focal adhesion protein targeting small GTPase mediated signal transduction protein C-terminus binding membrane protein domain specific binding substantia nigra development macromolecular complex negative regulation of ion transmembrane transport identical protein binding ion channel binding synapse negative regulation of transcription, DNA-templated protein N-terminus binding membrane organization extracellular exosome 14-3-3 protein binding positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  uc002qzx.1 uc002qzx.2 uc002qzx.3 uc002qzx.4 uc002qzx.5 uc002qzx.6 
ENST00000238091.8 ITGB1BP1 ENST00000238091.8 Homo sapiens integrin subunit beta 1 binding protein 1 (ITGB1BP1), transcript variant 10, non-coding RNA. (from RefSeq NR_134953) D6W4Y9 ENST00000238091.1 ENST00000238091.2 ENST00000238091.3 ENST00000238091.4 ENST00000238091.5 ENST00000238091.6 ENST00000238091.7 ICAP1 ITBP1_HUMAN NR_134953 O14713 O14714 Q53RS0 uc002qzk.1 uc002qzk.2 uc002qzk.3 uc002qzk.4 The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]. May play a role in the recruitment of beta-1 integrins to the focal contacts during integrin-dependent cell adhesion. Isoform 2 does not bind the integrin cytoplasmic domain-associated protein-1. Interacts specifically with the beta-1 integrin cytoplasmic domain-associated protein-1. P22392:NME2; NbExp=7; IntAct=EBI-2127367, EBI-713693; Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=ICAP1-alpha; IsoId=O14713-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=2; Synonyms=ICAP1-beta; IsoId=O14713-2; Sequence=VSP_003898; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Expressed in intestine, colon, testis, ovary, thymus, spleen and prostate. Isoform 1 appears to be phosphorylated. The degree of phosphorylation is regulated by integrin-dependent cell-matrix interaction. Contains 1 PID domain. angiogenesis ruffle blood vessel endothelial cell proliferation involved in sprouting angiogenesis GDP-dissociation inhibitor activity integrin binding protein binding nucleus nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton plasma membrane negative regulation of protein kinase activity negative regulation of cell adhesion involved in substrate-bound cell migration cell adhesion cell-matrix adhesion Notch signaling pathway integrin-mediated signaling pathway positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of endothelial cell migration negative regulation of fibroblast migration membrane cell migration nuclear body kinase binding protein kinase binding lamellipodium cell differentiation biomineral tissue development negative regulation of protein binding activation of protein kinase B activity integrin activation regulation of cell adhesion mediated by integrin tube formation intracellular signal transduction cellular response to vascular endothelial growth factor stimulus cell projection regulation of GTPase activity receptor clustering cellular response to fibroblast growth factor stimulus positive regulation of Notch signaling pathway positive regulation of transcription from RNA polymerase II promoter perinuclear region of cytoplasm myoblast migration positive regulation of stress fiber assembly positive regulation of cell division positive regulation of focal adhesion assembly negative regulation of focal adhesion assembly positive regulation of protein kinase B signaling negative regulation of ERK1 and ERK2 cascade cell periphery protein localization to plasma membrane negative regulation of cell migration involved in sprouting angiogenesis positive regulation of protein targeting to membrane negative regulation of protein targeting to membrane regulation of blood vessel diameter negative regulation of substrate adhesion-dependent cell spreading regulation of integrin-mediated signaling pathway focal adhesion  uc002qzk.1 uc002qzk.2 uc002qzk.3 uc002qzk.4 
ENST00000238112.8 CPSF3 ENST00000238112.8 Homo sapiens cleavage and polyadenylation specific factor 3 (CPSF3), transcript variant 1, mRNA. (from RefSeq NM_016207) CPSF3_HUMAN CPSF73 ENST00000238112.1 ENST00000238112.2 ENST00000238112.3 ENST00000238112.4 ENST00000238112.5 ENST00000238112.6 ENST00000238112.7 NM_016207 O14769 Q53RS2 Q96F36 Q9UKF6 uc002qzo.1 uc002qzo.2 uc002qzo.3 uc002qzo.4 This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.92137.1, SRR1803615.243113.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238112.8/ ENSP00000238112.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Has endonuclease activity, and functions as mRNA 3'-end-processing endonuclease. Also involved in the histone 3'-end pre-mRNA processing. U7 snRNP- dependent protein that induces both the 3'-endoribonucleolytic cleavage of histone pre-mRNAs and acts as a 5' to 3' exonuclease for degrading the subsequent downstream cleavage product (DCP) of mature histone mRNAs. Cleavage occurs after the 5'-ACCCA-3' sequence in the histone pre-mRNA leaving a 3'hydroxyl group on the upstream fragment containing the stem loop (SL) and 5' phosphate on the downstream cleavage product (DCP) starting with CU nucleotides. The U7-dependent 5' to 3' exonuclease activity is processive and degrades the DCP RNA substrate even after complete removal of the U7-binding site. Binds to the downstream cleavage product (DCP) of histone pre-mRNAs and the cleaved DCP RNA substrate in a U7 snRNP dependent manner. Binds 2 zinc ions per subunit. Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Interacts with CPSF2, CSTF2 and SYMPK. Interacts with TUT1; the interaction is direct and mediates the recruitment of the CPSF complex on the 3'UTR of pre-mRNAs. Interacts with WDR33. Nucleus. Sumoylated on Lys-462, Lys-465 and Lys-545, preferentially by SUMO3. Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF3 subfamily. mRNA splicing, via spliceosome RNA binding nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus nucleoplasm mRNA cleavage and polyadenylation specificity factor complex termination of RNA polymerase II transcription mRNA polyadenylation mRNA cleavage mRNA processing mRNA 3'-end processing by stem-loop binding and cleavage mRNA export from nucleus 5'-3' exonuclease activity hydrolase activity mRNA 3'-end processing metal ion binding RNA phosphodiester bond hydrolysis, endonucleolytic  uc002qzo.1 uc002qzo.2 uc002qzo.3 uc002qzo.4 
ENST00000238138.2 PIGZ ENST00000238138.2 phosphatidylinositol glycan anchor biosynthesis class Z (from HGNC PIGZ) AK022830 ENST00000238138.1 uc062sde.1  uc062sde.1 
ENST00000238146.9 DDX55 ENST00000238146.9 Homo sapiens DEAD-box helicase 55 (DDX55), transcript variant 3, non-coding RNA. (from RefSeq NR_135105) DDX55_HUMAN ENST00000238146.1 ENST00000238146.2 ENST00000238146.3 ENST00000238146.4 ENST00000238146.5 ENST00000238146.6 ENST00000238146.7 ENST00000238146.8 KIAA1595 NR_135105 Q658L6 Q8NHQ9 Q9HCH7 uc001ufi.1 uc001ufi.2 uc001ufi.3 uc001ufi.4 uc001ufi.5 This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]. Probable ATP-binding RNA helicase. ATP + H(2)O = ADP + phosphate. The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis. Belongs to the DEAD box helicase family. DDX55/SPB4 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleolus cytosol membrane hydrolase activity  uc001ufi.1 uc001ufi.2 uc001ufi.3 uc001ufi.4 uc001ufi.5 
ENST00000238156.8 CCDC92 ENST00000238156.8 Homo sapiens coiled-coil domain containing 92 (CCDC92), transcript variant 1, mRNA. (from RefSeq NM_025140) CCD92_HUMAN ENST00000238156.1 ENST00000238156.2 ENST00000238156.3 ENST00000238156.4 ENST00000238156.5 ENST00000238156.6 ENST00000238156.7 NM_025140 Q53HC0 Q9H697 uc001ufw.1 uc001ufw.2 uc001ufw.3 Interacts with CEP164. Cytoplasm, cytoskeleton, centrosome, centriole. It is uncertain whether Met-1 or Met-18 is the initiator. Sequence=BAD96381.1; Type=Erroneous initiation; protein binding nucleoplasm cytoplasm centrosome centriole cytoskeleton intracellular membrane-bounded organelle  uc001ufw.1 uc001ufw.2 uc001ufw.3 
ENST00000238181.11 LGALS8 ENST00000238181.11 Contains 1 galectin domain. (from UniProt H7BXD8) BC016486 ENST00000238181.1 ENST00000238181.10 ENST00000238181.2 ENST00000238181.3 ENST00000238181.4 ENST00000238181.5 ENST00000238181.6 ENST00000238181.7 ENST00000238181.8 ENST00000238181.9 H7BXD8 H7BXD8_HUMAN uc057qpn.1 Contains 1 galectin domain. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. carbohydrate binding  uc057qpn.1 
ENST00000238256.8 FKBP15 ENST00000238256.8 Homo sapiens FKBP prolyl isomerase 15 (FKBP15), mRNA. (from RefSeq NM_015258) ENST00000238256.1 ENST00000238256.2 ENST00000238256.3 ENST00000238256.4 ENST00000238256.5 ENST00000238256.6 ENST00000238256.7 FKB15_HUMAN KIAA0674 NM_015258 Q05DK8 Q5T1M2 Q5T1M5 Q6DD85 Q9Y4D0 uc004bgs.1 uc004bgs.2 uc004bgs.3 uc004bgs.4 May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule- based movement. Interacts with WIP and actin. Cytoplasm (By similarity). Cell projection, axon (By similarity). Early endosome. Note=Present in axons and neuronal growth cones (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5T1M5-1; Sequence=Displayed; Name=2; IsoId=Q5T1M5-2; Sequence=VSP_027758; Note=No experimental confirmation available; Name=3; IsoId=Q5T1M5-3; Sequence=VSP_027756, VSP_027757; The PPIase FKBP-type domain seems to be inactive both for FK506-binding and enzymatic activity (By similarity). The central coiled-coil region is responsible for association with early endosomes. Belongs to the FKBP-type PPIase family. Contains 1 PPIase FKBP-type domain. Sequence=AAH09609.1; Type=Erroneous initiation; Sequence=BAA31649.1; Type=Erroneous initiation; Sequence=CAI10963.1; Type=Erroneous initiation; Sequence=CAI10964.1; Type=Erroneous initiation; protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity actin binding protein binding cytoplasm endosome early endosome endocytosis negative regulation of phosphatase activity membrane axon growth cone cell projection actin filament  uc004bgs.1 uc004bgs.2 uc004bgs.3 uc004bgs.4 
ENST00000238379.9 HDHD3 ENST00000238379.9 Homo sapiens haloacid dehalogenase like hydrolase domain containing 3 (HDHD3), transcript variant 1, mRNA. (from RefSeq NM_031219) B2RD47 C9orf158 ENST00000238379.1 ENST00000238379.2 ENST00000238379.3 ENST00000238379.4 ENST00000238379.5 ENST00000238379.6 ENST00000238379.7 ENST00000238379.8 HDHD3_HUMAN NM_031219 Q9BSH5 uc004bhi.1 uc004bhi.2 Q15645:TRIP13; NbExp=3; IntAct=EBI-745201, EBI-358993; Belongs to the HAD-like hydrolase superfamily. protein binding hydrolase activity  uc004bhi.1 uc004bhi.2 
ENST00000238477.5 ALG2 ENST00000238477.5 Homo sapiens ALG2 alpha-1,3/1,6-mannosyltransferase (ALG2), transcript variant 2, non-coding RNA. (from RefSeq NR_024532) A0A0A0MTE0 ENST00000238477.1 ENST00000238477.2 ENST00000238477.3 ENST00000238477.4 NR_024532 uc064utt.1 This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008].  uc064utt.1 
ENST00000238483.5 APC2 ENST00000238483.5 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt B5MDS5) AB012162 B5MDS5 B5MDS5_HUMAN ENST00000238483.1 ENST00000238483.2 ENST00000238483.3 ENST00000238483.4 uc060rbt.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. beta-catenin binding negative regulation of Wnt signaling pathway negative regulation of canonical Wnt signaling pathway  uc060rbt.1 
ENST00000238497.10 VPS4B ENST00000238497.10 Homo sapiens vacuolar protein sorting 4 homolog B (VPS4B), mRNA. (from RefSeq NM_004869) ENST00000238497.1 ENST00000238497.2 ENST00000238497.3 ENST00000238497.4 ENST00000238497.5 ENST00000238497.6 ENST00000238497.7 ENST00000238497.8 ENST00000238497.9 MIG1 NM_004869 O75351 Q69HW4 Q9GZS7 SKD1 VPS42 VPS4B_HUMAN uc002lix.1 uc002lix.2 uc002lix.3 uc002lix.4 uc002lix.5 The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF195514.1, SRR1660803.10147.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238497.10/ ENSP00000238497.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Proposed to be monomeric or homodimeric in nucleotide- free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner. In vitro, associates on the inside of a helical tubular structure formed by a CHMP2A-CHMP3 polymer. Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP4B and CHMP6. Interacts with VPS4A; the interaction suggests a heteromeric assembly with VPS4A. Interacts with VTA1. Prevacuolar compartment membrane; Peripheral membrane protein. Late endosome membrane; Peripheral membrane protein (Probable). Note=Membrane-associated in the prevacuolar endosomal compartment. Localized in HIV-1 particles purified from acutely infected cells. Ubiquitously expressed. The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the AAA ATPase family. Contains 1 MIT domain. nucleotide binding spindle pole protein binding ATP binding nucleus cytoplasm endosome centrosome cytosol potassium ion transport nucleus organization endosome organization vacuole organization cell cycle mitotic metaphase plate congression protein C-terminus binding endosome membrane regulation of centrosome duplication positive regulation of G2/M transition of mitotic cell cycle protein transport membrane endosomal transport macroautophagy hydrolase activity ATPase activity viral life cycle viral release from host cell cholesterol transport late endosome membrane endosome to lysosome transport via multivesicular body sorting pathway response to lipid multivesicular body assembly viral budding via host ESCRT complex ATPase activity, coupled identical protein binding protein homodimerization activity ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway positive regulation of viral process regulation of viral process protein depolymerization cell division negative regulation of cell death late endosomal microautophagy extracellular exosome Flemming body ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway regulation of mitotic spindle assembly positive regulation of viral release from host cell negative regulation of exosomal secretion positive regulation of exosomal secretion positive regulation of centriole elongation positive regulation of viral life cycle ESCRT III complex disassembly  uc002lix.1 uc002lix.2 uc002lix.3 uc002lix.4 uc002lix.5 
ENST00000238508.8 SERPINB10 ENST00000238508.8 Homo sapiens serpin family B member 10 (SERPINB10), mRNA. (from RefSeq NM_005024) ENST00000238508.1 ENST00000238508.2 ENST00000238508.3 ENST00000238508.4 ENST00000238508.5 ENST00000238508.6 ENST00000238508.7 NM_005024 P48595 PI10 Q4VAX4 Q4VAX7 SPB10_HUMAN uc010xev.1 uc010xev.2 uc010xev.3 uc010xev.4 This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.417906.1, SRR1163658.514721.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238508.8/ ENSP00000238508.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Protease inhibitor that may play a role in the regulation of protease activities during hematopoiesis and apoptosis induced by TNF. May regulate protease activities in the cytoplasm and in the nucleus. Nucleus. Cytoplasm. Expressed specifically in the bone marrow. Belongs to the serpin family. Ov-serpin subfamily. serine-type endopeptidase inhibitor activity extracellular space nucleus cytoplasm plasma membrane negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity secretory granule membrane neutrophil degranulation ficolin-1-rich granule membrane  uc010xev.1 uc010xev.2 uc010xev.3 uc010xev.4 
ENST00000238558.5 GSC ENST00000238558.5 Homo sapiens goosecoid homeobox (GSC), mRNA. (from RefSeq NM_173849) ENST00000238558.1 ENST00000238558.2 ENST00000238558.3 ENST00000238558.4 GSC_HUMAN NM_173849 P56915 Q86YR1 uc001ydu.1 uc001ydu.2 uc001ydu.3 uc001ydu.4 uc001ydu.5 This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY177407.1, BC063580.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Nucleus. Belongs to the paired homeobox family. Bicoid subfamily. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor binding RNA polymerase II repressing transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus transcription factor complex regulation of transcription, DNA-templated multicellular organism development gastrulation anatomical structure morphogenesis neural crest cell fate specification nuclear body dorsal/ventral neural tube patterning signal transduction involved in regulation of gene expression negative regulation of Wnt signaling pathway forebrain development middle ear morphogenesis sequence-specific DNA binding ear development muscle organ morphogenesis embryonic skeletal system morphogenesis  uc001ydu.1 uc001ydu.2 uc001ydu.3 uc001ydu.4 uc001ydu.5 
ENST00000238561.10 ADCK1 ENST00000238561.10 Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 8, non-coding RNA. (from RefSeq NR_158989) ADCK1_HUMAN ENST00000238561.1 ENST00000238561.2 ENST00000238561.3 ENST00000238561.4 ENST00000238561.5 ENST00000238561.6 ENST00000238561.7 ENST00000238561.8 ENST00000238561.9 NR_158989 Q6PD65 Q86TW2 uc001xui.1 uc001xui.2 uc001xui.3 uc001xui.4 The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). Secreted (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86TW2-1; Sequence=Displayed; Name=2; IsoId=Q86TW2-2; Sequence=VSP_020885; Note=No experimental confirmation available; Belongs to the protein kinase superfamily. Contains 1 protein kinase domain. Sequence=CAD62620.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAD62620.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; nucleotide binding protein serine/threonine kinase activity ATP binding extracellular region protein phosphorylation kinase activity phosphorylation transferase activity  uc001xui.1 uc001xui.2 uc001xui.3 uc001xui.4 
ENST00000238607.10 PGF ENST00000238607.10 Homo sapiens placental growth factor (PGF), transcript variant 3, mRNA. (from RefSeq NM_001293643) ENST00000238607.1 ENST00000238607.2 ENST00000238607.3 ENST00000238607.4 ENST00000238607.5 ENST00000238607.6 ENST00000238607.7 ENST00000238607.8 ENST00000238607.9 G3XA84 G3XA84_HUMAN NM_001293643 uc059dlk.1 This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]. Belongs to the PDGF/VEGF growth factor family. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. signal transduction growth factor activity membrane  uc059dlk.1 
ENST00000238609.4 IFI27L2 ENST00000238609.4 Homo sapiens interferon alpha inducible protein 27 like 2 (IFI27L2), mRNA. (from RefSeq NM_032036) ENST00000238609.1 ENST00000238609.2 ENST00000238609.3 FAM14A I27L2_HUMAN NM_032036 Q8TBD7 Q9H2X8 Q9NYL0 TLH29 uc001ycq.1 uc001ycq.2 uc001ycq.3 uc001ycq.4 uc001ycq.5 Membrane; Single-pass type I membrane protein (Potential). Belongs to the IFI6/IFI27 family. Sequence=AAF65760.1; Type=Frameshift; Positions=99; Sequence=AAH22800.2; Type=Erroneous initiation; mitochondrion apoptotic process membrane integral component of membrane mitochondrial membrane  uc001ycq.1 uc001ycq.2 uc001ycq.3 uc001ycq.4 uc001ycq.5 
ENST00000238616.10 NEK9 ENST00000238616.10 Homo sapiens NIMA related kinase 9 (NEK9), transcript variant 2, mRNA. (from RefSeq NM_033116) ENST00000238616.1 ENST00000238616.2 ENST00000238616.3 ENST00000238616.4 ENST00000238616.5 ENST00000238616.6 ENST00000238616.7 ENST00000238616.8 ENST00000238616.9 KIAA1995 NEK8 NEK9_HUMAN NERCC NM_033116 Q52LK6 Q8NCN0 Q8TCY4 Q8TD19 Q9UPI4 Q9Y6S4 Q9Y6S5 Q9Y6S6 uc001xrl.1 uc001xrl.2 uc001xrl.3 uc001xrl.4 uc001xrl.5 This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB082526.1, SRR1803615.156200.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238616.10/ ENSP00000238616.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Phosphorylates different histones, myelin basic protein, beta-casein, and BICD2. Phosphorylates histone H3 on serine and threonine residues and beta-casein on serine residues. Important for G1/S transition and S phase progression. Phosphorylates NEK6 and NEK7 and stimulates their activity by releasing the autoinhibitory functions of Tyr-108 and Tyr-97 respectively. ATP + a protein = ADP + a phosphoprotein. Magnesium. Activated during mitosis by intramolecular autophosphorylation. Activity and autophosphorylation is activated by manganese >> magnesium ions. Sensitive to increasing concentration of detergents. It is not cell-cycle regulated but activity is higher in G0-arrested cells. Homodimer. Binds to Ran GTPase. Has a greater affinity for Ran-GDP over Ran-GTP. Interacts with NEK6, NEK7 and BICD2. Interacts with SSRP1 and SUPT16H, the 2 subunits of the FACT complex. O95166:GABARAP; NbExp=5; IntAct=EBI-1044009, EBI-712001; Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-1044009, EBI-746969; P60520:GABARAPL2; NbExp=4; IntAct=EBI-1044009, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=2; IntAct=EBI-1044009, EBI-373144; Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-1044009, EBI-2603996; Cytoplasm. Nucleus. Most abundant in heart, liver, kidney and testis. Also expressed in smooth muscle cells and fibroblasts. Expression varied mildly across the cell cycle, with highest expression observed in G1 and stationary-phase cells. Dimerizes through its coiled-coil domain. Autophosphorylated on serine and threonine residues. When complexed with FACT, exhibits markedly elevated phosphorylation on Thr-210. During mitosis, not phosphorylated on Thr-210. Phosphorylated by CDK1 in vitro. Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. Contains 1 protein kinase domain. Contains 6 RCC1 repeats. Sequence=AAD31936.1; Type=Erroneous gene model prediction; Sequence=BAC02704.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein phosphorylation cell cycle mitotic nuclear envelope disassembly kinase activity phosphorylation transferase activity protein kinase binding metal ion binding cell division centrosome  uc001xrl.1 uc001xrl.2 uc001xrl.3 uc001xrl.4 uc001xrl.5 
ENST00000238618.8 ACYP1 ENST00000238618.8 Homo sapiens acylphosphatase 1 (ACYP1), transcript variant 1, mRNA. (from RefSeq NM_001107) ACYP1_HUMAN ACYPE B2R590 ENST00000238618.1 ENST00000238618.2 ENST00000238618.3 ENST00000238618.4 ENST00000238618.5 ENST00000238618.6 ENST00000238618.7 NM_001107 P07311 uc001xrg.1 uc001xrg.2 uc001xrg.3 uc001xrg.4 uc001xrg.5 This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. Its physiological role is not yet clear. An acylphosphate + H(2)O = a carboxylate + phosphate. Organ-common type isozyme is found in many different tissues. Belongs to the acylphosphatase family. Contains 1 acylphosphatase-like domain. acylphosphatase activity phosphate-containing compound metabolic process hydrolase activity  uc001xrg.1 uc001xrg.2 uc001xrg.3 uc001xrg.4 uc001xrg.5 
ENST00000238628.10 IFT43 ENST00000238628.10 Homo sapiens intraflagellar transport 43 (IFT43), transcript variant 1, mRNA. (from RefSeq NM_052873) B3KPT6 B4DZI9 C14orf179 ENST00000238628.1 ENST00000238628.2 ENST00000238628.3 ENST00000238628.4 ENST00000238628.5 ENST00000238628.6 ENST00000238628.7 ENST00000238628.8 ENST00000238628.9 IFT43_HUMAN NM_052873 O95418 Q96FT9 Q9ULA9 uc001xsg.1 uc001xsg.2 uc001xsg.3 This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base. Component of IFT complex A (Probable). Interacts with WDR35/IFT121. Cytoplasm, cytoskeleton. Note=Associated with microtubules. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96FT9-1; Sequence=Displayed; Name=2; IsoId=Q96FT9-2; Sequence=VSP_021169; Note=No experimental confirmation available. Variant in position: 94:D->N (in dbSNP:rs17783366); Name=3; IsoId=Q96FT9-3; Sequence=VSP_041319; Note=No experimental confirmation available; Defects in IFT43 are the cause of cranioectodermal dysplasia type 3 (CED3) [MIM:614099]. A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Belongs to the IFT43 family. protein binding cytoplasm microtubule organizing center cytoskeleton cilium microtubule cytoskeleton cell projection organization intraciliary transport particle A intraciliary retrograde transport intraciliary transport involved in cilium assembly cell projection cilium assembly ciliary tip  uc001xsg.1 uc001xsg.2 uc001xsg.3 
ENST00000238633.6 NPC2 ENST00000238633.6 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMY5) ENST00000238633.1 ENST00000238633.2 ENST00000238633.3 ENST00000238633.4 ENST00000238633.5 GQ891387 J3KMY5 J3KMY5_HUMAN uc059din.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. cell intracellular cholesterol transport  uc059din.1 
ENST00000238647.5 IRF2BPL ENST00000238647.5 Homo sapiens interferon regulatory factor 2 binding protein like (IRF2BPL), mRNA. (from RefSeq NM_024496) C14orf4 EAP1 ENST00000238647.1 ENST00000238647.2 ENST00000238647.3 ENST00000238647.4 I2BPL_HUMAN KIAA1865 My039 NM_024496 Q8NDQ2 Q96JG2 Q9H1B7 Q9H3I7 uc001xsy.1 uc001xsy.2 uc001xsy.3 uc001xsy.4 uc001xsy.5 This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]. ##Evidence-Data-START## Transcript is intronless :: BC108292.1, SRR7346977.1572721.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238647.5/ ENSP00000238647.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May contribute to the control of female reproductive function (By similarity). May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter. Nucleus (By similarity). Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes. The poly-Gln region is polymorphic; the most frequent allele contained 24 Gln. Stretches of 20-31 Gln are observed in healthy individuals. Belongs to the IRF2BP family. Contains 1 RING-type zinc finger. Sequence=BAB47494.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding molecular_function protein binding extracellular space nucleus nucleoplasm nervous system development protein ubiquitination transferase activity positive regulation of transcription from RNA polymerase II promoter development of secondary female sexual characteristics metal ion binding ubiquitin protein ligase activity  uc001xsy.1 uc001xsy.2 uc001xsy.3 uc001xsy.4 uc001xsy.5 
ENST00000238651.10 ACOT2 ENST00000238651.10 Homo sapiens acyl-CoA thioesterase 2 (ACOT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006821) ACOT2_HUMAN ENST00000238651.1 ENST00000238651.2 ENST00000238651.3 ENST00000238651.4 ENST00000238651.5 ENST00000238651.6 ENST00000238651.7 ENST00000238651.8 ENST00000238651.9 NM_006821 P49753 PTE2 PTE2A Q3I5F8 Q53EK4 Q9NUX4 uc001xon.1 uc001xon.2 uc001xon.3 uc001xon.4 uc001xon.5 uc001xon.6 uc001xon.7 This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]. Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs. Palmitoyl-CoA + H(2)O = CoA + palmitate. Kinetic parameters: KM=40.3 uM for C10-acyl-CoA; KM=8.9 uM for C12-acyl-CoA; KM=1.6 uM for C14-acyl-CoA; KM=2.0 uM for C16-acyl-CoA; KM=2.8 uM for C18-acyl-CoA; KM=4.8 uM for C20-acyl-CoA; KM=4.5 uM for C16:1-acyl-CoA; KM=6.1 uM for C18:1-acyl-CoA; KM=4.3 uM for C18:1-trans-acyl-CoA; Vmax=212 nmol/min/mg enzyme toward C10-acyl-CoA; Vmax=681 nmol/min/mg enzyme toward C12-acyl-CoA; Vmax=766 nmol/min/mg enzyme toward C14-acyl-CoA; Vmax=656 nmol/min/mg enzyme toward C16-acyl-CoA; Vmax=488 nmol/min/mg enzyme toward C18-acyl-CoA; Vmax=408 nmol/min/mg enzyme toward C20-acyl-CoA; Vmax=661 nmol/min/mg enzyme toward C16:1-acyl-CoA; Vmax=304 nmol/min/mg enzyme toward C18:1-acyl-CoA; Vmax=418 nmol/min/mg enzyme toward C18:1-trans-acyl-CoA; Mitochondrion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49753-1; Sequence=Displayed; Name=2; IsoId=P49753-2; Sequence=VSP_012225, VSP_012226; Strongest expression in heart, liver, muscle and kidney. Weak in placenta and pancreas. Belongs to the C/M/P thioester hydrolase family. Was originally (PubMed:10944470) thought to be peroxisomal but was later shown (PubMed:16940157) to be mitochondrial. Sequence=AAC42007.1; Type=Frameshift; Positions=215, 226; very long-chain fatty acid metabolic process long-chain fatty acid metabolic process protein binding mitochondrion mitochondrial matrix peroxisomal matrix cytosol protein targeting to peroxisome lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process palmitoyl-CoA hydrolase activity hydrolase activity thiolester hydrolase activity acyl-CoA hydrolase activity carboxylic ester hydrolase activity  uc001xon.1 uc001xon.2 uc001xon.3 uc001xon.4 uc001xon.5 uc001xon.6 uc001xon.7 
ENST00000238667.9 FLVCR2 ENST00000238667.9 Homo sapiens FLVCR heme transporter 2 (FLVCR2), transcript variant 1, mRNA. (from RefSeq NM_017791) B7Z485 C14orf58 ENST00000238667.1 ENST00000238667.2 ENST00000238667.3 ENST00000238667.4 ENST00000238667.5 ENST00000238667.6 ENST00000238667.7 ENST00000238667.8 FLVC2_HUMAN NM_017791 Q53ZT9 Q96JY3 Q9NX90 Q9UPI3 uc001xrs.1 uc001xrs.2 uc001xrs.3 uc001xrs.4 This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]. Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism. Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UPI3-1; Sequence=Displayed; Name=2; IsoId=Q9UPI3-2; Sequence=VSP_043048, VSP_043049; Note=No experimental confirmation available; Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung, liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin. Defects in FLVCR2 are the cause of proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]. It is a rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family. Sequence=BAB55381.1; Type=Erroneous initiation; plasma membrane integral component of plasma membrane heme transporter activity membrane integral component of membrane heme binding transmembrane transport heme export  uc001xrs.1 uc001xrs.2 uc001xrs.3 uc001xrs.4 
ENST00000238671.11 DLST ENST00000238671.11 Homo sapiens dihydrolipoamide S-succinyltransferase (DLST), transcript variant 3, non-coding RNA. (from RefSeq NR_033814) B7ZAZ8 B7ZAZ8_HUMAN ENST00000238671.1 ENST00000238671.10 ENST00000238671.2 ENST00000238671.3 ENST00000238671.4 ENST00000238671.5 ENST00000238671.6 ENST00000238671.7 ENST00000238671.8 ENST00000238671.9 NR_033814 uc059dkm.1 This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]. transferase activity  uc059dkm.1 
ENST00000238682.8 TGFB3 ENST00000238682.8 Homo sapiens transforming growth factor beta 3 (TGFB3), transcript variant 1, mRNA. (from RefSeq NM_003239) ENST00000238682.1 ENST00000238682.2 ENST00000238682.3 ENST00000238682.4 ENST00000238682.5 ENST00000238682.6 ENST00000238682.7 NM_003239 P10600 TGFB3_HUMAN uc001xsc.1 uc001xsc.2 uc001xsc.3 uc001xsc.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]. Involved in embryogenesis and cell differentiation. Homodimer; disulfide-linked. Interacts with ASPN. Secreted. Defects in TGFB3 are a cause of familial arrhythmogenic right ventricular dysplasia type 1 (ARVD1) [MIM:107970]; also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. Belongs to the TGF-beta family. Sequence=CAA33024.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFB3"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfb3/"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tgfb3/"; Name=Wikipedia; Note=TGF beta-3 entry; URL="http://en.wikipedia.org/wiki/TGF_beta_3"; activation of MAPK activity response to hypoxia in utero embryonic development platelet degranulation type II transforming growth factor beta receptor binding cytokine activity transforming growth factor beta receptor binding protein binding extracellular region extracellular space nucleus cytoplasm plasma membrane transforming growth factor beta receptor signaling pathway salivary gland morphogenesis female pregnancy aging growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation cell surface positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation negative regulation of macrophage cytokine production secretory granule T-tubule positive regulation of bone mineralization BMP signaling pathway negative regulation of transforming growth factor beta receptor signaling pathway mammary gland development platelet alpha granule lumen response to progesterone positive regulation of collagen biosynthetic process response to laminar fluid shear stress type I transforming growth factor beta receptor binding type III transforming growth factor beta receptor binding wound healing regulation of cell proliferation odontogenesis uterine wall breakdown identical protein binding regulation of apoptotic process neuronal cell body positive regulation of apoptotic process intracellular membrane-bounded organelle regulation of MAPK cascade negative regulation of neuron apoptotic process response to estrogen ossification involved in bone remodeling cell-cell junction organization positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity lung alveolus development cell development digestive tract development embryonic neurocranium morphogenesis inner ear development transforming growth factor beta binding positive regulation of protein secretion positive regulation of filopodium assembly positive regulation of stress fiber assembly positive regulation of cell division face morphogenesis frontal suture morphogenesis positive regulation of SMAD protein import into nucleus SMAD protein signal transduction detection of hypoxia negative regulation of vascular smooth muscle cell proliferation positive regulation of occluding junction disassembly regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  uc001xsc.1 uc001xsc.2 uc001xsc.3 uc001xsc.4 
ENST00000238686.8 ZC2HC1C ENST00000238686.8 Homo sapiens zinc finger C2HC-type containing 1C (ZC2HC1C), transcript variant 4, mRNA. (from RefSeq NM_001330191) ENST00000238686.1 ENST00000238686.2 ENST00000238686.3 ENST00000238686.4 ENST00000238686.5 ENST00000238686.6 ENST00000238686.7 J3KMY6 J3KMY6_HUMAN NM_001330191 uc059dmp.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. protein binding  uc059dmp.1 
ENST00000238688.9 SLIRP ENST00000238688.9 Homo sapiens SRA stem-loop interacting RNA binding protein (SLIRP), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001267863) C14orf156 DC23 DC50 ENST00000238688.1 ENST00000238688.2 ENST00000238688.3 ENST00000238688.4 ENST00000238688.5 ENST00000238688.6 ENST00000238688.7 ENST00000238688.8 NM_001267863 PD04872 Q9GZT3 SLIRP_HUMAN uc031qpn.1 uc031qpn.2 uc031qpn.3 Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]. RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation. Mitochondrion. Nucleus. Note=Predominantly mitochondrial. Some fraction is nuclear. In the nucleus, it is recruited to nuclear receptor target promoters. Ubiquitously expressed, with highest level in heart, liver, skeletal muscle and testis. Contains 1 RRM (RNA recognition motif) domain. negative regulation of mitochondrial RNA catabolic process acrosomal vesicle nucleic acid binding RNA binding protein binding nucleus cytoplasm mitochondrion spermatid development single fertilization flagellated sperm motility sperm flagellum perinuclear region of cytoplasm mitochondrion morphogenesis ribonucleoprotein complex  uc031qpn.1 uc031qpn.2 uc031qpn.3 
ENST00000238714.8 PAPOLG ENST00000238714.8 Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA. (from RefSeq NM_022894) B2RBH4 ENST00000238714.1 ENST00000238714.2 ENST00000238714.3 ENST00000238714.4 ENST00000238714.5 ENST00000238714.6 ENST00000238714.7 NM_022894 PAP2 PAPG PAPOG_HUMAN Q969N1 Q9BWT3 Q9H8L2 Q9HAD0 uc002sai.1 uc002sai.2 uc002sai.3 uc002sai.4 uc002sai.5 This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.233884.1, SRR1803612.281775.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238714.8/ ENSP00000238714.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA. ATP + RNA(n) = diphosphate + RNA(n+1). Binds 2 magnesium ions. Also active with manganese (By similarity). Nucleus. Expressed predominantly in testis, and weakly in other tissues. Overexpressed in several tumors. Belongs to the poly(A) polymerase family. Sequence=BAB14604.1; Type=Erroneous initiation; nucleotide binding RNA binding polynucleotide adenylyltransferase activity ATP binding nucleus nucleoplasm cytosol mRNA polyadenylation mRNA processing membrane nuclear body transferase activity nucleotidyltransferase activity RNA 3'-end processing RNA polyadenylation metal ion binding  uc002sai.1 uc002sai.2 uc002sai.3 uc002sai.4 uc002sai.5 
ENST00000238721.9 TP53I3 ENST00000238721.9 Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA. (from RefSeq NM_147184) D6W533 ENST00000238721.1 ENST00000238721.2 ENST00000238721.3 ENST00000238721.4 ENST00000238721.5 ENST00000238721.6 ENST00000238721.7 ENST00000238721.8 NM_147184 O14679 O14685 PIG3 Q38G78 Q53FA7 Q6JLE7 Q9BWB8 QORX_HUMAN uc002rez.1 uc002rez.2 uc002rez.3 uc002rez.4 The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. May be involved in the generation of reactive oxygen species (ROS). Has low NADPH-dependent beta-naphthoquinone reductase activity, with a preference for 1,2-beta-naphthoquinone over 1,4-beta-naphthoquinone. Has low NADPH-dependent diamine reductase activity (in vitro). Kinetic parameters: KM=215 uM for 1,2-naphthoquinone; Homodimer. Event=Alternative splicing; Named isoforms=2; Comment=UV radiation favors the production of isoform 2; Name=1; IsoId=Q53FA7-1; Sequence=Displayed; Note=Major isoform under normal light conditions; Name=2; Synonyms=PIG3AS; IsoId=Q53FA7-2; Sequence=VSP_015783, VSP_015784; Note=Major isoform under UV light exposure. Undergoes rapid proteolytic degradation by the proteasome; Isoform 1 and isoform 2 are both activated by p53/TP53, doxorubicin, etoposide and ionizing radiation. Isoform 2 is highly activated by UV radiation. Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily. Sequence=AAC39535.1; Type=Erroneous gene model prediction; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tp53i3/"; NADPH:quinone reductase activity cytosol NADP metabolic process oxidoreductase activity protein homodimerization activity regulation of apoptotic process quinone binding oxidation-reduction process NADPH binding  uc002rez.1 uc002rez.2 uc002rez.3 uc002rez.4 
ENST00000238738.9 RHOQ ENST00000238738.9 Homo sapiens ras homolog family member Q (RHOQ), mRNA. (from RefSeq NM_012249) ENST00000238738.1 ENST00000238738.2 ENST00000238738.3 ENST00000238738.4 ENST00000238738.5 ENST00000238738.6 ENST00000238738.7 ENST00000238738.8 NM_012249 V9HWD0 uc002rva.1 uc002rva.2 uc002rva.3 uc002rva.4 uc002rva.5 This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU794657.1, SRR1660807.165339.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238738.9/ ENSP00000238738.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##  uc002rva.1 uc002rva.2 uc002rva.3 uc002rva.4 uc002rva.5 
ENST00000238788.14 TMEM214 ENST00000238788.14 Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA. (from RefSeq NM_017727) A6NNF2 B3KUI9 B5MCD8 D6W547 ENST00000238788.1 ENST00000238788.10 ENST00000238788.11 ENST00000238788.12 ENST00000238788.13 ENST00000238788.2 ENST00000238788.3 ENST00000238788.4 ENST00000238788.5 ENST00000238788.6 ENST00000238788.7 ENST00000238788.8 ENST00000238788.9 NM_017727 PP446 Q53SW1 Q69YH4 Q6NUQ4 Q8NC45 Q8WZ37 Q9NXH2 TM214_HUMAN uc002ria.1 uc002ria.2 uc002ria.3 uc002ria.4 uc002ria.5 uc002ria.6 O15116:LSM1; NbExp=1; IntAct=EBI-372318, EBI-347619; Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NUQ4-1; Sequence=Displayed; Name=2; IsoId=Q6NUQ4-2; Sequence=VSP_041155; Belongs to the TMEM214 family. Sequence=AAL55739.1; Type=Erroneous initiation; Sequence=BAA91038.1; Type=Erroneous initiation; Sequence=BAC11331.1; Type=Frameshift; Positions=94; Sequence=CAH10591.1; Type=Erroneous initiation; endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol cytoplasmic microtubule apoptotic process membrane integral component of membrane  uc002ria.1 uc002ria.2 uc002ria.3 uc002ria.4 uc002ria.5 uc002ria.6 
ENST00000238789.10 ATAD2B ENST00000238789.10 Homo sapiens ATPase family AAA domain containing 2B (ATAD2B), transcript variant 3, non-coding RNA. (from RefSeq NR_125717) ATD2B_HUMAN B9ZVQ5 ENST00000238789.1 ENST00000238789.2 ENST00000238789.3 ENST00000238789.4 ENST00000238789.5 ENST00000238789.6 ENST00000238789.7 ENST00000238789.8 ENST00000238789.9 KIAA1240 NR_125717 Q6ZNA6 Q8N9E7 Q9ULI0 uc002rek.1 uc002rek.2 uc002rek.3 uc002rek.4 uc002rek.5 uc002rek.6 The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]. ##Evidence-Data-START## Transcript exon combination :: BC171846.1 [ECO:0000332] ##Evidence-Data-END## Binds acetylated lysine residues in histone H1.4, H2A, H2B, H3 and H4 (in vitro). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULI0-1; Sequence=Displayed; Name=2; IsoId=Q9ULI0-2; Sequence=VSP_023276; Belongs to the AAA ATPase family. Contains 1 bromo domain. Sequence=BAD18469.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nucleotide binding chromatin binding ATP binding nucleus nucleoplasm ATPase activity negative regulation of chromatin silencing histone binding positive regulation of transcription from RNA polymerase II promoter lysine-acetylated histone binding  uc002rek.1 uc002rek.2 uc002rek.3 uc002rek.4 uc002rek.5 uc002rek.6 
ENST00000238823.13 FAM98A ENST00000238823.13 Homo sapiens family with sequence similarity 98 member A (FAM98A), transcript variant 1, mRNA. (from RefSeq NM_015475) B2RNA2 ENST00000238823.1 ENST00000238823.10 ENST00000238823.11 ENST00000238823.12 ENST00000238823.2 ENST00000238823.3 ENST00000238823.4 ENST00000238823.5 ENST00000238823.6 ENST00000238823.7 ENST00000238823.8 ENST00000238823.9 FA98A_HUMAN NM_015475 Q8NCA5 Q9Y3Y6 uc002rpa.1 uc002rpa.2 uc002rpa.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NCA5-1; Sequence=Displayed; Name=2; IsoId=Q8NCA5-2; Sequence=VSP_039184; Belongs to the FAM98 family. RNA binding protein binding protein methylation protein methyltransferase activity positive regulation of cell proliferation positive regulation of gene expression lysosome localization tRNA-splicing ligase complex positive regulation of ruffle assembly  uc002rpa.1 uc002rpa.2 uc002rpa.3 
ENST00000238831.9 YIPF4 ENST00000238831.9 Homo sapiens Yip1 domain family member 4 (YIPF4), mRNA. (from RefSeq NM_032312) ENST00000238831.1 ENST00000238831.2 ENST00000238831.3 ENST00000238831.4 ENST00000238831.5 ENST00000238831.6 ENST00000238831.7 ENST00000238831.8 NM_032312 Nbla11189 Q9BSR8 YIPF4_HUMAN uc002rok.1 uc002rok.2 uc002rok.3 uc002rok.4 uc002rok.5 Involved in the maintenance of the Golgi structure. Interacts with YIPF3. Golgi apparatus, cis-Golgi network membrane; Multi-pass membrane protein. Belongs to the YIP1 family. protein binding endoplasmic reticulum Golgi apparatus plasma membrane membrane integral component of membrane intracellular membrane-bounded organelle  uc002rok.1 uc002rok.2 uc002rok.3 uc002rok.4 uc002rok.5 
ENST00000238856.8 AFTPH ENST00000238856.8 Homo sapiens aftiphilin (AFTPH), transcript variant 2, mRNA. (from RefSeq NM_017657) AFTH AFTIN_HUMAN D6W5E9 ENST00000238856.1 ENST00000238856.2 ENST00000238856.3 ENST00000238856.4 ENST00000238856.5 ENST00000238856.6 ENST00000238856.7 NM_017657 Q6ULP2 Q6ZM66 Q86VW3 Q8TCF3 Q9H7E3 Q9HAB9 Q9NXS4 uc002sdb.1 uc002sdb.2 uc002sdb.3 uc002sdb.4 uc002sdb.5 May play a role in membrane trafficking. Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain. Cytoplasm. Note=Colocalizes with AP1G1 and clathrin. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q6ULP2-1; Sequence=Displayed; Name=2; IsoId=Q6ULP2-2; Sequence=VSP_013238; Name=3; IsoId=Q6ULP2-3; Sequence=VSP_013239, VSP_013240; Note=May be due to intron retention. No experimental confirmation available; Name=4; IsoId=Q6ULP2-4; Sequence=VSP_013241; Name=5; IsoId=Q6ULP2-5; Sequence=VSP_013238, VSP_013241; The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself (By similarity). Sequence=AAH22247.1; Type=Frameshift; Positions=919; Sequence=BAB13930.1; Type=Erroneous initiation; Sequence=BAB14949.1; Type=Erroneous initiation; nucleus cytoplasm Golgi apparatus cytosol protein transport AP-1 adaptor complex clathrin binding trans-Golgi network membrane intracellular membrane-bounded organelle intracellular transport  uc002sdb.1 uc002sdb.2 uc002sdb.3 uc002sdb.4 uc002sdb.5 
ENST00000238875.10 LGALSL ENST00000238875.10 Homo sapiens galectin like (LGALSL), mRNA. (from RefSeq NM_014181) B2RBG8 D6W5E8 ENST00000238875.1 ENST00000238875.2 ENST00000238875.3 ENST00000238875.4 ENST00000238875.5 ENST00000238875.6 ENST00000238875.7 ENST00000238875.8 ENST00000238875.9 GRP HSPC159 LEGL_HUMAN NM_014181 Q3ZCW2 Q6P5T6 Q9P005 uc002scy.1 uc002scy.2 uc002scy.3 uc002scy.4 uc002scy.5 uc002scy.6 Does not bind lactose, and may not bind carbohydrates. Monomer (Probable). Contains 1 galectin domain. Most of the residues in the galectin domain that have been shown to be critical for carbohydrate-binding in other galectins are not conserved. protein binding intracellular cytoplasm carbohydrate binding  uc002scy.1 uc002scy.2 uc002scy.3 uc002scy.4 uc002scy.5 uc002scy.6 
ENST00000238892.4 CRIPT ENST00000238892.4 Homo sapiens CXXC repeat containing interactor of PDZ3 domain (CRIPT), mRNA. (from RefSeq NM_014171) CRIPT_HUMAN ENST00000238892.1 ENST00000238892.2 ENST00000238892.3 HSPC139 NM_014171 Q9P021 uc002rve.1 uc002rve.2 uc002rve.3 uc002rve.4 uc002rve.5 uc002rve.6 This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR7346977.2652604.1, SRR5189655.140977.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238892.4/ ENSP00000238892.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity). Interacts with TUBB1. Interacts strongly with the PDZ3 domain of members of the DLG4 family. Associates with microtubules (By similarity). Interacts with DLG4. Cytoplasm (By similarity). Cell junction, synapse (By similarity). Cell projection, dendritic spine (By similarity). Note=Colocalizes with DLG4 in asymmetric synapses (By similarity). Belongs to the CRIPT family. fibrillar center protein binding nucleus nucleolus cytoplasm microtubule binding postsynaptic density cell junction PDZ domain binding dendrite cytoplasmic microtubule organization protein localization to microtubule cell projection neuronal cell body dendritic spine dendritic shaft macromolecular complex binding establishment of protein localization synapse scaffold protein binding regulation of postsynaptic density protein 95 clustering  uc002rve.1 uc002rve.2 uc002rve.3 uc002rve.4 uc002rve.5 uc002rve.6 
ENST00000238918.12 ADGRB3 ENST00000238918.12 Contains 1 GPS domain. (from UniProt J3KMY8) AK295516 BAI3 ENST00000238918.1 ENST00000238918.10 ENST00000238918.11 ENST00000238918.2 ENST00000238918.3 ENST00000238918.4 ENST00000238918.5 ENST00000238918.6 ENST00000238918.7 ENST00000238918.8 ENST00000238918.9 J3KMY8 J3KMY8_HUMAN uc011dxx.1 uc011dxx.2 uc011dxx.3 Contains 1 GPS domain. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. transmembrane signaling receptor activity G-protein coupled receptor activity cell surface receptor signaling pathway G-protein coupled receptor signaling pathway membrane integral component of membrane negative regulation of angiogenesis  uc011dxx.1 uc011dxx.2 uc011dxx.3 
ENST00000238936.8 MFSD13A ENST00000238936.8 Homo sapiens major facilitator superfamily domain containing 13A (MFSD13A), mRNA. (from RefSeq NM_024789) C10orf77 ENST00000238936.1 ENST00000238936.2 ENST00000238936.3 ENST00000238936.4 ENST00000238936.5 ENST00000238936.6 ENST00000238936.7 NM_024789 Q14CX5 Q6NWM8 Q6NWM9 Q6PEZ7 Q9H679 TM180_HUMAN TMEM180 uc001kvt.1 uc001kvt.2 uc001kvt.3 uc001kvt.4 Membrane; Multi-pass membrane protein (Potential). Sequence=AAH67530.2; Type=Erroneous initiation; Sequence=AAH67531.2; Type=Erroneous initiation; Sequence=BAB15385.1; Type=Erroneous initiation; Sequence=CAI12524.1; Type=Erroneous gene model prediction; membrane integral component of membrane  uc001kvt.1 uc001kvt.2 uc001kvt.3 uc001kvt.4 
ENST00000238961.9 SLF2 ENST00000238961.9 Homo sapiens SMC5-SMC6 complex localization factor 2 (SLF2), transcript variant 1, mRNA. (from RefSeq NM_018121) A8K950 C10orf6 ENST00000238961.1 ENST00000238961.2 ENST00000238961.3 ENST00000238961.4 ENST00000238961.5 ENST00000238961.6 ENST00000238961.7 ENST00000238961.8 F178A_HUMAN FAM178A NM_018121 Q5W0L8 Q8IX21 Q9NPE8 uc001krt.1 uc001krt.2 uc001krt.3 uc001krt.4 uc001krt.5 uc001krt.6 Widely expressed. Expressed at higher level in skeletal muscle and at slightly lower level in brain, liver and heart, than in lung, kidney, spleen and thymus. Phosphorylated upon DNA damage, probably by ATM or ATR. Localized in the locus associated with inherited infantile onset spinocerebellar ataxia (IOSCA). No mutation were found associated with IOSCA compared to control subjects. The expression level in the brain was not different between the 2 populations. Belongs to the FAM178 family. Sequence=BAA91657.1; Type=Erroneous initiation; chromatin protein binding nucleus DNA repair cellular response to DNA damage stimulus positive regulation of protein complex assembly ubiquitin protein ligase binding positive regulation of maintenance of mitotic sister chromatid cohesion site of double-strand break intracellular membrane-bounded organelle macromolecular complex binding protein localization to site of double-strand break positive regulation of double-strand break repair  uc001krt.1 uc001krt.2 uc001krt.3 uc001krt.4 uc001krt.5 uc001krt.6 
ENST00000238983.9 LIPF ENST00000238983.9 Homo sapiens lipase F, gastric type (LIPF), transcript variant 2, mRNA. (from RefSeq NM_004190) ENST00000238983.1 ENST00000238983.2 ENST00000238983.3 ENST00000238983.4 ENST00000238983.5 ENST00000238983.6 ENST00000238983.7 ENST00000238983.8 LIPG_HUMAN NM_004190 P07098 Q2M1P6 Q5VXI7 uc001kfg.1 uc001kfg.2 uc001kfg.3 uc001kfg.4 This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Secreted. Belongs to the AB hydrolase superfamily. Lipase family. Sequence=CAA29414.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/lipf/"; triglyceride lipase activity cellular_component extracellular region mitochondrion malate metabolic process lipid metabolic process triglyceride metabolic process lipid binding lipid catabolic process malate dehydrogenase activity hydrolase activity hydrolase activity, acting on ester bonds intracellular membrane-bounded organelle oxidation-reduction process  uc001kfg.1 uc001kfg.2 uc001kfg.3 uc001kfg.4 
ENST00000238994.6 PPP1R3C ENST00000238994.6 Homo sapiens protein phosphatase 1 regulatory subunit 3C (PPP1R3C), mRNA. (from RefSeq NM_005398) B2R7X0 ENST00000238994.1 ENST00000238994.2 ENST00000238994.3 ENST00000238994.4 ENST00000238994.5 NM_005398 O95686 PPP1R5 PPR3C_HUMAN Q9UQK1 uc001kho.1 uc001kho.2 uc001kho.3 uc001kho.4 uc001kho.5 This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX537399.1, SRR1660807.165536.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145544, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000238994.6/ ENSP00000238994.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a glycogen-targeting subunit for PP1 and regulates its activity. Activates glycogen synthase, reduces glycogen phosphorylase activity and limits glycogen breakdown. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in a variety of cell types. Interacts with PPP1CC catalytic subunit of PP1 and associates with glycogen. Forms complexes with glycogen phosphorylase, glycogen synthase and phosphorylase kinase which is necessary for its regulation of PP1 activity. Also interacts with EPM2A/laforin. O95278:EPM2A; NbExp=5; IntAct=EBI-2506727, EBI-2506661; The N-terminal region is required for binding to PP1, the central region is required for binding to glycogen and the C- terminal region is required for binding to glycogen phosphorylase, glycogen synthase and phosphorylase kinase (By similarity). Ubiquitinated by NHLRC1/malin in a EPM2A/laforin-dependent manner. Contains 1 CBM21 (carbohydrate binding type-21) domain. Sequence=AAD33215.1; Type=Erroneous gene model prediction; protein serine/threonine phosphatase activity protein binding cytosol carbohydrate metabolic process glycogen metabolic process glycogen biosynthetic process protein dephosphorylation protein phosphatase binding glycogen binding  uc001kho.1 uc001kho.2 uc001kho.3 uc001kho.4 uc001kho.5 
ENST00000239007.11 MXI1 ENST00000239007.11 Homo sapiens MAX interactor 1, dimerization protein (MXI1), transcript variant 1, mRNA. (from RefSeq NM_005962) B1ANN7 BHLHC11 D3DR25 D3DRA9 ENST00000239007.1 ENST00000239007.10 ENST00000239007.2 ENST00000239007.3 ENST00000239007.4 ENST00000239007.5 ENST00000239007.6 ENST00000239007.7 ENST00000239007.8 ENST00000239007.9 MXI1_HUMAN NM_005962 P50539 Q15887 Q6FHW2 Q96E53 uc001kza.1 uc001kza.2 uc001kza.3 uc001kza.4 Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]. Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX. Interacts with SMC3 (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with RNF17 (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P50539-1; Sequence=Displayed; Name=2; IsoId=P50539-2; Sequence=VSP_012825; Name=3; IsoId=P50539-3; Sequence=VSP_037943; Name=4; IsoId=P50539-4; Sequence=VSP_012825, VSP_043170; High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle. Defects in MXI1 may be a cause of susceptibility to prostate cancer (PC) [MIM:176807]. It is a malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. Contains 1 bHLH (basic helix-loop-helix) domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MXI1ID209.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription corepressor activity protein binding nucleus nucleolus cytosol negative regulation of cell proliferation cytoplasmic sequestering of transcription factor protein dimerization activity RNA polymerase II transcription factor complex RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  uc001kza.1 uc001kza.2 uc001kza.3 uc001kza.4 
ENST00000239032.4 PRLHR ENST00000239032.4 Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA. (from RefSeq NM_004248) ENST00000239032.1 ENST00000239032.2 ENST00000239032.3 GPR10 GR3 NM_004248 O75194 P49683 PRLHR_HUMAN Q502U8 Q5VXR9 uc001ldp.1 uc001ldp.2 uc001ldp.3 PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290461.1, AK313269.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2145544 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239032.4/ ENSP00000239032.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for prolactin-releasing peptide (PrRP). Implicated in lactation, regulation of food intake and pain-signal processing. Interacts through its C-terminal region with the PDZ domain-containing proteins GRIP1, GRIP2 and PICK1. Interacts with PDZ domains 4 and 5 of GRIP1 and with the PDZ domain of PICK1. Cell membrane; Multi-pass membrane protein. Only detected in the pituitary gland and in all cell types of pituitary adenomas. Repressed by bromocriptine, a dopamine agonist. Belongs to the G-protein coupled receptor 1 family. Sequence=AAC50504.1; Type=Frameshift; Positions=168, 175; G-protein coupled receptor activity neuropeptide Y receptor activity protein binding plasma membrane integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway female pregnancy feeding behavior neuropeptide receptor activity membrane integral component of membrane hormone metabolic process  uc001ldp.1 uc001ldp.2 uc001ldp.3 
ENST00000239117.3 KCNIP2 ENST00000239117.3 Homo sapiens potassium voltage-gated channel interacting protein 2 (KCNIP2), transcript variant 7, mRNA. (from RefSeq NM_173197) A6NJE5 A8MQ75 ENST00000239117.1 ENST00000239117.2 KCHIP2 KCIP2_HUMAN NM_173197 Q3YAC6 Q3YAC8 Q3YAC9 Q7Z6F1 Q96K86 Q96T41 Q96T42 Q96T43 Q96T44 Q9H0N4 Q9HD10 Q9HD11 Q9NS60 Q9NS61 Q9NY10 Q9NZI1 uc010qqi.1 uc010qqi.2 uc010qqi.3 uc010qqi.4 This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]. Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Probably modulates channels density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface (By similarity). Component of heteromultimeric potassium channels. The KCND2-KCNIP2 channel complex contains four KCND2 and four KCNIP2 subunits. Interacts with KCND2. Isoform 1 and isoform 3 interact with KCND3 isoform 1. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. At least isoform 2 and isoform 3 can self-associate to form homodimers and homotetramers. Isoform 3 interacts with KCNIP1 in a calcium-dependent manner. Q9NZV8:KCND2; NbExp=3; IntAct=EBI-1053010, EBI-1646745; Q9NZI2:KCNIP1; NbExp=4; IntAct=EBI-1053010, EBI-2120635; Isoform 1: Cell membrane; Lipid-anchor (By similarity). Isoform 2: Cell membrane; Lipid-anchor (By similarity). Isoform 6: Cell membrane; Lipid-anchor (By similarity). Event=Alternative splicing; Named isoforms=9; Name=1; Synonyms=KChIP2a, KChIP2b, KCHIP2.4, KCHIP2L; IsoId=Q9NS61-1; Sequence=Displayed; Name=2; Synonyms=3, KChIP2.1, KChIP2b; IsoId=Q9NS61-2; Sequence=VSP_015052; Name=3; Synonyms=2, KChIP2.2, KChIP2c, KCHIP2S; IsoId=Q9NS61-3; Sequence=VSP_015051; Name=4; IsoId=Q9NS61-4; Sequence=VSP_015050; Name=5; IsoId=Q9NS61-5; Sequence=VSP_015051, VSP_015056; Name=6; Synonyms=KCHIP4.2; IsoId=Q9NS61-6; Sequence=VSP_015053; Name=7; IsoId=Q9NS61-7; Sequence=VSP_015051, VSP_015055; Name=8; Synonyms=KCHIP2.6; IsoId=Q9NS61-8; Sequence=VSP_015049, VSP_015054; Name=9; Synonyms=KCHIP2.5; IsoId=Q9NS61-9; Sequence=VSP_015051, VSP_015057, VSP_015058; Expressed in brain. Colocalizes with KCND2 in excitatory neurons including cortical and hippocampal CA1 pyramidal cells. Isoform 3 is expressed in heart and in umbilical vein endothelial cells. Not expressed in fetal heart. Palmitoylated. Palmitoylation enhances association with the plasma membrane (By similarity). Belongs to the recoverin family. Contains 4 EF-hand domains. voltage-gated ion channel activity A-type (transient outward) potassium channel activity potassium channel activity calcium ion binding detection of calcium ion protein binding cytoplasm plasma membrane ion transport potassium ion transport muscle contraction signal transduction chemical synaptic transmission regulation of heart contraction voltage-gated potassium channel complex potassium channel regulator activity membrane potassium channel complex regulation of ion transmembrane transport identical protein binding ion channel binding clustering of voltage-gated potassium channels metal ion binding ER retention sequence binding protein N-terminus binding cardiac conduction potassium ion transmembrane transport membrane repolarization membrane repolarization during cardiac muscle cell action potential potassium ion export across plasma membrane regulation of potassium ion transmembrane transport positive regulation of potassium ion export across plasma membrane positive regulation of voltage-gated potassium channel activity voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  uc010qqi.1 uc010qqi.2 uc010qqi.3 uc010qqi.4 
ENST00000239144.5 HOXB8 ENST00000239144.5 Homo sapiens homeobox B8 (HOXB8), mRNA. (from RefSeq NM_024016) ENST00000239144.1 ENST00000239144.2 ENST00000239144.3 ENST00000239144.4 HOX2D HXB8_HUMAN NM_024016 P17481 Q9H1I2 uc002inw.1 uc002inw.2 uc002inw.3 uc002inw.4 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK096222.1, AW517327.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239144.5/ ENSP00000239144.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Expressed in whole embryos and fetuses at 5-9 weeks from conception. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development grooming behavior adult locomotory behavior anterior/posterior pattern specification sensory perception of pain dorsal spinal cord development sequence-specific DNA binding negative regulation of myeloid cell differentiation embryonic skeletal system morphogenesis skeletal system morphogenesis  uc002inw.1 uc002inw.2 uc002inw.3 uc002inw.4 
ENST00000239151.6 HOXB5 ENST00000239151.6 Homo sapiens homeobox B5 (HOXB5), mRNA. (from RefSeq NM_002147) B2RC69 ENST00000239151.1 ENST00000239151.2 ENST00000239151.3 ENST00000239151.4 ENST00000239151.5 HOX2A HXB5_HUMAN NM_002147 P09067 P09069 Q17RP4 uc002inr.1 uc002inr.2 uc002inr.3 uc002inr.4 uc002inr.5 This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BI766494.1, M92299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Spinal cord. Embryo. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. Sequence=AAA52681.1; Type=Erroneous initiation; nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytosol regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis anterior/posterior pattern specification sequence-specific DNA binding endothelial cell differentiation positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis embryonic skeletal system development  uc002inr.1 uc002inr.2 uc002inr.3 uc002inr.4 uc002inr.5 
ENST00000239165.9 HOXB7 ENST00000239165.9 Homo sapiens homeobox B7 (HOXB7), mRNA. (from RefSeq NM_004502) A8K3N8 ENST00000239165.1 ENST00000239165.2 ENST00000239165.3 ENST00000239165.4 ENST00000239165.5 ENST00000239165.6 ENST00000239165.7 ENST00000239165.8 HOX2C HXB7_HUMAN NM_004502 P09629 Q15957 Q53FN3 Q96BQ6 uc002inv.1 uc002inv.2 uc002inv.3 uc002inv.4 uc002inv.5 This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M16937.1, SRR5189655.10159.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239165.9/ ENSP00000239165.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. P78527:PRKDC; NbExp=2; IntAct=EBI-1248457, EBI-352053; P13010:XRCC5; NbExp=9; IntAct=EBI-1248457, EBI-357997; Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification nuclear body myeloid cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis positive regulation of branching involved in ureteric bud morphogenesis  uc002inv.1 uc002inv.2 uc002inv.3 uc002inv.4 uc002inv.5 
ENST00000239174.7 HOXB1 ENST00000239174.7 Homo sapiens homeobox B1 (HOXB1), mRNA. (from RefSeq NM_002144) ENST00000239174.1 ENST00000239174.2 ENST00000239174.3 ENST00000239174.4 ENST00000239174.5 ENST00000239174.6 HOX2I HXB1_HUMAN NM_002144 P14653 uc002ink.1 uc002ink.2 uc002ink.3 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X16666.1, CN264618.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239174.7/ ENSP00000355140.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Nucleus. The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively. Defects in HOXB1 are the cause of facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]. A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. Belongs to the Antp homeobox family. Labial subfamily. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development pattern specification process anatomical structure morphogenesis anterior/posterior pattern specification protein domain specific binding rhombomere development rhombomere 4 development rhombomere 5 development facial nerve structural organization facial nucleus development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter anatomical structure formation involved in morphogenesis embryonic skeletal system morphogenesis  uc002ink.1 uc002ink.2 uc002ink.3 
ENST00000239223.4 DUSP1 ENST00000239223.4 Homo sapiens dual specificity phosphatase 1 (DUSP1), mRNA. (from RefSeq NM_004417) CL100 D3DQL9 DUS1_HUMAN ENST00000239223.1 ENST00000239223.2 ENST00000239223.3 MKP1 NM_004417 P28562 PTPN10 Q2V508 VH1 uc003mbv.1 uc003mbv.2 uc003mbv.3 uc003mbv.4 The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC022463.1, X68277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142670 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239223.4/ ENSP00000239223.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dual specificity phosphatase that dephosphorylates MAP kinase MAPK1/ERK2 on both 'Thr-183' and 'Tyr-185'. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. P28482:MAPK1; NbExp=3; IntAct=EBI-975493, EBI-959949; Q13309:SKP2; NbExp=3; IntAct=EBI-975493, EBI-456291; P0CG47:UBB; NbExp=2; IntAct=EBI-975493, EBI-413034; Expressed at high levels in the lung, liver placenta and pancreas. Moderate levels seen in the heart and skeletal muscle. Lower levels found in the brain and kidney. By oxidative stress and heat shock. Phosphorylation at Ser-359 and Ser-364 by MAPK1/ERK2 and MAPK3/ERK1 reduces its rate of degradation (By similarity). Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/dusp1/"; inactivation of MAPK activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity protein binding nucleus cytoplasm protein dephosphorylation cell cycle negative regulation of cell adhesion protein tyrosine/serine/threonine phosphatase activity negative regulation of cell proliferation protein tyrosine/threonine phosphatase activity response to light stimulus response to organic substance dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity growth factor binding response to estradiol response to retinoic acid cellular response to hormone stimulus response to testosterone peptidyl-tyrosine dephosphorylation intracellular signal transduction peptidyl-threonine dephosphorylation response to hydrogen peroxide positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of MAP kinase activity negative regulation of MAPK cascade mitogen-activated protein kinase binding response to glucocorticoid negative regulation of meiotic cell cycle response to cAMP response to calcium ion peptidyl-serine dephosphorylation negative regulation of ERK1 and ERK2 cascade mitotic cell cycle arrest negative regulation of monocyte chemotaxis regulation of mitotic cell cycle spindle assembly checkpoint negative regulation of p38MAPK cascade cellular response to chemokine negative regulation of DNA biosynthetic process  uc003mbv.1 uc003mbv.2 uc003mbv.3 uc003mbv.4 
ENST00000239231.7 PANK3 ENST00000239231.7 Homo sapiens pantothenate kinase 3 (PANK3), mRNA. (from RefSeq NM_024594) D3DQL1 ENST00000239231.1 ENST00000239231.2 ENST00000239231.3 ENST00000239231.4 ENST00000239231.5 ENST00000239231.6 NM_024594 PANK3_HUMAN Q53FJ9 Q7RTX4 Q9H999 uc003lzy.1 uc003lzy.2 uc003lzy.3 uc003lzy.4 uc003lzy.5 This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.11331.1, SRR3476690.841492.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239231.7/ ENSP00000239231.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in the physiological regulation of the intracellular CoA concentration (By similarity). ATP + (R)-pantothenate = ADP + (R)-4'- phosphopantothenate. Regulated by feedback inhibition by CoA and its thioesters (By similarity). Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5. Cytoplasm (Probable). Highly expressed in the liver. Belongs to the type II pantothenate kinase family. nucleotide binding pantothenate kinase activity ATP binding nucleus cytoplasm cytosol coenzyme A biosynthetic process kinase activity phosphorylation transferase activity vitamin binding protein homodimerization activity acetyl-CoA binding  uc003lzy.1 uc003lzy.2 uc003lzy.3 uc003lzy.4 uc003lzy.5 
ENST00000239243.7 MSX2 ENST00000239243.7 Homo sapiens msh homeobox 2 (MSX2), transcript variant 1, mRNA. (from RefSeq NM_002449) D3DQN1 ENST00000239243.1 ENST00000239243.2 ENST00000239243.3 ENST00000239243.4 ENST00000239243.5 ENST00000239243.6 HOX8 MSX2_HUMAN NM_002449 P35548 Q53XM4 Q9UD60 uc003mcy.1 uc003mcy.2 uc003mcy.3 uc003mcy.4 uc003mcy.5 This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008]. Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter. Interacts with MINT (By similarity). Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Nucleus. Defects in MSX2 are the cause of parietal foramina 1 (PFM1) [MIM:168500]; also known as foramina parietalia permagna (FPP). PFM1 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. Defects in MSX2 are the cause of parietal foramina with cleidocranial dysplasia (PFMCCD) [MIM:168550]; also known as cleidocranial dysplasia with parietal foramina. PFMCCD combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2) [MIM:604757]; also known as craniosynostosis Boston-type (CSB). CRS2 is an autosomal dominant disorder characterized by the premature fusion of calvarial sutures. The craniosynostosis phenotype is either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. Belongs to the Msh homeobox family. Contains 1 homeobox DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSX2"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding ossification osteoblast differentiation chondrocyte development osteoblast development outflow tract septum morphogenesis outflow tract morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation endochondral bone growth DNA binding transcription cofactor activity protein binding nucleus cytosol regulation of transcription, DNA-templated multicellular organism development transcription factor binding negative regulation of cell proliferation anterior/posterior pattern specification nuclear speck signal transduction involved in regulation of gene expression embryonic limb morphogenesis BMP signaling pathway positive regulation of BMP signaling pathway negative regulation of CREB transcription factor activity embryonic forelimb morphogenesis embryonic hindlimb morphogenesis wound healing, spreading of epidermal cells embryonic nail plate morphogenesis wound healing odontogenesis embryonic digit morphogenesis regulation of apoptotic process negative regulation of apoptotic process sequence-specific DNA binding transcription regulatory region DNA binding negative regulation of fat cell differentiation negative regulation of keratinocyte differentiation positive regulation of osteoblast differentiation negative regulation of transcription, DNA-templated embryonic morphogenesis stem cell differentiation cartilage development positive regulation of catagen bone trabecula formation bone morphogenesis cranial suture morphogenesis frontal suture morphogenesis branching involved in mammary gland duct morphogenesis mammary gland epithelium development BMP signaling pathway involved in heart development enamel mineralization cellular response to growth factor stimulus cellular response to estradiol stimulus activation of meiosis negative regulation of transcription regulatory region DNA binding positive regulation of mesenchymal cell apoptotic process  uc003mcy.1 uc003mcy.2 uc003mcy.3 uc003mcy.4 uc003mcy.5 
ENST00000239316.4 INSL4 ENST00000239316.4 Homo sapiens insulin like 4 (INSL4), mRNA. (from RefSeq NM_002195) A8K678 ENST00000239316.1 ENST00000239316.2 ENST00000239316.3 INSL4_HUMAN NM_002195 Q14641 Q5W127 uc003ziy.1 uc003ziy.2 uc003ziy.3 uc003ziy.4 INSL4 encodes the insulin-like 4 protein, a member of the insulin superfamily. INSL4 encodes a precursor that undergoes post-translational cleavage to produce 3 polypeptide chains, A-C, that form tertiary structures composed of either all three chains, or just the A and B chains. Expression of INSL4 products occurs within the early placental cytotrophoblast and syncytiotrophoblast. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AU136752.2, AK291543.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239316.4/ ENSP00000239316.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play an important role in trophoblast development and in the regulation of bone formation. Secreted (By similarity). Expressed in placenta, uterus and in fetal perichondrium. Expression levels were increased in both early placentas and molar pregnancies and were reduced in choriocarcinoma cells. Highly expressed in the early placenta. Expression of epil peptides in the villous cytotrophoblast is different from that displayed by the syncytiotrophoblast. In fetal tissues it was identified in the perichondrium of all four limbs, vertebrae, and ribs. It was abundant in interbone ligaments. Belongs to the insulin family. receptor binding insulin-like growth factor receptor binding hormone activity extracellular region extracellular space signal transduction cell-cell signaling positive regulation of chorionic trophoblast cell proliferation  uc003ziy.1 uc003ziy.2 uc003ziy.3 uc003ziy.4 
ENST00000239347.3 IFNA7 ENST00000239347.3 Homo sapiens interferon alpha 7 (IFNA7), mRNA. (from RefSeq NM_021057) ENST00000239347.1 ENST00000239347.2 IFNA7_HUMAN NM_021057 P01567 Q14607 Q5VV14 uc003zop.1 Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. Secreted. Belongs to the alpha/beta interferon family. adaptive immune response T cell activation involved in immune response natural killer cell activation involved in immune response cytokine activity cytokine receptor binding type I interferon receptor binding extracellular region extracellular space defense response humoral immune response cell-cell signaling blood coagulation response to virus cytokine-mediated signaling pathway B cell differentiation positive regulation of peptidyl-serine phosphorylation of STAT protein B cell proliferation response to exogenous dsRNA defense response to virus type I interferon signaling pathway  uc003zop.1 
ENST00000239367.7 LRP11 ENST00000239367.7 Homo sapiens LDL receptor related protein 11 (LRP11), mRNA. (from RefSeq NM_032832) ENST00000239367.1 ENST00000239367.2 ENST00000239367.3 ENST00000239367.4 ENST00000239367.5 ENST00000239367.6 LRP11_HUMAN NM_032832 Q5VYC0 Q86VZ4 Q96SN6 uc003qng.1 uc003qng.2 uc003qng.3 uc003qng.4 Membrane; Single-pass type I membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86VZ4-1; Sequence=Displayed; Name=2; IsoId=Q86VZ4-2; Sequence=VSP_017535, VSP_017536; Note=No experimental confirmation available; Belongs to the LDLR family. Contains 1 LDL-receptor class A domain. Contains 1 MANSC domain. Contains 1 PKD domain. plasma membrane response to heat response to cold response to water deprivation response to mechanical stimulus membrane integral component of membrane multicellular organismal response to stress response to immobilization stress response to starvation phosphoprotein binding  uc003qng.1 uc003qng.2 uc003qng.3 uc003qng.4 
ENST00000239374.8 CCDC170 ENST00000239374.8 Homo sapiens coiled-coil domain containing 170 (CCDC170), mRNA. (from RefSeq NM_025059) C6orf97 CC170_HUMAN ENST00000239374.1 ENST00000239374.2 ENST00000239374.3 ENST00000239374.4 ENST00000239374.5 ENST00000239374.6 ENST00000239374.7 NM_025059 Q5VXB7 Q6P9E4 Q8IYT3 Q96KA9 Q9H5M3 uc003qol.1 uc003qol.2 uc003qol.3 uc003qol.4 uc003qol.5 The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035003.2, SRR1803616.68769.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239374.8/ ENSP00000239374.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Sequence=BAB55025.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH71980.1; Type=Erroneous gene model prediction; Sequence=CAI10943.1; Type=Erroneous gene model prediction; protein binding  uc003qol.1 uc003qol.2 uc003qol.3 uc003qol.4 uc003qol.5 
ENST00000239440.9 ARAP3 ENST00000239440.9 Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. (from RefSeq NM_022481) ARAP3_HUMAN CENTD3 D3DQE3 ENST00000239440.1 ENST00000239440.2 ENST00000239440.3 ENST00000239440.4 ENST00000239440.5 ENST00000239440.6 ENST00000239440.7 ENST00000239440.8 NM_022481 Q8WWN8 uc003llm.1 uc003llm.2 uc003llm.3 uc003llm.4 uc003llm.5 This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ310567.1, AK290052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239440.9/ ENSP00000239440.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) binding. Can be activated by phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4,5)P2) binding, albeit with lower efficiency. Acts on ARF6, RAC1, RHOA and CDC42. Plays a role in the internalization of anthrax toxin. Interacts (via SAM domain) with INPPL1/SHIP2. Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Cell projection, lamellipodium (By similarity). Cell projection, ruffle (By similarity). Note=Cytoplasmic, and associated with F-actin-rich membrane ruffles and lamellipodia (By similarity). Tyrosine phosphorylated at a low basal level. PDGF treatment stimulates phosphorylation. Tyrosine phosphorylation is increased in cells that are in the process of becoming attached to a substrate and that start spreading and flattening (By similarity). Contains 1 Arf-GAP domain. Contains 3 PH domains. Contains 1 Ras-associating domain. Contains 1 Rho-GAP domain. Contains 1 SAM (sterile alpha motif) domain. ruffle GTPase activator activity protein binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm cytosol cytoskeleton plasma membrane cytoskeleton organization signal transduction membrane vesicle-mediated transport lamellipodium cell projection phosphatidylinositol-3,4-bisphosphate binding positive regulation of GTPase activity metal ion binding regulation of small GTPase mediated signal transduction  uc003llm.1 uc003llm.2 uc003llm.3 uc003llm.4 uc003llm.5 
ENST00000239444.4 PCDHB8 ENST00000239444.4 Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. (from RefSeq NM_019120) ENST00000239444.1 ENST00000239444.2 ENST00000239444.3 NM_019120 PCDB8_HUMAN PCDH3I Q9UN66 uc011dai.1 uc011dai.2 uc011dai.3 uc011dai.4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC136801.1, SRR1803614.254952.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239444.4/ ENSP00000239444.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane identical protein binding metal ion binding  uc011dai.1 uc011dai.2 uc011dai.3 uc011dai.4 
ENST00000239446.6 PCDHB10 ENST00000239446.6 Homo sapiens protocadherin beta 10 (PCDHB10), mRNA. (from RefSeq NM_018930) ENST00000239446.1 ENST00000239446.2 ENST00000239446.3 ENST00000239446.4 ENST00000239446.5 NM_018930 PCDBA_HUMAN Q96T99 Q9UN67 UNQ1906/PRO4352 uc003lix.1 uc003lix.2 uc003lix.3 uc003lix.4 uc003lix.5 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660805.27693.1, AK315583.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239446.6/ ENSP00000239446.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  uc003lix.1 uc003lix.2 uc003lix.3 uc003lix.4 uc003lix.5 
ENST00000239449.7 PCDHB14 ENST00000239449.7 Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. (from RefSeq NM_018934) ENST00000239449.1 ENST00000239449.2 ENST00000239449.3 ENST00000239449.4 ENST00000239449.5 ENST00000239449.6 NM_018934 PCDBE_HUMAN Q4FZA4 Q4KN11 Q9Y5E9 uc003ljb.1 uc003ljb.2 uc003ljb.3 uc003ljb.4 uc003ljb.5 uc003ljb.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding protein binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules  uc003ljb.1 uc003ljb.2 uc003ljb.3 uc003ljb.4 uc003ljb.5 uc003ljb.6 
ENST00000239450.4 PCDHB12 ENST00000239450.4 Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. (from RefSeq NM_018932) ENST00000239450.1 ENST00000239450.2 ENST00000239450.3 NM_018932 PCDBC_HUMAN Q9Y5F1 uc003liz.1 uc003liz.2 uc003liz.3 uc003liz.4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC045637.1, SRR1660807.225080.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239450.4/ ENSP00000239450.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane; Single-pass type I membrane protein (By similarity). Contains 6 cadherin domains. calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules nervous system development membrane integral component of membrane  uc003liz.1 uc003liz.2 uc003liz.3 uc003liz.4 
ENST00000239451.7 SLC25A2 ENST00000239451.7 Homo sapiens solute carrier family 25 member 2 (SLC25A2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_031947) ENST00000239451.1 ENST00000239451.2 ENST00000239451.3 ENST00000239451.4 ENST00000239451.5 ENST00000239451.6 NM_031947 ORNT2 ORNT2_HUMAN Q496C1 Q6XUI0 Q8NFZ2 Q9BXI2 uc003ljf.1 uc003ljf.2 uc003ljf.3 uc003ljf.4 This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]. ##Evidence-Data-START## Transcript is intronless :: SRR5189667.155397.1, AF378119.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000239451.7/ ENSP00000239451.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. Mitochondrion inner membrane; Multi-pass membrane protein. Expressed in liver, kidney, pancreas and cultured fibroblasts. Variant Cys-159 has a reduced ornithine transport activity, while variant Gly-181 has an increased activity. Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. urea cycle L-ornithine transmembrane transporter activity mitochondrion mitochondrial inner membrane membrane integral component of membrane mitochondrial L-ornithine transmembrane transport  uc003ljf.1 uc003ljf.2 uc003ljf.3 uc003ljf.4 
ENST00000239461.11 PRRX1 ENST00000239461.11 Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA. (from RefSeq NM_022716) B5BUM7 ENST00000239461.1 ENST00000239461.10 ENST00000239461.2 ENST00000239461.3 ENST00000239461.4 ENST00000239461.5 ENST00000239461.6 ENST00000239461.7 ENST00000239461.8 ENST00000239461.9 NM_022716 O60807 P54821 PMX1 PRRX1_HUMAN uc001ghf.1 uc001ghf.2 uc001ghf.3 uc001ghf.4 uc001ghf.5 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]. Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=2; Name=PMX1-B; IsoId=P54821-1; Sequence=Displayed; Name=PMX1-A; IsoId=P54821-2; Sequence=VSP_002278; Defects in PRRX1 are the cause of agnathia-otocephaly complex (AGOTC) [MIM:202650]. AGOTC is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding positive regulation of mesenchymal cell proliferation DNA binding transcription coactivator activity nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development embryonic limb morphogenesis inner ear morphogenesis middle ear morphogenesis sequence-specific DNA binding positive regulation of smoothened signaling pathway positive regulation of transcription from RNA polymerase II promoter neuron fate determination embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis artery morphogenesis cartilage development palate development regulation of neuron projection regeneration HMG box domain binding neuronal stem cell population maintenance  uc001ghf.1 uc001ghf.2 uc001ghf.3 uc001ghf.4 uc001ghf.5 
ENST00000239462.9 TNN ENST00000239462.9 Homo sapiens tenascin N (TNN), mRNA. (from RefSeq NM_022093) B9EGP3 ENST00000239462.1 ENST00000239462.2 ENST00000239462.3 ENST00000239462.4 ENST00000239462.5 ENST00000239462.6 ENST00000239462.7 ENST00000239462.8 NM_022093 Q5R360 Q9UQP3 TENN_HUMAN uc001gkl.1 uc001gkl.2 Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). Secreted, extracellular space, extracellular matrix. Belongs to the tenascin family. Contains 3 EGF-like domains. Contains 1 fibrinogen C-terminal domain. Contains 9 fibronectin type-III domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TNNID44209ch1q25.html"; osteoblast development molecular_function integrin binding cellular_component extracellular region cell-matrix adhesion axonogenesis cell surface extracellular matrix negative regulation of osteoblast proliferation identical protein binding neuron projection neuronal cell body negative regulation of osteoblast differentiation dendrite self-avoidance CA3 pyramidal cell dendrite negative regulation of canonical Wnt signaling pathway involved in osteoblast differentiation hippocampal mossy fiber expansion negative regulation of neuron migration  uc001gkl.1 uc001gkl.2 
ENST00000239587.10 TTLL2 ENST00000239587.10 Homo sapiens tubulin tyrosine ligase like 2 (TTLL2), mRNA. (from RefSeq NM_031949) B2RB11 B3KS77 C6orf104 ENST00000239587.1 ENST00000239587.2 ENST00000239587.3 ENST00000239587.4 ENST00000239587.5 ENST00000239587.6 ENST00000239587.7 ENST00000239587.8 ENST00000239587.9 NM_031949 Q7Z6R8 Q86X22 Q9BWV7 TTLL2_HUMAN uc003qvs.1 uc003qvs.2 uc003qvs.3 Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins (By similarity). Testis. Belongs to the tubulin--tyrosine ligase family. Contains 1 TTL domain. Product of a dubious CDS prediction. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. nucleotide binding ATP binding cellular protein modification process ligase activity  uc003qvs.1 uc003qvs.2 uc003qvs.3 
ENST00000239614.8 MSANTD2 ENST00000239614.8 Homo sapiens Myb/SANT DNA binding domain containing 2 (MSANTD2), transcript variant 1, mRNA. (from RefSeq NM_024631) B3KRY6 C11orf61 ENST00000239614.1 ENST00000239614.2 ENST00000239614.3 ENST00000239614.4 ENST00000239614.5 ENST00000239614.6 ENST00000239614.7 MSD2_HUMAN NM_024631 Q6P1R3 Q9H042 Q9H5K8 uc001qaz.1 uc001qaz.2 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P1R3-1; Sequence=Displayed; Name=2; IsoId=Q6P1R3-2; Sequence=VSP_022705; Name=3; IsoId=Q6P1R3-3; Sequence=VSP_022706; Note=No experimental confirmation available; Contains 1 Myb-like domain.  uc001qaz.1 uc001qaz.2 
ENST00000239666.9 PDZD11 ENST00000239666.9 Homo sapiens PDZ domain containing 11 (PDZD11), transcript variant 1, mRNA. (from RefSeq NM_016484) D3DVU3 ENST00000239666.1 ENST00000239666.2 ENST00000239666.3 ENST00000239666.4 ENST00000239666.5 ENST00000239666.6 ENST00000239666.7 ENST00000239666.8 HSPC227 NM_016484 PDZ11_HUMAN PDZK11 Q5EBL8 Q6UWE1 Q9P0Q1 UNQ6486/PRO21335 uc004dyd.1 uc004dyd.2 uc004dyd.3 Isoform 2: Secreted (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5EBL8-1; Sequence=Displayed; Name=2; IsoId=Q5EBL8-2; Sequence=VSP_015077; Note=No experimental confirmation available; Contains 1 PDZ (DHR) domain. protein binding extracellular region cytoplasm cytosol plasma membrane cell-cell junction adherens junction biotin metabolic process neurotransmitter secretion protein C-terminus binding pantothenate metabolic process membrane basolateral plasma membrane antimicrobial humoral response cell junction ion transmembrane transport maintenance of epithelial cell apical/basal polarity synapse pore complex pore complex assembly transmembrane transport presynapse protein localization to basolateral plasma membrane  uc004dyd.1 uc004dyd.2 uc004dyd.3 
ENST00000239690.9 NUDCD1 ENST00000239690.9 Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA. (from RefSeq NM_032869) B4DVX6 CML66 ENST00000239690.1 ENST00000239690.2 ENST00000239690.3 ENST00000239690.4 ENST00000239690.5 ENST00000239690.6 ENST00000239690.7 ENST00000239690.8 NM_032869 NUDC1_HUMAN Q4G130 Q8NDQ5 Q8NG18 Q96RS6 Q96SI4 Q9BVR5 uc003ynb.1 uc003ynb.2 uc003ynb.3 uc003ynb.4 uc003ynb.5 uc003ynb.6 Isoform 1: Cytoplasm. Nucleus. Isoform 2: Cytoplasm. Isoform 3: Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=CML66-L; IsoId=Q96RS6-1; Sequence=Displayed; Name=2; Synonyms=CML66-S; IsoId=Q96RS6-2; Sequence=VSP_052558, VSP_052559; Name=3; IsoId=Q96RS6-3; Sequence=VSP_052557, VSP_052560; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Isoform 1 is specifically expressed in leukemias and a variety of solid tumor cell lines and is also detected in testis and heart. Isoform 2 is predominantly expressed in testis and weakly expressed in tumor cells. Isoform 1 is the dominant immunogenic isoform and is capable of eliciting a humoral response in individuals with a variety of solid tumors. Expression of isoform 1 in a wide variety of malignancies as well as the presence of an immunogenic epitope suggest that it may be a suitable target for antigen-specific immunotherapy. Contains 1 CS domain. immune system process protein binding nucleus nucleoplasm cytoplasm cytosol  uc003ynb.1 uc003ynb.2 uc003ynb.3 uc003ynb.4 uc003ynb.5 uc003ynb.6 
ENST00000239830.9 CCDC77 ENST00000239830.9 Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA. (from RefSeq NM_032358) B4DDE8 CCD77_HUMAN ENST00000239830.1 ENST00000239830.2 ENST00000239830.3 ENST00000239830.4 ENST00000239830.5 ENST00000239830.6 ENST00000239830.7 ENST00000239830.8 NM_032358 Q9BR77 uc001qig.1 uc001qig.2 uc001qig.3 uc001qig.4 uc001qig.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BR77-1; Sequence=Displayed; Name=2; IsoId=Q9BR77-2; Sequence=VSP_043135; Note=No experimental confirmation available; centrosome membrane  uc001qig.1 uc001qig.2 uc001qig.3 uc001qig.4 uc001qig.5 
ENST00000239852.10 MTRF1 ENST00000239852.10 mitochondrial translation release factor 1 (from HGNC MTRF1) BC027731 ENST00000239852.1 ENST00000239852.2 ENST00000239852.3 ENST00000239852.4 ENST00000239852.5 ENST00000239852.6 ENST00000239852.7 ENST00000239852.8 ENST00000239852.9 Q8N6Z2 Q8N6Z2_HUMAN hCG_32761 uc058wpp.1  uc058wpp.1 
ENST00000239859.8 CCDC169 ENST00000239859.8 Homo sapiens coiled-coil domain containing 169 (CCDC169), transcript variant 1, mRNA. (from RefSeq NM_001144981) A6NC13 A6NCT2 A6NNP5 B7ZW45 B7ZW49 B9EJF2 C13orf38 CC169_HUMAN ENST00000239859.1 ENST00000239859.2 ENST00000239859.3 ENST00000239859.4 ENST00000239859.5 ENST00000239859.6 ENST00000239859.7 NM_001144981 Q9H1T4 Q9H1T5 uc010abm.1 uc010abm.2 uc010abm.3 uc010abm.4 uc010abm.5 Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=A6NNP5-1; Sequence=Displayed; Name=2; IsoId=A6NNP5-2; Sequence=VSP_035636, VSP_035637; Note=No experimental confirmation available; Name=3; IsoId=A6NNP5-3; Sequence=VSP_040479, VSP_040480; Name=4; IsoId=A6NNP5-4; Sequence=VSP_040480; Name=5; IsoId=A6NNP5-5; Sequence=VSP_040479; Name=6; IsoId=A6NNP5-6; Sequence=VSP_043810, VSP_043811, VSP_040480; Belongs to the CCDC169 family.  uc010abm.1 uc010abm.2 uc010abm.3 uc010abm.4 uc010abm.5 
ENST00000239860.10 CCDC169 ENST00000239860.10 Homo sapiens coiled-coil domain containing 169 (CCDC169), transcript variant 4, mRNA. (from RefSeq NM_001144984) A6NC13 A6NCT2 A6NNP5 B7ZW45 B7ZW49 B9EJF2 C13orf38 CC169_HUMAN ENST00000239860.1 ENST00000239860.2 ENST00000239860.3 ENST00000239860.4 ENST00000239860.5 ENST00000239860.6 ENST00000239860.7 ENST00000239860.8 ENST00000239860.9 NM_001144984 Q9H1T4 Q9H1T5 uc010tel.1 uc010tel.2 uc010tel.3 Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=A6NNP5-1; Sequence=Displayed; Name=2; IsoId=A6NNP5-2; Sequence=VSP_035636, VSP_035637; Note=No experimental confirmation available; Name=3; IsoId=A6NNP5-3; Sequence=VSP_040479, VSP_040480; Name=4; IsoId=A6NNP5-4; Sequence=VSP_040480; Name=5; IsoId=A6NNP5-5; Sequence=VSP_040479; Name=6; IsoId=A6NNP5-6; Sequence=VSP_043810, VSP_043811, VSP_040480; Belongs to the CCDC169 family.  uc010tel.1 uc010tel.2 uc010tel.3 
ENST00000239878.9 UFM1 ENST00000239878.9 Homo sapiens ubiquitin fold modifier 1 (UFM1), transcript variant 7, non-coding RNA. (from RefSeq NR_104585) BM-002 C13orf20 ENST00000239878.1 ENST00000239878.2 ENST00000239878.3 ENST00000239878.4 ENST00000239878.5 ENST00000239878.6 ENST00000239878.7 ENST00000239878.8 NR_104585 P61960 Q14346 Q5VXS0 Q6IAG6 Q9CPX2 Q9NZF2 UFM1_HUMAN uc001uwu.1 uc001uwu.2 uc001uwu.3 uc001uwu.4 uc001uwu.5 uc001uwu.6 UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]. Ubiquitin-like modifier protein which binds to a number of target proteins, such as DDRGK1. Q96JB5:CDK5RAP3; NbExp=1; IntAct=EBI-1045061, EBI-718818; Nucleus. Cytoplasm. Note=Predominantly nuclear. Also expressed diffusely in the cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61960-1; Sequence=Displayed; Name=2; IsoId=P61960-2; Sequence=VSP_041186; Belongs to the UFM1 family. protein binding nucleus cytoplasm endoplasmic reticulum brain development regulation of intracellular estrogen receptor signaling pathway response to endoplasmic reticulum stress negative regulation of apoptotic process protein ufmylation protein K69-linked ufmylation  uc001uwu.1 uc001uwu.2 uc001uwu.3 uc001uwu.4 uc001uwu.5 uc001uwu.6 
ENST00000239882.7 ELF1 ENST00000239882.7 Homo sapiens E74 like ETS transcription factor 1 (ELF1), transcript variant 1, mRNA. (from RefSeq NM_172373) ELF1_HUMAN ENST00000239882.1 ENST00000239882.2 ENST00000239882.3 ENST00000239882.4 ENST00000239882.5 ENST00000239882.6 NM_172373 P32519 Q8N6F6 Q9UDE1 uc001uxs.1 uc001uxs.2 uc001uxs.3 uc001uxs.4 uc001uxs.5 This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]. Transcription factor that activates the LYN and BLK promoters. Appears to be required for the T-cell-receptor-mediated trans activation of HIV-2 gene expression. Binds specifically to two purine-rich motifs in the HIV-2 enhancer. Binds to the underphosphorylated form of RB. May interact with other transcription factors in order to regulate specific genes. Interacts with RUNX1. P31276:HOXC13; NbExp=3; IntAct=EBI-765526, EBI-2293590; P08047:SP1; NbExp=2; IntAct=EBI-765526, EBI-298336; Nucleus. In fetal tissues, it is highly expressed in heart, lung liver and kidney, and weakly expressed in brain. In adult, it is highly expressed in pancreas, spleen, thymus and peripheral blood leukocytes, expressed at moderate levels in heart, placenta, lung, liver, skeletal muscle, kidney, prostate, ovary, small intestine and colon, and weakly expressed in brain and testis. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding regulation of cytokine production regulation of cytokine-mediated signaling pathway DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell differentiation sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of B cell receptor signaling pathway negative regulation of T cell receptor signaling pathway  uc001uxs.1 uc001uxs.2 uc001uxs.3 uc001uxs.4 uc001uxs.5 
ENST00000239891.4 ALG5 ENST00000239891.4 Homo sapiens ALG5 dolichyl-phosphate beta-glucosyltransferase (ALG5), transcript variant 1, mRNA. (from RefSeq NM_013338) ALG5_HUMAN B4DR37 ENST00000239891.1 ENST00000239891.2 ENST00000239891.3 HSPC149 NM_013338 Q5TBA6 Q9Y673 uc001uvy.1 uc001uvy.2 uc001uvy.3 uc001uvy.4 uc001uvy.5 This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. UDP-glucose + dolichyl phosphate = UDP + dolichyl beta-D-glucosyl phosphate. Protein modification; protein glycosylation. Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y673-1; Sequence=Displayed; Name=2; IsoId=Q9Y673-2; Sequence=VSP_041019; Note=No experimental confirmation available; Expressed in pancreas, placenta, liver, heart, brain, kidney, skeletal muscle, and lung. Belongs to the glycosyltransferase 2 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; oligosaccharyl transferase activity dolichyl-phosphate beta-glucosyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane protein glycosylation protein N-linked glycosylation determination of left/right symmetry membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups protein N-linked glycosylation via asparagine  uc001uvy.1 uc001uvy.2 uc001uvy.3 uc001uvy.4 uc001uvy.5 
ENST00000239893.9 EXOSC8 ENST00000239893.9 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H7C5Z2) BC020773 ENST00000239893.1 ENST00000239893.2 ENST00000239893.3 ENST00000239893.4 ENST00000239893.5 ENST00000239893.6 ENST00000239893.7 ENST00000239893.8 H7C5Z2 H7C5Z2_HUMAN uc058wll.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc058wll.1 
ENST00000239906.10 FAM53C ENST00000239906.10 Homo sapiens family with sequence similarity 53 member C (FAM53C), transcript variant 2, mRNA. (from RefSeq NM_016605) B2RDJ5 C5orf6 D3DQB9 ENST00000239906.1 ENST00000239906.2 ENST00000239906.3 ENST00000239906.4 ENST00000239906.5 ENST00000239906.6 ENST00000239906.7 ENST00000239906.8 ENST00000239906.9 FA53C_HUMAN NM_016605 Q9NYF3 uc003lcw.1 uc003lcw.2 uc003lcw.3 uc003lcw.4 uc003lcw.5 The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]. Belongs to the FAM53 family. protein binding nucleus protein import into nucleus  uc003lcw.1 uc003lcw.2 uc003lcw.3 uc003lcw.4 uc003lcw.5 
ENST00000239926.9 MYOT ENST00000239926.9 Homo sapiens myotilin (MYOT), transcript variant 1, mRNA. (from RefSeq NM_006790) A0A0C4DFM5 ENST00000239926.1 ENST00000239926.2 ENST00000239926.3 ENST00000239926.4 ENST00000239926.5 ENST00000239926.6 ENST00000239926.7 ENST00000239926.8 NM_006790 uc003lbv.1 uc003lbv.2 uc003lbv.3 uc003lbv.4 uc003lbv.5 This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008].  uc003lbv.1 uc003lbv.2 uc003lbv.3 uc003lbv.4 uc003lbv.5 
ENST00000239938.5 EGR1 ENST00000239938.5 Homo sapiens early growth response 1 (EGR1), mRNA. (from RefSeq NM_001964) ENST00000239938.1 ENST00000239938.2 ENST00000239938.3 ENST00000239938.4 NM_001964 Q546S1 Q546S1_HUMAN hCG_18777 uc003ldb.1 uc003ldb.2 uc003ldb.3 The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M62829.1, X52541.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239938.5/ ENSP00000239938.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding response to hypoxia response to ischemia nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated response to glucose T cell differentiation BMP signaling pathway response to insulin circadian regulation of gene expression skeletal muscle cell differentiation regulation of apoptotic process transcription regulatory region DNA binding estrous cycle positive regulation of chemokine biosynthetic process locomotor rhythm positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of hormone biosynthetic process positive regulation of interleukin-1 beta biosynthetic process circadian temperature homeostasis regulation of transcription from RNA polymerase II promoter in response to hypoxia cellular response to organic substance cellular response to gamma radiation negative regulation of canonical Wnt signaling pathway positive regulation of neuron death positive regulation of tau-protein kinase activity regulation of progesterone biosynthetic process  uc003ldb.1 uc003ldb.2 uc003ldb.3 
ENST00000239940.12 PFN2 ENST00000239940.12 Homo sapiens profilin 2 (PFN2), transcript variant 1, mRNA. (from RefSeq NM_053024) B2R4C8 D3DNI4 ENST00000239940.1 ENST00000239940.10 ENST00000239940.11 ENST00000239940.2 ENST00000239940.3 ENST00000239940.4 ENST00000239940.5 ENST00000239940.6 ENST00000239940.7 ENST00000239940.8 ENST00000239940.9 NM_053024 P35080 PROF2_HUMAN Q4VBQ4 Q8WVF9 Q9HBK2 uc003ext.1 uc003ext.2 uc003ext.3 uc003ext.4 The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]. Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio. Q14789:GOLGB1; NbExp=2; IntAct=EBI-473138, EBI-709973; P42858:HTT; NbExp=4; IntAct=EBI-473138, EBI-466029; O08816:Wasl (xeno); NbExp=3; IntAct=EBI-473138, EBI-6142604; Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=2; Name=IIa; IsoId=P35080-1; Sequence=Displayed; Name=IIb; IsoId=P35080-2; Sequence=VSP_005217; Highly expressed in brain, skeletal muscle and kidney and less strongly in heart, placenta, lung and liver. Belongs to the profilin family. actin binding actin monomer binding protein binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm cytoskeleton negative regulation of epithelial cell migration ATPase activity actin cytoskeleton organization regulation of actin filament polymerization negative regulation of actin filament polymerization positive regulation of actin filament polymerization positive regulation of actin filament bundle assembly positive regulation of ATPase activity positive regulation of peptidyl-serine phosphorylation protein stabilization positive regulation of stress fiber assembly extracellular exosome presynapse postsynapse modification of postsynaptic actin cytoskeleton glutamatergic synapse negative regulation of ruffle assembly regulation of synaptic vesicle exocytosis  uc003ext.1 uc003ext.2 uc003ext.3 uc003ext.4 
ENST00000239944.7 SERP1 ENST00000239944.7 Homo sapiens stress associated endoplasmic reticulum protein 1 (SERP1), mRNA. (from RefSeq NM_014445) D3DNI6 ENST00000239944.1 ENST00000239944.2 ENST00000239944.3 ENST00000239944.4 ENST00000239944.5 ENST00000239944.6 NM_014445 Q9Y6X1 RAMP4 SERP1_HUMAN uc003exy.1 uc003exy.2 uc003exy.3 uc003exy.4 uc003exy.5 Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins (By similarity). Interacts with SEC61B, SEC61A1 and the SEC61 complex. Interacts with CANX (By similarity). Membrane; Single-pass type IV membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side (By similarity). Belongs to the RAMP4 family. skeletal system development protein binding endoplasmic reticulum endoplasmic reticulum membrane cytosol ribosome cytoplasmic microtubule glucose metabolic process cellular protein modification process protein glycosylation plasma membrane organization post-embryonic development multicellular organism aging protein transport membrane integral component of membrane endoplasmic reticulum unfolded protein response positive regulation of insulin secretion IRE1-mediated unfolded protein response positive regulation of translation positive regulation of organ growth muscle organ morphogenesis positive regulation of growth hormone secretion  uc003exy.1 uc003exy.2 uc003exy.3 uc003exy.4 uc003exy.5 
ENST00000240050.9 MTERF2 ENST00000240050.9 Homo sapiens mitochondrial transcription termination factor 2 (MTERF2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001033050) ENST00000240050.1 ENST00000240050.2 ENST00000240050.3 ENST00000240050.4 ENST00000240050.5 ENST00000240050.6 ENST00000240050.7 ENST00000240050.8 MTER3_HUMAN MTERFD3 NM_001033050 Q49AM1 Q53HM2 Q9H4L6 Q9H7Y9 uc001tmf.1 uc001tmf.2 uc001tmf.3 Binds promoter DNA and regulates mitochondrial transcription. Required for normal levels of transcription, both for mRNA and tRNA. Required for normal mitochondrial protein synthesis, assembly of respiratory complexes and normal mitochondrial function (By similarity). Monomer. Homodimer (By similarity). Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid (By similarity). Expressed in skeletal muscle, heart, liver and pancreas. Belongs to the mTERF family. DNA binding double-stranded DNA binding mitochondrion regulation of transcription, DNA-templated termination of mitochondrial transcription mitochondrial nucleoid  uc001tmf.1 uc001tmf.2 uc001tmf.3 
ENST00000240055.8 NFYB ENST00000240055.8 Homo sapiens nuclear transcription factor Y subunit beta (NFYB), mRNA. (from RefSeq NM_006166) A8K7B9 ENST00000240055.1 ENST00000240055.2 ENST00000240055.3 ENST00000240055.4 ENST00000240055.5 ENST00000240055.6 ENST00000240055.7 HAP3 NFYB_HUMAN NM_006166 P25208 Q96IY8 uc001tkl.1 uc001tkl.2 uc001tkl.3 The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.247352.1, SRR1803615.55114.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240055.8/ ENSP00000240055.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Stimulates the transcription of various genes by recognizing and binding to a CCAAT motif in promoters, for example in type 1 collagen, albumin and beta-actin genes. Heterotrimeric transcription factor composed of three components, NF-YA, NF-YB and NF-YC. NF-YB and NF-YC must interact and dimerize for NF-YA association and DNA binding. P23511:NFYA; NbExp=4; IntAct=EBI-389728, EBI-389739; Q13952:NFYC; NbExp=3; IntAct=EBI-389728, EBI-389755; Nucleus. Can be divided into 3 domains: the weakly conserved A domain, the highly conserved B domain thought to be involved in subunit interaction and DNA binding, and the Glu-rich C domain. Belongs to the NFYB/HAP3 subunit family. Sequence=CAA42230.1; Type=Erroneous initiation; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein-DNA complex sequence-specific DNA binding transcription regulatory region DNA binding macromolecular complex binding regulation of cholesterol biosynthetic process positive regulation of transcription, DNA-templated protein heterodimerization activity repressing transcription factor binding RNA polymerase II transcription factor complex cellular response to leukemia inhibitory factor RNA polymerase II distal enhancer sequence-specific DNA binding  uc001tkl.1 uc001tkl.2 uc001tkl.3 
ENST00000240079.11 WASHC3 ENST00000240079.11 Homo sapiens WASH complex subunit 3 (WASHC3), transcript variant 1, mRNA. (from RefSeq NM_016053) AD-016 B2RC74 CCD53_HUMAN CCDC53 CGI-116 ENST00000240079.1 ENST00000240079.10 ENST00000240079.2 ENST00000240079.3 ENST00000240079.4 ENST00000240079.5 ENST00000240079.6 ENST00000240079.7 ENST00000240079.8 ENST00000240079.9 NM_016053 Q53FF0 Q6IAI4 Q96QK0 Q9Y3C0 uc010svw.1 uc010svw.2 uc010svw.3 uc010svw.4 x0009 Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Component of the WASH complex, composed of F-actin- capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin- capping protein subunit beta (CAPZB), WASH (WASH1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), FAM21 (FAM21A, FAM21B or FAM21C), KIAA1033, KIAA0196 and CCDC53. Q96EZ8:MCRS1; NbExp=3; IntAct=EBI-712969, EBI-348259; Q96AQ6:PBXIP1; NbExp=3; IntAct=EBI-712969, EBI-740845; Belongs to the CCDC53 family. protein binding endosome early endosome exocytosis biological_process protein transport actin filament polymerization WASH complex  uc010svw.1 uc010svw.2 uc010svw.3 uc010svw.4 
ENST00000240093.8 FZD3 ENST00000240093.8 Homo sapiens frizzled class receptor 3 (FZD3), transcript variant 1, mRNA. (from RefSeq NM_017412) ENST00000240093.1 ENST00000240093.2 ENST00000240093.3 ENST00000240093.4 ENST00000240093.5 ENST00000240093.6 ENST00000240093.7 FZD3_HUMAN NM_017412 Q9NPG1 uc003xgx.1 uc003xgx.2 uc003xgx.3 uc003xgx.4 uc003xgx.5 This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. The function of this protein is unknown, although it may play a role in mammalian hair follicle development. Alternative splicing results in multiple transcript variants. This gene is a susceptibility locus for schizophrenia. [provided by RefSeq, Dec 2010]. Receptor for Wnt proteins. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK- 3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues. Interacts with VANGL2 (By similarity). Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q9NPG1-1; Sequence=Displayed; Name=Short; Synonyms=FZD3deltaC; IsoId=Q9NPG1-2; Sequence=Not described; Widely expressed. Relatively high expression in the CNS, including regions of the limbic system, in kidney, pancreas, skeletal muscle, uterus and testis. Lys-Thr-X-X-X-Trp motif interacts with the PDZ doman of Dvl (Disheveled) family members and is involved in the activation of the Wnt/beta-catenin signaling pathway (By similarity). The FZ domain is involved in binding with Wnt ligands (By similarity). Ubiquitinated by ZNRF3, leading to its degradation by the proteasome (By similarity). Belongs to the G-protein coupled receptor Fz/Smo family. Contains 1 FZ (frizzled) domain. establishment of planar polarity neuron migration neural tube closure hair follicle development positive regulation of neuroblast proliferation transmembrane signaling receptor activity G-protein coupled receptor activity protein binding cytoplasm plasma membrane signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway Wnt signaling pathway, calcium modulating pathway multicellular organism development nervous system development brain development cell surface membrane integral component of membrane Wnt signaling pathway apical plasma membrane lateral plasma membrane Wnt-protein binding PDZ domain binding neuron differentiation axon dendrite midbrain development filopodium tip cell proliferation in midbrain non-canonical Wnt signaling pathway post-anal tail morphogenesis dopaminergic neuron axon guidance serotonergic neuron axon guidance inner ear morphogenesis response to drug Wnt-activated receptor activity neuronal cell body apical part of cell negative regulation of mitotic cell cycle, embryonic presynaptic active zone response to electrical stimulus canonical Wnt signaling pathway Wnt signaling pathway, planar cell polarity pathway sympathetic ganglion development commissural neuron axon guidance negative regulation of execution phase of apoptosis midbrain morphogenesis planar cell polarity pathway involved in axon guidance  uc003xgx.1 uc003xgx.2 uc003xgx.3 uc003xgx.4 uc003xgx.5 
ENST00000240095.10 SLC39A14 ENST00000240095.10 Homo sapiens solute carrier family 39 member 14 (SLC39A14), transcript variant 4, mRNA. (from RefSeq NM_001135154) A6NH98 B4DIW3 B6EU88 D3DSR4 ENST00000240095.1 ENST00000240095.2 ENST00000240095.3 ENST00000240095.4 ENST00000240095.5 ENST00000240095.6 ENST00000240095.7 ENST00000240095.8 ENST00000240095.9 KIAA0062 NM_001135154 Q15043 Q6ZME8 Q96BB3 S39AE_HUMAN ZIP14 uc011kzg.1 uc011kzg.2 uc011kzg.3 This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC015770.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465408 [ECO:0000348] ##Evidence-Data-END## May mediate cellular uptake of nontransferrin-bound iron (By similarity). Broad-scope metal ion transporter with a preference for zinc uptake. Homotrimer. Cell membrane; Multi-pass membrane protein (Potential). Cell projection, lamellipodium. Note=Localized to the plasma membrane and also found colocalized with F-actin concentrated on lamellipodiae. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15043-1; Sequence=Displayed; Name=2; IsoId=Q15043-2; Sequence=VSP_029728; Note=No experimental confirmation available; Name=3; IsoId=Q15043-3; Sequence=VSP_040139; Ubiquitously expressed, with increased expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart. Weakly expressed in spleen, thymus, and peripheral blood leukocytes. Belongs to the ZIP transporter (TC 2.A.5) family. Sequence=BAA06685.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; manganese ion transmembrane transporter activity zinc ion transmembrane transporter activity cytoplasm plasma membrane integral component of plasma membrane ion transport iron ion transport zinc II ion transport cellular zinc ion homeostasis ferrous iron transmembrane transporter activity membrane integral component of membrane metal ion transport lamellipodium iron ion transmembrane transport cell projection metal ion transmembrane transporter activity transmembrane transport manganese ion transmembrane transport zinc II ion transmembrane transport zinc II ion transmembrane import  uc011kzg.1 uc011kzg.2 uc011kzg.3 
ENST00000240100.7 DUSP4 ENST00000240100.7 Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA. (from RefSeq NM_001394) B2RBU5 D3DSU4 DUS4_HUMAN ENST00000240100.1 ENST00000240100.2 ENST00000240100.3 ENST00000240100.4 ENST00000240100.5 ENST00000240100.6 MKP2 NM_001394 Q13115 Q13524 VH2 uc003xhm.1 uc003xhm.2 uc003xhm.3 uc003xhm.4 uc003xhm.5 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]. Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Hollow spherical complex composed of 24 subunits with pseudooctahedral symmetry, has a tetramer as the basic unit. Nucleus. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. inactivation of MAPK activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity protein tyrosine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity peptidyl-tyrosine dephosphorylation peptidyl-threonine dephosphorylation negative regulation of ERK1 and ERK2 cascade MAP kinase threonine phosphatase activity  uc003xhm.1 uc003xhm.2 uc003xhm.3 uc003xhm.4 uc003xhm.5 
ENST00000240101.2 DUSP4 ENST00000240101.2 Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 2, mRNA. (from RefSeq NM_057158) B2RBU5 D3DSU4 DUS4_HUMAN ENST00000240101.1 MKP2 NM_057158 Q13115 Q13524 VH2 uc003xhl.1 uc003xhl.2 uc003xhl.3 uc003xhl.4 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK1, ERK2 and JNK, is expressed in a variety of tissues, and is localized in the nucleus. Two alternatively spliced transcript variants, encoding distinct isoforms, have been observed for this gene. In addition, multiple polyadenylation sites have been reported. [provided by RefSeq, Jul 2008]. Regulates mitogenic signal transduction by dephosphorylating both Thr and Tyr residues on MAP kinases ERK1 and ERK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. A phosphoprotein + H(2)O = a protein + phosphate. Hollow spherical complex composed of 24 subunits with pseudooctahedral symmetry, has a tetramer as the basic unit. Nucleus. Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. inactivation of MAPK activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity protein tyrosine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity peptidyl-tyrosine dephosphorylation peptidyl-threonine dephosphorylation negative regulation of ERK1 and ERK2 cascade MAP kinase threonine phosphatase activity  uc003xhl.1 uc003xhl.2 uc003xhl.3 uc003xhl.4 
ENST00000240123.12 SORBS3 ENST00000240123.12 Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA. (from RefSeq NM_005775) ENST00000240123.1 ENST00000240123.10 ENST00000240123.11 ENST00000240123.2 ENST00000240123.3 ENST00000240123.4 ENST00000240123.5 ENST00000240123.6 ENST00000240123.7 ENST00000240123.8 ENST00000240123.9 NM_005775 O60504 Q5BJE4 Q6NX54 Q96FY4 Q9UQE4 SCAM1 VINEX_HUMAN uc003xbv.1 uc003xbv.2 uc003xbv.3 uc003xbv.4 uc003xbv.5 This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain. Interacts with DLG5 through its third SH3 domain (By similarity). Interacts with vinculin by the first two SH3 domains and the proline rich region of vinculin. Binds to SOS (guanine nucleotide exchange factor of RAS and RAC), through its third SH3 domain. The formation of this complex is down-regulated by phosphorylation of SOS. Interacts with INPPL1/SHIP2, SAFB2, SOCS7 and SRCIN1. Interacts with FASLG. Interacts with MAPK1/ERK2 (By similarity). Q14151:SAFB2; NbExp=3; IntAct=EBI-1222956, EBI-352869; Q9QWI6-2:Srcin1 (xeno); NbExp=4; IntAct=EBI-1222956, EBI-775607; O00401:WASL; NbExp=2; IntAct=EBI-1222956, EBI-957615; Isoform Alpha: Cell junction (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Localized at cell-extracellular matrix junctions (By similarity). Both isoforms were localized at focal adhesion and cell-cell adhesion sites. Isoform Beta: Cell junction (By similarity). Nucleus. Cytoplasm, cytoskeleton (By similarity). Note=Localized at cell-extracellular matrix junctions (By similarity). Both isoforms were localized at focal adhesion and cell-cell adhesion sites, vinexin beta was also found in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=Alpha; IsoId=O60504-1; Sequence=Displayed; Name=Beta; IsoId=O60504-2; Sequence=VSP_004489; Both isoforms are expressed in different tissues like heart, placenta, brain, skeletal muscle and pancreas. Isoform beta is especially found in liver. Phosphorylated at Ser-530 by MAPK1/ERK2 during cell spreading (By similarity). Contains 3 SH3 domains. Contains 1 SoHo domain. negative regulation of transcription from RNA polymerase II promoter structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol cytoskeleton focal adhesion muscle contraction actin filament organization cell adhesion transcription factor binding vinculin binding cell junction cell-substrate adhesion positive regulation of MAPK cascade positive regulation of cytoskeleton organization positive regulation of stress fiber assembly  uc003xbv.1 uc003xbv.2 uc003xbv.3 uc003xbv.4 uc003xbv.5 
ENST00000240132.7 CHRNA2 ENST00000240132.7 Homo sapiens cholinergic receptor nicotinic alpha 2 subunit (CHRNA2), transcript variant 2, mRNA. (from RefSeq NM_001282455) A8KAX3 ACHA2_HUMAN ENST00000240132.1 ENST00000240132.2 ENST00000240132.3 ENST00000240132.4 ENST00000240132.5 ENST00000240132.6 NM_001282455 Q15822 Q9HAQ3 uc011lal.1 uc011lal.2 uc011lal.3 uc011lal.4 Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]. After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Neuronal AChR seems to be composed of two different types of subunits: alpha and non-alpha (beta). Alpha-2 subunit can be combined to beta-2 or beta-4 to give rise to functional receptors. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Defects in CHRNA2 are the cause of nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353]. ENFL4 is an autosomal dominant epilepsy characterized by nocturnal seizures associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Alpha- 2/CHRNA2 sub-subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNA2"; transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity plasma membrane integral component of plasma membrane acetylcholine-gated channel complex ion transport signal transduction chemical synaptic transmission synaptic transmission, cholinergic neuromuscular synaptic transmission drug binding acetylcholine receptor activity membrane integral component of membrane acetylcholine-gated cation-selective channel activity cell junction ion transmembrane transport response to nicotine acetylcholine binding regulation of membrane potential neuron projection synapse postsynaptic membrane neurological system process protein heterooligomerization regulation of postsynaptic membrane potential excitatory postsynaptic potential cell periphery  uc011lal.1 uc011lal.2 uc011lal.3 uc011lal.4 
ENST00000240139.10 PPP3CC ENST00000240139.10 Homo sapiens protein phosphatase 3 catalytic subunit gamma (PPP3CC), transcript variant 2, mRNA. (from RefSeq NM_005605) CALNA3 CNA3 ENST00000240139.1 ENST00000240139.2 ENST00000240139.3 ENST00000240139.4 ENST00000240139.5 ENST00000240139.6 ENST00000240139.7 ENST00000240139.8 ENST00000240139.9 NM_005605 P48454 PP2BC_HUMAN Q9BSS6 Q9H4M5 uc003xbs.1 uc003xbs.2 uc003xbs.3 uc003xbs.4 uc003xbs.5 Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. Calcium-dependent, calmodulin-stimulated protein phosphatase. This subunit may have a role in the calmodulin activation of calcineurin. A phosphoprotein + H(2)O = a protein + phosphate. Binds 1 Fe(3+) ion per subunit (By similarity). Binds 1 zinc ion per subunit (By similarity). Composed of two components (A and B), the A component is the catalytic subunit and the B component confers calcium sensitivity. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48454-1; Sequence=Displayed; Name=2; IsoId=P48454-2; Sequence=VSP_037946; Testis. Belongs to the PPP phosphatase family. PP-2B subfamily. phosphoprotein phosphatase activity protein binding calmodulin binding cytoplasm mitochondrion cytosol calcineurin complex protein dephosphorylation brain development hydrolase activity calcineurin-NFAT signaling cascade calmodulin-dependent protein phosphatase activity metal ion binding calcineurin-mediated signaling presynapse glutamatergic synapse presynaptic cytosol regulation of synaptic vesicle endocytosis positive regulation of synaptic vesicle endocytosis positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway  uc003xbs.1 uc003xbs.2 uc003xbs.3 uc003xbs.4 uc003xbs.5 
ENST00000240159.8 RNF170 ENST00000240159.8 Homo sapiens ring finger protein 170 (RNF170), transcript variant 5, non-coding RNA. (from RefSeq NR_027668) D3DSY6 ENST00000240159.1 ENST00000240159.2 ENST00000240159.3 ENST00000240159.4 ENST00000240159.5 ENST00000240159.6 ENST00000240159.7 NR_027668 Q7Z483 Q86YC0 Q8IXR7 Q8N2B5 Q8N5G9 Q8NG30 Q96K19 Q9H0V6 RN170_HUMAN uc064mnd.1 This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]. E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved in ITPR1 turnover in resting cells. Protein modification; protein ubiquitination. Constitutively associated with the ERLIN1/ERLIN 2 complex. Interacts with activated ITPR1. Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q96K19-1; Sequence=Displayed; Name=2; IsoId=Q96K19-2; Sequence=VSP_023856; Note=No experimental confirmation available; Name=3; IsoId=Q96K19-3; Sequence=VSP_023855, VSP_023857; Note=No experimental confirmation available; Name=4; IsoId=Q96K19-4; Sequence=VSP_023851, VSP_023852; Note=No experimental confirmation available; Name=5; IsoId=Q96K19-5; Sequence=VSP_023853, VSP_023854; Note=No experimental confirmation available; Expressed in the spinal chord. Defects in RNF170 are the cause of ataxia, sensory, type 1, autosomal dominant (SNAX1) [MIM:608984]. A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). Contains 1 RING-type zinc finger. Sequence=AAH39461.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH44566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; protein binding endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity  uc064mnd.1 
ENST00000240185.8 TARDBP ENST00000240185.8 Homo sapiens TAR DNA binding protein (TARDBP), mRNA. (from RefSeq NM_007375) A4GUK4 A4GUK5 A4GUK6 B2R629 E2PU12 ENST00000240185.1 ENST00000240185.2 ENST00000240185.3 ENST00000240185.4 ENST00000240185.5 ENST00000240185.6 ENST00000240185.7 NM_007375 Q13148 Q53H27 Q6FI92 Q96DJ0 TADBP_HUMAN TDP43 uc001art.1 uc001art.2 uc001art.3 uc001art.4 uc001art.5 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC095435.1, AL050265.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240185.8/ ENSP00000240185.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3' UTR. Homodimer. Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent. O43187:IRAK2; NbExp=2; IntAct=EBI-372899, EBI-447733; Nucleus. Note=In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q13148-1; Sequence=Displayed; Name=2; IsoId=Q13148-2; Sequence=VSP_039991; Name=3; IsoId=Q13148-3; Sequence=VSP_039989, VSP_039990, VSP_039991; Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen. The RRM domains can bind to both DNA and RNA (By similarity). Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU. Defects in TARDBP are the cause of amyotrophic lateral sclerosis type 10 (ALS10) [MIM:612069]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of ALS is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Contains 2 RRM (RNA recognition motif) domains. RNA polymerase II distal enhancer sequence-specific DNA binding negative regulation of protein phosphorylation nucleic acid binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding RNA binding mRNA 3'-UTR binding protein binding nucleus nucleoplasm perichromatin fibrils cytoplasm regulation of transcription, DNA-templated transcription from RNA polymerase II promoter mRNA processing RNA splicing gene expression cytoplasmic stress granule negative regulation of gene expression nuclear speck regulation of protein stability positive regulation of insulin secretion response to endoplasmic reticulum stress interchromatin granule positive regulation of protein import into nucleus regulation of circadian rhythm identical protein binding regulation of apoptotic process sequence-specific DNA binding negative regulation by host of viral transcription rhythmic process regulation of cell cycle 3'-UTR-mediated mRNA stabilization nuclear inner membrane organization pre-mRNA intronic binding sequence-specific double-stranded DNA binding ribonucleoprotein complex  uc001art.1 uc001art.2 uc001art.3 uc001art.4 uc001art.5 
ENST00000240189.2 PRAMEF2 ENST00000240189.2 Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. (from RefSeq NM_023014) ENST00000240189.1 NM_023014 O60811 PRAM2_HUMAN uc001aum.1 Belongs to the PRAME family. Contains 2 LRR (leucine-rich) repeats. cytoplasm positive regulation of cell proliferation negative regulation of apoptotic process negative regulation of cell differentiation negative regulation of transcription, DNA-templated  uc001aum.1 
ENST00000240285.10 RDH10 ENST00000240285.10 Homo sapiens retinol dehydrogenase 10 (RDH10), mRNA. (from RefSeq NM_172037) ENST00000240285.1 ENST00000240285.2 ENST00000240285.3 ENST00000240285.4 ENST00000240285.5 ENST00000240285.6 ENST00000240285.7 ENST00000240285.8 ENST00000240285.9 NM_172037 Q8IZV5 RDH10_HUMAN UNQ9375/PRO34191 uc003xzi.1 uc003xzi.2 uc003xzi.3 uc003xzi.4 uc003xzi.5 This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC067131.1, SRR1660805.173060.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240285.10/ ENSP00000240285.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinol to all-trans-retinal. Has no detectable activity towards 11-cis-retinol, 9-cis-retinol and 13-cis-retinol. All-trans-retinol + NADP(+) = all-trans- retinal + NADPH. Cofactor metabolism; retinol metabolism. Microsome membrane; Single-pass membrane protein (Potential). Endoplasmic reticulum membrane; Single-pass membrane protein (Potential). Detected in retina, kidney, liver, small intestine, placenta, lung, heart and skeletal muscle. Belongs to the short-chain dehydrogenases/reductases (SDR) family. retinoid metabolic process metanephros development in utero embryonic development retinoic acid biosynthetic process retinol dehydrogenase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane lipid particle visual perception gonad development animal organ morphogenesis neural crest cell development membrane integral component of membrane oxidoreductase activity embryonic camera-type eye development organelle membrane embryonic forelimb morphogenesis retinol metabolic process retinal metabolic process intracellular membrane-bounded organelle ear development nose development embryonic organ development embryonic viscerocranium morphogenesis NADP-retinol dehydrogenase activity oxidation-reduction process primary lung bud formation bud elongation involved in lung branching positive regulation of retinoic acid biosynthetic process nucleus  uc003xzi.1 uc003xzi.2 uc003xzi.3 uc003xzi.4 uc003xzi.5 
ENST00000240304.5 LUC7L3 ENST00000240304.5 Homo sapiens LUC7 like 3 pre-mRNA splicing factor (LUC7L3), transcript variant 2, mRNA. (from RefSeq NM_006107) B3KN54 CREAP1 CROP D3DTY1 ENST00000240304.1 ENST00000240304.2 ENST00000240304.3 ENST00000240304.4 LC7L3_HUMAN NM_006107 O48 O95232 Q6PHR9 Q9NUY0 Q9P2S7 uc002isr.1 uc002isr.2 uc002isr.3 uc002isr.4 This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]. Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing. May interact with SFRS1 and form homodimers. Interacts with JMJD6 and RBM25. Interacts with RSRC1 (via Arg/Ser-rich domain). Q15287:RNPS1; NbExp=1; IntAct=EBI-395671, EBI-395959; Nucleus speckle. Note=The subnuclear localization is affected by cisplatin. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95232-1; Sequence=Displayed; Name=2; IsoId=O95232-2; Sequence=VSP_018136, VSP_018137; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; Widely expressed. Highest levels in heart, brain, pancreas, thymus, ovary, small intestine and peripheral blood leukocytes, as well as cerebellum, putamen and pituitary gland. Lowest levels in lung, liver and kidney. Also expressed in fetal tissues, including brain, heart, kidney, thymus and lung. Phosphorylated in vitro by SRPK1, SRPK2 and CLK1. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the Luc7 family. Sequence=AAC79807.1; Type=Erroneous translation; Note=Erroneous CDS prediction; DNA binding RNA binding mRNA binding protein binding nucleus nucleoplasm U1 snRNP mRNA splice site selection mRNA processing RNA splicing nuclear speck U2-type prespliceosome  uc002isr.1 uc002isr.2 uc002isr.3 uc002isr.4 
ENST00000240306.5 DLX4 ENST00000240306.5 Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA. (from RefSeq NM_138281) BP1 D3DTX2 D3DTX3 DLX4_HUMAN DLX7 DLX8 DLX9 ENST00000240306.1 ENST00000240306.2 ENST00000240306.3 ENST00000240306.4 NM_138281 O60480 Q13265 Q6PJK0 Q92988 Q9HBE0 uc002ipv.1 uc002ipv.2 uc002ipv.3 uc002ipv.4 uc002ipv.5 Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]. May play a role in determining the production of hemoglobin S. May act as a repressor. P16333:NCK1; NbExp=3; IntAct=EBI-1752755, EBI-389883; Q13485:SMAD4; NbExp=5; IntAct=EBI-1752755, EBI-347263; P08047:SP1; NbExp=4; IntAct=EBI-1752755, EBI-298336; Nucleus (Potential). Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist. PubMed:9073066 (AAC51171) sequence may be an additional isoform; Name=1; IsoId=Q92988-1; Sequence=Displayed; Name=2; IsoId=Q92988-2; Sequence=VSP_002236; Note=Ref.1 (AAC50942) sequence is in conflict in positions: 8:P->H, 15:Y->N; Name=3; IsoId=Q92988-3; Sequence=VSP_002236, VSP_017043; Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver. Belongs to the distal-less homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter  uc002ipv.1 uc002ipv.2 uc002ipv.3 uc002ipv.4 uc002ipv.5 
ENST00000240316.5 COIL ENST00000240316.5 Homo sapiens coilin (COIL), mRNA. (from RefSeq NM_004645) B2R931 CLN80 COIL_HUMAN ENST00000240316.1 ENST00000240316.2 ENST00000240316.3 ENST00000240316.4 NM_004645 P38432 uc002iuu.1 uc002iuu.2 uc002iuu.3 uc002iuu.4 uc002iuu.5 The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.621235.1, BC010385.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240316.5/ ENSP00000240316.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Is a component of the nuclear coiled bodies (CBS) which are involved in the function or assembly/disassembly of nucleoplasmic snRNPs. During mitosis, CBS disassemble, coinciding with a mitotic-specific phosphorylation of p80 coilin. Interacts with ANKS1B. Self; NbExp=3; IntAct=EBI-945751, EBI-945751; P54253:ATXN1; NbExp=3; IntAct=EBI-945751, EBI-930964; P54253-1:ATXN1; NbExp=6; IntAct=EBI-945751, EBI-930975; Q8NHQ1:CEP70; NbExp=3; IntAct=EBI-945751, EBI-739624; Q8TBB1:LNX1; NbExp=2; IntAct=EBI-945751, EBI-739832; Q9NRD5:PICK1; NbExp=3; IntAct=EBI-945751, EBI-79165; P61289:PSME3; NbExp=3; IntAct=EBI-945751, EBI-355546; Q9Y3D8:TAF9; NbExp=5; IntAct=EBI-945751, EBI-2896123; Q99986:VRK1; NbExp=9; IntAct=EBI-945751, EBI-1769146; Nucleus. Note=Nuclear coiled body located in the interchromatin space between the nucleolus and the nucleus. Found in all the cell types examined. The atypical Tudor domain at the C-terminus contains two large unstructured loops, and doesn't bind methylated residues. Symmetrical dimethylation of arginine residues within the RG repeat region modulates affinity for SMN, and thus, localization of SMN complexes to the nuclear coiled bodies. Belongs to the coilin family. Contains 1 Tudor domain. spliceosomal snRNP assembly fibrillar center protein binding nucleus nucleoplasm nucleolus protein C-terminus binding Cajal body membrane nuclear body U1 snRNA binding U2 snRNA binding identical protein binding  uc002iuu.1 uc002iuu.2 uc002iuu.3 uc002iuu.4 uc002iuu.5 
ENST00000240328.4 TBX2 ENST00000240328.4 Homo sapiens T-box transcription factor 2 (TBX2), mRNA. (from RefSeq NM_005994) ENST00000240328.1 ENST00000240328.2 ENST00000240328.3 NM_005994 Q13207 Q16424 Q7Z647 TBX2_HUMAN uc010wox.1 uc010wox.2 uc010wox.3 uc010wox.4 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052566.1, AL832900.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240328.4/ ENSP00000240328.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Nucleus (Potential). Expressed primarily in adult in kidney, lung, and placenta. Weak expression in heart and ovary. Contains 1 T-box DNA-binding domain. Sequence=AAA73861.1; Type=Frameshift; Positions=4; Sequence=AAH52566.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TBX2ID42485ch17q23.html"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification heart looping heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis endocardial cushion morphogenesis cardiac chamber development regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated Notch signaling pathway multicellular organism development central nervous system development muscle cell fate determination cell aging regulation of heart contraction positive regulation of cell proliferation embryonic heart tube development aorta morphogenesis atrioventricular canal development embryonic digit morphogenesis sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic camera-type eye morphogenesis cardiac muscle tissue development palate development positive regulation of cardiac muscle cell proliferation pharynx development developmental growth involved in morphogenesis mammary placode formation cellular senescence negative regulation of heart looping negative regulation of cardiac chamber formation  uc010wox.1 uc010wox.2 uc010wox.3 uc010wox.4 
ENST00000240333.12 SLC35B1 ENST00000240333.12 Homo sapiens solute carrier family 35 member B1 (SLC35B1), transcript variant 1, mRNA. (from RefSeq NM_005827) ENST00000240333.1 ENST00000240333.10 ENST00000240333.11 ENST00000240333.2 ENST00000240333.3 ENST00000240333.4 ENST00000240333.5 ENST00000240333.6 ENST00000240333.7 ENST00000240333.8 ENST00000240333.9 NM_005827 P78383 Q96EW7 S35B1_HUMAN UGTREL1 uc285oet.1 uc285oet.2 This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Probable sugar transporter (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins (By similarity). Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; UDP-galactose transmembrane transporter activity UDP-glucose transmembrane transporter activity endoplasmic reticulum endoplasmic reticulum membrane carbohydrate transport UDP-glucose transport membrane integral component of membrane transmembrane transporter activity integral component of Golgi membrane integral component of endoplasmic reticulum membrane intracellular membrane-bounded organelle transmembrane transport UDP-galactose transmembrane transport  uc285oet.1 uc285oet.2 
ENST00000240335.1 TBX4 ENST00000240335.1 Homo sapiens T-box transcription factor 4 (TBX4), transcript variant 2, mRNA. (from RefSeq NM_018488) B2RMT1 NM_018488 P57082 TBX4_HUMAN uc002izi.1 uc002izi.2 uc002izi.3 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF188703.1, BC136403.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142363, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Nucleus (Potential). Defects in TBX4 are the cause of small patella syndrome (SPS) [MIM:147891]; also known as ischiopatellar dysplasia or Scott-Taor syndrome. SPS is an autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. Contains 1 T-box DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TBX4"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis cell fate specification morphogenesis of an epithelium DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development lung development embryonic limb morphogenesis limb morphogenesis positive regulation of transcription from RNA polymerase II promoter skeletal system morphogenesis  uc002izi.1 uc002izi.2 uc002izi.3 
ENST00000240361.12 TEX14 ENST00000240361.12 Homo sapiens testis expressed 14, intercellular bridge forming factor (TEX14), transcript variant 3, mRNA. (from RefSeq NM_001201457) A6NH19 ENST00000240361.1 ENST00000240361.10 ENST00000240361.11 ENST00000240361.2 ENST00000240361.3 ENST00000240361.4 ENST00000240361.5 ENST00000240361.6 ENST00000240361.7 ENST00000240361.8 ENST00000240361.9 NM_001201457 Q7RTP3 Q8IWB6 Q8ND97 Q9BXT9 SGK307 TEX14_HUMAN uc010dcz.1 uc010dcz.2 uc010dcz.3 The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]. Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodies into intercellular bridges. Also plays a role during mitosis: recruited to kinetochores by PLK1 during early mitosis and regulates the maturation of the outer kinetochores and microtubule attachment. Has no protein kinase activity in vitro (By similarity). Interacts with KIF23 and RBM44. Interacts with CEP55; inhibiting interaction between CEP55 and PDCD6IP/ALIX and TSG101 (By similarity). Cytoplasm (By similarity). Midbody (By similarity). Chromosome, centromere, kinetochore (By similarity). Note=Detected in the intercellular bridges that connect male germ cell daughter cells after cell division (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8IWB6-1; Sequence=Displayed; Name=2; IsoId=Q8IWB6-2; Sequence=VSP_019868; Name=3; IsoId=Q8IWB6-3; Sequence=VSP_019868, VSP_019869; Detected in testis. The protein kinase domain is predicted to be catalytically inactive. The GPPX3Y motif mediates interaction with CEP55. Phosphorylated on Thr residues by CDK1 during early phases of mitosis, promoting the interaction with PLK1 and recruitment to kinetochores. Phosphorylated on Ser-437 by PLK1 during late prometaphase promotes the rapid depletion from kinetochores and its subsequent degradation by the APC/C complex. Belongs to the protein kinase superfamily. Contains 3 ANK repeats. Contains 1 protein kinase domain. In contrast to protein kinases, Ser-376 is present instead of the conserved Asp which is expected to be an active site residue. Sequence=AAK31980.1; Type=Erroneous initiation; nucleotide binding chromosome, centromeric region kinetochore condensed chromosome kinetochore protein kinase activity protein binding ATP binding cell chromosome cytoplasm protein phosphorylation cell cycle mitotic spindle assembly checkpoint male meiosis attachment of spindle microtubules to kinetochore protein kinase binding midbody negative regulation of protein binding negative regulation of cytokinesis intercellular bridge organization intercellular bridge cell division mitotic sister chromatid separation extracellular exosome cellular response to leukemia inhibitory factor  uc010dcz.1 uc010dcz.2 uc010dcz.3 
ENST00000240364.7 FAM117A ENST00000240364.7 Homo sapiens family with sequence similarity 117 member A (FAM117A), mRNA. (from RefSeq NM_030802) ENST00000240364.1 ENST00000240364.2 ENST00000240364.3 ENST00000240364.4 ENST00000240364.5 ENST00000240364.6 F117A_HUMAN NM_030802 Q9C073 uc002ipk.1 uc002ipk.2 uc002ipk.3 uc002ipk.4 uc002ipk.5 Belongs to the FAM117 family.  uc002ipk.1 uc002ipk.2 uc002ipk.3 uc002ipk.4 uc002ipk.5 
ENST00000240423.9 NCAPH ENST00000240423.9 Homo sapiens non-SMC condensin I complex subunit H (NCAPH), transcript variant 1, mRNA. (from RefSeq NM_015341) BRRN BRRN1 CAPH CND2_HUMAN ENST00000240423.1 ENST00000240423.2 ENST00000240423.3 ENST00000240423.4 ENST00000240423.5 ENST00000240423.6 ENST00000240423.7 ENST00000240423.8 KIAA0074 NM_015341 Q15003 Q8TB87 uc002svz.1 uc002svz.2 uc002svz.3 uc002svz.4 This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]. Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: NCAPH/BRRN1, NCAPD2/CAPD2 and NCAPG. O00571:DDX3X; NbExp=2; IntAct=EBI-1046410, EBI-353779; Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase. Widely expressed at low level. Expressed in proliferating cells. Phosphorylated by CDK1. Its phosphorylation, as well as that of NCAPD2 and NCAPG subunits, activates the condensin complex and is required for chromosome condensation (By similarity). Belongs to the CND2 (condensin subunit 2) family. Sequence=BAA07556.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; condensin complex nuclear condensin complex chromatin binding protein binding nucleus chromosome cytoplasm cytosol cell cycle mitotic chromosome condensation female meiotic division meiotic chromosome condensation membrane chromosome condensation DNA topoisomerase binding meiotic chromosome segregation cell division female meiosis chromosome separation DNA topoisomerase (ATP-hydrolyzing) activator activity positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity  uc002svz.1 uc002svz.2 uc002svz.3 uc002svz.4 
ENST00000240487.5 TMEM131L ENST00000240487.5 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H0Y2M0) BC044932 ENST00000240487.1 ENST00000240487.2 ENST00000240487.3 ENST00000240487.4 H0Y2M0 H0Y2M0_HUMAN KIAA0922 uc063aib.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063aib.1 
ENST00000240488.8 MND1 ENST00000240488.8 Homo sapiens meiotic nuclear divisions 1 (MND1), transcript variant 1, mRNA. (from RefSeq NM_032117) B2R5F9 ENST00000240488.1 ENST00000240488.2 ENST00000240488.3 ENST00000240488.4 ENST00000240488.5 ENST00000240488.6 ENST00000240488.7 GAJ MND1_HUMAN NM_032117 Q9BWT6 uc003ink.1 uc003ink.2 uc003ink.3 uc003ink.4 The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]. Required for proper homologous chromosome pairing and efficient cross-over and intragenic recombination during meiosis (By similarity). Stimulates both DMC1- and RAD51-mediated homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. Heterodimer with PSMC3IP/HOP2. MND1-PSMC3IP interacts with DMC1 and RAD51 and binds preferentially to dsDNA. Nucleus (Probable). Belongs to the MND1 family. DNA binding double-stranded DNA binding nucleus DNA recombination reciprocal meiotic recombination meiotic cell cycle  uc003ink.1 uc003ink.2 uc003ink.3 uc003ink.4 
ENST00000240499.8 ZNF141 ENST00000240499.8 Homo sapiens zinc finger protein 141 (ZNF141), transcript variant 1, mRNA. (from RefSeq NM_003441) D4S90 ENST00000240499.1 ENST00000240499.2 ENST00000240499.3 ENST00000240499.4 ENST00000240499.5 ENST00000240499.6 ENST00000240499.7 NM_003441 Q15928 Q6DK07 ZN141_HUMAN uc003gaa.1 uc003gaa.2 uc003gaa.3 uc003gaa.4 The protein encoded by this gene is a zinc finger protein that may be a tumor suppressor. Defects in this gene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]. May be involved in transcriptional regulation as a repressor. Candidate gene for Wolf-Hirschhorn (4p-) syndrome (WHS). Nucleus (Potential). Ubiquitously low expression. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 11 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development anatomical structure morphogenesis limb morphogenesis metal ion binding  uc003gaa.1 uc003gaa.2 uc003gaa.3 uc003gaa.4 
ENST00000240587.5 TSHZ3 ENST00000240587.5 Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), transcript variant 1, mRNA. (from RefSeq NM_020856) ENST00000240587.1 ENST00000240587.2 ENST00000240587.3 ENST00000240587.4 KIAA1474 NM_020856 Q63HK5 Q9H0G6 Q9P254 TSH3 TSH3_HUMAN ZNF537 uc002nsy.1 uc002nsy.2 uc002nsy.3 uc002nsy.4 uc002nsy.5 uc002nsy.6 This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]. Transcriptional regulator involved in developmental processes. Function in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up- regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter. Interacts (via homeobox domain) with APBB1 (via PID domain 1). Interacts (via N-terminus) with HDAC1 and HDAC2; the interaction is direct. Found in a trimeric complex with APBB1 and HDAC1; the interaction between HDAC1 and APBB1 is mediated by TSHZ3. Nucleus. Cell projection, growth cone (By similarity). Note=Colocalizes with APBB1 in axonal growth cone (By similarity). Colocalizes with APBB1 in the nucleus. Expressed in brain; strongly reduced in post- mortem elderly subjects with Alzheimer disease. Expressed in peri-urothelial cells of the proximal ureter and renal pelvis at 9 weeks of gestation. Belongs to the teashirt C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 homeobox DNA-binding domain. Sequence=CAB66739.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=Protein Spotlight; Note=Life's first breath - Issue 122 of October 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt122.shtml"; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding regulation of respiratory gaseous exchange by neurological system process nucleic acid binding DNA binding chromatin binding protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter multicellular organism development regulation of gene expression growth cone cell projection negative regulation of transcription, DNA-templated metal ion binding positive regulation of synaptic transmission, glutamatergic long-term synaptic potentiation  uc002nsy.1 uc002nsy.2 uc002nsy.3 uc002nsy.4 uc002nsy.5 uc002nsy.6 
ENST00000240615.3 TAS2R8 ENST00000240615.3 Homo sapiens taste 2 receptor member 8 (TAS2R8), mRNA. (from RefSeq NM_023918) ENST00000240615.1 ENST00000240615.2 NM_023918 Q4KN29 Q645Y2 Q9NYW2 TA2R8_HUMAN uc010shh.1 uc010shh.2 uc010shh.3 uc010shh.4 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC096735.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Most taste cells may be activated by a limited number of bitter compounds; individual taste cells can discriminate among bitter stimuli. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc010shh.1 uc010shh.2 uc010shh.3 uc010shh.4 
ENST00000240617.10 PLBD1 ENST00000240617.10 Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA. (from RefSeq NM_024829) A8K4E9 ENST00000240617.1 ENST00000240617.2 ENST00000240617.3 ENST00000240617.4 ENST00000240617.5 ENST00000240617.6 ENST00000240617.7 ENST00000240617.8 ENST00000240617.9 NM_024829 PLBL1_HUMAN Q6P4A8 Q9BVV3 Q9H625 uc001rcc.1 uc001rcc.2 uc001rcc.3 Phospholipase acting on various phospholipids including phosphatidylcholine, phosphatidylinositol, phosphatidylethanolamine and lysophospholipids. May have a role in the defense against invading microorganisms and in the generation of lipid mediators of inflammation. pH dependence: Optimum pH is 7.4; May exist as a non-covalently associated tetramer of two 22 kDa and two 42 kDa chains. Cytoplasmic granule. Secreted. Expressed in neutrophils and monocytes. Proteolytic processing leading to a 22 kDa N-terminal and a 42 kDa C-terminal fragment appears necessary for activity, which seems to derive from the 42 kDa chain. Belongs to the phospholipase B-like family. Sequence=AAH00909.2; Type=Erroneous initiation; Sequence=BAB15442.1; Type=Erroneous initiation; phospholipase activity extracellular space lysosome cytosol lipid metabolic process phospholipid metabolic process lipid catabolic process hydrolase activity phosphatidylinositol acyl-chain remodeling phosphatidylcholine acyl-chain remodeling phosphatidylethanolamine acyl-chain remodeling  uc001rcc.1 uc001rcc.2 uc001rcc.3 
ENST00000240618.11 KLRK1 ENST00000240618.11 Homo sapiens killer cell lectin like receptor K1 (KLRK1), mRNA. (from RefSeq NM_007360) A8K7K5 A8K7P4 D12S2489E ENST00000240618.1 ENST00000240618.10 ENST00000240618.2 ENST00000240618.3 ENST00000240618.4 ENST00000240618.5 ENST00000240618.6 ENST00000240618.7 ENST00000240618.8 ENST00000240618.9 NKG2D NKG2D_HUMAN NM_007360 P26718 Q9NR41 uc009zhj.1 uc009zhj.2 uc009zhj.3 uc009zhj.4 uc009zhj.5 Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039836.1, AK292059.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240618.11/ ENSP00000240618.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for MICA, MICB, ULBP1, ULBP2, ULBP3 (ULBP2>ULBP1>ULBP3) and ULBP4. Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells. Involved in the immune surveillance exerted by T- and B-lymphocytes. Homodimer. Interacts with DAP10. The interaction with DAP10 is required for NKG2D cell surface expression. Membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms are produced; Name=1; IsoId=P26718-1; Sequence=Displayed; Natural killer cells. Expressed on essentially all CD56+CD3- NK cells from freshly isolated PBMC. Also detected in gamma-delta cells and CD8+ alpha-beta T-cells. Expressed in interferon-producing killer dendritic cells (IKDCs). Structurally distinct families of ligands for mouse and human NKG2D receptors have been characterized. They might be orthologs. Contains 1 C-type lectin domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/KLRK1ID41094ch12p13.html"; Name=Functional Glycomics Gateway - Glycan Binding; Note=NKG-2D; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_246"; stimulatory C-type lectin receptor signaling pathway adaptive immune response immune system process protein binding plasma membrane integral component of plasma membrane signal transduction external side of plasma membrane cell surface membrane integral component of membrane natural killer cell activation cell differentiation carbohydrate binding T cell costimulation MHC class Ib receptor activity positive regulation of interferon-gamma production negative regulation of GTPase activity signaling receptor activity natural killer cell mediated cytotoxicity MHC class I protein binding protein homodimerization activity innate immune response positive regulation of nitric oxide biosynthetic process positive regulation of natural killer cell mediated cytotoxicity regulation of immune response defense response to Gram-positive bacterium cellular response to lipopolysaccharide negative regulation of natural killer cell chemotaxis  uc009zhj.1 uc009zhj.2 uc009zhj.3 uc009zhj.4 uc009zhj.5 
ENST00000240619.3 TAS2R10 ENST00000240619.3 Homo sapiens taste 2 receptor member 10 (TAS2R10), mRNA. (from RefSeq NM_023921) ENST00000240619.1 ENST00000240619.2 NM_023921 Q3MIM9 Q6NTD9 Q9NYW0 T2R10_HUMAN uc001qyy.1 uc001qyy.2 uc001qyy.3 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC069089.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled strychnine receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium- regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc001qyy.1 uc001qyy.2 uc001qyy.3 
ENST00000240636.10 PRB1 ENST00000240636.10 Homo sapiens proline rich protein BstNI subfamily 1 (PRB1), transcript variant 1, non-coding, non-coding RNA. (from RefSeq NR_160307) A0A0D9SET1 ENST00000240636.1 ENST00000240636.2 ENST00000240636.3 ENST00000240636.4 ENST00000240636.5 ENST00000240636.6 ENST00000240636.7 ENST00000240636.8 ENST00000240636.9 NR_160307 uc058lgx.1 This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the 'Medium' allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015].  uc058lgx.1 
ENST00000240651.14 PYROXD1 ENST00000240651.14 Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), transcript variant 1, mRNA. (from RefSeq NM_024854) A6NKI6 ENST00000240651.1 ENST00000240651.10 ENST00000240651.11 ENST00000240651.12 ENST00000240651.13 ENST00000240651.2 ENST00000240651.3 ENST00000240651.4 ENST00000240651.5 ENST00000240651.6 ENST00000240651.7 ENST00000240651.8 ENST00000240651.9 NM_024854 PYRD1_HUMAN Q8WU10 Q9H6P1 uc001rew.1 uc001rew.2 uc001rew.3 uc001rew.4 uc001rew.5 This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]. Binds 1 FAD per subunit (By similarity). Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. PYROXD1 subfamily. Sequence=BAB15214.1; Type=Frameshift; Positions=445; protein binding nucleus cytoplasm oxidoreductase activity sarcomere cellular response to oxidative stress oxidation-reduction process  uc001rew.1 uc001rew.2 uc001rew.3 uc001rew.4 uc001rew.5 
ENST00000240652.8 IAPP ENST00000240652.8 Homo sapiens islet amyloid polypeptide (IAPP), transcript variant 1, mRNA. (from RefSeq NM_000415) ENST00000240652.1 ENST00000240652.2 ENST00000240652.3 ENST00000240652.4 ENST00000240652.5 ENST00000240652.6 ENST00000240652.7 IAPP_HUMAN NM_000415 P10997 Q0ZD87 Q14598 uc001rev.1 uc001rev.2 uc001rev.3 uc001rev.4 uc001rev.5 This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]. Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism. Interacts with IDE and INS. Can form homodimers. Interaction with INS inhibits homodimerization and fibril formation. Secreted. The mature protein is largely unstructured in the absence of a cognate ligand, and has a strong tendency to form fibrillar aggregates. Homodimerization may be the first step of amyloid formation. Amyloid fibrils are degraded by IDE. Mass=3936; Method=MALDI; Range=34-70; Source=PubMed:17374526; IAPP is the peptide subunit of amyloid found in pancreatic islets of type 2 diabetic patients and in insulinomas. Belongs to the calcitonin family. Name=Wikipedia; Note=Amylin entry; URL="http://en.wikipedia.org/wiki/Amylin"; beta-amyloid binding receptor binding hormone activity protein binding extracellular region extracellular space apoptotic process signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration cell-cell signaling negative regulation of cell proliferation positive regulation of gene expression positive regulation of protein kinase A signaling negative regulation of mitochondrion organization positive regulation of cell death inclusion body sensory perception of pain negative regulation of protein complex assembly protein destabilization positive regulation of peptidyl-serine phosphorylation eating behavior identical protein binding neuronal cell body positive regulation of apoptotic process positive regulation of MAPK cascade cellular protein metabolic process negative regulation of cell differentiation negative regulation of bone resorption protein homooligomerization positive regulation of protein kinase B signaling positive regulation of ERK1 and ERK2 cascade amylin receptor signaling pathway positive regulation of calcium ion import across plasma membrane amyloid fibril formation regulation of protein kinase C activity  uc001rev.1 uc001rev.2 uc001rev.3 uc001rev.4 uc001rev.5 
ENST00000240662.3 KCNJ8 ENST00000240662.3 Homo sapiens potassium inwardly rectifying channel subfamily J member 8 (KCNJ8), mRNA. (from RefSeq NM_004982) ENST00000240662.1 ENST00000240662.2 IRK8_HUMAN NM_004982 O00657 Q15842 uc001rff.1 uc001rff.2 uc001rff.3 uc001rff.4 uc001rff.5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.245201.1, SRR1803611.65273.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240662.3/ ENSP00000240662.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## This potassium channel is controlled by G proteins. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium (By similarity). Membrane; Multi-pass membrane protein. Predominantly detected in fetal and adult heart. Note=Defects in KCNJ8 may be associated with susceptibility to J-wave syndromes, a group of heart disorders characterized by early repolarization events as indicated by abnormal J-wave manifestation on electrocardiogram (ECG). The J point denotes the junction of the QRS complex and the ST segment on the ECG, marking the end of depolarization and the beginning of repolarization. An abnormal J wave is a deflection with a dome or hump morphology immediately following the QRS complex of the surface ECG. Examples of J-wave disorders are arrhythmias associated with an early repolarization pattern in the inferior or mid to lateral precordial leads, Brugada syndrome, some cases of idiopathic ventricular fibrillation (VF) with an early repolarization pattern in the inferior, inferolateral or global leads, as well as arrhythmias associated with hypothermia. Defects in KCNJ8 may be a cause of susceptibility to sudden infant death syndrome (SIDS) [MIM:272120]. SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ8 subfamily. inward rectifier potassium channel activity voltage-gated ion channel activity plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex ATP-activated inward rectifier potassium channel activity membrane integral component of membrane regulation of ion transmembrane transport membrane repolarization during ventricular cardiac muscle cell action potential voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization potassium ion import across plasma membrane  uc001rff.1 uc001rff.2 uc001rff.3 uc001rff.4 uc001rff.5 
ENST00000240687.2 TAS2R7 ENST00000240687.2 Homo sapiens taste 2 receptor member 7 (TAS2R7), mRNA. (from RefSeq NM_023919) ENST00000240687.1 NM_023919 Q645Y1 Q9NYW3 TA2R7_HUMAN uc001qyv.1 uc001qyv.2 uc001qyv.3 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC093992.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240687.2/ ENSP00000240687.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc001qyv.1 uc001qyv.2 uc001qyv.3 
ENST00000240691.4 TAS2R9 ENST00000240691.4 Homo sapiens taste 2 receptor member 9 (TAS2R9), mRNA. (from RefSeq NM_023917) ENST00000240691.1 ENST00000240691.2 ENST00000240691.3 NM_023917 Q502V7 Q50KT0 Q50KT1 Q645W9 Q9NYW1 TA2R9_HUMAN uc001qyx.1 uc001qyx.2 uc001qyx.3 uc001qyx.4 uc001qyx.5 This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095519.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240691.4/ ENSP00000240691.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5 (By similarity). Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway biological_process taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc001qyx.1 uc001qyx.2 uc001qyx.3 uc001qyx.4 uc001qyx.5 
ENST00000240719.7 ZNF549 ENST00000240719.7 Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 2, mRNA. (from RefSeq NM_153263) B3KV91 ENST00000240719.1 ENST00000240719.2 ENST00000240719.3 ENST00000240719.4 ENST00000240719.5 ENST00000240719.6 NM_153263 O43336 Q6P9A3 Q8NAR4 ZN549_HUMAN uc002qpa.1 uc002qpa.2 uc002qpa.3 May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P9A3-1; Sequence=Displayed; Name=2; IsoId=Q6P9A3-2; Sequence=VSP_018379; Note=No experimental confirmation available; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 15 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAC24605.1; Type=Erroneous gene model prediction; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002qpa.1 uc002qpa.2 uc002qpa.3 
ENST00000240727.10 ZSCAN18 ENST00000240727.10 Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 3, mRNA. (from RefSeq NM_023926) B4DG23 ENST00000240727.1 ENST00000240727.2 ENST00000240727.3 ENST00000240727.4 ENST00000240727.5 ENST00000240727.6 ENST00000240727.7 ENST00000240727.8 ENST00000240727.9 NM_023926 Q8TBC5 Q9BRK7 Q9H9A0 ZNF447 ZSC18_HUMAN uc002qrh.1 uc002qrh.2 uc002qrh.3 May be involved in transcriptional regulation. Nucleus (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8TBC5-1; Sequence=Displayed; Name=2; IsoId=Q8TBC5-2; Sequence=VSP_019497; Note=No experimental confirmation available; Name=3; IsoId=Q8TBC5-3; Sequence=VSP_043272; Note=No experimental confirmation available; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 2 C2H2-type zinc fingers. Contains 1 SCAN box domain. nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002qrh.1 uc002qrh.2 uc002qrh.3 
ENST00000240731.5 ZNF211 ENST00000240731.5 Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. (from RefSeq NM_006385) B4DH10 B4DLC9 B4E3C9 B9ZVS7 ENST00000240731.1 ENST00000240731.2 ENST00000240731.3 ENST00000240731.4 NM_006385 Q05BQ7 Q13398 Q2TAL7 Q59EG4 Q59G36 Q5EBL6 ZN211_HUMAN uc002qpp.1 uc002qpp.2 uc002qpp.3 uc002qpp.4 This gene encodes a protein containing a Kruppel-associated box domain and multiple zinc finger domains. This protein may play a role in developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q13398-1; Sequence=Displayed; Name=2; IsoId=Q13398-2; Sequence=VSP_035702; Name=3; IsoId=Q13398-3; Sequence=VSP_035704; Name=4; IsoId=Q13398-4; Sequence=VSP_035705; Note=No experimental confirmation available; Name=5; IsoId=Q13398-5; Sequence=VSP_035703; Name=6; IsoId=Q13398-6; Sequence=VSP_035706; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 12 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAA93261.1; Type=Erroneous initiation; Sequence=AAH34351.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD93084.1; Type=Erroneous initiation; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002qpp.1 uc002qpp.2 uc002qpp.3 uc002qpp.4 
ENST00000240851.9 TFG ENST00000240851.9 Homo sapiens trafficking from ER to golgi regulator (TFG), transcript variant 1, mRNA. (from RefSeq NM_006070) D3DN49 ENST00000240851.1 ENST00000240851.2 ENST00000240851.3 ENST00000240851.4 ENST00000240851.5 ENST00000240851.6 ENST00000240851.7 ENST00000240851.8 NM_006070 Q15656 Q92734 Q969I2 TFG_HUMAN uc003due.1 uc003due.2 uc003due.3 uc003due.4 uc003due.5 There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]. O15162:PLSCR1; NbExp=2; IntAct=EBI-357061, EBI-740019; Ubiquitous. Defects in TFG are a cause of thyroid papillary carcinoma (TPC) [MIM:188550]. TPC is a common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=A chromosomal aberration involving TFG is found in thyroid papillary carcinomas. Translocation t(1;3)(q21;q11) with NTRK1. The TFG sequence is fused to the 3'-end of NTRK1 generating the TRKT3 (TRK-T3) fusion transcript. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TFGID281.html"; Golgi membrane protein binding cytoplasm endoplasmic reticulum cytosol ER to Golgi vesicle-mediated transport vesicle-mediated transport identical protein binding positive regulation of I-kappaB kinase/NF-kappaB signaling COPII vesicle coating endoplasmic reticulum exit site  uc003due.1 uc003due.2 uc003due.3 uc003due.4 uc003due.5 
ENST00000240874.7 KALRN ENST00000240874.7 Homo sapiens kalirin RhoGEF kinase (KALRN), transcript variant 2, mRNA. (from RefSeq NM_003947) A8MSI4 DUET DUO ENST00000240874.1 ENST00000240874.2 ENST00000240874.3 ENST00000240874.4 ENST00000240874.5 ENST00000240874.6 HAPIP KALRN_HUMAN NM_003947 O60229 Q6ZN45 Q8TBQ5 Q9NSZ4 Q9Y2A5 TRAD uc003ehf.1 uc003ehf.2 Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]. Promotes the exchange of GDP by GTP. Activates specific Rho GTPase family members, thereby inducing various signaling mechanisms that regulate neuronal shape, growth, and plasticity, through their effects on the actin cytoskeleton. Induces lamellipodia independent of its GEF activity. ATP + a protein = ADP + a phosphoprotein. Magnesium. Interacts with the C-terminal of peptidylglycine alpha- amidating monooxygenase (PAM) and with the huntingtin-associated protein 1 (HAP1) (By similarity). Interacts with FASLG. Cytoplasm. Cytoplasm, cytoskeleton. Note=Associated with the cytoskeleton. Event=Alternative splicing, Alternative initiation; Named isoforms=6; Name=1; IsoId=O60229-1; Sequence=Displayed; Note=Produced by alternative splicing; Name=2; IsoId=O60229-2; Sequence=VSP_028910, VSP_028911; Note=Produced by alternative splicing. No experimental confirmation available; Name=3; IsoId=O60229-3; Sequence=VSP_028905, VSP_028906, VSP_028907, VSP_028908; Note=Produced by alternative initiation at Met-624 of isoform 1. Inferred by similarity; Name=4; Synonyms=DUET, TRAD; IsoId=O60229-4; Sequence=VSP_028903, VSP_028912; Note=Produced by alternative splicing; Name=5; IsoId=O60229-5; Sequence=VSP_028904, VSP_028909, VSP_028913, VSP_028914, VSP_028915; Note=Produced by alternative splicing; Name=6; IsoId=O60229-6; Sequence=VSP_028903, VSP_028912, VSP_028913; Note=Produced by alternative splicing. No experimental confirmation available; Isoform 2 is brain specific. Highly expressed in cerebral cortex, putamen, amygdala, hippocampus and caudate nucleus. Weakly expressed in brain stem and cerebellum. Isoform 4 is expressed in skeletal muscle. The two GEF domains catalyze nucleotide exchange for RAC1 and RhoA which are bound by DH1 and DH2 respectively. The two GEF domains appear to play differing roles in neuronal development and axonal outgrowth. SH3 1 binds to the first GEF domain inhibiting GEF activity only when in the presence of a PXXP peptide, suggesting that the SH3 domain/peptide interaction mediates binding to GEF1. CRK1 SH3 domain binds to and inhibits GEF1 activity (By similarity). Autophosphorylated. Genetic variation in KALRN is associated with susceptibility to coronary heart disease type 5 (CHDS5) [MIM:608901]. CHD is the leading cause of death and disability worldwide. CHD is multifactorial disease with a strong genetic component. Classic epidemiologic studies have revealed many risk factors for CHD, including age, sex, hypertension, dyslipidemia, diabetes mellitus, smoking, and physical inactivity. Called DUO because the encoded protein is closely related to but shorter than TRIO. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Contains 1 CRAL-TRIO domain. Contains 2 DH (DBL-homology) domains. Contains 1 fibronectin type-III domain. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 2 PH domains. Contains 1 protein kinase domain. Contains 2 SH3 domains. Contains 5 spectrin repeats. Sequence=AAH58015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; nucleotide binding protein kinase activity protein serine/threonine kinase activity guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity protein binding ATP binding nucleoplasm cytoplasm cytosol cytoskeleton protein phosphorylation signal transduction G-protein coupled receptor signaling pathway nervous system development neuromuscular junction development lactation memory adult locomotory behavior actin cytoskeleton vesicle-mediated transport kinase activity phosphorylation transferase activity regulation of Rho protein signal transduction social behavior intracellular signal transduction maternal behavior positive regulation of apoptotic process positive regulation of GTPase activity metal ion binding habituation ephrin receptor signaling pathway regulation of small GTPase mediated signal transduction negative regulation of growth hormone secretion maternal process involved in parturition positive regulation of dendritic spine morphogenesis extracellular exosome  uc003ehf.1 uc003ehf.2 
ENST00000240922.8 NAA50 ENST00000240922.8 Homo sapiens N-alpha-acetyltransferase 50, NatE catalytic subunit (NAA50), transcript variant 1, mRNA. (from RefSeq NM_025146) D3DN74 ENST00000240922.1 ENST00000240922.2 ENST00000240922.3 ENST00000240922.4 ENST00000240922.5 ENST00000240922.6 ENST00000240922.7 MAK3 NAA50_HUMAN NAT13 NAT5 NM_025146 Q68DQ1 Q9GZZ1 uc003ean.1 uc003ean.2 uc003ean.3 uc003ean.4 Probable catalytic component of the NAA11-NAA15 complex which displays alpha (N-terminal) acetyltransferase activity. Interacts with NAA35 (By similarity). Interacts with NAA15 and NAA11. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GZZ1-1; Sequence=Displayed; Name=2; IsoId=Q9GZZ1-2; Sequence=VSP_024747; Note=No experimental confirmation available; Belongs to the acetyltransferase family. GNAT subfamily. Contains 1 N-acetyltransferase domain. peptide alpha-N-acetyltransferase activity protein binding nucleus cytoplasm cytosol N-terminal protein amino acid acetylation mitotic sister chromatid cohesion N-acetyltransferase activity H4 histone acetyltransferase activity histone acetylation transferase activity transferase activity, transferring acyl groups NatA complex establishment of mitotic sister chromatid cohesion histone H4 acetylation peptidyl-lysine acetyltransferase activity extracellular exosome mitotic sister chromatid cohesion, centromeric  uc003ean.1 uc003ean.2 uc003ean.3 uc003ean.4 
ENST00000241001.13 PAX6 ENST00000241001.13 Homo sapiens paired box 6 (PAX6), transcript variant 53, non-coding RNA. (from RefSeq NR_160917) ENST00000241001.1 ENST00000241001.10 ENST00000241001.11 ENST00000241001.12 ENST00000241001.2 ENST00000241001.3 ENST00000241001.4 ENST00000241001.5 ENST00000241001.6 ENST00000241001.7 ENST00000241001.8 ENST00000241001.9 NR_160917 Q66SS1 Q66SS1_HUMAN Z83307.1-002 uc285ixg.1 This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.706046.1 [ECO:0000332] ##Evidence-Data-END## Nucleus (By similarity). Contains 1 paired domain. DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding  uc285ixg.1 
ENST00000241014.6 MAPK8IP1 ENST00000241014.6 Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. (from RefSeq NM_005456) D3DQP4 ENST00000241014.1 ENST00000241014.2 ENST00000241014.3 ENST00000241014.4 ENST00000241014.5 IB1 JIP1 JIP1_HUMAN NM_005456 O43407 PRKM8IP Q9UQF2 uc001nbr.1 uc001nbr.2 uc001nbr.3 uc001nbr.4 This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC068470.1, AF074091.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241014.6/ ENSP00000241014.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK- regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response. Forms homo- or heterooligomeric complexes. Binds specific components of the JNK signaling pathway namely, MAPK8, MAPK9, MAPK10, MAPKK7, MLK2, MLK3, MAP3K12 and MAP3K13. Also binds the proline-rich domain-containing splice variant of apolipoprotein E receptor 2 (ApoER2). Interacts, via the PID domain, with ARHGEF28. Binds the cytoplasmic tails of LRP1 and LRP2 (Megalin). Binds the TPR motif-containing C-terminal of KNS2, then the pre-assembled MAPK8IP1 scaffolding complexes are transported as a cargo of kinesin, to the required subcellular location. Interacts with the cytoplasmic domain of APP. Interacts with DCLK2 (By similarity). Interacts with MAP3K7. Interacts with isoform 1 and isoform 2 of VRK2. P05067:APP; NbExp=4; IntAct=EBI-78404, EBI-77613; P12023:App (xeno); NbExp=2; IntAct=EBI-78404, EBI-78814; O43318:MAP3K7; NbExp=10; IntAct=EBI-78404, EBI-358684; Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Nucleus (By similarity). Endoplasmic reticulum membrane. Mitochondrion membrane. Note=Accumulates in cell surface projections. Under certain stress conditions, translocates to the perinuclear region of neurons. In insulin-secreting cells, detected in both the cytoplasm and nucleus (By similarity). Highly expressed in brain. Expressed in neurons, localizing to neurite tips in differentiating cells. Also expressed in the pancreas, testis and prostate. Low levels in heart, ovary and small intestine. Decreased levels in pancreatic beta cells sensitize cells to IL-1-beta-induced apoptosis. The destruction boxes (D-box) may act as recognition signals for degradation via the ubiquitin-proteasome pathway. A minimal inhibitory domain prevents pancreatic beta cell apoptosis in vitro, and prevents activation of c-jun by MAPK8, MAPK9 and MAPK10. The SH3 domain mediates homodimerization (By similarity). Phosphorylated by MAPK8, MAPK9 and MAPK10. Phosphorylation on Thr-103 is also necessary for the dissociation and activation of MAP3K12. Phosphorylated by isoform 1 and isoform 2 of VRK2. Ubiquitinated. Two preliminary events are required to prime for ubiquitination; phosphorylation and an increased in intracellular calcium concentration. Then, the calcium influx initiates ubiquitination and degradation by the ubiquitin- proteasome pathway. Defects in MAPK8IP1 are a cause of non-insulin-dependent diabetes mellitus (NIDDM) [MIM:125853]. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance. A chemically synthesized cell-permeable peptide of the minimal inhibitory domain decreases brain lesions in both transient and permanent ischemia. The level of protection is still high when administered 6 or 12 hours after ischemia. Belongs to the JIP scaffold family. Contains 1 PID domain. Contains 1 SH3 domain. protein kinase inhibitor activity MAP-kinase scaffold activity protein binding nucleus cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane regulation of transcription, DNA-templated receptor-mediated endocytosis signal transduction JUN phosphorylation JUN kinase binding membrane vesicle-mediated transport kinesin binding protein kinase binding axon dendrite mitogen-activated protein kinase kinase binding mitogen-activated protein kinase kinase kinase binding mitochondrial membrane neuron projection negative regulation of apoptotic process negative regulation of JUN kinase activity dendritic growth cone axonal growth cone cell body dentate gyrus mossy fiber synapse positive regulation of endocytosis regulation of JNK cascade negative regulation of JNK cascade positive regulation of JNK cascade perinuclear region of cytoplasm negative regulation of canonical Wnt signaling pathway regulation of CD8-positive, alpha-beta T cell proliferation negative regulation of intrinsic apoptotic signaling pathway  uc001nbr.1 uc001nbr.2 uc001nbr.3 uc001nbr.4 
ENST00000241041.7 PEX16 ENST00000241041.7 Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA. (from RefSeq NM_057174) ENST00000241041.1 ENST00000241041.2 ENST00000241041.3 ENST00000241041.4 ENST00000241041.5 ENST00000241041.6 NM_057174 PEX16_HUMAN Q9BWB9 Q9Y5Y5 uc001nbt.1 uc001nbt.2 uc001nbt.3 uc001nbt.4 The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]. Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. Interacts with PEX19. Peroxisome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5Y5-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Y5-2; Sequence=VSP_036593; Defects in PEX16 are the cause of peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:603360]; also known as PBD-CGD. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX16 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Belongs to the peroxin-16 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX16"; protein binding peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane protein targeting to peroxisome peroxisome organization protein C-terminus binding membrane integral component of membrane peroxisome membrane biogenesis protein import into peroxisome matrix protein to membrane docking ER-dependent peroxisome organization protein import into peroxisome membrane  uc001nbt.1 uc001nbt.2 uc001nbt.3 uc001nbt.4 
ENST00000241051.8 DEPDC7 ENST00000241051.8 Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA. (from RefSeq NM_001077242) DEPD7_HUMAN ENST00000241051.1 ENST00000241051.2 ENST00000241051.3 ENST00000241051.4 ENST00000241051.5 ENST00000241051.6 ENST00000241051.7 NM_001077242 Q8N602 Q8NCU9 Q96QD5 Q9UGK5 uc001mub.1 uc001mub.2 uc001mub.3 uc001mub.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96QD5-1; Sequence=Displayed; Name=2; IsoId=Q96QD5-2; Sequence=VSP_028811; Expressed in liver. Belongs to the DEPDC7 family. Contains 1 DEP domain. molecular_function cellular_component cytosol biological_process intracellular signal transduction regulation of small GTPase mediated signal transduction  uc001mub.1 uc001mub.2 uc001mub.3 uc001mub.4 
ENST00000241052.5 CAT ENST00000241052.5 Homo sapiens catalase (CAT), mRNA. (from RefSeq NM_001752) A8K6C0 B2RCZ9 CATA_HUMAN D3DR07 ENST00000241052.1 ENST00000241052.2 ENST00000241052.3 ENST00000241052.4 NM_001752 P04040 Q2M1U4 Q4VXX5 Q9BWT9 Q9UC85 uc001mvm.1 uc001mvm.2 uc001mvm.3 uc001mvm.4 uc001mvm.5 This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1080032.1, SRR3476690.186343.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241052.5/ ENSP00000241052.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells. 2 H(2)O(2) = O(2) + 2 H(2)O. Heme group. NADP. Homotetramer. Peroxisome. The N-terminus is blocked. Defects in CAT are the cause of acatalasemia (ACATLAS) [MIM:614097]. A metabolic disorder characterized by absence of catalase activity in red cells and is often associated with ulcerating oral lesions. Belongs to the catalase family. Name=Wikipedia; Note=Catalase entry; URL="http://en.wikipedia.org/wiki/Catalase"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cat/"; response to reactive oxygen species osteoblast differentiation ureteric bud development response to hypoxia kidney development aminoacylase activity catalase activity peroxidase activity receptor binding extracellular region extracellular space mitochondrial intermembrane space lysosome peroxisome peroxisomal membrane peroxisomal matrix endoplasmic reticulum Golgi apparatus cytosol plasma membrane focal adhesion protein targeting to peroxisome triglyceride metabolic process response to oxidative stress aging cholesterol metabolic process aerobic respiration response to radiation response to UV response to toxic substance response to light intensity UV protection response to ozone response to lead ion positive regulation of phosphatidylinositol 3-kinase signaling response to activity response to inactivity membrane antioxidant activity oxidoreductase activity oxidoreductase activity, acting on peroxide as acceptor enzyme binding hemoglobin metabolic process heme binding negative regulation of NF-kappaB transcription factor activity response to estradiol response to insulin response to vitamin A response to vitamin E response to L-ascorbic acid cellular response to oxidative stress secretory granule lumen response to drug response to hydrogen peroxide hydrogen peroxide catabolic process identical protein binding protein homodimerization activity negative regulation of apoptotic process intracellular membrane-bounded organelle neutrophil degranulation response to ethanol response to cadmium ion metal ion binding NADP binding positive regulation of NF-kappaB transcription factor activity protein tetramerization protein homotetramerization positive regulation of cell division response to hyperoxia oxidation-reduction process extracellular exosome response to fatty acid cellular response to growth factor stimulus response to phenylpropanoid cellular oxidant detoxification ficolin-1-rich granule lumen  uc001mvm.1 uc001mvm.2 uc001mvm.3 uc001mvm.4 uc001mvm.5 
ENST00000241069.11 ACHE ENST00000241069.11 Homo sapiens acetylcholinesterase (Cartwright blood group) (ACHE), transcript variant 11, non-coding RNA. (from RefSeq NR_160408) A4D2E2 ACES_HUMAN B7ZKZ0 D6W5X7 ENST00000241069.1 ENST00000241069.10 ENST00000241069.2 ENST00000241069.3 ENST00000241069.4 ENST00000241069.5 ENST00000241069.6 ENST00000241069.7 ENST00000241069.8 ENST00000241069.9 NR_160408 P22303 Q16169 Q29S23 Q2M324 Q504V3 Q53F46 Q86TM9 Q86YX9 Q9BXP7 uc003uxf.1 uc003uxf.2 uc003uxf.3 uc003uxf.4 uc003uxf.5 uc003uxf.6 uc003uxf.7 Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.17025.1 [ECO:0000332] ##Evidence-Data-END## Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. Acetylcholine + H(2)O = choline + acetate. Interacts with PRIMA1. The interaction with PRIMA1 is required to anchor it to the basal lamina of cells and organize into tetramers (By similarity). Isoform H generates GPI-anchored dimers; disulfide linked. Isoform T generates multiple structures, ranging from monomers and dimers to collagen-tailed and hydrophobic-tailed forms, in which catalytic tetramers are associated with anchoring proteins that attach them to the basal lamina or to cell membranes. In the collagen-tailed forms, isoform T subunits are associated with a specific collagen, COLQ, which triggers the formation of isoform T tetramers, from monomers and dimers. Isoform R may be monomeric. Q9Y215:COLQ; NbExp=2; IntAct=EBI-1637793, EBI-1637847; P06733:ENO1; NbExp=2; IntAct=EBI-1637793, EBI-353877; P63244:GNB2L1; NbExp=2; IntAct=EBI-1637793, EBI-296739; Cell junction, synapse. Secreted (By similarity). Cell membrane; Peripheral membrane protein (By similarity). Isoform T: Nucleus. Note=Only observed in apoptotic nuclei. Isoform H: Cell membrane; Lipid-anchor, GPI- anchor; Extracellular side (By similarity). Event=Alternative splicing; Named isoforms=4; Name=T; Synonyms=ACHE-S, synaptic; IsoId=P22303-1; Sequence=Displayed; Name=H; Synonyms=ACHE-E, erythrocytic, E4-E5; IsoId=P22303-2; Sequence=VSP_001457; Note=GPI-anchor amidated glycine on Gly-588. Ref.9 (AAI43470) sequence is in conflict in position: 592:P->R; Name=R; Synonyms=ACHE-R, readthrough; IsoId=P22303-4; Sequence=VSP_035569, VSP_035570; Name=4; IsoId=P22303-3; Sequence=VSP_035568; Note=No experimental confirmation available; Isoform H is highly expressed in erythrocytes. ACHE is responsible for the Yt blood group system [MIM:112100]. The molecular basis of the Yt(a)=Yt1/Yt(b)=Yt2 blood group antigens is a single variation in position 353; His-353 corresponds to Yt(a) and the rare variant with Asn-353 to Yt(b). Belongs to the type-B carboxylesterase/lipase family. Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=yt"; Name=Wikipedia; Note=Acetylcholinesterase entry; URL="http://en.wikipedia.org/wiki/Acetylcholinesterase"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ache/"; acetylcholine catabolic process in synaptic cleft beta-amyloid binding regulation of receptor recycling osteoblast development acetylcholinesterase activity cholinesterase activity protein binding collagen binding extracellular region basement membrane extracellular space nucleus Golgi apparatus plasma membrane acetylcholine catabolic process phosphatidylcholine biosynthetic process cell adhesion nervous system development synapse assembly muscle organ development cell proliferation response to wounding cell surface membrane hydrolase activity serine hydrolase activity cell junction anchored component of membrane neuromuscular junction receptor internalization negative regulation of synaptic transmission, cholinergic neurotransmitter catabolic process neurotransmitter biosynthetic process acetylcholine binding identical protein binding protein homodimerization activity amyloid precursor protein metabolic process synaptic cleft laminin binding protein self-association synapse neurotransmitter receptor biosynthetic process perinuclear region of cytoplasm positive regulation of protein secretion carboxylic ester hydrolase activity retina development in camera-type eye  uc003uxf.1 uc003uxf.2 uc003uxf.3 uc003uxf.4 uc003uxf.5 uc003uxf.6 uc003uxf.7 
ENST00000241071.11 FBXO24 ENST00000241071.11 Homo sapiens F-box protein 24 (FBXO24), transcript variant 1, mRNA. (from RefSeq NM_033506) A4D2D4 B4DX91 B4DY42 ENST00000241071.1 ENST00000241071.10 ENST00000241071.2 ENST00000241071.3 ENST00000241071.4 ENST00000241071.5 ENST00000241071.6 ENST00000241071.7 ENST00000241071.8 ENST00000241071.9 FBX24 FBX24_HUMAN NM_033506 O75426 Q9H0G1 uc003uvm.1 uc003uvm.2 uc003uvm.3 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Directly interacts with SKP1 and CUL1 (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O75426-1; Sequence=Displayed; Name=2; IsoId=O75426-2; Sequence=VSP_011351, VSP_011352, VSP_011353; Name=3; IsoId=O75426-3; Sequence=VSP_043459; Note=No experimental confirmation available; Name=4; IsoId=O75426-4; Sequence=VSP_043458; Note=No experimental confirmation available; Contains 1 F-box domain. Contains 1 RCC1 repeat. ubiquitin ligase complex ubiquitin-protein transferase activity protein binding protein ubiquitination  uc003uvm.1 uc003uvm.2 uc003uvm.3 
ENST00000241124.11 GJB6 ENST00000241124.11 Homo sapiens gap junction protein beta 6 (GJB6), transcript variant 3, mRNA. (from RefSeq NM_006783) B3KQN2 CXB6_HUMAN ENST00000241124.1 ENST00000241124.10 ENST00000241124.2 ENST00000241124.3 ENST00000241124.4 ENST00000241124.5 ENST00000241124.6 ENST00000241124.7 ENST00000241124.8 ENST00000241124.9 NM_006783 O95452 Q5Q1H9 Q5Q1I0 Q5Q1I1 Q5T5U0 Q8IUP0 uc001umz.1 uc001umz.2 uc001umz.3 uc001umz.4 uc001umz.5 uc001umz.6 Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]. One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. A connexon is composed of a hexamer of connexins. Interacts with CNST (By similarity). Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. Defects in GJB6 are the cause of ectodermal dysplasia type 2 (ED2) [MIM:129500]; also known as Clouston syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ED2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent features. Hearing impairment has been detected in few cases of ED2. Defects in GJB6 are the cause of deafness autosomal recessive type 1B (DFNB1B) [MIM:612645]. DFNB1B is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in GJB6 are the cause of deafness autosomal dominant type 3B (DFNA3B) [MIM:612643]. Belongs to the connexin family. Beta-type (group I) subfamily. Name=Connexin-deafness homepage; URL="http://davinci.crg.es/deafness/"; Name=Hereditary hearing loss homepage; Note=Gene page; URL="http://webhost.ua.ac.be/hhh/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJB6"; gap junction channel activity cytosol actin filament plasma membrane gap junction connexin complex apoptotic process cell communication aging sensory perception of sound microtubule binding negative regulation of cell proliferation cell communication by electrical coupling membrane integral component of membrane gap junction assembly apical plasma membrane cell junction response to lipopolysaccharide ear morphogenesis beta-tubulin binding inner ear development actin filament binding response to electrical stimulus transmembrane transport cellular response to glucose stimulus gap junction channel activity involved in cell communication by electrical coupling gap junction-mediated intercellular transport  uc001umz.1 uc001umz.2 uc001umz.3 uc001umz.4 uc001umz.5 uc001umz.6 
ENST00000241125.4 GJA3 ENST00000241125.4 Homo sapiens gap junction protein alpha 3 (GJA3), mRNA. (from RefSeq NM_021954) CXA3_HUMAN ENST00000241125.1 ENST00000241125.2 ENST00000241125.3 NM_021954 Q0VAB7 Q9H537 Q9Y6H8 uc001umx.1 uc001umx.2 uc001umx.3 The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DR003755.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241125.4/ ENSP00000241125.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber gap junctions, can form both junctional and non-junctional ("hemi-") channels. Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. Defects in GJA3 are the cause of cataract zonular pulverulent cataract type 3 (CZP3) [MIM:601885]. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. Defects in GJA3 are a cause of cataract autosomal dominant (ADC) [MIM:604219]. Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. Belongs to the connexin family. Alpha-type (group II) subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJA3"; gap junction channel activity plasma membrane integral component of plasma membrane gap junction connexin complex cell communication visual perception membrane integral component of membrane cell junction gap junction hemi-channel activity transmembrane transport gap junction-mediated intercellular transport  uc001umx.1 uc001umx.2 uc001umx.3 
ENST00000241256.3 GHSR ENST00000241256.3 Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. (from RefSeq NM_198407) ENST00000241256.1 ENST00000241256.2 GHSR_HUMAN NM_198407 Q14D12 Q6ISR8 Q92847 Q92848 Q96RJ7 uc003fib.1 uc003fib.2 uc003fib.3 uc003fib.4 This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]. Receptor for ghrelin, coupled to G-alpha-11 proteins. Stimulates growth hormone secretion. Binds also other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. L-692,429, MK-0677, adenosine). Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1A; IsoId=Q92847-1; Sequence=Displayed; Name=1B; IsoId=Q92847-2; Sequence=VSP_001916, VSP_001917; Pituitary and hypothalamus. Defects in GHSR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is defined by a subnormal rate of growth. Belongs to the G-protein coupled receptor 1 family. growth hormone secretagogue receptor activity G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway spermatogenesis female pregnancy learning or memory actin polymerization or depolymerization adult feeding behavior response to hormone hormone-mediated signaling pathway cell surface negative regulation of norepinephrine secretion membrane integral component of membrane growth hormone-releasing hormone receptor activity peptide hormone binding growth hormone secretion response to food negative regulation of appetite positive regulation of appetite response to follicle-stimulating hormone response to estradiol negative regulation of interleukin-1 beta production cellular response to insulin stimulus ghrelin secretion positive regulation of multicellular organism growth negative regulation of tumor necrosis factor biosynthetic process hormone binding neuron projection regulation of hindgut contraction positive regulation of insulin-like growth factor receptor signaling pathway membrane raft negative regulation of interleukin-6 biosynthetic process positive regulation of fatty acid metabolic process positive regulation of growth negative regulation of insulin secretion decidualization negative regulation of inflammatory response regulation of synapse assembly regulation of transmission of nerve impulse regulation of growth hormone secretion regulation of feeding behavior response to growth hormone cellular response to lipopolysaccharide response to dexamethasone negative regulation of locomotion involved in locomotory behavior cellular response to thyroid hormone stimulus postsynapse glutamatergic synapse positive regulation of sprouting angiogenesis positive regulation of eating behavior response to monosodium glutamate positive regulation of small intestine smooth muscle contraction negative regulation of tumor necrosis factor secretion regulation of gastric motility positive regulation of vascular endothelial cell proliferation cellular response to insulin-like growth factor stimulus negative regulation of macrophage apoptotic process  uc003fib.1 uc003fib.2 uc003fib.3 uc003fib.4 
ENST00000241261.7 TNFSF10 ENST00000241261.7 Homo sapiens TNF superfamily member 10 (TNFSF10), transcript variant 4, non-coding RNA. (from RefSeq NR_033994) ENST00000241261.1 ENST00000241261.2 ENST00000241261.3 ENST00000241261.4 ENST00000241261.5 ENST00000241261.6 NR_033994 Q6IBA9 Q6IBA9_HUMAN hCG_20249 uc003fid.1 uc003fid.2 uc003fid.3 uc003fid.4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. cytokine activity tumor necrosis factor receptor binding extracellular space immune response signal transduction male gonad development membrane integral component of membrane tumor necrosis factor receptor superfamily binding response to insulin positive regulation of apoptotic process TRAIL binding metal ion binding positive regulation of extrinsic apoptotic signaling pathway  uc003fid.1 uc003fid.2 uc003fid.3 uc003fid.4 
ENST00000241274.3 SLITRK3 ENST00000241274.3 Homo sapiens SLIT and NTRK like family member 3 (SLITRK3), transcript variant 2, mRNA. (from RefSeq NM_014926) ENST00000241274.1 ENST00000241274.2 KIAA0848 NM_014926 O94933 Q1RMY6 SLIK3_HUMAN uc003fek.1 uc003fek.2 uc003fek.3 uc003fek.4 This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]. Suppresses neurite outgrowth (By similarity). Membrane; Single-pass type I membrane protein (Potential). Expressed in the occipital lobe of the cerebral cortex of the brain. Expressed at higher levels in some astrocytic brain tumors such as astrocytomas, oligodendrogliomas, glioblastomas, gangliogliomas and primitive neuroectodermal tumors. Belongs to the SLITRK family. Contains 12 LRR (leucine-rich) repeats. Contains 2 LRRCT domains. Contains 1 LRRNT domain. Sequence=BAA74871.2; Type=Erroneous initiation; plasma membrane axonogenesis membrane integral component of membrane positive regulation of synapse assembly GABA-ergic synapse integral component of postsynaptic membrane integral component of postsynaptic specialization membrane integral component of postsynaptic density membrane synaptic membrane adhesion regulation of presynapse assembly  uc003fek.1 uc003fek.2 uc003fek.3 uc003fek.4 
ENST00000241305.4 CPXM2 ENST00000241305.4 Homo sapiens carboxypeptidase X, M14 family member 2 (CPXM2), mRNA. (from RefSeq NM_198148) CPXM2_HUMAN ENST00000241305.1 ENST00000241305.2 ENST00000241305.3 NM_198148 Q8N436 UNQ676/PRO1310 uc001lhk.1 uc001lhk.2 uc001lhk.3 May be involved in cell-cell interactions. Secreted (Probable). Belongs to the peptidase M14 family. Contains 1 F5/8 type C domain. As it has lost active sites residues and zinc-binding sites it is unlikely to be catalytically active. metallocarboxypeptidase activity extracellular region extracellular space proteolysis peptide metabolic process zinc ion binding protein processing  uc001lhk.1 uc001lhk.2 uc001lhk.3 
ENST00000241337.9 GSTM2 ENST00000241337.9 Homo sapiens glutathione S-transferase mu 2 (GSTM2), transcript variant 1, mRNA. (from RefSeq NM_000848) ENST00000241337.1 ENST00000241337.2 ENST00000241337.3 ENST00000241337.4 ENST00000241337.5 ENST00000241337.6 ENST00000241337.7 ENST00000241337.8 GST4 GSTM2_HUMAN NM_000848 P28161 Q2M318 Q5TZY5 Q8WWE1 uc001dyj.1 uc001dyj.2 uc001dyj.3 uc001dyj.4 uc001dyj.5 Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]. Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. RX + glutathione = HX + R-S-glutathione. Homodimer. Cytoplasm. Muscle. Belongs to the GST superfamily. Mu family. Contains 1 GST C-terminal domain. Contains 1 GST N-terminal domain. glutathione transferase activity glutathione peroxidase activity receptor binding protein binding cytoplasm cytosol glutathione metabolic process regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion sarcoplasmic reticulum transferase activity nitrobenzene metabolic process enzyme binding xenobiotic catabolic process protein homodimerization activity glutathione binding linoleic acid metabolic process intercellular bridge relaxation of cardiac muscle negative regulation of ryanodine-sensitive calcium-release channel activity positive regulation of ryanodine-sensitive calcium-release channel activity extracellular exosome cellular detoxification of nitrogen compound cellular response to caffeine cellular oxidant detoxification glutathione derivative biosynthetic process  uc001dyj.1 uc001dyj.2 uc001dyj.3 uc001dyj.4 uc001dyj.5 
ENST00000241356.5 ADORA3 ENST00000241356.5 Homo sapiens adenosine A3 receptor (ADORA3), transcript variant C, mRNA. (from RefSeq NM_001302679) ENST00000241356.1 ENST00000241356.2 ENST00000241356.3 ENST00000241356.4 NM_001302679 P0DMS8 uc001ebh.1 uc001ebh.2 uc001ebh.3 uc001ebh.4 uc001ebh.5 uc001ebh.6 This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5' terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014].  uc001ebh.1 uc001ebh.2 uc001ebh.3 uc001ebh.4 uc001ebh.5 uc001ebh.6 
ENST00000241391.9 GTDC1 ENST00000241391.9 Homo sapiens glycosyltransferase like domain containing 1 (GTDC1), transcript variant 45, mRNA. (from RefSeq NM_001376331) A8K5P2 D3DP81 ENST00000241391.1 ENST00000241391.2 ENST00000241391.3 ENST00000241391.4 ENST00000241391.5 ENST00000241391.6 ENST00000241391.7 ENST00000241391.8 GTDC1_HUMAN NM_001376331 Q4AE62 Q53SM7 Q53TC5 Q6P7E7 Q6PJB6 Q6WKW6 Q9HAE5 uc002tvo.1 uc002tvo.2 uc002tvo.3 uc002tvo.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q4AE62-1; Sequence=Displayed; Name=2; IsoId=Q4AE62-2; Sequence=VSP_029379; Name=3; IsoId=Q4AE62-3; Sequence=VSP_029378; Ubiquitous. Expressed at high levels in the lung, spleen, testis and peripheral blood leukocytes. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily. Sequence=AAX93131.1; Type=Erroneous initiation; Sequence=BAB13904.1; Type=Erroneous initiation;  uc002tvo.1 uc002tvo.2 uc002tvo.3 uc002tvo.4 
ENST00000241393.4 CXCR4 ENST00000241393.4 Homo sapiens C-X-C motif chemokine receptor 4 (CXCR4), transcript variant 2, mRNA. (from RefSeq NM_003467) B2R5N0 CXCR4_HUMAN ENST00000241393.1 ENST00000241393.2 ENST00000241393.3 NM_003467 O60835 P30991 P56438 P61073 Q53S69 Q9BXA0 Q9UKN2 uc002tuz.1 uc002tuz.2 uc002tuz.3 uc002tuz.4 uc002tuz.5 This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Receptor for the C-X-C chemokine CXCL12/SDF-1 that transduces a signal by increasing intracellular calcium ion levels and enhancing MAPK1/MAPK3 activation. Acts as a receptor for extracellular ubiquitin; leading to enhanced intracellular calcium ions and reduced cellular cAMP levels. Involved in hematopoiesis and in cardiac ventricular septum formation. Also plays an essential role in vascularization of the gastrointestinal tract, probably by regulating vascular branching and/or remodeling processes in endothelial cells. Involved in cerebellar development. In the CNS, could mediate hippocampal-neuron survival. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 X4 isolates and as a primary receptor for some HIV-2 isolates. Promotes Env-mediated fusion of the virus. Monomer. Can form dimers. Interacts with CD164. Interacts with HIV-1 surface protein gp120 and Tat. Interacts with ARRB2; the interaction is dependent on the C-terminal phosphorylation of CXCR4 and allows activation of MAPK1 and MAPK3. Interacts with ARRC; the interaction is dependent on the C-terminal phosphorylation of CXCR4 and modulates calcium mobilization. Interacts (via the cytoplasmic C-terminal) with ITCH (via the WW domains I and II); the interaction, enhanced by CXCL12, ubiquitinates CXCR4 and leads to its degradation. Interacts with extracellular ubiquitin. Interacts with human cytomegalovirus/HHV- 5 protein UL78. P35579:MYH9; NbExp=5; IntAct=EBI-489411, EBI-350338; Cell membrane; Multi-pass membrane protein. Note=In unstimulated cells, diffuse pattern on plasma membrane. On agonist stimulation, colocalizes with ITCH at the plasma membrane where it becomes ubiquitinated. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; IsoId=P61073-1, P30991-1; Sequence=Displayed; Name=2; Synonyms=CXCR4-LO; IsoId=P61073-2, P30991-2; Sequence=VSP_001890; Expressed in numerous tissues, such as peripheral blood leukocytes, spleen, thymus, spinal cord, heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, cerebellum, cerebral cortex and medulla (in microglia as well as in astrocytes), brain microvascular, coronary artery and umbilical cord endothelial cells. Isoform 1 is predominant in all tissues tested. The amino-terminus is critical for ligand binding. Residues in all four extracellular regions contribute to HIV-1 coreceptor activity. Phosphorylated on agonist stimulation. Rapidly phosphorylated on serine and threonine residues in the C-terminal. Phosphorylation at Ser-324 and Ser-325 leads to recruitment of ITCH, ubiquitination and protein degradation. Ubiquitinated by ITCH at the cell membrane on agonist stimulation. The ubiquitin-dependent mechanism, endosomal sorting complex required for transport (ESCRT), then targets CXCR4 for lysosomal degradation. This process is dependent also on prior Ser-/Thr-phosphorylation in the C-terminal of CXCR4. Also binding of ARRB1 to STAM negatively regulates CXCR4 sorting to lysosomes though modulating ubiquitination of SFR5S. Sulfation on Tyr-21 is required for efficient binding of CXCL12/SDF-1alpha and promotes its dimerization. Tyr-7 and Tyr-12 are sulfated in a sequential manner after Tyr-21 is almost fully sulfated, with the binding affinity for CXCL12/SDF-1alpha increasing with the number of sulfotyrosines present. Sulfotyrosines Tyr-7 and Tyr-12 occupy clefts on opposing CXCL12 subunits, thus bridging the CXCL12 dimer interface and promoting CXCL12 dimerization. O- and N-glycosylated. Asn-11 is the principal site of N- glycosylation. There appears to be very little or no glycosylation on Asn-176. N-glycosylation masks coreceptor function in both X4 and R5 laboratory-adapted and primary HIV-1 strains through inhibiting interaction with their Env glycoproteins. The O- glycosylation chondroitin sulfate attachment does not affect interaction with CXCL12/SDF-1alpha nor its coreceptor activity. Defects in CXCR4 are a cause of WHIM syndrome (WHIM) [MIM:193670]; also known as warts, hypogammaglobulinemia, infections and myelokathexis. WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. Plerixafor (AMD3100), an antagonist of CXCR4 activity, blocks HIV-1 entry, interaction with CXCL12 and subsequent CXCR4 signaling. Belongs to the G-protein coupled receptor 1 family. Was originally (PubMed:8329116 and PubMed:8234909) thought to be a receptor for neuropeptide Y type 3 (NPY3R) (NPY3- R). Sequence=CAA12166.1; Type=Miscellaneous discrepancy; Note=Intron retention; Name=CXCR4base; Note=CXCR4 mutation db; URL="http://bioinf.uta.fi/CXCR4base/"; Name=Wikipedia; Note=CXC chemokine receptors entry; URL="http://en.wikipedia.org/wiki/CXC_chemokine_receptors"; Name=Wikipedia; Note=CXCR4 entry; URL="http://en.wikipedia.org/wiki/CXCR4"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cxcr4/"; activation of MAPK activity virus receptor activity response to hypoxia neuron migration epithelial cell development dendritic cell chemotaxis actin binding G-protein coupled receptor activity chemokine receptor activity protein binding nucleus cytoplasm lysosome endosome early endosome late endosome plasma membrane apoptotic process chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration axon guidance brain development neuron recognition drug binding response to virus external side of plasma membrane cell surface response to activity coreceptor activity membrane integral component of membrane viral process cell migration C-C chemokine receptor activity C-X-C chemokine receptor activity fusion of virus membrane with host plasma membrane calcium-mediated signaling cytokine binding chemokine binding C-C chemokine binding neurogenesis telencephalon cell migration cell junction regulation of cell adhesion entry into host cell positive regulation of cell migration cell leading edge cytoplasmic vesicle ubiquitin protein ligase binding myosin light chain binding macromolecular complex positive regulation of vascular wound healing cellular response to drug C-X-C motif chemokine 12 receptor activity CXCL12-activated CXCR4 signaling pathway identical protein binding regulation of programmed cell death ubiquitin binding myelin maintenance response to morphine endothelial cell differentiation positive regulation of oligodendrocyte differentiation positive regulation of neurogenesis regulation of viral process regulation of chemotaxis positive regulation of chemotaxis detection of temperature stimulus involved in sensory perception of pain detection of mechanical stimulus involved in sensory perception of pain regulation of calcium ion transport cardiac muscle contraction cell chemotaxis endothelial tube morphogenesis extracellular exosome cellular response to cytokine stimulus positive regulation of dendrite extension positive regulation of mesenchymal stem cell migration response to ultrasound positive regulation of macrophage migration inhibitory factor signaling pathway  uc002tuz.1 uc002tuz.2 uc002tuz.3 uc002tuz.4 uc002tuz.5 
ENST00000241416.12 ACVR2A ENST00000241416.12 Homo sapiens activin A receptor type 2A (ACVR2A), transcript variant 2, mRNA. (from RefSeq NM_001616) ACVR2 AVR2A_HUMAN B2RAB8 D3DP85 ENST00000241416.1 ENST00000241416.10 ENST00000241416.11 ENST00000241416.2 ENST00000241416.3 ENST00000241416.4 ENST00000241416.5 ENST00000241416.6 ENST00000241416.7 ENST00000241416.8 ENST00000241416.9 NM_001616 P27037 Q53TH4 Q6NWV2 Q92474 uc002twh.1 uc002twh.2 uc002twh.3 uc002twh.4 uc002twh.5 uc002twh.6 This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. Magnesium or manganese (By similarity). Interacts with AIP1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3 (By similarity). Membrane; Single-pass type I membrane protein. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ACVR2ID567ch2q22.html"; Name=CGP resequencing studies; URL="http://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=gene&ln=ACVR2"; nucleotide binding gastrulation with mouth forming second positive regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type II protein binding ATP binding cytoplasm plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway spermatogenesis determination of left/right symmetry pattern specification process mesoderm development male gonad development anterior/posterior pattern specification regulation of signal transduction cell surface positive regulation of pathway-restricted SMAD protein phosphorylation coreceptor activity membrane integral component of membrane kinase activity phosphorylation transferase activity growth factor binding PDZ domain binding positive regulation of bone mineralization BMP signaling pathway activin receptor signaling pathway positive regulation of activin receptor signaling pathway inhibin-betaglycan-ActRII complex inhibin binding type I transforming growth factor beta receptor binding sperm ejaculation penile erection receptor complex protein self-association positive regulation of erythrocyte differentiation positive regulation of osteoblast differentiation positive regulation of transcription from RNA polymerase II promoter SMAD binding metal ion binding activin receptor complex activin binding embryonic skeletal system development regulation of nitric-oxide synthase activity Sertoli cell proliferation cellular response to BMP stimulus BMP receptor activity activin-activated receptor activity  uc002twh.1 uc002twh.2 uc002twh.3 uc002twh.4 uc002twh.5 uc002twh.6 
ENST00000241436.9 POLK ENST00000241436.9 DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. (from UniProt Q9UBT6) B2RBD2 DINB1 ENST00000241436.1 ENST00000241436.2 ENST00000241436.3 ENST00000241436.4 ENST00000241436.5 ENST00000241436.6 ENST00000241436.7 ENST00000241436.8 NR_170560 POLK_HUMAN Q86VJ8 Q8IZY0 Q8IZY1 Q8NB30 Q96L01 Q96Q86 Q96Q87 Q9UBT6 Q9UHC5 uc003kdw.1 uc003kdw.2 uc003kdw.3 uc003kdw.4 uc003kdw.5 DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Divalent metal cations. Prefers magnesium, but can also use manganese. pH dependence: Optimum pH is 6.5-7.5; Temperature dependence: Optimum temperature is 37 degrees Celsius; Interacts with REV1 (By similarity). Interacts with PCNA. Nucleus. Note=Detected throughout the nucleus and at replication foci. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UBT6-1; Sequence=Displayed; Name=2; IsoId=Q9UBT6-2; Sequence=VSP_012801, VSP_012802; Note=No experimental confirmation available; Name=3; IsoId=Q9UBT6-3; Sequence=VSP_012803; Name=4; IsoId=Q9UBT6-4; Sequence=VSP_012804, VSP_012805, VSP_012806; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; Detected at low levels in testis, spleen, prostate and ovary. Detected at very low levels in kidney, colon, brain, heart, liver, lung, placenta, pancreas and peripheral blood leukocytes. The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric constraints, with consequently higher rates of misincorporation and low processivity. Belongs to the DNA polymerase type-Y family. Contains 2 UBZ-type zinc fingers. Contains 1 umuC domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/polk/"; DNA binding damaged DNA binding DNA-directed DNA polymerase activity nucleus nucleoplasm DNA replication DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling cellular response to DNA damage stimulus nuclear body transferase activity nucleotidyltransferase activity translesion synthesis nucleotide-excision repair, DNA incision cellular response to UV error-prone translesion synthesis metal ion binding DNA biosynthetic process  uc003kdw.1 uc003kdw.2 uc003kdw.3 uc003kdw.4 uc003kdw.5 
ENST00000241453.12 FLT3 ENST00000241453.12 Homo sapiens fms related receptor tyrosine kinase 3 (FLT3), transcript variant 1, mRNA. (from RefSeq NM_004119) A0AVG9 B7ZLT7 B7ZLT8 CD135 ENST00000241453.1 ENST00000241453.10 ENST00000241453.11 ENST00000241453.2 ENST00000241453.3 ENST00000241453.4 ENST00000241453.5 ENST00000241453.6 ENST00000241453.7 ENST00000241453.8 ENST00000241453.9 F5H0A0 FLK2 FLT3_HUMAN NM_004119 P36888 Q13414 STK1 uc001urw.1 uc001urw.2 uc001urw.3 uc001urw.4 This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]. Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine FLT3LG and regulates differentiation, proliferation and survival of hematopoietic progenitor cells and of dendritic cells. Promotes phosphorylation of SHC1 and AKT1, and activation of the downstream effector MTOR. Promotes activation of RAS signaling and phosphorylation of downstream kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation of FES, FER, PTPN6/SHP, PTPN11/SHP-2, PLCG1, and STAT5A and/or STAT5B. Activation of wild-type FLT3 causes only marginal activation of STAT5A or STAT5B. Mutations that cause constitutive kinase activity promote cell proliferation and resistance to apoptosis via the activation of multiple signaling pathways. ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. Present in an inactive conformation in the absence of bound ligand. FLT3LG binding leads to dimerization and activation by autophosphorylation. Monomer in the absence of bound FLT3LG. Homodimer in the presence of bound FLT3LG. Interacts with FIZ1 following ligand activation (By similarity). Interacts with FES, FER, LYN, FGR, HCK, SRC and GRB2. Interacts with PTPRJ/DEP-1 and PTPN11/SHP2. Q9Y6K9:IKBKG; NbExp=2; IntAct=EBI-3946257, EBI-81279; Membrane; Single-pass type I membrane protein. Endoplasmic reticulum lumen. Note=Constitutively activated mutant forms with internal tandem duplications are less efficiently transported to the cell surface and a significant proportion is retained in an immature form in the endoplasmic reticulum lumen. The activated kinase is rapidly targeted for degradation. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P36888-1; Sequence=Displayed; Name=2; IsoId=P36888-2; Sequence=VSP_041796; Detected in bone marrow, in hematopoietic stem cells, in myeloid progenitor cells and in granulocyte/macrophage progenitor cells (at protein level). Detected in bone marrow, liver, thymus, spleen and lymph node, and at low levels in kidney and pancreas. Highly expressed in T-cell leukemia. The juxtamembrane autoregulatory region is important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand. Upon tyrosine phosphorylation, it mediates interaction with the SH2 domains of numerous signaling partners. In-frame internal tandem duplications (ITDs) result in constitutive activation of the kinase. The activity of the mutant kinase can be stimulated further by FLT3LG binding. N-glycosylated, contains complex N-glycans with sialic acid. Autophosphorylated on several tyrosine residues in response to FLT3LG binding. FLT3LG binding also increases phosphorylation of mutant kinases that are constitutively activated. Dephosphorylated by PTPRJ/DEP-1, PTPN1, PTPN6/SHP-1, and to a lesser degree by PTPN12. Dephosphorylation is important for export from the endoplasmic reticulum and location at the cell membrane. Rapidly ubiquitinated by UBE2L6 and the E3 ubiquitin-protein ligase SIAH1 after autophosphorylation, leading to its proteasomal degradation. Defects in FLT3 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development. Note=Somatic mutations that lead to constitutive activation of FLT3 are frequent in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the activation loop of the kinase domain can result in a constitutively activated kinase. Can be used as diagnostic tool to establish the exact cause of acute myeloid leukemia, and to determine the optimal therapy. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. Contains 1 Ig-like C2-type (immunoglobulin-like) domain. Contains 1 protein kinase domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FLT3ID144.html"; MAPK cascade nucleotide binding leukocyte homeostasis hematopoietic progenitor cell differentiation myeloid progenitor cell differentiation pro-B cell differentiation leukocyte differentiation protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity cytokine receptor activity vascular endothelial growth factor-activated receptor activity protein binding ATP binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum lumen cytosol plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell proliferation response to organonitrogen compound positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane viral process kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cytokine-mediated signaling pathway hemopoiesis lymphocyte differentiation cell differentiation B cell differentiation animal organ regeneration macromolecular complex glucocorticoid receptor binding common myeloid progenitor cell proliferation vascular endothelial growth factor signaling pathway positive regulation of tyrosine phosphorylation of STAT protein protein homodimerization activity regulation of apoptotic process receptor complex positive regulation of MAP kinase activity positive regulation of MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity protein self-association macromolecular complex binding lymphocyte proliferation protein autophosphorylation cellular response to cytokine stimulus cellular response to glucocorticoid stimulus dendritic cell differentiation  uc001urw.1 uc001urw.2 uc001urw.3 uc001urw.4 
ENST00000241463.5 RASL11A ENST00000241463.5 Homo sapiens RAS like family 11 member A (RASL11A), transcript variant 1, mRNA. (from RefSeq NM_206827) B2RN97 ENST00000241463.1 ENST00000241463.2 ENST00000241463.3 ENST00000241463.4 NM_206827 Q6T310 RSLBA_HUMAN uc001urd.1 uc001urd.2 RASL11A is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: DRR138515.829203.1, AY439004.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241463.5/ ENSP00000241463.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (By similarity). Interacts with UBF/UBTF (By similarity). Nucleus, nucleolus (By similarity). Note=Associates with rDNA transcription unit throughout the cell cycle (By similarity). Widely expressed. Down-regulated in prostate tumors compared to normal prostate tissue. High levels found in colon tumor and normal colon tissue followed by small intestine, liver, jejunum, ileum, bladder and aorta. Lowest levels observed in endothelial cells. Down-regulated during development of THP-1 monocytes into macrophages. Down-regulated by TGFB1. Belongs to the small GTPase superfamily. Ras family. Although highly related to the Ras family, lacks the conserved prenylation motif at the C-terminus, which serves to target Ras proteins to membrane compartments. nucleotide binding GTPase activity GTP binding nucleus nucleolus signal transduction membrane positive regulation of transcription from RNA polymerase I promoter  uc001urd.1 uc001urd.2 
ENST00000241502.9 FYTTD1 ENST00000241502.9 Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA. (from RefSeq NM_032288) A8MY74 B2RCB2 B7Z3R4 B7Z7V1 B7Z8I0 B7ZAJ3 C9J7P6 C9JNG6 C9JTH3 C9JY50 ENST00000241502.1 ENST00000241502.2 ENST00000241502.3 ENST00000241502.4 ENST00000241502.5 ENST00000241502.6 ENST00000241502.7 ENST00000241502.8 NM_032288 Q96QD9 Q96SL9 Q9BQI8 UIF UIF_HUMAN uc003fyi.1 uc003fyi.2 uc003fyi.3 uc003fyi.4 Required for mRNA export from the nucleus to the cytoplasm. Acts as an adapter that uses the DDX39B/UAP56-NFX1 pathway to ensure efficient mRNA export and delivering to the nuclear pore. Associates with spliced and unspliced mRNAs simultaneously with ALYREF/THOC4. Interacts with DDX39B/UAP56 and NXF1; interaction with DDX39B/UAP56 and NXF1 are mutually exclusive. Interacts with SSRP1; required for its recruitment to mRNAs. Nucleus, nucleoplasm. Nucleus speckle. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96QD9-1; Sequence=Displayed; Name=2; IsoId=Q96QD9-2; Sequence=VSP_038659; Note=No experimental confirmation available; Name=3; IsoId=Q96QD9-3; Sequence=VSP_038658; Note=No experimental confirmation available; Name=4; IsoId=Q96QD9-4; Sequence=VSP_038660, VSP_038661; Note=No experimental confirmation available; Belongs to the UIF family. RNA binding mRNA binding protein binding nucleus nucleoplasm mRNA export from nucleus nuclear speck mRNA transport  uc003fyi.1 uc003fyi.2 uc003fyi.3 uc003fyi.4 
ENST00000241527.10 MTERF4 ENST00000241527.10 Belongs to the mTERF family. (from UniProt Q7Z6M4) BX648184 ENST00000241527.1 ENST00000241527.2 ENST00000241527.3 ENST00000241527.4 ENST00000241527.5 ENST00000241527.6 ENST00000241527.7 ENST00000241527.8 ENST00000241527.9 HSPC096 MTER2_HUMAN MTERFD2 Q7Z6M4 Q9P0E0 uc061uks.1 Belongs to the mTERF family. Sequence=AAF28919.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; double-stranded DNA binding RNA binding protein binding mitochondrion mitochondrial matrix mitochondrial large ribosomal subunit cytosol regulation of transcription, DNA-templated rRNA processing transcription from mitochondrial promoter protein targeting to mitochondrion heart development rRNA binding rRNA methylation mitochondrial translation ribosome assembly camera-type eye development mitochondrial ribosome assembly  uc061uks.1 
ENST00000241600.10 MRPS2 ENST00000241600.10 Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016034) CGI-91 ENST00000241600.1 ENST00000241600.2 ENST00000241600.3 ENST00000241600.4 ENST00000241600.5 ENST00000241600.6 ENST00000241600.7 ENST00000241600.8 ENST00000241600.9 NM_016034 Q5T899 Q9BSQ4 Q9Y399 RT02_HUMAN uc064wyt.1 uc064wyt.2 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]. Sequence Note: A downstream translational start codon is selected for this RefSeq based on its better conservation in mammalian species, a strong Kozak signal and on the presence of a predicted mitochondrial targeting sequence in the protein N-terminus. An upstream in-frame start codon is also present but has a weaker Kozak signal and is poorly conserved, and use of the upstream start codon would result in a protein that is 23 aa longer at the N-terminus and lacks a predicted mitochondrial targeting sequence. Leaky scanning by ribosomes may allow translation initiation at the downstream start codon. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.317210.1, SRR3476690.962129.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000241600.10/ ENSP00000241600.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. Mitochondrion. Belongs to the ribosomal protein S2P family. Sequence=AAH04905.2; Type=Erroneous translation; Note=Wrong choice of frame; structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome translation small ribosomal subunit mitochondrial translation mitochondrial ribosome assembly mitochondrial translational elongation mitochondrial translational termination  uc064wyt.1 uc064wyt.2 
ENST00000241651.5 MYOG ENST00000241651.5 Homo sapiens myogenin (MYOG), mRNA. (from RefSeq NM_002479) BHLHC3 ENST00000241651.1 ENST00000241651.2 ENST00000241651.3 ENST00000241651.4 MYF4 MYOG_HUMAN NM_002479 P15173 Q53XW6 uc001gzd.1 uc001gzd.2 uc001gzd.3 uc001gzd.4 uc001gzd.5 uc001gzd.6 Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053899.1, ERR279849.7471.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158800, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000241651.5/ ENSP00000241651.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding ossification DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated cell cycle multicellular organism development muscle organ development skeletal muscle tissue development negative regulation of cell proliferation response to gravity positive regulation of myotube differentiation skeletal muscle atrophy positive regulation of muscle atrophy regulation of skeletal muscle satellite cell proliferation response to muscle activity response to muscle activity involved in regulation of muscle adaptation response to electrical stimulus involved in regulation of muscle adaptation striated muscle atrophy response to denervation involved in regulation of muscle adaptation myotube differentiation cell differentiation chromatin DNA binding protein-DNA complex skeletal muscle cell differentiation muscle cell fate commitment mRNA transcription from RNA polymerase II promoter skeletal muscle tissue regeneration sequence-specific DNA binding myoblast differentiation positive regulation of myoblast differentiation negative regulation of glycolytic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity skeletal muscle fiber development positive regulation of skeletal muscle fiber development positive regulation of muscle cell differentiation E-box binding positive regulation of cell cycle arrest cellular response to magnetism cellular response to lithium ion cellular response to retinoic acid cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to estradiol stimulus regulation of myoblast fusion positive regulation of myoblast fusion positive regulation of oxidative phosphorylation  uc001gzd.1 uc001gzd.2 uc001gzd.3 uc001gzd.4 uc001gzd.5 uc001gzd.6 
ENST00000241704.8 COPA ENST00000241704.8 Homo sapiens COPI coat complex subunit alpha (COPA), transcript variant 2, mRNA. (from RefSeq NM_004371) COPA_HUMAN ENST00000241704.1 ENST00000241704.2 ENST00000241704.3 ENST00000241704.4 ENST00000241704.5 ENST00000241704.6 ENST00000241704.7 NM_004371 P53621 Q5T201 Q8IXZ9 uc009wti.1 uc009wti.2 uc009wti.3 uc009wti.4 uc009wti.5 In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]. The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). Xenin stimulates exocrine pancreatic secretion. It inhibits pentagastrin-stimulated secretion of acid, to induce exocrine pancreatic secretion and to affect small and large intestinal motility. In the gut, xenin interacts with the neurotensin receptor. Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Probably interacts with PEX11A. Interacts with SCYL1 (By similarity). Cytoplasm (By similarity). Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it (By similarity). Xenin: Secreted (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P53621-1; Sequence=Displayed; Name=2; IsoId=P53621-2; Sequence=VSP_035043; Uniformly expressed in a wide range of adult and fetal tissues. Xenin is found in gastric, duodenal and jejunal mucosa. Circulates in the blood. Seems to be confined to specific endocrine cells. Xenin is released into the circulation after a meal. Modified_positions=164; Note=Edited at about 31%. Contains 6 WD repeats. Name=Wikipedia; Note=Xenin entry; URL="http://en.wikipedia.org/wiki/Xenin"; Golgi membrane hormone activity structural molecule activity extracellular region extracellular space cytoplasm endoplasmic reticulum membrane Golgi apparatus cytosol intracellular protein transport ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER intra-Golgi vesicle-mediated transport signal transduction protein transport membrane vesicle-mediated transport membrane coat COPI vesicle coat transport vesicle pancreatic juice secretion COPI-coated vesicle membrane cytoplasmic vesicle extracellular exosome  uc009wti.1 uc009wti.2 uc009wti.3 uc009wti.4 uc009wti.5 
ENST00000241802.9 HLA-DQA2 ENST00000241802.9 Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA. (from RefSeq NM_020056) A2BF37 B0V0E7 DQA2_HUMAN ENST00000241802.1 ENST00000241802.2 ENST00000241802.3 ENST00000241802.4 ENST00000241802.5 ENST00000241802.6 ENST00000241802.7 ENST00000241802.8 HLA-DXA NM_020056 O19789 P01906 Q5SQ94 Q5SR04 uc302who.1 This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374940.4/ ENSP00000364076.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal miroenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading. Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides. Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single- pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation. Expressed at low levels at the surface of B lymphoblastoid cells. Belongs to the MHC class II family. Contains 1 Ig-like C1-type (immunoglobulin-like) domain. There is some controversy on whether this gene is really expressed or not. Golgi membrane adaptive immune response immune system process antigen processing and presentation of peptide or polysaccharide antigen via MHC class II lysosome lysosomal membrane endosome endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane immune response endosome membrane ER to Golgi transport vesicle membrane membrane integral component of membrane antigen processing and presentation antigen processing and presentation of exogenous peptide antigen via MHC class II transport vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane MHC class II receptor activity trans-Golgi network membrane MHC class II protein complex T cell receptor signaling pathway interferon-gamma-mediated signaling pathway integral component of lumenal side of endoplasmic reticulum membrane  uc302who.1 
ENST00000241808.9 PRM2 ENST00000241808.9 Homo sapiens protamine 2 (PRM2), transcript variant 6, non-coding RNA. (from RefSeq NR_104428) ENST00000241808.1 ENST00000241808.2 ENST00000241808.3 ENST00000241808.4 ENST00000241808.5 ENST00000241808.6 ENST00000241808.7 ENST00000241808.8 NR_104428 Q1LZN1 Q1LZN1_HUMAN hCG_15066 uc002dau.1 uc002dau.2 uc002dau.3 Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]. DNA binding protein binding DNA packaging spermatid development  uc002dau.1 uc002dau.2 uc002dau.3 
ENST00000241891.10 OPN4 ENST00000241891.10 Homo sapiens opsin 4 (OPN4), transcript variant 1, mRNA. (from RefSeq NM_033282) B7ZLB3 ENST00000241891.1 ENST00000241891.2 ENST00000241891.3 ENST00000241891.4 ENST00000241891.5 ENST00000241891.6 ENST00000241891.7 ENST00000241891.8 ENST00000241891.9 MOP NM_033282 OPN4_HUMAN Q14D01 Q2PP22 Q8NGQ9 Q9UHM6 uc001kdq.1 uc001kdq.2 uc001kdq.3 uc001kdq.4 uc001kdq.5 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Photoreceptor required for regulation of circadian rhythm. Contributes to pupillar reflex and other non-image forming responses to light. May be able to isomerize covalently bound all- trans retinal back to 11-cis retinal (By similarity). Membrane; Multi-pass membrane protein. Note=Found in soma, dendrites and proximal part of axons of certain retinal ganglion cells (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UHM6-1; Sequence=Displayed; Name=2; IsoId=Q9UHM6-2; Sequence=VSP_041123; Eye. Expression is restricted within the ganglion and amacrine cell layers of the retina. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. Sequence=BAC05951.1; Type=Erroneous gene model prediction; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/opn4/"; G-protein coupled receptor activity 11-cis retinal binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway visual perception phototransduction G-protein coupled photoreceptor activity detection of visible light photoreceptor activity membrane integral component of membrane protein-chromophore linkage regulation of circadian rhythm rhythmic process response to stimulus cellular response to light stimulus photoreceptor disc membrane  uc001kdq.1 uc001kdq.2 uc001kdq.3 uc001kdq.4 uc001kdq.5 
ENST00000242057.9 AHR ENST00000242057.9 Homo sapiens aryl hydrocarbon receptor (AHR), mRNA. (from RefSeq NM_001621) A4D130 AHR_HUMAN BHLHE76 ENST00000242057.1 ENST00000242057.2 ENST00000242057.3 ENST00000242057.4 ENST00000242057.5 ENST00000242057.6 ENST00000242057.7 ENST00000242057.8 NM_001621 P35869 Q13728 Q13803 Q13804 uc011jxz.1 uc011jxz.2 uc011jxz.3 The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.231889.1, SRR1660809.233497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242057.9/ ENSP00000242057.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand-activated transcriptional activator. Binds to the XRE promoter region of genes it activates. Activates the expression of multiple phase I and II xenobiotic chemical metabolizing enzyme genes (such as the CYP1A1 gene). Mediates biochemical and toxic effects of halogenated aromatic hydrocarbons. Involved in cell-cycle regulation. Likely to play an important role in the development and maturation of many tissues. Binds MYBBP1A (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. In the nucleus, heterodimer of AHR and ARNT. Interacts with coactivators including SRC-1, RIP140 and NOCA7, and with the corepressor SMRT. Interacts with NEDD8 and IVNS1ABP. P27540:ARNT; NbExp=5; IntAct=EBI-80780, EBI-80809; P12977:EBNA3 (xeno); NbExp=5; IntAct=EBI-80780, EBI-993115; Q8NI08:NCOA7; NbExp=2; IntAct=EBI-80780, EBI-80799; Q9Y618:NCOR2; NbExp=2; IntAct=EBI-80780, EBI-80830; Cytoplasm. Nucleus. Note=Initially cytoplasmic; upon binding with ligand and interaction with a HSP90, it translocates to the nucleus. Expressed in all tissues tested including blood, brain, heart, kidney, liver, lung, pancreas and skeletal muscle. Induced or repressed by TGFB1 and dioxin in a cell-type specific fashion. Repressed by cAMP, retinoic acid, and 12-O- tetradecanoyl phorbol-13 acetate (TPA). Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 PAC (PAS-associated C-terminal) domain. Contains 2 PAS (PER-ARNT-SIM) domains. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding TFIID-class transcription factor binding transcription coactivator binding blood vessel development DNA binding transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter xenobiotic metabolic process apoptotic process cell cycle transcription factor binding response to xenobiotic stimulus response to toxic substance regulation of gene expression TBP-class protein binding cAMP-mediated signaling intracellular receptor signaling pathway regulation of B cell proliferation circadian regulation of gene expression macromolecular complex aryl hydrocarbon receptor complex cytosolic aryl hydrocarbon receptor complex enhancer binding protein homodimerization activity transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity rhythmic process Hsp90 protein binding E-box binding cellular response to cAMP cellular response to forskolin cellular response to 2,3,7,8-tetrachlorodibenzodioxine sequence-specific double-stranded DNA binding  uc011jxz.1 uc011jxz.2 uc011jxz.3 
ENST00000242059.10 SCRN1 ENST00000242059.10 Homo sapiens secernin 1 (SCRN1), transcript variant 2, mRNA. (from RefSeq NM_014766) A8K0E9 B4DHM0 B4DIP5 C9JPG0 ENST00000242059.1 ENST00000242059.2 ENST00000242059.3 ENST00000242059.4 ENST00000242059.5 ENST00000242059.6 ENST00000242059.7 ENST00000242059.8 ENST00000242059.9 KIAA0193 NM_014766 Q12765 Q25QX7 Q8IWD1 SCRN1_HUMAN uc003tak.1 uc003tak.2 uc003tak.3 uc003tak.4 uc003tak.5 This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q12765-1; Sequence=Displayed; Name=2; IsoId=Q12765-2; Sequence=VSP_044454; Note=No experimental confirmation available; Name=3; IsoId=Q12765-3; Sequence=VSP_044453; Note=No experimental confirmation available; 'Secern' is an archaic English term meaning 'secrete'. Belongs to the peptidase C69 family. Secernin subfamily. Sequence=BAA12106.2; Type=Erroneous initiation; molecular_function protein binding nucleus cytoplasm proteolysis exocytosis dipeptidase activity nuclear membrane  uc003tak.1 uc003tak.2 uc003tak.3 uc003tak.4 uc003tak.5 
ENST00000242066.10 ETV1 ENST00000242066.10 Homo sapiens ETS variant transcription factor 1 (ETV1), transcript variant 3, mRNA. (from RefSeq NM_001163148) A4D118 B2R768 B7Z2I4 B7Z9P2 C9JT37 ENST00000242066.1 ENST00000242066.2 ENST00000242066.3 ENST00000242066.4 ENST00000242066.5 ENST00000242066.6 ENST00000242066.7 ENST00000242066.8 ENST00000242066.9 ER81 ETV1_HUMAN NM_001163148 O75849 P50549 Q4KMQ6 Q59GA7 Q9UQ71 Q9Y636 uc064bqa.1 uc064bqa.2 This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]. Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. P78527:PRKDC; NbExp=2; IntAct=EBI-3905068, EBI-352053; Nucleus (Probable). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=P50549-1; Sequence=Displayed; Name=2; IsoId=P50549-2; Sequence=VSP_001472; Name=3; IsoId=P50549-3; Sequence=VSP_043750; Note=No experimental confirmation available; Name=4; IsoId=P50549-4; Sequence=VSP_043808, VSP_043809; Very highly expressed in brain, highly expressed in testis, lung and heart, moderately in spleen, small intestine, pancreas and colon, weakly in liver, prostate and thymus, very weakly in skeletal muscle, kidney and ovary and not in placenta and peripheral blood leukocytes. Sumoylated. Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity. Defects in ETV1 are a cause of Ewing sarcoma (ES) [MIM:612219]. A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. Note=A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Sequence=BAD92439.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter axon guidance muscle organ development mechanosensory behavior cell differentiation sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter peripheral nervous system neuron development  uc064bqa.1 uc064bqa.2 
ENST00000242067.11 BBS9 ENST00000242067.11 Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. (from RefSeq NM_198428) ENST00000242067.1 ENST00000242067.10 ENST00000242067.2 ENST00000242067.3 ENST00000242067.4 ENST00000242067.5 ENST00000242067.6 ENST00000242067.7 ENST00000242067.8 ENST00000242067.9 NM_198428 P78514 PTHB1 PTHB1_HUMAN Q3SYG4 Q7KYS6 Q7KYS7 Q8N570 Q99844 Q99854 Q9Y699 Q9Y6A0 uc003tdn.1 uc003tdn.2 uc003tdn.3 This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Q8NFJ9:BBS1; NbExp=6; IntAct=EBI-2826852, EBI-1805484; Q8TAM1:BBS10; NbExp=2; IntAct=EBI-2826852, EBI-6128013; Q6ZW61:BBS12; NbExp=2; IntAct=EBI-2826852, EBI-6128352; Q9BXC9:BBS2; NbExp=9; IntAct=EBI-2826852, EBI-748297; Q8N3I7:BBS5; NbExp=3; IntAct=EBI-2826852, EBI-2892592; Q9NQ48:LZTFL1; NbExp=6; IntAct=EBI-2826852, EBI-2824799; Q8TAM2:TTC8; NbExp=2; IntAct=EBI-2826852, EBI-2892638; Cytoplasm, cytoskeleton, centrosome. Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q3SYG4-1; Sequence=Displayed; Name=2; IsoId=Q3SYG4-2; Sequence=VSP_018426; Name=3; IsoId=Q3SYG4-3; Sequence=VSP_018428; Name=4; IsoId=Q3SYG4-4; Sequence=VSP_018427; Name=5; IsoId=Q3SYG4-5; Sequence=VSP_018421, VSP_018422, VSP_018423; Note=No experimental confirmation available; Name=6; IsoId=Q3SYG4-6; Sequence=VSP_018424, VSP_018425; Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. Down-regulated by parathyroid hormone. A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5) [MIM:601583]. Translocation t(1;7)(q42;p15) with OBSCN. Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera; Sequence=AAD25981.1; Type=Erroneous initiation; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS9"; pericentriolar material molecular_function protein binding cytoplasm microtubule organizing center cytosol cytoskeleton plasma membrane cilium visual perception protein transport membrane cell projection organization centriolar satellite BBSome ciliary transition zone cell projection fat cell differentiation response to stimulus ciliary membrane cilium assembly protein localization to cilium  uc003tdn.1 uc003tdn.2 uc003tdn.3 
ENST00000242104.6 OCM ENST00000242104.6 Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions. (from UniProt P0CE72) B9EJH7 ENST00000242104.1 ENST00000242104.2 ENST00000242104.3 ENST00000242104.4 ENST00000242104.5 NM_001391991 OCM1 OCMN ONCO_HUMAN P0CE72 P32930 Q6ISI5 Q75MW0 uc003spe.1 uc003spe.2 uc003spe.3 uc003spe.4 uc003spe.5 uc003spe.6 Has some calmodulin-like activity with respect to enzyme activation and growth regulation. Binds two calcium ions. Belongs to the parvalbumin family. Contains 2 EF-hand domains. calcium ion binding nucleus cytoplasm metal ion binding  uc003spe.1 uc003spe.2 uc003spe.3 uc003spe.4 uc003spe.5 uc003spe.6 
ENST00000242108.9 EEPD1 ENST00000242108.9 Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. (from RefSeq NM_030636) EEPD1_HUMAN ENST00000242108.1 ENST00000242108.2 ENST00000242108.3 ENST00000242108.4 ENST00000242108.5 ENST00000242108.6 ENST00000242108.7 ENST00000242108.8 KIAA1706 NM_030636 Q7L9B9 Q96K64 Q9C0F7 uc003tfa.1 uc003tfa.2 uc003tfa.3 uc003tfa.4 uc003tfa.5 Contains 1 HhH domain. Sequence=BAB21797.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; DNA binding DNA repair  uc003tfa.1 uc003tfa.2 uc003tfa.3 uc003tfa.4 uc003tfa.5 
ENST00000242109.5 KIAA0087 ENST00000242109.5 Homo sapiens KIAA0087 lncRNA (KIAA0087), long non-coding RNA. (from RefSeq NR_022006) ENST00000242109.1 ENST00000242109.2 ENST00000242109.3 ENST00000242109.4 NR_022006 uc003sya.1 uc003sya.2 uc003sya.3  uc003sya.1 uc003sya.2 uc003sya.3 
ENST00000242140.10 WIPF3 ENST00000242140.10 Homo sapiens WAS/WASL interacting protein family member 3 (WIPF3), mRNA. (from RefSeq NM_001080529) A6NGB9 CR16 ENST00000242140.1 ENST00000242140.2 ENST00000242140.3 ENST00000242140.4 ENST00000242140.5 ENST00000242140.6 ENST00000242140.7 ENST00000242140.8 ENST00000242140.9 NM_001080529 WIPF3_HUMAN uc022aaz.1 uc022aaz.2 May be a regulator of cytoskeletal organization. May have a role in spermatogenesis (By similarity). Interacts with WASL, and monomeric and filamentous actin (By similarity). Cytoplasm. Note=In hippocampal neurons colocalizes with WASL in the cell body, axons and the growth cone (By similarity). The WH2 domain is found in a number of putative actin- binding proteins (By similarity). The profilin-binding motif has been implicated in the interaction with profilin and SH3 domains (By similarity). The KLKR motif is essential for G-actin binding and for actin polymerization (By similarity). Belongs to the verprolin family. Contains 1 WH2 domain. actin cortical patch assembly actin binding cytoplasm cytosol actin filament endocytosis multicellular organism development spermatogenesis SH3 domain binding actin filament-based movement cell differentiation actin cortical patch Fc-gamma receptor signaling pathway involved in phagocytosis actin filament binding actin cortical patch localization  uc022aaz.1 uc022aaz.2 
ENST00000242152.7 NPY ENST00000242152.7 Homo sapiens neuropeptide Y (NPY), mRNA. (from RefSeq NM_000905) ENST00000242152.1 ENST00000242152.2 ENST00000242152.3 ENST00000242152.4 ENST00000242152.5 ENST00000242152.6 NM_000905 NPY_HUMAN P01303 uc003sww.1 uc003sww.2 uc003sww.3 uc003sww.4 This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA330523.1, BC029497.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242152.7/ ENSP00000242152.2 Protein has antimicrobial activity :: PMID: 9756788 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## NPY is implicated in the control of feeding and in secretion of gonadotrophin-release hormone. Secreted. One of the most abundant peptides in the nervous system. Also found in some chromaffin cells of the adrenal medulla. Belongs to the NPY family. Name=Wikipedia; Note=Neuropeptide Y entry; URL="http://en.wikipedia.org/wiki/Neuropeptide_Y"; G-protein coupled receptor binding response to yeast G-protein coupled receptor activity receptor binding hormone activity neuropeptide hormone activity calcium channel regulator activity extracellular region extracellular space cell cytoplasm Golgi apparatus G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger neuropeptide signaling pathway chemical synaptic transmission feeding behavior regulation of blood pressure adult feeding behavior antibacterial humoral response antifungal humoral response central nervous system neuron development cerebral cortex development neuron projection development neuropeptide Y receptor binding positive regulation of appetite innate immune response defense response to Gram-negative bacterium defense response to Gram-positive bacterium intestinal epithelial cell differentiation  uc003sww.1 uc003sww.2 uc003sww.3 uc003sww.4 
ENST00000242159.5 HOXA7 ENST00000242159.5 Homo sapiens homeobox A7 (HOXA7), mRNA. (from RefSeq NM_006896) A4D191 ENST00000242159.1 ENST00000242159.2 ENST00000242159.3 ENST00000242159.4 HOX1A HXA7_HUMAN NM_006896 O43368 O43486 O95655 P31268 Q9NSC8 Q9UDM1 uc003sys.1 uc003sys.2 uc003sys.3 uc003sys.4 uc003sys.5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.1100454.1, SRR1803614.291174.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242159.5/ ENSP00000242159.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis negative regulation of cell-matrix adhesion negative regulation of leukocyte migration DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development transcription factor binding anterior/posterior pattern specification nuclear membrane sequence-specific DNA binding negative regulation of keratinocyte differentiation negative regulation of monocyte differentiation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis stem cell differentiation  uc003sys.1 uc003sys.2 uc003sys.3 uc003sys.4 uc003sys.5 
ENST00000242208.5 INHBA ENST00000242208.5 Homo sapiens inhibin subunit beta A (INHBA), mRNA. (from RefSeq NM_002192) ENST00000242208.1 ENST00000242208.2 ENST00000242208.3 ENST00000242208.4 INHBA_HUMAN NM_002192 P08476 Q14599 uc003thr.1 uc003thr.2 uc003thr.3 uc003thr.4 uc003thr.5 This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.577620.1, BC007858.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2149398 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242208.5/ ENSP00000242208.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Dimeric, linked by one or more disulfide bonds. Inhibin A is a dimer of alpha and beta-A. Inhibin B is a dimer of alpha and beta-B. Activin A is a homodimer of beta-A. Activin B is a homodimer of beta-B. Activin AB is a dimer of beta-A and beta-B. Interacts with FST and FSTL3. Secreted. Belongs to the TGF-beta family. Name=Wikipedia; Note=Activin entry; URL="http://en.wikipedia.org/wiki/Activin"; G1/S transition of mitotic cell cycle ovarian follicle development mesoderm formation hair follicle development hematopoietic progenitor cell differentiation receptor binding cytokine activity transforming growth factor beta receptor binding hormone activity protein binding extracellular region extracellular space regulation of transcription from RNA polymerase II promoter defense response cell cycle arrest cell surface receptor signaling pathway cell-cell signaling nervous system development growth factor activity negative regulation of cell proliferation male gonad development positive regulation of gene expression positive regulation of pathway-restricted SMAD protein phosphorylation peptide hormone binding striatal medium spiny neuron differentiation cell differentiation erythrocyte differentiation negative regulation of cell growth positive regulation of cellular protein metabolic process activin receptor signaling pathway inhibin binding endodermal cell differentiation negative regulation of phosphorylation odontogenesis response to drug hemoglobin biosynthetic process progesterone secretion identical protein binding regulation of apoptotic process regulation of MAPK cascade activin A complex inhibin A complex negative regulation of interferon-gamma biosynthetic process negative regulation of B cell differentiation positive regulation of erythrocyte differentiation negative regulation of macrophage differentiation negative regulation of cell cycle positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of follicle-stimulating hormone secretion positive regulation of follicle-stimulating hormone secretion negative regulation of follicle-stimulating hormone secretion protein heterodimerization activity mesodermal cell differentiation cell development perinuclear region of cytoplasm palate development positive regulation of ovulation SMAD protein signal transduction eyelid development in camera-type eye type II activin receptor binding cellular response to follicle-stimulating hormone stimulus cellular response to cholesterol GABAergic neuron differentiation extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway in absence of ligand response to wounding  uc003thr.1 uc003thr.2 uc003thr.3 uc003thr.4 uc003thr.5 
ENST00000242209.9 FKBP9 ENST00000242209.9 Homo sapiens FKBP prolyl isomerase 9 (FKBP9), transcript variant 1, mRNA. (from RefSeq NM_007270) B3KY35 ENST00000242209.1 ENST00000242209.2 ENST00000242209.3 ENST00000242209.4 ENST00000242209.5 ENST00000242209.6 ENST00000242209.7 ENST00000242209.8 FKBP60 FKBP63 FKBP9_HUMAN NM_007270 O95302 Q2M2A1 Q3MIR7 Q6IN76 Q6P2N1 Q96EX5 Q96IJ9 uc003tdh.1 uc003tdh.2 uc003tdh.3 uc003tdh.4 uc003tdh.5 uc003tdh.6 PPIases accelerate the folding of proteins during protein synthesis. Peptidylproline (omega=180) = peptidylproline (omega=0). Inhibited by FK506 (By similarity). Endoplasmic reticulum (By similarity). Phosphorylated (By similarity). Contains 2 EF-hand domains. Contains 4 PPIase FKBP-type domains. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding endoplasmic reticulum protein folding isomerase activity metal ion binding  uc003tdh.1 uc003tdh.2 uc003tdh.3 uc003tdh.4 uc003tdh.5 uc003tdh.6 
ENST00000242248.10 POLM ENST00000242248.10 Homo sapiens DNA polymerase mu (POLM), transcript variant 6, non-coding RNA. (from RefSeq NR_156112) D3DVK4 DPOLM_HUMAN ENST00000242248.1 ENST00000242248.2 ENST00000242248.3 ENST00000242248.4 ENST00000242248.5 ENST00000242248.6 ENST00000242248.7 ENST00000242248.8 ENST00000242248.9 NR_156112 Q9NP87 polmu uc003tjt.1 uc003tjt.2 uc003tjt.3 uc003tjt.4 uc003tjt.5 uc003tjt.6 Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Magnesium (By similarity). Nucleus (By similarity). Expressed in a number of tissues. Abundant in thymus. DPOLM has a reduced ability to distinguish dNTP and rNTP as substrates, and elongates them on DNA primer strand with a similar efficiency. It is able to polymerize nucleotides on RNA primer strands. Belongs to the DNA polymerase type-X family. Contains 1 BRCT domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/polm/"; DNA binding DNA-directed DNA polymerase activity protein binding nucleus nucleoplasm DNA repair base-excision repair double-strand break repair via nonhomologous end joining DNA recombination cellular response to DNA damage stimulus somatic hypermutation of immunoglobulin genes transferase activity nucleotidyltransferase activity B cell differentiation DNA polymerase activity metal ion binding DNA biosynthetic process  uc003tjt.1 uc003tjt.2 uc003tjt.3 uc003tjt.4 uc003tjt.5 uc003tjt.6 
ENST00000242249.8 RAMP3 ENST00000242249.8 Homo sapiens receptor activity modifying protein 3 (RAMP3), mRNA. (from RefSeq NM_005856) ENST00000242249.1 ENST00000242249.2 ENST00000242249.3 ENST00000242249.4 ENST00000242249.5 ENST00000242249.6 ENST00000242249.7 NM_005856 O60896 Q7Z2Y1 RAMP3_HUMAN uc003tnb.1 uc003tnb.2 uc003tnb.3 uc003tnb.4 The protein encoded by this gene is a member of the RAMP family of single-transmembrane-domain proteins, called receptor (calcitonin) activity modifying proteins (RAMPs). RAMPs are type I transmembrane proteins with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) protein, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.309688.1, SRR5189667.82182.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242249.8/ ENSP00000242249.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. Heterodimer of CALCRL and RAMP3 (By similarity). Membrane; Single-pass type I membrane protein. Strongly expressed in lung, breast, immune system and fetal tissues. Belongs to the RAMP family. angiogenesis beta-amyloid binding adrenomedullin receptor activity positive regulation of receptor recycling protein binding cell lysosome plasma membrane integral component of plasma membrane calcium ion transport intracellular protein transport G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway regulation of G-protein coupled receptor protein signaling pathway cell surface positive regulation of gene expression positive regulation of protein kinase A signaling positive regulation of cell death coreceptor activity protein transport membrane integral component of membrane receptor internalization cellular response to hormone stimulus positive regulation of peptidyl-serine phosphorylation cross-receptor inhibition within G-protein coupled receptor heterodimer receptor complex positive regulation of protein kinase B signaling positive regulation of ERK1 and ERK2 cascade cellular response to estradiol stimulus protein localization to plasma membrane G-protein coupled receptor signaling pathway involved in heart process amylin receptor signaling pathway positive regulation of protein localization to plasma membrane adrenomedullin receptor complex response to beta-amyloid positive regulation of calcium ion import across plasma membrane adrenomedullin receptor signaling pathway amylin receptor activity  uc003tnb.1 uc003tnb.2 uc003tnb.3 uc003tnb.4 
ENST00000242257.14 MRM2 ENST00000242257.14 Homo sapiens mitochondrial rRNA methyltransferase 2 (MRM2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_013393) ENST00000242257.1 ENST00000242257.10 ENST00000242257.11 ENST00000242257.12 ENST00000242257.13 ENST00000242257.2 ENST00000242257.3 ENST00000242257.4 ENST00000242257.5 ENST00000242257.6 ENST00000242257.7 ENST00000242257.8 ENST00000242257.9 NM_013393 V9HWJ9 uc003slm.1 uc003slm.2 uc003slm.3 uc003slm.4 uc003slm.5 The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EU794658.1, AF093415.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000242257.14/ ENSP00000242257.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc003slm.1 uc003slm.2 uc003slm.3 uc003slm.4 uc003slm.5 
ENST00000242261.6 TWIST1 ENST00000242261.6 Homo sapiens twist family bHLH transcription factor 1 (TWIST1), transcript variant 1, mRNA. (from RefSeq NM_000474) A4D128 BHLHA38 ENST00000242261.1 ENST00000242261.2 ENST00000242261.3 ENST00000242261.4 ENST00000242261.5 NM_000474 Q15672 Q92487 Q99804 TWIST TWST1_HUMAN uc003sum.1 uc003sum.2 uc003sum.3 uc003sum.4 This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X99268.1, BC036704.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2467147 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242261.6/ ENSP00000242261.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed (By similarity). P15036:ETS2; NbExp=2; IntAct=EBI-1797287, EBI-1646991; Q92831:KAT2B; NbExp=2; IntAct=EBI-1797287, EBI-477430; P04637:TP53; NbExp=6; IntAct=EBI-1797287, EBI-366083; Nucleus. Subset of mesodermal cells. Defects in TWIST1 are a cause of Saethre-Chotzen syndrome (SCS) [MIM:101400]; also known as acrocephalosyndactyly type 3 (ACS3). SCS is a craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. Defects in TWIST1 are the cause of Robinow-Sorauf syndrome (RSS) [MIM:180750]; also known as craniosynostosis-bifid hallux syndrome. RSS is an autosomal dominant defect characterized by minor skull and limb anomalies which is very similar to Saethre-Chotzen syndrome. Defects in TWIST1 are the cause of craniosynostosis type 1 (CRS1) [MIM:123100]. Craniosynostosis consists of premature fusion of one or more cranial sutures, resulting in an abnormal head shape. Contains 1 bHLH (basic helix-loop-helix) domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TWIST1"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding ossification osteoblast differentiation in utero embryonic development neuron migration neural tube closure aortic valve morphogenesis mitral valve morphogenesis endocardial cushion morphogenesis cardiac neural crest cell migration involved in outflow tract morphogenesis DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm multicellular organism development muscle organ development transcription factor binding positive regulation of gene expression positive regulation of epithelial to mesenchymal transition negative regulation of phosphatidylinositol 3-kinase signaling cytokine-mediated signaling pathway protein domain specific binding cell differentiation embryonic limb morphogenesis regulation of bone mineralization positive regulation of fatty acid beta-oxidation negative regulation of tumor necrosis factor production positive regulation of tumor necrosis factor production negative regulation of histone phosphorylation negative regulation of histone acetylation embryonic forelimb morphogenesis embryonic hindlimb morphogenesis hindlimb morphogenesis negative regulation of peroxisome proliferator activated receptor signaling pathway outer ear morphogenesis odontogenesis embryonic digit morphogenesis protein homodimerization activity negative regulation of apoptotic process bHLH transcription factor binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of DNA damage response, signal transduction by p53 class mediator negative regulation of molecular function negative regulation of cell differentiation negative regulation of osteoblast differentiation positive regulation of angiogenesis negative regulation of striated muscle tissue development negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity rhythmic process negative regulation of skeletal muscle tissue development embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis positive regulation of epithelial cell proliferation palate development bone development cranial suture morphogenesis embryonic camera-type eye formation eyelid development in camera-type eye cardiac neural crest cell development involved in outflow tract morphogenesis E-box binding cellular response to growth factor stimulus cellular response to hypoxia positive regulation of monocyte chemotactic protein-1 production positive regulation of DNA-templated transcription, initiation positive regulation of cell motility negative regulation of oxidative phosphorylation uncoupler activity positive regulation of transcription regulatory region DNA binding negative regulation of cellular senescence positive regulation of interleukin-6 secretion negative regulation of double-strand break repair cell proliferation involved in heart valve development positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation  uc003sum.1 uc003sum.2 uc003sum.3 uc003sum.4 
ENST00000242275.7 SLC25A51 ENST00000242275.7 Homo sapiens solute carrier family 25 member 51 (SLC25A51), transcript variant 1, mRNA. (from RefSeq NM_033412) ENST00000242275.1 ENST00000242275.2 ENST00000242275.3 ENST00000242275.4 ENST00000242275.5 ENST00000242275.6 MCART1 NM_033412 Q9H1U9 S2551_HUMAN uc004aav.1 uc004aav.2 uc004aav.3 uc004aav.4 Mitochondrion inner membrane; Multi-pass membrane protein (Potential). Belongs to the mitochondrial carrier family. Contains 3 Solcar repeats. mitochondrion mitochondrial inner membrane membrane integral component of membrane  uc004aav.1 uc004aav.2 uc004aav.3 uc004aav.4 
ENST00000242285.11 CLTA ENST00000242285.11 Homo sapiens clathrin light chain A (CLTA), transcript variant 2, mRNA. (from RefSeq NM_007096) A8K4W3 B4DIN1 CLCA_HUMAN ENST00000242285.1 ENST00000242285.10 ENST00000242285.2 ENST00000242285.3 ENST00000242285.4 ENST00000242285.5 ENST00000242285.6 ENST00000242285.7 ENST00000242285.8 ENST00000242285.9 NM_007096 P09496 Q2XPN5 Q53XZ1 uc003zzc.1 uc003zzc.2 uc003zzc.3 uc003zzc.4 uc003zzc.5 Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010]. Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Clathrin coats are formed from molecules containing 3 heavy chains and 3 light chains. Interacts with CALY; the interaction stimulates clathrin self-assembly and clathrin- mediated endocytosis. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic face of coated pits and vesicles. Event=Alternative splicing; Named isoforms=4; Name=Brain; IsoId=P09496-1; Sequence=Displayed; Name=Non-brain; IsoId=P09496-2; Sequence=VSP_001095; Name=3; IsoId=P09496-3; Sequence=VSP_024238; Name=4; IsoId=P09496-4; Sequence=VSP_043239; Note=No experimental confirmation available; Belongs to the clathrin light chain family. molecular_function structural molecule activity protein binding cytoplasm spindle cytosol cytoskeleton plasma membrane clathrin-coated pit intracellular protein transport endocytosis cell cycle membrane vesicle-mediated transport antigen processing and presentation of exogenous peptide antigen via MHC class II clathrin coat clathrin vesicle coat clathrin coat of trans-Golgi network vesicle clathrin coat of coated pit clathrin-coated vesicle cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle clathrin heavy chain binding trans-Golgi network membrane low-density lipoprotein particle receptor catabolic process low-density lipoprotein particle clearance endolysosome membrane peptide binding macromolecular complex binding clathrin-coated endocytic vesicle clathrin coat assembly GTPase binding cell division membrane organization clathrin complex clathrin-dependent endocytosis presynaptic endocytic zone membrane postsynaptic endocytic zone cytoplasmic component  uc003zzc.1 uc003zzc.2 uc003zzc.3 uc003zzc.4 uc003zzc.5 
ENST00000242310.4 TAF1L ENST00000242310.4 Homo sapiens TATA-box binding protein associated factor 1 like (TAF1L), mRNA. (from RefSeq NM_153809) ENST00000242310.1 ENST00000242310.2 ENST00000242310.3 NM_153809 Q0VG57 Q8IZX4 TAF1L_HUMAN uc003zrg.1 This locus is intronless, and apparently arose in the primate lineage from retrotransposition of the transcript from the multi-exon TAF1 locus on the X chromosome. The gene is expressed in male germ cells, and the product has been shown to function interchangeably with the TAF1 product. [provided by RefSeq, Aug 2015]. ##Evidence-Data-START## Transcript is intronless :: AF390562.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242310.4/ ENSP00000418379.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced. Can bind directly to TATA-box binding protein (TBP). Interacts (via bromo domains) with acetylated lysine residues on the N-terminus of histone H1.4, H2A, H2B, H3 and H4 (in vitro). Nucleus (By similarity). Testis specific, expressed apparently in germ cells. Belongs to the TAF1 family. Contains 2 bromo domains. DNA binding histone acetyltransferase activity protein serine/threonine kinase activity cellular_component nucleus nucleoplasm transcription factor TFIID complex DNA-templated transcription, initiation regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein phosphorylation cell cycle male meiosis histone acetylation TBP-class protein binding sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter lysine-acetylated histone binding regulation of signal transduction by p53 class mediator  uc003zrg.1 
ENST00000242315.4 PHF24 ENST00000242315.4 Homo sapiens PHD finger protein 24 (PHF24), transcript variant 4, non-coding RNA. (from RefSeq NR_136308) B7Z253 ENST00000242315.1 ENST00000242315.2 ENST00000242315.3 K1045_HUMAN KIAA1045 NR_136308 Q58FE9 Q5T662 Q9UPV7 uc003zvr.1 uc003zvr.2 uc003zvr.3 uc003zvr.4 uc003zvr.5 Contains 1 PHD-type zinc finger. Sequence=BAA82997.1; Type=Erroneous initiation; gamma-aminobutyric acid signaling pathway regulation of G-protein coupled receptor protein signaling pathway regulation of synaptic transmission, GABAergic metal ion binding detection of mechanical stimulus involved in sensory perception of pain  uc003zvr.1 uc003zvr.2 uc003zvr.3 uc003zvr.4 uc003zvr.5 
ENST00000242317.9 DNAI1 ENST00000242317.9 Homo sapiens dynein axonemal intermediate chain 1 (DNAI1), transcript variant 1, mRNA. (from RefSeq NM_012144) DNAI1_HUMAN ENST00000242317.1 ENST00000242317.2 ENST00000242317.3 ENST00000242317.4 ENST00000242317.5 ENST00000242317.6 ENST00000242317.7 ENST00000242317.8 NM_012144 Q5T8G7 Q8NHQ7 Q9UEZ8 Q9UI46 uc003zum.1 uc003zum.2 uc003zum.3 uc003zum.4 uc003zum.5 uc003zum.6 This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Part of the dynein complex of respiratory cilia. Consists of at least two heavy chains and a number of intermediate and light chains. Cytoplasm, cytoskeleton, cilium axoneme. Defects in DNAI1 are the cause of primary ciliary dyskinesia type 1 (CILD1) [MIM:244400]. CILD1 is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Defects in DNAI1 are the cause of Kartagener syndrome (KTGS) [MIM:244400]. KTGS is an autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). Belongs to the dynein intermediate chain family. Contains 5 WD repeats. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DNAI1"; cilium movement motor activity protein binding cytoplasm cytoskeleton microtubule cilium microtubule-based movement determination of left/right symmetry cell projection organization dynein complex flagellated sperm motility outer dynein arm outer dynein arm assembly cell projection dynein light chain binding dynein heavy chain binding ATP-dependent microtubule motor activity, plus-end-directed  uc003zum.1 uc003zum.2 uc003zum.3 uc003zum.4 uc003zum.5 uc003zum.6 
ENST00000242323.8 DCAF10 ENST00000242323.8 Homo sapiens DDB1 and CUL4 associated factor 10 (DCAF10), transcript variant 2, mRNA. (from RefSeq NM_001286810) A0A0A0MQT4 ENST00000242323.1 ENST00000242323.2 ENST00000242323.3 ENST00000242323.4 ENST00000242323.5 ENST00000242323.6 ENST00000242323.7 NM_001286810 uc010mlz.1 uc010mlz.2 uc010mlz.3 uc010mlz.4  uc010mlz.1 uc010mlz.2 uc010mlz.3 uc010mlz.4 
ENST00000242351.10 ZC3HAV1 ENST00000242351.10 Homo sapiens zinc finger CCCH-type containing, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. (from RefSeq NM_020119) A4D1R2 A4D1S4 ENST00000242351.1 ENST00000242351.2 ENST00000242351.3 ENST00000242351.4 ENST00000242351.5 ENST00000242351.6 ENST00000242351.7 ENST00000242351.8 ENST00000242351.9 NM_020119 PRO1677 Q7Z2W4 Q8IW57 Q8TAJ3 Q96N79 Q9H8R9 Q9P0Y7 ZC3HDC2 ZCCHV_HUMAN uc003vun.1 uc003vun.2 uc003vun.3 uc003vun.4 uc003vun.5 This gene encodes a CCCH-type zinc finger protein that is thought to prevent infection by retroviruses. Studies of the rat homolog indicate that the protein may primarily function to inhibit viral gene expression and induce an innate immunity to viral infection. Alternative splicing occurs at this locus and two variants, each encoding distinct isoforms, are described. [provided by RefSeq, Jul 2008]. Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)- specific ribonuclease PARN to remove the poly(A) tail, and the 3'- 5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5'-end. Its target viruses belong to families which include retroviridae: human immunodeficiency virus type 1 (HIV-1), moloney and murine leukemia virus (MoMLV) and xenotropic MuLV-related virus (XMRV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), togaviridae: sindbis virus (SINV) and Ross river virus (RRV). Specifically targets the multiply spliced but not unspliced or singly spliced HIV-1 mRNAs for degradation. Isoform 1 is a more potent viral inhibitor than isoform 2. Isoform 2 acts as a positive regulator of DDX58/RIG-I signaling resulting in activation of the downstream effector IRF3 leading to the expression of type I IFNs and IFN stimulated genes (ISGs). Temperature dependence: Thermostable; Homodimer or homooligomer. Homooligomerization is essential for its antiviral activity. Interacts with EXOSC5 (By similarity). Interacts (via N-terminal domain) with DDX17 in an RNA-independent manner (By similarity). Interacts with EXOSC3, EXOSC7, DCP2 and DCP1A. Interacts with PARN in an RNA-independent manner. Interacts with XRN1 in an RNA-dependent manner. Isoform 2 interacts (via zinc-fingers) with DDX58/RIG-I in an RNA-dependent manner. Interacts (via N-terminal domain) with DHX30 (via N- terminus) in an RNA-independent manner. O95786:DDX58; NbExp=3; IntAct=EBI-922540, EBI-995350; Isoform 1: Cytoplasm. Nucleus. Note=Localizes in the cytoplasm at steady state, but shuttles between nucleus and cytoplasm in a XPO1-dependent manner (By similarity). Isoform 2: Cytoplasm. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=ZAPL; IsoId=Q7Z2W4-1; Sequence=Displayed; Name=2; Synonyms=ZAPS; IsoId=Q7Z2W4-2; Sequence=VSP_010269; Note=No experimental confirmation available; Name=3; IsoId=Q7Z2W4-3; Sequence=VSP_010270, VSP_010271; Note=No experimental confirmation available; Name=4; IsoId=Q7Z2W4-4; Sequence=VSP_010268; Note=No experimental confirmation available; Name=5; IsoId=Q7Z2W4-5; Sequence=VSP_010268, VSP_010269; Note=No experimental confirmation available; By type I interferon (IFN) and viruses. Isoform 2 is up-regulated by 3'-PPP-RNA. The N-terminal domain is sufficient to bind to viral RNAs and promote their degradation. The second and fourth zinc fingers are involved in binding to specific viral RNAs. Phosphorylation at Ser-275 is essential for sequential phosphorylation of Ser-271, Ser-267, Ser-263 and Ser-257 by GSK3- beta. Phosphorylation by GSK3-beta enhances its antiviral activity (By similarity). Contains 4 C3H1-type zinc fingers. Contains 1 PARP catalytic domain. Contains 1 WWE domain. immune system process RNA binding protein binding nucleus cytoplasm cytosol protein ADP-ribosylation response to virus positive regulation of interferon-alpha production positive regulation of interferon-beta production positive regulation of I-kappaB kinase/NF-kappaB signaling negative regulation of viral genome replication innate immune response cadherin binding metal ion binding defense response to virus positive regulation of mRNA catabolic process positive regulation of RIG-I signaling pathway NAD+ ADP-ribosyltransferase activity protein poly-ADP-ribosylation NAD+ binding protein ADP-ribosylase activity  uc003vun.1 uc003vun.2 uc003vun.3 uc003vun.4 uc003vun.5 
ENST00000242375.8 AKR1D1 ENST00000242375.8 Homo sapiens aldo-keto reductase family 1 member D1 (AKR1D1), transcript variant 1, mRNA. (from RefSeq NM_005989) A1L4P6 A8K060 AK1D1_HUMAN B4DPN3 B4DPN8 ENST00000242375.1 ENST00000242375.2 ENST00000242375.3 ENST00000242375.4 ENST00000242375.5 ENST00000242375.6 ENST00000242375.7 NM_005989 P51857 SRD5B1 uc003vtz.1 uc003vtz.2 uc003vtz.3 uc003vtz.4 uc003vtz.5 The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]. Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates. 5-beta-cholestan-3-one + NADP(+) = cholest-4- en-3-one + NADPH. 17,21-dihydroxy-5-beta-pregnane-3,11,20-trione + NADP(+) = cortisone. Subject to inhibition by high substrate concentrations. Inhibited by testosterone concentrations above 10 uM. Kinetic parameters: KM=2.7 uM for testosterone; Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P51857-1; Sequence=Displayed; Name=2; IsoId=P51857-2; Sequence=VSP_042901; Note=No experimental confirmation available; Name=3; IsoId=P51857-3; Sequence=VSP_042913; Note=No experimental confirmation available; Highly expressed in liver. Expressed in testis and weakly in colon. Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2) [MIM:235555]; also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. Belongs to the aldo/keto reductase family. alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity steroid binding cytoplasm cytosol lipid metabolic process bile acid biosynthetic process cholesterol catabolic process digestion alcohol dehydrogenase (NADP+) activity steroid metabolic process C21-steroid hormone metabolic process androgen metabolic process lipid catabolic process steroid dehydrogenase activity oxidoreductase activity bile acid catabolic process ketosteroid monooxygenase activity delta4-3-oxosteroid 5beta-reductase activity oxidation-reduction process  uc003vtz.1 uc003vtz.2 uc003vtz.3 uc003vtz.4 uc003vtz.5 
ENST00000242462.5 NEUROG3 ENST00000242462.5 Homo sapiens neurogenin 3 (NEUROG3), mRNA. (from RefSeq NM_020999) ATOH5 BHLHA7 ENST00000242462.1 ENST00000242462.2 ENST00000242462.3 ENST00000242462.4 NGN3 NGN3_HUMAN NM_020999 Q5VVI0 Q6DJX6 Q9BY24 Q9Y4Z2 uc001jpp.1 uc001jpp.2 uc001jpp.3 uc001jpp.4 uc001jpp.5 The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069098.1, AK313952.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242462.5/ ENSP00000242462.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Acts as a transcriptional regulator. Together with NKX2- 2, initiates transcriptional activation of NEUROD1. Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types (By similarity). Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Nucleus (Potential). Defects in NEUROG3 are the cause of diarrhea type 4 (DIAR4) [MIM:610370]. DIAR4 is a characterized by severe, life- threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated multicellular organism development nervous system development central nervous system development peripheral nervous system development spinal cord development neurogenesis cell differentiation epithelial cell differentiation forebrain development hindbrain development endocrine pancreas development chromatin DNA binding positive regulation of cell differentiation positive regulation of neuron differentiation positive regulation of transcription from RNA polymerase II promoter protein dimerization activity regulation of dendrite morphogenesis positive regulation of sequence-specific DNA binding transcription factor activity transdifferentiation  uc001jpp.1 uc001jpp.2 uc001jpp.3 uc001jpp.4 uc001jpp.5 
ENST00000242465.4 SRGN ENST00000242465.4 Homo sapiens serglycin (SRGN), transcript variant 1, mRNA. (from RefSeq NM_002727) B2R4L7 ENST00000242465.1 ENST00000242465.2 ENST00000242465.3 NM_002727 P10124 PRG PRG1 Q5VW06 SRGN_HUMAN uc001joz.1 uc001joz.2 uc001joz.3 uc001joz.4 uc001joz.5 This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]. Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF- alpha and may also regulate protease secretion. Inhibits bone mineralization. Binds to activated CD44 and to GZMB. P10144:GZMB; NbExp=2; IntAct=EBI-744915, EBI-2505785; Cytoplasmic granule (By similarity). Secreted, extracellular space. Golgi apparatus. Note=Found in mast cell granules and in cytoplasmic granules of cytolytic T lymphocytes from where it is secreted upon cell activation. Secreted constitutively by endothelial cells and macrophages. Located to Golgi apparatus during neutrophil differentiation. By Epstein-Barr virus (EBV). O-glycosylated; contains chondroitin sulfate and heparan sulfate (By similarity). Belongs to the serglycin family. platelet degranulation protein binding extracellular region extracellular space Golgi apparatus apoptotic process granzyme-mediated apoptotic signaling pathway protein processing negative regulation of bone mineralization platelet alpha granule lumen biomineral tissue development mast cell secretory granule organization T cell secretory granule organization maintenance of protease location in mast cell secretory granule maintenance of granzyme B location in T cell secretory granule mast cell granule negative regulation of cytokine secretion  uc001joz.1 uc001joz.2 uc001joz.3 uc001joz.4 uc001joz.5 
ENST00000242480.4 EGR2 ENST00000242480.4 Homo sapiens early growth response 2 (EGR2), transcript variant 1, mRNA. (from RefSeq NM_000399) B2R724 B3KRD7 EGR2_HUMAN ENST00000242480.1 ENST00000242480.2 ENST00000242480.3 KROX20 NM_000399 P11161 Q68CZ5 Q8IV26 Q9UNA6 uc001jmi.1 uc001jmi.2 uc001jmi.3 uc001jmi.4 uc001jmi.5 The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]. Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4. E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 own transcriptional activity. Protein modification; protein sumoylation. Interacts with HCFC1. Interacts with WWP2. Interacts with UBC9. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P11161-1; Sequence=Displayed; Name=Short; IsoId=P11161-2; Sequence=VSP_006863; Note=No experimental confirmation available; Ubiquitinated by WWP2 leading to proteasomal degradation (By similarity). Defects in EGR2 are a cause of congenital hypomyelination neuropathy (CHN) [MIM:605253]. Inheritance can be autosomal dominant or recessive. Recessive CHN is also known as Charcot- Marie-Tooth disease type 4E (CMT4E). CHN is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. Defects in EGR2 are a cause of Charcot-Marie-Tooth disease type 1D (CMT1D) [MIM:607678]. CMT1D is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Defects in EGR2 are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Belongs to the EGR C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. Sequence=AAA52372.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA52372.1; Type=Frameshift; Positions=449; Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EGR2"; nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter protein export from nucleus brain development peripheral nervous system development learning or memory rhythmic behavior motor neuron axon guidance Schwann cell differentiation transferase activity protein sumoylation rhombomere 3 development facial nerve structural organization rhombomere 3 formation rhombomere 5 formation regulation of ossification ubiquitin protein ligase binding response to insulin brain segmentation skeletal muscle cell differentiation myelination intracellular membrane-bounded organelle transcription regulatory region DNA binding fat cell differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding regulation of neuronal synaptic plasticity SUMO ligase activity cellular response to organic substance HMG box domain binding  uc001jmi.1 uc001jmi.2 uc001jmi.3 uc001jmi.4 uc001jmi.5 
ENST00000242505.11 FAM149B1 ENST00000242505.11 Homo sapiens family with sequence similarity 149 member B1 (FAM149B1), mRNA. (from RefSeq NM_173348) ENST00000242505.1 ENST00000242505.10 ENST00000242505.2 ENST00000242505.3 ENST00000242505.4 ENST00000242505.5 ENST00000242505.6 ENST00000242505.7 ENST00000242505.8 ENST00000242505.9 F149B_HUMAN KIAA0974 NM_173348 Q96BN6 Q9Y2I0 uc009xqz.1 uc009xqz.2 uc009xqz.3 uc009xqz.4 uc009xqz.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96BN6-1; Sequence=Displayed; Name=2; IsoId=Q96BN6-2; Sequence=VSP_031533, VSP_031534; Note=No experimental confirmation available; Belongs to the FAM149 family. Sequence=AAH15394.1; Type=Erroneous initiation;  uc009xqz.1 uc009xqz.2 uc009xqz.3 uc009xqz.4 uc009xqz.5 
ENST00000242576.7 UNG ENST00000242576.7 Homo sapiens uracil DNA glycosylase (UNG), transcript variant 2, mRNA. (from RefSeq NM_080911) A8K5M6 B2R8Y1 DGU ENST00000242576.1 ENST00000242576.2 ENST00000242576.3 ENST00000242576.4 ENST00000242576.5 ENST00000242576.6 NM_080911 O00637 O00719 P13051 Q93028 UNG1 UNG15 UNG_HUMAN uc001tnz.1 uc001tnz.2 uc001tnz.3 uc001tnz.4 This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]. Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine. Hydrolyzes single-stranded DNA or mismatched double-stranded DNA and polynucleotides, releasing free uracil. Monomer. Interacts with HIV-1 Vpr. Interacts with FAM72A. Isoform 1: Mitochondrion. Isoform 2: Nucleus. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=UNG2; IsoId=P13051-1; Sequence=Displayed; Name=1; Synonyms=UNG1; IsoId=P13051-2; Sequence=VSP_008513; Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. Isoform 2 has the highest expression levels in tissues containing proliferating cells. Isoform 1 is processed by cleavage of a transit peptide. Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 (HIGM5) [MIM:608106]. A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. Belongs to the uracil-DNA glycosylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UNG"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ung/"; Name=UNGbase; Note=UNG mutation db; URL="http://bioinf.uta.fi/UNGbase/"; damaged DNA binding uracil DNA N-glycosylase activity protein binding nucleus nucleoplasm mitochondrion DNA repair base-excision repair cellular response to DNA damage stimulus viral process somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments hydrolase activity hydrolase activity, hydrolyzing N-glycosyl compounds ribosomal small subunit binding negative regulation of apoptotic process depyrimidination isotype switching base-excision repair, AP site formation via deaminated base removal  uc001tnz.1 uc001tnz.2 uc001tnz.3 uc001tnz.4 
ENST00000242577.11 DYNLL1 ENST00000242577.11 Homo sapiens dynein light chain LC8-type 1 (DYNLL1), transcript variant 3, mRNA. (from RefSeq NM_003746) DNCL1 ENST00000242577.1 ENST00000242577.10 ENST00000242577.2 ENST00000242577.3 ENST00000242577.4 ENST00000242577.5 ENST00000242577.6 ENST00000242577.7 ENST00000242577.8 ENST00000242577.9 NM_003746 Q6FGH9 Q6FGH9_HUMAN hCG_27767 uc001tyl.1 uc001tyl.2 uc001tyl.3 uc001tyl.4 uc001tyl.5 Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]. motor activity nucleus cytoplasm mitochondrion cytosol cytoskeleton cytoplasmic dynein complex microtubule microtubule associated complex cilium microtubule-based process spermatid development protein C-terminus binding membrane enzyme binding protein domain specific binding secretory granule nitric-oxide synthase regulator activity dynein complex intraciliary retrograde transport positive regulation of insulin secretion involved in cellular response to glucose stimulus protein homodimerization activity motile cilium assembly dynein intermediate chain binding protein heterodimerization activity regulation of catalytic activity scaffold protein binding positive regulation of non-motile cilium assembly axon cytoplasm  uc001tyl.1 uc001tyl.2 uc001tyl.3 uc001tyl.4 uc001tyl.5 
ENST00000242591.10 IFT81 ENST00000242591.10 Homo sapiens intraflagellar transport 81 (IFT81), transcript variant 10, non-coding RNA. (from RefSeq NR_144952) CDV1 ENST00000242591.1 ENST00000242591.2 ENST00000242591.3 ENST00000242591.4 ENST00000242591.5 ENST00000242591.6 ENST00000242591.7 ENST00000242591.8 ENST00000242591.9 IFT81_HUMAN NR_144952 Q2YDY1 Q8NB51 Q8WYA0 Q9BSV2 Q9UNY8 uc001tqh.1 uc001tqh.2 uc001tqh.3 uc001tqh.4 uc001tqh.5 The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.221675.1, SRR1803613.182729.1 [ECO:0000332] ##Evidence-Data-END## Isoform CDV-1 may be involved in cardiac hypertrophy caused by carnitine deficiency (By similarity). Isoform CDV-1R appears to play a role in development of the testis and spermatogenesis (By similarity). Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=CDV-1R; IsoId=Q8WYA0-1; Sequence=Displayed; Name=2; IsoId=Q8WYA0-3; Sequence=VSP_050695, VSP_050696; Note=No experimental confirmation available; Name=CDV-1; IsoId=Q8WYA0-4; Sequence=VSP_018784; Note=Produced by alternative initiation at Met-570 of isoform CDV-1R; Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly expressed in testis. protein binding centrosome cilium spermatogenesis regulation of smoothened signaling pathway tubulin binding cell projection organization intraciliary transport particle B motile cilium intraciliary transport involved in cilium assembly ciliary basal body intraciliary transport cell projection cilium assembly sperm midpiece sperm principal piece ciliary tip  uc001tqh.1 uc001tqh.2 uc001tqh.3 uc001tqh.4 uc001tqh.5 
ENST00000242592.9 ACADS ENST00000242592.9 Homo sapiens acyl-CoA dehydrogenase short chain (ACADS), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000017) ACADS_HUMAN ENST00000242592.1 ENST00000242592.2 ENST00000242592.3 ENST00000242592.4 ENST00000242592.5 ENST00000242592.6 ENST00000242592.7 ENST00000242592.8 NM_000017 P16219 P78331 uc001tza.1 uc001tza.2 uc001tza.3 uc001tza.4 uc001tza.5 uc001tza.6 This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]. Butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer flavoprotein. FAD. Lipid metabolism; mitochondrial fatty acid beta- oxidation. Homotetramer. Mitochondrion matrix. Defects in ACADS are the cause of acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]. It is an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. Belongs to the acyl-CoA dehydrogenase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADS"; Name=Wikipedia; Note=Butyryl-CoA dehydrogenase entry; URL="http://en.wikipedia.org/wiki/Butyryl_CoA_dehydrogenase"; acyl-CoA dehydrogenase activity butyryl-CoA dehydrogenase activity nucleus nucleoplasm mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors fatty acid beta-oxidation using acyl-CoA dehydrogenase butyrate catabolic process flavin adenine dinucleotide binding oxidation-reduction process  uc001tza.1 uc001tza.2 uc001tza.3 uc001tza.4 uc001tza.5 uc001tza.6 
ENST00000242607.13 HVCN1 ENST00000242607.13 Homo sapiens hydrogen voltage gated channel 1 (HVCN1), transcript variant 2, mRNA. (from RefSeq NM_032369) A8MQ37 ENST00000242607.1 ENST00000242607.10 ENST00000242607.11 ENST00000242607.12 ENST00000242607.2 ENST00000242607.3 ENST00000242607.4 ENST00000242607.5 ENST00000242607.6 ENST00000242607.7 ENST00000242607.8 ENST00000242607.9 HVCN1_HUMAN NM_032369 Q6UW11 Q96D96 Q96IS5 UNQ578/PRO1140 VSOP uc001trs.1 uc001trs.2 uc001trs.3 uc001trs.4 This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis. Sensitive to zinc ions and is inhibited by them. Homodimer. Membrane; Multi-pass membrane protein. Note=Associates mainly with intracellular compartment membranes. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96D96-1; Sequence=Displayed; Name=2; IsoId=Q96D96-2; Sequence=VSP_034395; Name=3; IsoId=Q96D96-3; Sequence=VSP_034396; Note=No experimental confirmation available; Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen. The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Unlike other voltage-gated ion channels it lacks the pore domain. The C-terminal coiled coil region mediates homodimerization and is essential for localization. Belongs to the hydrogen channel family. Sequence=AAQ89413.1; Type=Frameshift; Positions=164, 175; ion channel activity voltage-gated ion channel activity plasma membrane integral component of plasma membrane ion transport response to pH response to zinc ion membrane integral component of membrane voltage-gated cation channel activity voltage-gated proton channel activity secretory granule membrane phagocytic vesicle membrane regulation of ion transmembrane transport sperm-egg recognition specific granule membrane identical protein binding neutrophil degranulation cell redox homeostasis transmembrane transport cellular response to zinc ion cellular response to pH hydrogen ion transmembrane transport  uc001trs.1 uc001trs.2 uc001trs.3 uc001trs.4 
ENST00000242719.4 RNF11 ENST00000242719.4 Homo sapiens ring finger protein 11 (RNF11), mRNA. (from RefSeq NM_014372) A8KAI2 CGI-123 ENST00000242719.1 ENST00000242719.2 ENST00000242719.3 NM_014372 Q5T7R8 Q9Y3C5 RNF11_HUMAN uc001csi.1 uc001csi.2 uc001csi.3 uc001csi.4 uc001csi.5 uc001csi.6 The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.213058.1, SRR1660803.151881.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242719.4/ ENSP00000242719.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of TNFAIP3 to RIPK1 after TNF stimulation. TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Recruits STAMBP to the E3 ubiquitin-ligase SMURF2 for ubiquitination, leading to its degradation by the 26S proteasome. Interacts (when phosphorylated) with 14-3-3. Interacts with the E3 ubiquitin-ligases NEDD4, ITCH, SMURF2 and WWP1 (By similarity). Also interacts with the E2 ubiquitin-conjugating enzymes UBE2D1 and UBE2N, but neither with CDC34, nor with UBE2L3. Interacts with ZNF350, EPS15 and STAMBP. After TNF stimulation, interacts with TAX1BP1, TNFAIP3 and RIPK1; these interaction are transient and they are lost after 1 hour of stimulation with TNF (By similarity). Interacts with GGA1. Q9UJY5:GGA1; NbExp=2; IntAct=EBI-396669, EBI-447141; Q96J02:ITCH; NbExp=2; IntAct=EBI-396669, EBI-1564678; Q9HAU4:SMURF2; NbExp=3; IntAct=EBI-396669, EBI-396727; O95630:STAMBP; NbExp=2; IntAct=EBI-396669, EBI-396676; P0CG47:UBB; NbExp=2; IntAct=EBI-396669, EBI-413034; P51668:UBE2D1; NbExp=4; IntAct=EBI-396669, EBI-743540; P62837:UBE2D2; NbExp=4; IntAct=EBI-396669, EBI-347677; P61077:UBE2D3; NbExp=3; IntAct=EBI-396669, EBI-348268; P51965:UBE2E1; NbExp=2; IntAct=EBI-396669, EBI-348546; P61088:UBE2N; NbExp=3; IntAct=EBI-396669, EBI-1052908; Early endosome. Recycling endosome. Cytoplasm. Nucleus. Note=Predominantly cytoplasmic, when unphosphorylated, and nuclear, when phosphorylated by PKB/AKT1 (PubMed:16123141). Expressed at low levels in the lung, liver, kidney, pancreas, spleen, prostate, thymus, ovary, small intestine, colon, and peripheral blood lymphocytes, and, at intermediate levels, in the testis, heart, brain and placenta. Highest expression in the skeletal muscle. In the brain, expressed at different levels in several regions: high levels in the amygdala, moderate in the hippocampus and thalamus, low in the caudate and extremely low levels in the corpus callosum (at protein level). Restricted to neurons, enriched in somatodendritic compartments and excluded from white matter (at protein level). In substantia nigra, present in cell bodies and processes of dopaminergic and nondopaminergic cells (at protein level). In Parkinson disease, sequestered in Lewy bodies and neurites. Overexpressed in breast cancer cells, but not detected in the surrounding stroma and weakly, if at all, in normal breast epithelial cells (at protein level). Also expressed in several tumor cell lines. The WW-binding motif mediates interaction with NEDD4 (By similarity). Ubiquitinated in the presence of ITCH, or SMURF2, and UBE2D1, as well as WWP1. Phosphorylation by PKB/AKT1 may accelerate degradation by the proteasome. May be acylated at Cys-4, possibly palmitoylated. Acylation at both Gly-2 and Cys-4 is required for proper localization to the endosomes. Contains 1 RING-type zinc finger. ubiquitin ligase complex DNA binding ubiquitin-protein transferase activity protein binding nucleus cytoplasm endosome early endosome ubiquitin-dependent protein catabolic process zinc ion binding metal ion binding protein autoubiquitination recycling endosome extracellular exosome  uc001csi.1 uc001csi.2 uc001csi.3 uc001csi.4 uc001csi.5 uc001csi.6 
ENST00000242728.5 BHLHE41 ENST00000242728.5 Homo sapiens basic helix-loop-helix family member e41 (BHLHE41), mRNA. (from RefSeq NM_030762) A2I2N8 BHE41_HUMAN BHLHB3 DEC2 ENST00000242728.1 ENST00000242728.2 ENST00000242728.3 ENST00000242728.4 NM_030762 Q9C0J9 SHARP1 uc001rhb.1 uc001rhb.2 uc001rhb.3 uc001rhb.4 uc001rhb.5 This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB044088.1, BC025968.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000242728.5/ ENSP00000242728.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be a transcriptional repressor that represses both basal and activated transcription. Homodimerize. Nucleus (By similarity). Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney. Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. Contains 1 bHLH (basic helix-loop-helix) domain. Contains 1 Orange domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription corepressor activity protein binding nucleus regulation of transcription, DNA-templated circadian rhythm cell proliferation animal organ morphogenesis anterior/posterior pattern specification negative regulation of myotube differentiation negative regulation of transcription by competitive promoter binding cell differentiation circadian regulation of gene expression protein homodimerization activity histone deacetylase binding bHLH transcription factor binding MRF binding negative regulation of transcription, DNA-templated protein heterodimerization activity protein dimerization activity rhythmic process regulation of neurogenesis E-box binding  uc001rhb.1 uc001rhb.2 uc001rhb.3 uc001rhb.4 uc001rhb.5 
ENST00000242729.7 SSPN ENST00000242729.7 Homo sapiens sarcospan (SSPN), transcript variant 1, mRNA. (from RefSeq NM_005086) ENST00000242729.1 ENST00000242729.2 ENST00000242729.3 ENST00000242729.4 ENST00000242729.5 ENST00000242729.6 KRAG NM_005086 Q14714 SSPN_HUMAN uc001rhe.1 uc001rhe.2 uc001rhe.3 uc001rhe.4 uc001rhe.5 This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]. Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC. Cell membrane; Multi-pass membrane protein (By similarity). Cell membrane, sarcolemma (By similarity). Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein (By similarity). Note=Also found in myotendinous junctions and in the postsynaptic membrane of neuromuscular junctions (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SPN1; IsoId=Q14714-1; Sequence=Displayed; Name=2; Synonyms=SPN2; IsoId=Q14714-2; Sequence=VSP_004431; Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen. plasma membrane integral component of plasma membrane muscle contraction cell adhesion dystrophin-associated glycoprotein complex membrane integral component of membrane cell junction transport vesicle sarcolemma synapse postsynaptic membrane  uc001rhe.1 uc001rhe.2 uc001rhe.3 uc001rhe.4 uc001rhe.5 
ENST00000242737.5 ITPR2 ENST00000242737.5 Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). (from UniProt Q14571) AB012610 ENST00000242737.1 ENST00000242737.2 ENST00000242737.3 ENST00000242737.4 ITPR2_HUMAN O94773 Q14571 uc001rhi.1 uc001rhi.2 Receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. This release is regulated by cAMP both dependently and independently of PKA (By similarity). Homotetramer (By similarity). Interacts with CABP1. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q14571-1; Sequence=Displayed; Name=Short; Synonyms=TIPR; IsoId=Q14571-2; Sequence=VSP_002699, VSP_002700; Isoform Short is found in skeletal muscle and heart. The receptor contains a calcium channel in its C-terminal extremity. Its large N-terminal cytoplasmic region has the ligand- binding site in the N-terminus and modulatory sites in the middle portion immediately upstream of the channel region. Phosphorylation by cAMP-dependent PKA on Ser-937 increases calcium release (By similarity). Calcium appears to inhibit ligand binding to the receptor, most probably by interacting with a distinct calcium- binding protein which then inhibits the receptor. Belongs to the InsP3 receptor family. Contains 5 MIR domains. response to hypoxia ion channel activity inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity calcium channel activity calcium ion binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane plasma membrane cell cortex ion transport calcium ion transport signal transduction calcium ion transmembrane transporter activity calcium-release channel activity membrane integral component of membrane sarcoplasmic reticulum platelet activation cytoplasmic vesicle membrane secretory granule membrane platelet dense tubular network membrane sarcoplasmic reticulum membrane phosphatidylinositol binding receptor complex inositol phosphate-mediated signaling regulation of insulin secretion release of sequestered calcium ion into cytosol transmembrane transport calcium ion transmembrane transport inositol 1,4,5 trisphosphate binding cellular response to cAMP cellular response to ethanol scaffold protein binding regulation of cardiac conduction  uc001rhi.1 uc001rhi.2 
ENST00000242770.9 STX10 ENST00000242770.9 Homo sapiens syntaxin 10 (STX10), transcript variant 2, mRNA. (from RefSeq NM_001271609) ENST00000242770.1 ENST00000242770.2 ENST00000242770.3 ENST00000242770.4 ENST00000242770.5 ENST00000242770.6 ENST00000242770.7 ENST00000242770.8 NM_001271609 X6R2W0 uc002mwn.1 uc002mwn.2 uc002mwn.3 uc002mwn.4 uc002mwn.5 This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012].  uc002mwn.1 uc002mwn.2 uc002mwn.3 uc002mwn.4 uc002mwn.5 
ENST00000242776.9 DDX39A ENST00000242776.9 Homo sapiens DExD-box helicase 39A (DDX39A), transcript variant 1, mRNA. (from RefSeq NM_005804) DDX39 DX39A_HUMAN ENST00000242776.1 ENST00000242776.2 ENST00000242776.3 ENST00000242776.4 ENST00000242776.5 ENST00000242776.6 ENST00000242776.7 ENST00000242776.8 NM_005804 O00148 Q9BVP6 Q9H5W0 uc002myo.1 uc002myo.2 uc002myo.3 uc002myo.4 uc002myo.5 This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]. Involved in pre-mRNA splicing. Required for the export of mRNA out of the nucleus. ATP + H(2)O = ADP + phosphate. Binds ALYREF/THOC4 and DDX39B/BAT1. Interacts with SARNP. Interacts with human cytomegalovirus/HHV-5 protein UL69. Nucleus (By similarity). Detected in testis, and at lower levels in brain, kidney, lung, thymus, spleen and salivary gland. Up-regulated in proliferating cells. Present at low levels in quiescent cells. Belongs to the DEAD box helicase family. DECD subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Sequence=BAB15509.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding transcription export complex mRNA splicing, via spliceosome nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing membrane nuclear speck hydrolase activity ATPase activity mRNA 3'-end processing identical protein binding  uc002myo.1 uc002myo.2 uc002myo.3 uc002myo.4 uc002myo.5 
ENST00000242783.11 PKN1 ENST00000242783.11 Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA. (from RefSeq NM_002741) A8K7W5 B2R9R4 B3KVN3 ENST00000242783.1 ENST00000242783.10 ENST00000242783.2 ENST00000242783.3 ENST00000242783.4 ENST00000242783.5 ENST00000242783.6 ENST00000242783.7 ENST00000242783.8 ENST00000242783.9 NM_002741 PAK1 PKN PKN1_HUMAN PRK1 PRKCL1 Q15143 Q16512 Q504U4 Q8IUV5 Q9UD44 uc002myp.1 uc002myp.2 uc002myp.3 uc002myp.4 uc002myp.5 The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. PKC-related serine/threonine-protein kinase involved in various processes such as regulation of the intermediate filaments of the actin cytoskeleton, cell migration, tumor cell invasion and transcription regulation. Regulates the cytoskeletal network by phosphorylating proteins such as VIM and neurofilament proteins NEFH, NEFL and NEFM, leading to inhibit their polymerization. Phosphorylates 'Ser-575', 'Ser-637' and 'Ser-669' of MAPT/Tau, lowering its ability to bind to microtubules, resulting in disruption of tubulin assembly. Acts as a key coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and specifically mediating phosphorylation of 'Thr-11' of histone H3 (H3T11ph), a specific tag for epigenetic transcriptional activation that promotes demethylation of histone H3 'Lys-9' (H3K9me) by KDM4C/JMJD2C. Phosphorylates HDAC5, HDAC7 and HDAC9, leading to impair their import in the nucleus. Phosphorylates 'Thr-38' of PPP1R14A, 'Ser- 159', 'Ser-163' and 'Ser-170' of MARCKS, and GFAP. Able to phosphorylate RPS6 in vitro. ATP + a protein = ADP + a phosphoprotein. Kinase activity is activated upon binding to Rho proteins (RHOA, RHOB and RAC1). Activated by lipids, particularly cardiolipin and to a lesser extent by other acidic phospholipids. Activated by caspase-3 (CASP3) cleavage during apoptosis. Two specific sites, Thr-774 (activation loop of the kinase domain) and Ser-916 (turn motif), need to be phosphorylated for its full activation. Kinetic parameters: KM=20.6 uM for HDAC5; Interacts with ZA20D3 (By similarity). Interacts with ANDR. Interacts with PRKCB. Interacts (via REM 1 and REM 2 repeats) with RAC1. Interacts (via REM 1 repeat) with RHOA. Interacts with RHOB. In case of infection, interacts with S.typhimurium protein sspH1. Interacts (via C-terminus) with PDPK1. Q15834:CCDC85B; NbExp=2; IntAct=EBI-602382, EBI-739674; P53778:MAPK12; NbExp=2; IntAct=EBI-602382, EBI-602406; Q9NYL2-1:MLTK; NbExp=2; IntAct=EBI-602382, EBI-687346; Cytoplasm. Nucleus. Endosome. Cell membrane; Peripheral membrane protein. Cleavage furrow. Midbody. Note=Associates with chromatin in a ligand-dependent manner. Localization to endosomes is mediated via its interaction with RHOB. Association to the cell membrane is dependent on Ser-374 phosphorylation. Accumulates during telophase at the cleavage furrow and finally concentrates around the midbody in cytokinesis. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16512-1; Sequence=Displayed; Name=2; IsoId=Q16512-2; Sequence=VSP_038143; Note=No experimental confirmation available; Name=3; IsoId=Q16512-3; Sequence=VSP_039213, VSP_039214; Note=No experimental confirmation available; Found ubiquitously. Expressed in heart, brain, placenta, lung, skeletal muscle, kidney and pancreas. Expressed in numerous tumor cell lines, especially in breast tumor cells. The C1 domain does not bind the diacylglycerol (DAG). Autophosphorylated; preferably on serine. Phosphorylated during mitosis. Activated by limited proteolysis with trypsin (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. Contains 1 AGC-kinase C-terminal domain. Contains 1 C2 domain. Contains 1 protein kinase domain. Contains 3 REM (Hr1) repeats. nucleotide binding B cell homeostasis B cell apoptotic process negative regulation of protein phosphorylation regulation of germinal center formation regulation of immunoglobulin production renal system process chromatin binding protein kinase activity protein serine/threonine kinase activity protein kinase C activity protein kinase C binding protein binding ATP binding nucleus nucleoplasm cytoplasm endosome cytosol plasma membrane chromatin organization regulation of transcription from RNA polymerase II promoter protein phosphorylation negative regulation of protein kinase activity hyperosmotic response signal transduction activation of JUN kinase activity epithelial cell migration membrane kinase activity phosphorylation transferase activity GTP-Rho binding peptidyl-serine phosphorylation ligand-dependent nuclear receptor transcription coactivator activity midbody negative regulation of B cell proliferation cytoplasmic vesicle cleavage furrow macromolecular complex histone kinase activity (H3-T11 specific) histone H3-T11 phosphorylation intracellular signal transduction histone binding histone deacetylase binding Rac GTPase binding spleen development androgen receptor binding positive regulation of nucleic acid-templated transcription regulation of cell motility  uc002myp.1 uc002myp.2 uc002myp.3 uc002myp.4 uc002myp.5 
ENST00000242784.5 TRIR ENST00000242784.5 Homo sapiens telomerase RNA component interacting RNase (TRIR), transcript variant 1, mRNA. (from RefSeq NM_024038) C19orf43 CS043_HUMAN ENST00000242784.1 ENST00000242784.2 ENST00000242784.3 ENST00000242784.4 NM_024038 Q9BQ61 uc002muu.1 uc002muu.2 uc002muu.3 uc002muu.4 uc002muu.5 RNA binding nuclease activity exonuclease activity protein binding 3'-5' exonuclease activity 5'-3' exonuclease activity rRNA catabolic process hydrolase activity RNA phosphodiester bond hydrolysis, exonucleolytic  uc002muu.1 uc002muu.2 uc002muu.3 uc002muu.4 uc002muu.5 
ENST00000242786.6 ADGRE5 ENST00000242786.6 Homo sapiens adhesion G protein-coupled receptor E5 (ADGRE5), transcript variant 1, mRNA. (from RefSeq NM_078481) A8K7Z4 B2RBJ9 CD97 CD97_HUMAN ENST00000242786.1 ENST00000242786.2 ENST00000242786.3 ENST00000242786.4 ENST00000242786.5 NM_078481 O00718 O76101 P48960 Q8NG72 Q8TBQ7 uc002myl.1 uc002myl.2 uc002myl.3 uc002myl.4 uc002myl.5 This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]. Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity). Forms a heterodimer, consisting of a large extracellular region (alpha subunit) non-covalently linked to a seven- transmembrane moiety (beta subunit). Interacts with complement decay-accelerating factor (DAF). The largest isoform (isoform 1) interacts with chondroitin sulfate. Cell membrane; Multi-pass membrane protein. CD97 antigen subunit alpha: Secreted, extracellular space. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=EGF(1,2,3,4,5); IsoId=P48960-1; Sequence=Displayed; Name=2; Synonyms=EGF(1,2,5); IsoId=P48960-2; Sequence=VSP_009411; Name=3; Synonyms=EGF(1,2,3,5); IsoId=P48960-3; Sequence=VSP_009412; Broadly expressed, found on most hematopoietic cells, including activated lymphocytes, monocytes, macrophages, dendritic cells, and granulocytes. Expressed also abundantly by smooth muscle cells. Expressed in thyroid, colorectal, gastric, esophageal and pancreatic carcinomas too. Expression are increased under inflammatory conditions in the CNS of multiple sclerosis and in synovial tissue of patients with rheumatoid arthritis. Increased expression of CD97 in the synovium is accompagnied by detectable levels of soluble CD97 in the synovial fluid. Rapid up-regulation during lymphocyte activation. The first two EGF domains mediate the interaction with DAF. A third tandemly arranged EGF domain is necessary for the structural integrity of the binding region. Binding to chondroitin sulfate is mediated by the fourth EGF domain. Proteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane subunit (By similarity). Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. Contains 5 EGF-like domains. Contains 1 GPS domain. Sequence=AAC27673.1; Type=Erroneous gene model prediction; Sequence=BAC06178.1; Type=Erroneous gene model prediction; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CD97ID996ch19p13.html"; transmembrane signaling receptor activity G-protein coupled receptor activity calcium ion binding protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane focal adhesion inflammatory response immune response cell adhesion signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway cell-cell signaling membrane integral component of membrane secretory granule membrane neutrophil degranulation extracellular exosome  uc002myl.1 uc002myl.2 uc002myl.3 uc002myl.4 uc002myl.5 
ENST00000242804.9 ZNF442 ENST00000242804.9 Homo sapiens zinc finger protein 442 (ZNF442), transcript variant 1, mRNA. (from RefSeq NM_030824) ENST00000242804.1 ENST00000242804.2 ENST00000242804.3 ENST00000242804.4 ENST00000242804.5 ENST00000242804.6 ENST00000242804.7 ENST00000242804.8 NM_030824 Q9H7R0 ZN442_HUMAN uc002mtr.1 uc002mtr.2 uc002mtr.3 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 16 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002mtr.1 uc002mtr.2 uc002mtr.3 
ENST00000242810.11 KLHL24 ENST00000242810.11 Homo sapiens kelch like family member 24 (KLHL24), transcript variant 20, non-coding RNA. (from RefSeq NR_146170) A5PLN8 DRE1 ENST00000242810.1 ENST00000242810.10 ENST00000242810.2 ENST00000242810.3 ENST00000242810.4 ENST00000242810.5 ENST00000242810.6 ENST00000242810.7 ENST00000242810.8 ENST00000242810.9 KLH24_HUMAN NR_146170 Q6TFL4 Q9H620 Q9NXT9 uc003flv.1 uc003flv.2 uc003flv.3 uc003flv.4 uc003flv.5 The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.581672.1, SRR1803615.93310.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity). Forms homodimers. Interacts with GRIK2 (By similarity). Perikaryon. Cell projection, axon (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6TFL4-1; Sequence=Displayed; Name=2; IsoId=Q6TFL4-2; Sequence=VSP_028644, VSP_028645; Note=No experimental confirmation available; Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. Sequence=BAA90921.1; Type=Erroneous initiation; Sequence=BAB15447.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; protein binding cytoplasm adherens junction protein ubiquitination cell junction desmosome axon Cul3-RING ubiquitin ligase complex cell projection perikaryon intermediate filament organization protein autoubiquitination regulation of kainate selective glutamate receptor activity  uc003flv.1 uc003flv.2 uc003flv.3 uc003flv.4 uc003flv.5 
ENST00000242819.7 CCDC70 ENST00000242819.7 Homo sapiens coiled-coil domain containing 70 (CCDC70), transcript variant 2, mRNA. (from RefSeq NM_031290) CCD70_HUMAN ENST00000242819.1 ENST00000242819.2 ENST00000242819.3 ENST00000242819.4 ENST00000242819.5 ENST00000242819.6 NM_031290 Q6NSX1 Q8N7A8 Q9H097 uc001vfu.1 uc001vfu.2 uc001vfu.3 uc001vfu.4 uc001vfu.5 uc001vfu.6 uc001vfu.7 Secreted (Potential). It is uncertain whether Met-1 or Met-12 is the initiator. protein binding extracellular region plasma membrane  uc001vfu.1 uc001vfu.2 uc001vfu.3 uc001vfu.4 uc001vfu.5 uc001vfu.6 uc001vfu.7 
ENST00000242827.11 EBPL ENST00000242827.11 Homo sapiens EBP like (EBPL), transcript variant 1, mRNA. (from RefSeq NM_032565) A6NJ59 EBPL_HUMAN EBRP ENST00000242827.1 ENST00000242827.10 ENST00000242827.2 ENST00000242827.3 ENST00000242827.4 ENST00000242827.5 ENST00000242827.6 ENST00000242827.7 ENST00000242827.8 ENST00000242827.9 ERP NM_032565 Q569H7 Q5JVN2 Q5JVN3 Q5JVN4 Q5JVN5 Q5JVN6 Q9BY08 uc001vdg.1 uc001vdg.2 uc001vdg.3 uc001vdg.4 uc001vdg.5 uc001vdg.6 Does not possess sterol isomerase activity and does not bind sigma ligands. Homodimer. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9BY08-1; Sequence=Displayed; Name=2; IsoId=Q9BY08-2; Sequence=VSP_035418, VSP_035425; Note=No experimental confirmation available; Name=3; IsoId=Q9BY08-3; Sequence=VSP_035417, VSP_035422; Note=No experimental confirmation available; Name=4; IsoId=Q9BY08-4; Sequence=VSP_035419, VSP_035421; Note=No experimental confirmation available; Name=5; IsoId=Q9BY08-5; Sequence=VSP_035420, VSP_035423, VSP_035424; Note=No experimental confirmation available; Widely expressed with highest levels in liver, lung and kidney. Belongs to the EBP family. endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane sterol metabolic process cholestenol delta-isomerase activity  uc001vdg.1 uc001vdg.2 uc001vdg.3 uc001vdg.4 uc001vdg.5 uc001vdg.6 
ENST00000242839.10 ATP7B ENST00000242839.10 Homo sapiens ATPase copper transporting beta (ATP7B), transcript variant 1, mRNA. (from RefSeq NM_000053) ATP7B_HUMAN ENST00000242839.1 ENST00000242839.2 ENST00000242839.3 ENST00000242839.4 ENST00000242839.5 ENST00000242839.6 ENST00000242839.7 ENST00000242839.8 ENST00000242839.9 NM_000053 P35670 PWD Q16318 Q16319 Q4U3V3 Q59FJ9 Q5T7X7 WC1 WND uc001vfw.1 uc001vfw.2 uc001vfw.3 uc001vfw.4 uc001vfw.5 This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]. Involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. ATP + H(2)O + Cu(2+)(In) = ADP + phosphate + Cu(2+)(Out). Monomer. Interacts with COMMD1/MURR1. Interacts with DCTN4, in a copper-dependent manner. Interacts with ATOX1. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein (By similarity). Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels. Isoform 2: Cytoplasm. WND/140 kDa: Mitochondrion. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=P35670-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P35670-2; Sequence=VSP_000426, VSP_000427; Name=3; IsoId=P35670-3; Sequence=VSP_016559; Name=4; IsoId=P35670-4; Sequence=VSP_016560; Note=No experimental confirmation available; Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues. Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule. Isoform 1 may be proteolytically cleaved at the N-terminus to produce the WND/140 kDa form. Defects in ATP7B are the cause of Wilson disease (WD) [MIM:277900]. WD is an autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. Contains 6 HMA domains. Sequence=AAA16173.1; Type=Frameshift; Positions=830; Sequence=AAA79211.1; Type=Frameshift; Positions=456; Sequence=AAA79212.1; Type=Frameshift; Positions=456; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP7B"; Name=Wilson Disease Mutation Database; URL="http://www.medicalgenetics.med.ualberta.ca/wilson/index.php"; Golgi membrane nucleotide binding copper ion transmembrane transporter activity copper ion binding protein binding ATP binding cytoplasm mitochondrion endosome late endosome Golgi apparatus trans-Golgi network integral component of plasma membrane ion transport cation transport copper ion transport cellular copper ion homeostasis cellular zinc ion homeostasis lactation copper ion import intracellular copper ion transport membrane integral component of membrane cation-transporting ATPase activity metal ion transport trans-Golgi network membrane ion transmembrane transport copper-transporting ATPase activity response to copper ion metal ion binding perinuclear region of cytoplasm sequestering of calcium ion copper ion export divalent inorganic cation transport basolateral plasma membrane cytoplasmic vesicle  uc001vfw.1 uc001vfw.2 uc001vfw.3 uc001vfw.4 uc001vfw.5 
ENST00000242848.8 ZC3H13 ENST00000242848.8 Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), transcript variant 16, non-coding RNA. (from RefSeq NR_167893) A2A323 ENST00000242848.1 ENST00000242848.2 ENST00000242848.3 ENST00000242848.4 ENST00000242848.5 ENST00000242848.6 ENST00000242848.7 KIAA0853 NR_167893 O94936 Q5T1Z9 Q5T200 Q7Z7J3 Q8NDT6 Q9H0L6 ZC3HD_HUMAN uc010tfw.1 uc010tfw.2 Q9P0W5:SCHIP1; NbExp=2; IntAct=EBI-2679720, EBI-1397509; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5T200-1; Sequence=Displayed; Note=Gene prediction confirmed by EST data; Name=2; IsoId=Q5T200-2; Sequence=VSP_027202, VSP_014252, VSP_014253; Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 1 C3H1-type zinc finger. RNA binding protein binding nucleus nucleoplasm mRNA processing multicellular organism development RNA splicing nuclear speck MIS complex metal ion binding mRNA methylation regulation of stem cell population maintenance  uc010tfw.1 uc010tfw.2 
ENST00000242872.7 CENPK ENST00000242872.7 Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with CASC5/KNL1 to recruit the NDC80 complex to the outer kinetochore. (from UniProt Q9BS16) BC008504 CENPK_HUMAN ENST00000242872.1 ENST00000242872.2 ENST00000242872.3 ENST00000242872.4 ENST00000242872.5 ENST00000242872.6 FKSG14 ICEN37 Q9BS16 Q9H4L0 uc063dzl.1 Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Acts in coordination with CASC5/KNL1 to recruit the NDC80 complex to the outer kinetochore. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and MLF1IP/CENPU. Interacts directly with CENPH. Nucleus. Chromosome, centromere. Chromosome, centromere, kinetochore. Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex. Detected in several fetal organs with highest levels in fetal liver. In adults, it is weakly expressed in lung and placenta. Note=Chromosomal aberrations involving CENPK are a cause of acute leukemias. Translocation t(5;11)(q12;q23) with MLL. Belongs to the CENPK family. mitotic sister chromatid segregation chromosome, centromeric region kinetochore condensed chromosome kinetochore condensed nuclear chromosome inner kinetochore protein binding nucleus nucleoplasm chromosome cytosol CENP-A containing nucleosome assembly kinetochore assembly  uc063dzl.1 
ENST00000242994.4 NEUROD4 ENST00000242994.4 Homo sapiens neuronal differentiation 4 (NEUROD4), mRNA. (from RefSeq NM_021191) ATH3 ATOH3 B2RAC9 BHLHA4 ENST00000242994.1 ENST00000242994.2 ENST00000242994.3 NDF4_HUMAN NM_021191 Q9HD90 uc001sgp.1 uc001sgp.2 uc001sgp.3 uc001sgp.4 uc001sgp.5 uc001sgp.6 Probably acts as a transcriptional activator. Mediates neuronal differentiation. Required for the regulation of amacrine cell fate specification in the retina (By similarity). Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Nucleus (Potential). Serine or threonine phosphorylation within the basic region may regulate neurogenic activity (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding neuron migration DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter Notch signaling pathway multicellular organism development nervous system development neuroblast proliferation glial cell differentiation cell differentiation amacrine cell differentiation camera-type eye development cell fate commitment positive regulation of cell differentiation protein dimerization activity neuron development retina development in camera-type eye  uc001sgp.1 uc001sgp.2 uc001sgp.3 uc001sgp.4 uc001sgp.5 uc001sgp.6 
ENST00000243040.10 PFDN5 ENST00000243040.10 Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC. (from UniProt Q99471) A8K9A8 AB055804 ENST00000243040.1 ENST00000243040.2 ENST00000243040.3 ENST00000243040.4 ENST00000243040.5 ENST00000243040.6 ENST00000243040.7 ENST00000243040.8 ENST00000243040.9 MM1 PFD5 PFD5_HUMAN Q54AA8 Q99471 Q9C083 Q9C084 uc058ony.1 Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins. Represses the transcriptional activity of MYC. Heterohexamer of two PFD-alpha type and four PFD-beta type subunits. Binds to MYC; interacts with its N-terminal domain. Q9DUN1:vIRF-3 (xeno); NbExp=8; IntAct=EBI-357275, EBI-1647907; Isoform 1: Nucleus. Isoform 2: Cytoplasm. Isoform 3: Nucleus. Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist; Name=1; Synonyms=MM1-alpha; IsoId=Q99471-1; Sequence=Displayed; Name=2; Synonyms=MM1-beta; IsoId=Q99471-2; Sequence=VSP_043104; Note=Does not repress transcription activity of MYC; Name=3; Synonyms=MM1-gamma; IsoId=Q99471-3; Sequence=VSP_043103; Highly expressed in pancreas and skeletal muscle and moderately in other tissues. Belongs to the prefoldin subunit alpha family. Sequence=BAA14006.1; Type=Erroneous initiation; transcription corepressor activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated protein folding prefoldin complex negative regulation of transcription, DNA-templated unfolded protein binding retina development in camera-type eye negative regulation of canonical Wnt signaling pathway  uc058ony.1 
ENST00000243045.10 ORMDL2 ENST00000243045.10 Homo sapiens ORMDL sphingolipid biosynthesis regulator 2 (ORMDL2), mRNA. (from RefSeq NM_014182) B2RA58 ENST00000243045.1 ENST00000243045.2 ENST00000243045.3 ENST00000243045.4 ENST00000243045.5 ENST00000243045.6 ENST00000243045.7 ENST00000243045.8 ENST00000243045.9 HSPC160 MSTP095 NM_014182 ORML2_HUMAN Q53FV1 Q7Z4E5 Q8NFX0 Q9P004 uc001shw.1 uc001shw.2 uc001shw.3 Negative regulator of sphingolipid synthesis. Endoplasmic reticulum membrane; Multi-pass membrane protein. Widely expressed. Expressed in adult and fetal heart, brain, lung, liver, skeletal muscle and kidney. Expressed in adult pancreas and placenta and in fetal spleen abd thymus. Belongs to the ORM family. endoplasmic reticulum endoplasmic reticulum membrane ceramide metabolic process membrane integral component of membrane SPOTS complex negative regulation of sphingolipid biosynthetic process cellular sphingolipid homeostasis negative regulation of ceramide biosynthetic process  uc001shw.1 uc001shw.2 uc001shw.3 
ENST00000243050.5 NR4A1 ENST00000243050.5 Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'- AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. (from UniProt P22736) B4DML7 BC016147 ENST00000243050.1 ENST00000243050.2 ENST00000243050.3 ENST00000243050.4 GFRP1 HMR NAK1 NR4A1_HUMAN P22736 uc001rzs.1 uc001rzs.2 uc001rzs.3 uc001rzs.4 Orphan nuclear receptor. May act concomitantly with NURR1 in regulating the expression of delayed-early genes during liver regeneration. Binds the NGFI-B response element (NBRE) 5'- AAAAGGTCA-3' (By similarity). May inhibit NF-kappa-B transactivation of IL2. Binds DNA as a monomer (By similarity). Interacts with GADD45GIP1. Q9P2G1:ANKIB1; NbExp=2; IntAct=EBI-721550, EBI-2687890; P10415:BCL2; NbExp=7; IntAct=EBI-721550, EBI-77694; O60888:CUTA; NbExp=2; IntAct=EBI-721550, EBI-1051556; P32189:GK; NbExp=3; IntAct=EBI-721550, EBI-3926629; P43243:MATR3; NbExp=2; IntAct=EBI-721550, EBI-352602; P40763:STAT3; NbExp=3; IntAct=EBI-721550, EBI-518675; P04350:TUBB4A; NbExp=2; IntAct=EBI-721550, EBI-355007; P50552:VASP; NbExp=2; IntAct=EBI-721550, EBI-748201; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22736-1; Sequence=Displayed; Name=2; IsoId=P22736-2; Sequence=VSP_043086; Note=No experimental confirmation available; Fetal muscle and adult liver, brain and thyroid. By growth-stimulating agents. Phosphorylated at Ser-351 by RPS6KA1 and RPS6KA3 in response to mitogenic or stress stimuli. Belongs to the nuclear hormone receptor family. NR4 subfamily. Contains 1 nuclear receptor DNA-binding domain. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding positive regulation of endothelial cell proliferation cell migration involved in sprouting angiogenesis DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm mitochondrion cytosol regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter signal transduction zinc ion binding intracellular receptor signaling pathway nuclear membrane glucocorticoid receptor binding endothelial cell chemotaxis cellular response to vascular endothelial growth factor stimulus steroid hormone mediated signaling pathway sequence-specific DNA binding cellular response to fibroblast growth factor stimulus fat cell differentiation negative regulation of cell cycle positive regulation of transcription from RNA polymerase II promoter metal ion binding protein heterodimerization activity regulation of type B pancreatic cell proliferation cellular response to corticotropin-releasing hormone stimulus  uc001rzs.1 uc001rzs.2 uc001rzs.3 uc001rzs.4 
ENST00000243052.8 PDE1B ENST00000243052.8 Homo sapiens phosphodiesterase 1B (PDE1B), transcript variant 1, mRNA. (from RefSeq NM_000924) ENST00000243052.1 ENST00000243052.2 ENST00000243052.3 ENST00000243052.4 ENST00000243052.5 ENST00000243052.6 ENST00000243052.7 NM_000924 PDE1B1 PDE1B_HUMAN PDES1B Q01064 Q92825 Q96KP3 uc001sgd.1 uc001sgd.2 uc001sgd.3 uc001sgd.4 The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]. Cyclic nucleotide phosphodiesterase with a dual- specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Has a preference for cGMP as a substrate. Nucleoside 3',5'-cyclic phosphate + H(2)O = nucleoside 5'-phosphate. Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions. Type I PDE are activated by the binding of calmodulin in the presence of Ca(2+). Homodimer (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=PDE1B1; IsoId=Q01064-1; Sequence=Displayed; Name=PDE1B2; IsoId=Q01064-2; Sequence=VSP_038643, VSP_038644; Belongs to the cyclic nucleotide phosphodiesterase family. PDE1 subfamily. regulation of neurotransmitter levels response to amphetamine cyclic-nucleotide phosphodiesterase activity 3',5'-cyclic-nucleotide phosphodiesterase activity 3',5'-cyclic-AMP phosphodiesterase activity calmodulin-dependent cyclic-nucleotide phosphodiesterase activity protein binding calmodulin binding cytoplasm cytosol apoptotic process signal transduction G-protein coupled receptor signaling pathway locomotory behavior phosphoric diester hydrolase activity visual learning hydrolase activity monocyte differentiation cellular response to macrophage colony-stimulating factor stimulus regulation of dopamine metabolic process serotonin metabolic process neuronal cell body metal ion binding 3',5'-cyclic-GMP phosphodiesterase activity calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity cellular response to granulocyte macrophage colony-stimulating factor stimulus  uc001sgd.1 uc001sgd.2 uc001sgd.3 uc001sgd.4 
ENST00000243056.5 HOXC13 ENST00000243056.5 Homo sapiens homeobox C13 (HOXC13), mRNA. (from RefSeq NM_017410) ENST00000243056.1 ENST00000243056.2 ENST00000243056.3 ENST00000243056.4 HOX3G HXC13_HUMAN NM_017410 P31276 Q5BL02 Q96J32 Q9NR24 Q9NYD5 uc001sei.1 uc001sei.2 uc001sei.3 uc001sei.4 uc001sei.5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC090850.1, SRR5189658.196826.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243056.5/ ENSP00000243056.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity). P32519:ELF1; NbExp=3; IntAct=EBI-2293590, EBI-765526; Nucleus. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding hair follicle development DNA binding chromatin binding protein binding nucleus regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis anterior/posterior pattern specification nail development sequence-specific DNA binding tongue morphogenesis positive regulation of transcription from RNA polymerase II promoter  uc001sei.1 uc001sei.2 uc001sei.3 uc001sei.4 uc001sei.5 
ENST00000243077.8 LRP1 ENST00000243077.8 Homo sapiens LDL receptor related protein 1 (LRP1), mRNA. (from RefSeq NM_002332) A2MR APR ENST00000243077.1 ENST00000243077.2 ENST00000243077.3 ENST00000243077.4 ENST00000243077.5 ENST00000243077.6 ENST00000243077.7 LRP1_HUMAN NM_002332 Q07954 Q2PP12 Q8IVG8 uc001snd.1 uc001snd.2 uc001snd.3 uc001snd.4 uc001snd.5 This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X13916.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243077.8/ ENSP00000243077.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Endocytic receptor involved in endocytosis and in phagocytosis of apoptotic cells. Required for early embryonic development. Involved in cellular lipid homeostasis. Involved in the plasma clearance of chylomicron remnants and activated LRPAP1 (alpha 2-macroglobulin), as well as the local metabolism of complexes between plasminogen activators and their endogenous inhibitors. May modulate cellular events, such as APP metabolism, kinase-dependent intracellular signaling, neuronal calcium signaling as well as neurotransmission. Functions as a receptor for Pseudomonas aeruginosa exotoxin A. Heterodimer of an 85-kDa membrane-bound carboxyl subunit and a non-covalently attached 515-kDa N-terminal subunit. Intracellular domain interacts with MAFB (By similarity). Found in a complex with PID1/PCLI1, LRP1 and CUBNI. Interacts with SNX17, PID1/PCLI1, PDGF and CUBN. The intracellular domain interacts with SHC1, GULP1 and DAB1. Interacts with LRPAP1. Can weakly interact (via NPXY motif) with DAB2 (via PID domain); the interaction is enhanced by tyrosine phosphorylation of the NPXY motif. Interacts with bacterial exotoxins. Q63722:Jag1 (xeno); NbExp=4; IntAct=EBI-1046087, EBI-4567800; Q03350:Thbs2 (xeno); NbExp=2; IntAct=EBI-1046087, EBI-4567830; Low-density lipoprotein receptor-related protein 1 85 kDa subunit: Cell membrane; Single-pass type I membrane protein. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 515 kDa subunit: Cell membrane; Peripheral membrane protein; Extracellular side. Membrane, coated pit. Low-density lipoprotein receptor-related protein 1 intracellular domain: Cytoplasm. Nucleus. Note=After cleavage, the intracellular domain (LRPICD) is detected both in the cytoplasm and in the nucleus. Most abundant in liver, brain and lung. Cleaved into a 85 kDa membrane-spanning subunit (LRP-85) and a 515 kDa large extracellular domain (LRP-515) that remains non- covalently associated. Gamma-secretase-dependent cleavage of LRP- 85 releases the intracellular domain from the membrane. The N-terminus is blocked. Phosphorylated on serine and threonine residues. Phosphorylated on tyrosine residues upon stimulation with PDGF. Tyrosine phosphorylation promotes interaction with SHC1. Belongs to the LDLR family. Contains 22 EGF-like domains. Contains 31 LDL-receptor class A domains. Contains 34 LDL-receptor class B repeats. retinoid metabolic process beta-amyloid binding protease binding astrocyte activation involved in immune response RNA binding low-density lipoprotein receptor activity scavenger receptor activity calcium ion binding protein binding nucleus cytoplasm lysosomal membrane endosome early endosome plasma membrane integral component of plasma membrane clathrin-coated pit focal adhesion lipid metabolic process endocytosis receptor-mediated endocytosis phagocytosis lysosomal transport positive regulation of cytosolic calcium ion concentration protein kinase C-activating G-protein coupled receptor signaling pathway multicellular organism development aging cell proliferation regulation of extracellular matrix disassembly negative regulation of cell-substrate adhesion positive regulation of cholesterol efflux positive regulation of cell death positive regulation of neuron projection development negative regulation of neuron projection development negative regulation of smooth muscle cell migration coreceptor activity membrane integral component of membrane basolateral plasma membrane alpha-2 macroglobulin receptor activity cerebral cortex development clathrin-coated vesicle negative regulation of Wnt signaling pathway apolipoprotein receptor activity dendrite endocytic vesicle membrane receptor internalization clathrin heavy chain binding positive regulation of protein binding positive regulation of lipid transport regulation of cholesterol transport regulation of phospholipase A2 activity insulin-responsive compartment regulation of actin cytoskeleton organization apolipoprotein binding positive regulation of insulin secretion involved in cellular response to glucose stimulus aorta morphogenesis signaling receptor activity cargo receptor activity lipoprotein metabolic process lipoprotein transport neuronal cell body negative regulation of apoptotic process receptor complex apoptotic cell clearance heparan sulfate proteoglycan binding negative regulation of neuron apoptotic process cellular lipid catabolic process axonal growth cone macromolecular complex binding transcytosis apical part of cell positive regulation of axon extension positive regulation of endocytosis metal ion binding positive regulation of axon extension involved in regeneration positive regulation of collateral sprouting of injured axon positive regulation of phagocytosis positive regulation of protein transport negative regulation of cytosolic calcium ion concentration negative regulation of focal adhesion assembly negative regulation of cell death chemoattraction of axon lipoprotein particle receptor binding positive regulation of ERK1 and ERK2 cascade beta-amyloid clearance plasma membrane protein complex positive regulation of Schwann cell migration positive regulation of beta-amyloid clearance positive regulation of protein localization to plasma membrane positive regulation of cholesterol import positive regulation of chemokine (C-C motif) ligand 2 secretion cellular response to beta-amyloid positive regulation of vascular associated smooth muscle cell migration negative regulation of metallopeptidase activity positive regulation of lysosomal protein catabolic process negative regulation of platelet-derived growth factor receptor-beta signaling pathway  uc001snd.1 uc001snd.2 uc001snd.3 uc001snd.4 uc001snd.5 
ENST00000243082.4 HOXC11 ENST00000243082.4 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt J3KMZ0) BC001543 ENST00000243082.1 ENST00000243082.2 ENST00000243082.3 J3KMZ0 J3KMZ0_HUMAN uc058otp.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleoplasm cytosol  uc058otp.1 
ENST00000243103.4 HOXC12 ENST00000243103.4 Homo sapiens homeobox C12 (HOXC12), mRNA. (from RefSeq NM_173860) ENST00000243103.1 ENST00000243103.2 ENST00000243103.3 HOC3F HOX3F HXC12_HUMAN NM_173860 P31275 Q9BXJ6 uc010soq.1 uc010soq.2 uc010soq.3 uc010soq.4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243103.4/ ENSP00000243103.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development sequence-specific DNA binding  uc010soq.1 uc010soq.2 uc010soq.3 uc010soq.4 
ENST00000243108.5 HOXC6 ENST00000243108.5 Homo sapiens homeobox C6 (HOXC6), transcript variant 1, mRNA. (from RefSeq NM_004503) B2RBV2 ENST00000243108.1 ENST00000243108.2 ENST00000243108.3 ENST00000243108.4 HOX3C HXC6_HUMAN NM_004503 P09630 Q6DK09 uc001sev.1 uc001sev.2 uc001sev.3 uc001sev.4 uc001sev.5 This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5' non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P09630-1; Sequence=Displayed; Name=2; IsoId=P09630-2; Sequence=VSP_002392; Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity nucleus nucleoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development anterior/posterior pattern specification sequence-specific DNA binding embryonic skeletal system development negative regulation of nucleic acid-templated transcription  uc001sev.1 uc001sev.2 uc001sev.3 uc001sev.4 uc001sev.5 
ENST00000243112.9 SMUG1 ENST00000243112.9 Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 28, mRNA. (from RefSeq NM_001351258) A8K2K9 ENST00000243112.1 ENST00000243112.2 ENST00000243112.3 ENST00000243112.4 ENST00000243112.5 ENST00000243112.6 ENST00000243112.7 ENST00000243112.8 NM_001351258 O95862 Q0D2M0 Q53HV7 Q8NB71 Q9BWC8 SMUG1_HUMAN uc001sfd.1 uc001sfd.2 uc001sfd.3 uc001sfd.4 uc001sfd.5 This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.331971.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## Responsible for recognizing base lesions in the genome and initiating base excision DNA repair. Acts as a monofunctional DNA glycosylase specific for uracil (U) residues in DNA and has a preference for single-stranded DNA substrates. The activity is greater against mismatches (U/G) than against matches (U/A). Excised uracil (U), 5-formyluracil (fU) and uracil derivatives bearing an oxidized group at C5 [5-hydroxyuracil (hoU) and 5- hydroxymethyluracil (hmU)] in ssDNA and dsDNA but not analogous cytosine derivatives (5-hydroxycytosine and 5-formylcytosine) and other oxidized damage. The activity is damage specificity and salt concentration-dependent. The general order of the preference for ssDNA and dsDNA is the following: ssDNA > dsDNA (G pair) = dsDNA (A pair) at the low salt concentration. At the high concentration dsDNA (G pair) > dsDNA (A pair) > ssDNA. Q93062:RBPMS; NbExp=2; IntAct=EBI-749970, EBI-740322; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53HV7-1; Sequence=Displayed; Name=2; IsoId=Q53HV7-2; Sequence=VSP_015150, VSP_015151; Note=No experimental confirmation available; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/smug1/"; oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity DNA binding uracil DNA N-glycosylase activity protein binding nucleus nucleoplasm nucleolus DNA repair base-excision repair cellular response to DNA damage stimulus hydrolase activity single-strand selective uracil DNA N-glycosylase activity DNA N-glycosylase activity depyrimidination  uc001sfd.1 uc001sfd.2 uc001sfd.3 uc001sfd.4 uc001sfd.5 
ENST00000243152.5 TYRL ENST00000243152.5 tyrosinase-like (pseudogene) (from HGNC TYRL) ENST00000243152.1 ENST00000243152.2 ENST00000243152.3 ENST00000243152.4 uc286hcj.1  uc286hcj.1 
ENST00000243167.9 FAAH ENST00000243167.9 Homo sapiens fatty acid amide hydrolase (FAAH), mRNA. (from RefSeq NM_001441) D3DQ19 ENST00000243167.1 ENST00000243167.2 ENST00000243167.3 ENST00000243167.4 ENST00000243167.5 ENST00000243167.6 ENST00000243167.7 ENST00000243167.8 FAAH1 FAAH1_HUMAN NM_001441 O00519 Q52M86 Q5TDF8 uc001cpu.1 uc001cpu.2 uc001cpu.3 uc001cpu.4 This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U82535.1, SRR1803614.46089.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243167.9/ ENSP00000243167.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. Anandamide + H(2)O = arachidonic acid + ethanolamine. Oleamide + H(2)O = oleic acid + NH(3). Inhibited by O-aryl carbamates and alpha-keto heterocytes. Homodimer (By similarity). Endomembrane system; Single-pass membrane protein. Cytoplasm, cytoskeleton. Note=Seems to be attached to intracellular membranes and a portion of the cytoskeletal network. Highly expressed in the brain, small intestine, pancreas, skeletal muscle and testis. Also expressed in the kidney, liver, lung, placenta and prostate. Variant Thr-129 seems to be strongly associated with illegal drug use and dependence. This variant displays normal catalytic properties but an enhanced sensitivity to proteolytic degradation. Belongs to the amidase family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/faah/"; amidase activity protein binding cytoplasm endoplasmic reticulum membrane cytoskeleton fatty acid catabolic process endomembrane system membrane integral component of membrane hydrolase activity fatty acid amide hydrolase activity arachidonic acid metabolic process organelle membrane acylglycerol lipase activity monoacylglycerol catabolic process oleamide hydrolase activity anandamide amidohydrolase activity  uc001cpu.1 uc001cpu.2 uc001cpu.3 uc001cpu.4 
ENST00000243189.12 RSRP1 ENST00000243189.12 Homo sapiens arginine and serine rich protein 1 (RSRP1), transcript variant 2, mRNA. (from RefSeq NM_020317) A8K917 C1orf63 CA063_HUMAN ENST00000243189.1 ENST00000243189.10 ENST00000243189.11 ENST00000243189.2 ENST00000243189.3 ENST00000243189.4 ENST00000243189.5 ENST00000243189.6 ENST00000243189.7 ENST00000243189.8 ENST00000243189.9 HT033 NM_020317 NPD014 Q49AA4 Q5TH71 Q9BUV0 Q9GZP6 uc001bjw.1 uc001bjw.2 uc001bjw.3 uc001bjw.4 uc001bjw.5 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BUV0-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=Q9BUV0-2; Sequence=VSP_027305; Name=3; IsoId=Q9BUV0-3; Sequence=VSP_027306, VSP_027307; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Belongs to the UPF0471 family. protein binding  uc001bjw.1 uc001bjw.2 uc001bjw.3 uc001bjw.4 uc001bjw.5 
ENST00000243213.2 IL13RA2 ENST00000243213.2 Homo sapiens interleukin 13 receptor subunit alpha 2 (IL13RA2), mRNA. (from RefSeq NM_000640) A8K7E2 ENST00000243213.1 I13R2_HUMAN IL13R NM_000640 O00667 Q14627 uc065auf.1 uc065auf.2 The protein encoded by this gene is closely related to Il13RA1, a subuint of the interleukin 13 receptor complex. This protein binds IL13 with high affinity, but lacks cytoplasmic domain, and does not appear to function as a signal mediator. It is reported to play a role in the internalization of IL13. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK291957.1, Y08768.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243213.2/ ENSP00000243213.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds as a monomer with high affinity to interleukin-13 (IL13), but not to interleukin-4 (IL4). Membrane; Single-pass type I membrane protein. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Belongs to the type I cytokine receptor family. Type 5 subfamily. Contains 1 fibronectin type-III domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il13ra2/"; negative regulation of immunoglobulin production cytokine receptor activity protein binding extracellular region extracellular space external side of plasma membrane membrane integral component of membrane immunoglobulin mediated immune response cytokine-mediated signaling pathway cytokine binding receptor complex negative regulation of mast cell degranulation  uc065auf.1 uc065auf.2 
ENST00000243219.7 LAMA4 ENST00000243219.7 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt E5RFD7) BC066552 E5RFD7 E5RFD7_HUMAN ENST00000243219.1 ENST00000243219.2 ENST00000243219.3 ENST00000243219.4 ENST00000243219.5 ENST00000243219.6 uc063qum.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063qum.1 
ENST00000243222.8 COL10A1 ENST00000243222.8 Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage. (from UniProt Q03692) A1L4P2 COAA1_HUMAN ENST00000243222.1 ENST00000243222.2 ENST00000243222.3 ENST00000243222.4 ENST00000243222.5 ENST00000243222.6 ENST00000243222.7 MN308081 Q03692 uc003pwm.1 uc003pwm.2 uc003pwm.3 uc003pwm.4 Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage. Homotrimer. Secreted, extracellular space, extracellular matrix (By similarity). Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Defects in COL10A1 are the cause of Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]. SMCD is a dominantly inherited disorder of the osseous skeleton. The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait. Radiography usually shows sclerosis of the ribs, flaring of the metaphyses, and a wide irregular growth plate, especially of the knees. A variant form of SMCD is spondylometaphyseal dysplasia Japanese type. It is characterized by spinal involvement comprising mild platyspondyly, vertebral body abnormalities, and end-plate irregularity. Contains 1 C1q domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL10A1"; skeletal system development extracellular matrix structural constituent protein binding extracellular region collagen trimer extracellular space endoplasmic reticulum lumen extracellular matrix structural constituent conferring tensile strength extracellular matrix organization extracellular matrix metal ion binding  uc003pwm.1 uc003pwm.2 uc003pwm.3 uc003pwm.4 
ENST00000243253.8 SEC61A1 ENST00000243253.8 Homo sapiens SEC61 translocon subunit alpha 1 (SEC61A1), mRNA. (from RefSeq NM_013336) ENST00000243253.1 ENST00000243253.2 ENST00000243253.3 ENST00000243253.4 ENST00000243253.5 ENST00000243253.6 ENST00000243253.7 NM_013336 P38378 P57726 P61619 Q5JPF8 Q8N0Z4 Q8N3U3 Q8NC71 Q9BU16 Q9Y2R3 S61A1_HUMAN SEC61A uc003ekb.1 uc003ekb.2 uc003ekb.3 uc003ekb.4 uc003ekb.5 The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL832821.1, AK027423.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243253.8/ ENSP00000243253.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a crucial role in the insertion of secretory and membrane polypeptides into the ER. Required for assembly of membrane and secretory proteins. Tightly associated with membrane- bound ribosomes, either directly or through adapter proteins. Heterotrimeric complex composed of SEC61-alpha, SEC61- beta and SEC61-gamma. Endoplasmic reticulum membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61619-1; Sequence=Displayed; Name=3; IsoId=P61619-3; Sequence=VSP_013747; Note=No experimental confirmation available; Belongs to the SecY/SEC61-alpha family. Sequence=BAC11283.1; Type=Erroneous initiation; Sequence=BAC11434.1; Type=Erroneous initiation; signal sequence binding calcium channel activity protein binding endoplasmic reticulum Sec61 translocon complex endoplasmic reticulum membrane rough endoplasmic reticulum cytosol cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane, translocation posttranslational protein targeting to membrane endoplasmic reticulum organization protein transmembrane transporter activity protein transport membrane integral component of membrane integral component of endoplasmic reticulum membrane posttranslational protein targeting to membrane, translocation response to interferon-gamma pronephric nephron development ribosome binding protein targeting to ER calcium ion transmembrane transport  uc003ekb.1 uc003ekb.2 uc003ekb.3 uc003ekb.4 uc003ekb.5 
ENST00000243286.7 TCEAL3 ENST00000243286.7 May be involved in transcriptional regulation. (from UniProt Q969E4) BC008703 D3DXA4 ENST00000243286.1 ENST00000243286.2 ENST00000243286.3 ENST00000243286.4 ENST00000243286.5 ENST00000243286.6 MSTP072 Q969E4 TCAL3_HUMAN uc004ekq.1 uc004ekq.2 uc004ekq.3 uc004ekq.4 May be involved in transcriptional regulation. Nucleus (Probable). Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the TFS-II family. TFA subfamily. nucleus WW domain binding  uc004ekq.1 uc004ekq.2 uc004ekq.3 uc004ekq.4 
ENST00000243298.3 RAB9B ENST00000243298.3 Homo sapiens RAB9B, member RAS oncogene family (RAB9B), transcript variant 1, mRNA. (from RefSeq NM_016370) B2R8M0 ENST00000243298.1 ENST00000243298.2 NM_016370 Q52LX2 Q9NP90 RAB9B_HUMAN RAB9L uc004ell.1 uc004ell.2 uc004ell.3 uc004ell.4 This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]. Involved in the transport of proteins between the endosomes and the trans Golgi network (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Ubiquitous. Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity protein binding GTP binding lysosome late endosome cytosol plasma membrane intracellular protein transport protein transport membrane GDP binding secretory granule membrane phagocytic vesicle membrane cytoplasmic vesicle Rab protein signal transduction retrograde transport, endosome to Golgi identical protein binding neutrophil degranulation phagocytic vesicle  uc004ell.1 uc004ell.2 uc004ell.3 uc004ell.4 
ENST00000243300.14 NRK ENST00000243300.14 Homo sapiens Nik related kinase (NRK), mRNA. (from RefSeq NM_198465) ENST00000243300.1 ENST00000243300.10 ENST00000243300.11 ENST00000243300.12 ENST00000243300.13 ENST00000243300.2 ENST00000243300.3 ENST00000243300.4 ENST00000243300.5 ENST00000243300.6 ENST00000243300.7 ENST00000243300.8 ENST00000243300.9 NM_198465 NRK_HUMAN Q32ND6 Q5H9K2 Q6ZMP2 Q7Z2Y5 uc065ans.1 uc065ans.2 The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]. ##Evidence-Data-START## Transcript exon combination :: BX538345.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243300.14/ ENSP00000434830.1 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity). ATP + a protein = ADP + a phosphoprotein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z2Y5-1; Sequence=Displayed; Name=2; IsoId=Q7Z2Y5-2; Sequence=VSP_020654, VSP_020657; Note=No experimental confirmation available; Name=3; IsoId=Q7Z2Y5-3; Sequence=VSP_020655, VSP_020656; Note=No experimental confirmation available; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Contains 1 CNH domain. Contains 1 protein kinase domain. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding cytoplasm protein phosphorylation activation of JNKK activity parturition negative regulation of cell proliferation kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation actin cytoskeleton reorganization activation of protein kinase activity neuron projection morphogenesis regulation of spongiotrophoblast cell proliferation  uc065ans.1 uc065ans.2 
ENST00000243314.5 MAGEA9 ENST00000243314.5 Homo sapiens MAGE family member A9 (MAGEA9), mRNA. (from RefSeq NM_005365) A8K8A7 ENST00000243314.1 ENST00000243314.2 ENST00000243314.3 ENST00000243314.4 MAGA9_HUMAN MAGE9 MAGEA9A MAGEA9B NM_005365 P43362 Q7Z5K4 Q92910 uc004fdv.1 uc004fdv.2 uc004fdv.3 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC002351.2, DB019591.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes and placenta. Contains 1 MAGE domain. molecular_function protein binding cellular_component biological_process  uc004fdv.1 uc004fdv.2 uc004fdv.3 
ENST00000243325.6 RAB9A ENST00000243325.6 RAB9A, member RAS oncogene family (from HGNC RAB9A) A0A1B0GUI0 BC017265 ENST00000243325.1 ENST00000243325.2 ENST00000243325.3 ENST00000243325.4 ENST00000243325.5 uc286cqy.1  uc286cqy.1 
ENST00000243326.9 RIF1 ENST00000243326.9 Required for checkpoint mediated arrest of cell cycle progression in response to DNA damage during S-phase (the intra-S- phase checkpoint). This checkpoint requires activation of at least 2 parallel pathways by the ATM kinase: one involves the MRN (MRE11A-RAD50-NBS1) complex, while the second requires CHEK2. RIF1 seems to act independently of both these pathways. Seems to play no role in either the G1/S or G2/M DNA damage checkpoints. (from UniProt Q5UIP0) A6NC27 AY727912 C9JBR1 ENST00000243326.1 ENST00000243326.2 ENST00000243326.3 ENST00000243326.4 ENST00000243326.5 ENST00000243326.6 ENST00000243326.7 ENST00000243326.8 Q5H9R3 Q5UIP0 Q5UIP2 Q66YK6 Q6PRU2 Q8TE94 Q99772 Q9H830 Q9H9B9 Q9NVP5 Q9Y4R4 RIF1_HUMAN uc061ope.1 Required for checkpoint mediated arrest of cell cycle progression in response to DNA damage during S-phase (the intra-S- phase checkpoint). This checkpoint requires activation of at least 2 parallel pathways by the ATM kinase: one involves the MRN (MRE11A-RAD50-NBS1) complex, while the second requires CHEK2. RIF1 seems to act independently of both these pathways. Seems to play no role in either the G1/S or G2/M DNA damage checkpoints. Nucleus. Chromosome, telomere. Cytoplasm, cytoskeleton, spindle. Note=Exhibits ATM- and TP53BP1-dependent localization to uncapped or aberrant telomeres and to DNA double strand breaks (DSBs). Does not associate with normal telomere structures. Localizes to microtubules of the midzone of the mitotic spindle during anaphase, and to condensed chromosomes in telophase. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5UIP0-1; Sequence=Displayed; Name=2; IsoId=Q5UIP0-2; Sequence=VSP_014431; Highly expressed in testis. Expression peaks in late G2/S phase of the cell cycle. Phosphorylated upon DNA damage, probably by ATM or ATR. Sequence=BAA91705.1; Type=Erroneous initiation; Sequence=BAB14313.1; Type=Erroneous initiation; Sequence=BAB14792.1; Type=Erroneous initiation; Sequence=BAB85058.1; Type=Erroneous initiation; Sequence=CAI45961.1; Type=Frameshift; Positions=470; negative regulation of transcription from RNA polymerase II promoter telomere maintenance chromosome, telomeric region nuclear chromatin condensed chromosome female pronucleus male pronucleus protein binding nucleus nucleoplasm chromosome cytoplasm spindle cytoskeleton plasma membrane DNA repair double-strand break repair via nonhomologous end joining chromatin silencing at telomere cellular response to DNA damage stimulus cell cycle nuclear body stem cell population maintenance nuclear membrane site of double-strand break telomere maintenance in response to DNA damage positive regulation of isotype switching spindle midzone positive regulation of histone H3-K9 methylation cellular response to leukemia inhibitory factor negative regulation of double-strand break repair via homologous recombination positive regulation of double-strand break repair via nonhomologous end joining  uc061ope.1 
ENST00000243344.8 TTC21B ENST00000243344.8 Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA. (from RefSeq NM_024753) A8MUZ3 ENST00000243344.1 ENST00000243344.2 ENST00000243344.3 ENST00000243344.4 ENST00000243344.5 ENST00000243344.6 ENST00000243344.7 KIAA1992 NM_024753 Nbla10696 Q3LIE4 Q53T84 Q6P4A1 Q6PIF5 Q7Z4L5 Q8NCN3 Q96MA4 Q9HAK8 TT21B_HUMAN uc002udk.1 uc002udk.2 uc002udk.3 uc002udk.4 uc002udk.5 This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.107378.1, SRR1660805.120028.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243344.8/ ENSP00000243344.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May negatively modulate SHH signal transduction and may play a role in retrograde intraflagellar transport in cilia (By similarity). Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7Z4L5-1; Sequence=Displayed; Name=2; IsoId=Q7Z4L5-2; Sequence=VSP_026306, VSP_026307; Note=No experimental confirmation available; Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. TTC21B is causally associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum. TTC21B mutations interact in trans with mutations in other ciliopathy-causing genes and contribute to disease manifestation and severity. Defects in TTC21B are the cause of nephronophthisis type 12 (NPHP12) [MIM:613820]. NPHP12 is an autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects. Defects in TTC21B are the cause of asphyxiating thoracic dystrophy type 4 (ATD4) [MIM:613819]. ATD4 is an autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Defects in TTC21B may be a cause of Bardet-Biedl syndrome (BBS) [MIM:209900]. A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Defects in TTC21B may be a cause of Joubert syndrome (JBTS) [MIM:213300]. A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the TTC21 family. Contains 19 TPR repeats. Sequence=AAY14750.1; Type=Erroneous gene model prediction; Sequence=BAB13836.1; Type=Erroneous initiation; Note=Translation N-terminally extended; nuclear chromatin cytoplasm cytoskeleton cilium regulation of transcription from RNA polymerase II promoter smoothened signaling pathway regulation of smoothened signaling pathway ventricular system development forebrain dorsal/ventral pattern formation intraciliary transport particle A intraciliary retrograde transport intraciliary transport involved in cilium assembly cell projection protein localization to cilium ciliary tip  uc002udk.1 uc002udk.2 uc002udk.3 uc002udk.4 uc002udk.5 
ENST00000243346.10 NMI ENST00000243346.10 Homo sapiens N-myc and STAT interactor (NMI), mRNA. (from RefSeq NM_004688) B5BU69 ENST00000243346.1 ENST00000243346.2 ENST00000243346.3 ENST00000243346.4 ENST00000243346.5 ENST00000243346.6 ENST00000243346.7 ENST00000243346.8 ENST00000243346.9 NMI_HUMAN NM_004688 Q13287 Q53TI8 Q9BVE5 uc002txi.1 uc002txi.2 uc002txi.3 uc002txi.4 NMYC interactor (NMI) encodes a protein that interacts with NMYC and CMYC (two members of the oncogene Myc family), and other transcription factors containing a Zip, HLH, or HLH-Zip motif. The NMI protein also interacts with all STATs except STAT2 and augments STAT-mediated transcription in response to cytokines IL2 and IFN-gamma. The NMI mRNA has low expression levels in all human fetal and adult tissues tested except brain and has high expression in cancer cell line-myeloid leukemias. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.255715.1, SRR1163658.315184.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243346.10/ ENSP00000243346.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in augmenting coactivator protein recruitment to a group of sequence-specific transcription factors. Augments cytokine-mediated STAT transcription. Enhances CBP/p300 coactivator protein recruitment to STAT1 and STAT5. Interacts with MYCN and MYC, as well as with other transcription factors with a Zip, HLH or a HLH-Zip motif. Interacts with all STAT proteins except STAT2. Q9HCU9:BRMS1; NbExp=2; IntAct=EBI-372942, EBI-714781; Q9XRX5:HHLA3; NbExp=2; IntAct=EBI-372942, EBI-750554; P04198:MYCN; NbExp=3; IntAct=EBI-372942, EBI-878369; P56693:SOX10; NbExp=2; IntAct=EBI-372942, EBI-1167533; O55170:Sox10 (xeno); NbExp=4; IntAct=EBI-372942, EBI-1185693; P51692:STAT5B; NbExp=7; IntAct=EBI-372942, EBI-1186119; Q13748:TUBA3D; NbExp=2; IntAct=EBI-372942, EBI-355068; Cytoplasm. Expressed in all adult and fetal tissues except brain and skin. More abundant in fetal tissues especially liver. By IL2/interleukin-2 and IFNG/IFN-gamma. Belongs to the NMI family. transcription cofactor activity protein binding nucleoplasm cytoplasm cytosol transcription from RNA polymerase II promoter inflammatory response JAK-STAT cascade negative regulation of type I interferon production identical protein binding negative regulation of interferon-alpha biosynthetic process negative regulation of interferon-beta biosynthetic process negative regulation of innate immune response interferon-gamma-mediated signaling pathway positive regulation of protein K48-linked ubiquitination regulation of nucleic acid-templated transcription  uc002txi.1 uc002txi.2 uc002txi.3 uc002txi.4 
ENST00000243347.5 TNFAIP6 ENST00000243347.5 Homo sapiens TNF alpha induced protein 6 (TNFAIP6), mRNA. (from RefSeq NM_007115) ENST00000243347.1 ENST00000243347.2 ENST00000243347.3 ENST00000243347.4 NM_007115 P98066 Q53TI7 Q8WWI9 TSG6 TSG6_HUMAN uc002txk.1 uc002txk.2 uc002txk.3 uc002txk.4 The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.73644.1, SRR5189652.124369.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243347.5/ ENSP00000243347.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Possibly involved in cell-cell and cell-matrix interactions during inflammation and tumorigenesis. Interacts with inter-alpha-inhibitor (I-alpha-I). Chondroitin sulfate may be required for the stability of the complex. Found in the synovial fluid of patients with rheumatoid arthritis. By TNF. Contains 1 CUB domain. Contains 1 Link domain. protein binding hyaluronic acid binding extracellular region extracellular space inflammatory response cell adhesion signal transduction cell-cell signaling positive regulation of cell migration ovulation neutrophil degranulation negative regulation of inflammatory response tertiary granule lumen ficolin-1-rich granule lumen  uc002txk.1 uc002txk.2 uc002txk.3 uc002txk.4 
ENST00000243349.13 ACVR1C ENST00000243349.13 Homo sapiens activin A receptor type 1C (ACVR1C), transcript variant 1, mRNA. (from RefSeq NM_145259) ACV1C_HUMAN ALK7 ENST00000243349.1 ENST00000243349.10 ENST00000243349.11 ENST00000243349.12 ENST00000243349.2 ENST00000243349.3 ENST00000243349.4 ENST00000243349.5 ENST00000243349.6 ENST00000243349.7 ENST00000243349.8 ENST00000243349.9 NM_145259 Q4ZFZ8 Q86UL1 Q86UL2 Q8NER5 Q8TBG2 uc002tzk.1 uc002tzk.2 uc002tzk.3 uc002tzk.4 uc002tzk.5 uc002tzk.6 ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]. Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. ATP + [receptor-protein] = ADP + [receptor- protein] phosphate. Magnesium or manganese. Binds the type 2 receptor protein ACVR2A (By similarity). Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NER5-1; Sequence=Displayed; Name=2; Synonyms=B, soluble B; IsoId=Q8NER5-2; Sequence=VSP_051841; Name=3; Synonyms=A, soluble A; IsoId=Q8NER5-3; Sequence=VSP_051842; Name=4; Synonyms=Truncated; IsoId=Q8NER5-4; Sequence=VSP_051840; Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 GS domain. Contains 1 protein kinase domain. nucleotide binding response to dietary excess protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I ATP binding plasma membrane integral component of plasma membrane protein phosphorylation apoptotic process transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process response to glucose membrane integral component of membrane kinase activity phosphorylation activin receptor activity, type I transferase activity growth factor binding lipid storage cell differentiation apoptotic nuclear changes response to insulin activin receptor signaling pathway nodal signaling pathway nodal binding receptor complex positive regulation of cysteine-type endopeptidase activity involved in apoptotic process SMAD binding negative regulation of insulin secretion metal ion binding activin receptor complex activin binding negative regulation of trophoblast cell migration negative regulation of chorionic trophoblast cell proliferation  uc002tzk.1 uc002tzk.2 uc002tzk.3 uc002tzk.4 uc002tzk.5 uc002tzk.6 
ENST00000243389.8 SLC36A1 ENST00000243389.8 Homo sapiens solute carrier family 36 member 1 (SLC36A1), transcript variant 1, mRNA. (from RefSeq NM_078483) C9JI34 ENST00000243389.1 ENST00000243389.2 ENST00000243389.3 ENST00000243389.4 ENST00000243389.5 ENST00000243389.6 ENST00000243389.7 NM_078483 PAT1 Q1LZ56 Q7Z2H8 Q7Z7C0 Q86YK4 Q96M74 S36A1_HUMAN uc003luc.1 uc003luc.2 uc003luc.3 uc003luc.4 uc003luc.5 This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity). Cell membrane; Multi-pass membrane protein (By similarity). Lysosome membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q7Z2H8-1; Sequence=Displayed; Name=2; IsoId=Q7Z2H8-3; Sequence=VSP_044392; Name=3; IsoId=Q7Z2H8-4; Sequence=VSP_044390, VSP_044391; Belongs to the amino acid/polyamine transporter 2 family. Sequence=BAB71435.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; amino acid transmembrane transport hydrogen:amino acid symporter activity lysosome lysosomal membrane endoplasmic reticulum plasma membrane ion transport amino acid transport hydrogen ion transmembrane transporter activity amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity L-alanine transmembrane transporter activity glycine transmembrane transporter activity L-proline transmembrane transporter activity symporter activity neutral amino acid transport L-alanine transport glycine transport proline transport membrane integral component of membrane proline transmembrane transport hydrogen ion transmembrane transport  uc003luc.1 uc003luc.2 uc003luc.3 uc003luc.4 uc003luc.5 
ENST00000243440.2 BATF3 ENST00000243440.2 Homo sapiens basic leucine zipper ATF-like transcription factor 3 (BATF3), mRNA. (from RefSeq NM_018664) BATF3_HUMAN ENST00000243440.1 NM_018664 Q9NR55 SNFT uc001hjl.1 uc001hjl.2 uc001hjl.3 uc001hjl.4 This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.579318.1, AF255346.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMN03465406 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243440.2/ ENSP00000243440.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## AP-1 family transcription factor that controls the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Required for development of CD8-alpha(+) classical dendritic cells (cDCs) and related CD103(+) dendritic cells that cross-present antigens to CD8 T-cells and produce interleukin-12 (IL12) in response to pathogens (By similarity). Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes. Heterodimer; heterodimerizes with JUN family proteins. Interacts with JUN. Nucleus. Belongs to the bZIP family. Contains 1 bZIP (basic-leucine zipper) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter response to virus myeloid dendritic cell differentiation dendritic cell differentiation  uc001hjl.1 uc001hjl.2 uc001hjl.3 uc001hjl.4 
ENST00000243457.4 KCNJ2 ENST00000243457.4 Homo sapiens potassium inwardly rectifying channel subfamily J member 2 (KCNJ2), mRNA. (from RefSeq NM_000891) ENST00000243457.1 ENST00000243457.2 ENST00000243457.3 IRK1 IRK2_HUMAN NM_000891 O15110 P48049 P63252 uc002jir.1 uc002jir.2 uc002jir.3 uc002jir.4 uc002jir.5 Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF153820.1, U12507.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243457.4/ ENSP00000243457.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium. Homomultimeric and heteromultimeric association with Kir2.3, resulting in an enhanced G-protein-induced current. Association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK and APBA1 plays a key role in its localization and trafficking (By similarity). Membrane; Multi-pass membrane protein. Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain. Defects in KCNJ2 are the cause of long QT syndrome type 7 (LQT7) [MIM:170390]; also called Andersen syndrome or Andersen cardiodysrhythmic periodic paralysis. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional stress. LQT7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. Defects in KCNJ2 are the cause of short QT syndrome type 3 (SQT3) [MIM:609622]. Short QT syndromes are heart disorders characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. They cause syncope and sudden death. SQT3 has a unique ECG phenotype characterized by asymmetrical T waves. Defects in KCNJ2 are the cause of familial atrial fibrillation type 9 (ATFB9) [MIM:613980]. ATFB9 is a familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ2 subfamily. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNJ2"; inward rectifier potassium channel activity voltage-gated ion channel activity phosphatidylinositol-4,5-bisphosphate binding smooth endoplasmic reticulum rough endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex intercalated disc regulation of skeletal muscle contraction via regulation of action potential magnesium ion transport membrane integral component of membrane cellular potassium ion homeostasis T-tubule dendrite intrinsic component of membrane regulation of ion transmembrane transport identical protein binding neuronal cell body dendritic spine protein homotetramerization relaxation of cardiac muscle regulation of resting membrane potential regulation of membrane repolarization cardiac conduction cellular response to mechanical stimulus potassium ion transmembrane transport cardiac muscle cell action potential cardiac muscle cell action potential involved in contraction regulation of cardiac muscle cell contraction voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization membrane repolarization during action potential membrane depolarization during cardiac muscle cell action potential membrane repolarization during cardiac muscle cell action potential regulation of heart rate by cardiac conduction relaxation of skeletal muscle positive regulation of potassium ion transmembrane transport potassium ion import across plasma membrane  uc002jir.1 uc002jir.2 uc002jir.3 uc002jir.4 uc002jir.5 
ENST00000243498.10 EXOSC9 ENST00000243498.10 Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA. (from RefSeq NM_005033) ENST00000243498.1 ENST00000243498.2 ENST00000243498.3 ENST00000243498.4 ENST00000243498.5 ENST00000243498.6 ENST00000243498.7 ENST00000243498.8 ENST00000243498.9 EXOS9_HUMAN NM_005033 PMSCL1 Q06265 Q12883 Q4W5P5 Q86Y41 Q86Y48 uc003iea.1 uc003iea.2 uc003iea.3 uc003iea.4 uc003iea.5 This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]. Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC9 binds to ARE-containing RNAs. Component of the RNA exosome complex. Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure. Cytoplasm. Nucleus, nucleolus. Isoform 1: Nucleus, nucleolus. Isoform 2: Nucleus, nucleolus. Isoform 3: Nucleus. Note=Excluded from the nucleolus. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=PM/SCL-75c-alpha; IsoId=Q06265-1; Sequence=Displayed; Name=2; Synonyms=PM/SCL-75c-beta; IsoId=Q06265-2; Sequence=VSP_025556; Name=3; Synonyms=PM/SCL-75a-alpha; IsoId=Q06265-3; Sequence=VSP_025555; Name=4; Synonyms=PM/SCL-75a-beta; IsoId=Q06265-4; Sequence=VSP_025555, VSP_025556; Belongs to the RNase PH family. The six exosome core subunits containing a RNase PH- domain are not phosphorolytically active. 3'-5'-exoribonuclease activity nuclear exosome (RNase complex) cytoplasmic exosome (RNase complex) exosome (RNase complex) nuclear chromosome exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nuclear-transcribed mRNA catabolic process RNA polymerase II activating transcription factor binding RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol rRNA processing RNA processing immune response rRNA catabolic process positive regulation of cell growth nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' U1 snRNA 3'-end processing U4 snRNA 3'-end processing U5 snRNA 3'-end processing mRNA 3'-UTR AU-rich region binding regulation of mRNA stability exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay positive regulation of transcription from RNA polymerase II promoter extracellular exosome nuclear mRNA surveillance nuclear polyadenylation-dependent rRNA catabolic process nuclear polyadenylation-dependent tRNA catabolic process nuclear polyadenylation-dependent mRNA catabolic process exoribonuclease activity  uc003iea.1 uc003iea.2 uc003iea.3 uc003iea.4 uc003iea.5 
ENST00000243501.10 PLA2G12A ENST00000243501.10 Homo sapiens phospholipase A2 group XIIA (PLA2G12A), mRNA. (from RefSeq NM_030821) ENST00000243501.1 ENST00000243501.2 ENST00000243501.3 ENST00000243501.4 ENST00000243501.5 ENST00000243501.6 ENST00000243501.7 ENST00000243501.8 ENST00000243501.9 FKSG38 NM_030821 PG12A_HUMAN PLA2G12 Q9BZ89 Q9BZM1 UNQ2519/PRO6012 uc003hzp.1 uc003hzp.2 uc003hzp.3 uc003hzp.4 uc003hzp.5 Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this RefSeq transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.232034.1, SRR1660809.196392.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467150, SAMN03267778 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243501.10/ ENSP00000243501.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## PA2 catalyzes the calcium-dependent hydrolysis of the 2- acyl groups in 3-sn-phosphoglycerides. Does not exhibit detectable activity toward sn-2-arachidonoyl- or linoleoyl- phosphatidylcholine or -phosphatidylethanolamine. Phosphatidylcholine + H(2)O = 1- acylglycerophosphocholine + a carboxylate. Binds 1 calcium ion per subunit (By similarity). Secreted. Cytoplasm. Abundantly expressed in heart, skeletal muscle, kidney, liver and pancreas. Mass=18702.6; Mass_error=0.5; Method=MALDI; Range=22-189; Source=PubMed:11031251; Belongs to the phospholipase A2 family. phospholipase A2 activity calcium ion binding extracellular region cytoplasm lipid metabolic process phospholipid metabolic process phosphatidic acid biosynthetic process biological_process lipid catabolic process hydrolase activity phosphatidylglycerol acyl-chain remodeling phosphatidylinositol acyl-chain remodeling phosphatidylserine acyl-chain remodeling phosphatidylcholine acyl-chain remodeling phosphatidylethanolamine acyl-chain remodeling metal ion binding calcium-dependent phospholipase A2 activity arachidonic acid secretion  uc003hzp.1 uc003hzp.2 uc003hzp.3 uc003hzp.4 uc003hzp.5 
ENST00000243562.13 LTBP4 ENST00000243562.13 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt F8WAA0) AK128191 ENST00000243562.1 ENST00000243562.10 ENST00000243562.11 ENST00000243562.12 ENST00000243562.2 ENST00000243562.3 ENST00000243562.4 ENST00000243562.5 ENST00000243562.6 ENST00000243562.7 ENST00000243562.8 ENST00000243562.9 F8WAA0 F8WAA0_HUMAN uc060yue.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. calcium ion binding  uc060yue.1 
ENST00000243563.8 SNRPA ENST00000243563.8 Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. (from RefSeq NM_004596) ENST00000243563.1 ENST00000243563.2 ENST00000243563.3 ENST00000243563.4 ENST00000243563.5 ENST00000243563.6 ENST00000243563.7 NM_004596 P09012 SNRPA_HUMAN uc002ooz.1 uc002ooz.2 uc002ooz.3 uc002ooz.4 uc002ooz.5 The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000405.2, SRR1163657.318416.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243563.8/ ENSP00000243563.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds stem loop II of U1 snRNA. It is the first snRNP to interact with pre-mRNA. This interaction is required for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. In a snRNP-free form (SF-A) may be involved in coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5'-UGCAC-3' motif in vitro. Belongs to the spliceosome where it is associated with snRNP U1. Interacts with SFPQ. Also component of a snRNP-free complex with SFPQ. P23246:SFPQ; NbExp=4; IntAct=EBI-607085, EBI-355453; Nucleus. Belongs to the RRM U1 A/B'' family. Contains 2 RRM (RNA recognition motif) domains. mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U1 snRNP mRNA processing RNA splicing U1 snRNA binding identical protein binding regulation of mRNA polyadenylation U1 snRNP binding  uc002ooz.1 uc002ooz.2 uc002ooz.3 uc002ooz.4 uc002ooz.5 
ENST00000243578.8 B9D2 ENST00000243578.8 Homo sapiens B9 domain containing 2 (B9D2), mRNA. (from RefSeq NM_030578) B9D2_HUMAN ENST00000243578.1 ENST00000243578.2 ENST00000243578.3 ENST00000243578.4 ENST00000243578.5 ENST00000243578.6 ENST00000243578.7 MKSR2 NM_030578 Q9BPU9 uc002oqj.1 uc002oqj.2 uc002oqj.3 uc002oqj.4 This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.38730.1, SRR5189652.35644.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243578.8/ ENSP00000243578.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Part of the tectonic-like complex (also named B9 complex). Interacts with TUBG1 (By similarity). Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Nucleus (By similarity). Defects in B9D2 are the cause of Meckel syndrome type 10 (MKS10) [MIM:614175]. MKS10 is a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Belongs to the B9D family. Contains 1 B9 domain. protein binding nucleus cytoplasm centrosome cytosol cytoskeleton cilium membrane cell projection organization MKS complex ciliary basal body cell projection gamma-tubulin binding cilium assembly ciliary basal body docking  uc002oqj.1 uc002oqj.2 uc002oqj.3 uc002oqj.4 
ENST00000243583.10 COQ8B ENST00000243583.10 Homo sapiens coenzyme Q8B (COQ8B), transcript variant 2, mRNA. (from RefSeq NM_001142555) ADCK4 ADCK4_HUMAN ENST00000243583.1 ENST00000243583.2 ENST00000243583.3 ENST00000243583.4 ENST00000243583.5 ENST00000243583.6 ENST00000243583.7 ENST00000243583.8 ENST00000243583.9 NM_001142555 Q8TAJ1 Q96D53 Q9HA52 uc002ooq.1 uc002ooq.2 uc002ooq.3 This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]. The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). Membrane; Single-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96D53-1; Sequence=Displayed; Name=2; IsoId=Q96D53-2; Sequence=VSP_022357; Note=No experimental confirmation available; Belongs to the protein kinase superfamily. ADCK protein kinase family. Contains 1 protein kinase domain. nucleotide binding ATP binding cytoplasm mitochondrion cytosol plasma membrane protein phosphorylation ubiquinone biosynthetic process membrane integral component of membrane kinase activity phosphorylation transferase activity cerebellar Purkinje cell layer morphogenesis extrinsic component of mitochondrial inner membrane mitochondrial membrane protein kinase activity  uc002ooq.1 uc002ooq.2 uc002ooq.3 
ENST00000243611.9 C4BPB ENST00000243611.9 Homo sapiens complement component 4 binding protein beta (C4BPB), transcript variant 1, mRNA. (from RefSeq NM_000716) A5JYP8 C4BPB_HUMAN D3DT81 ENST00000243611.1 ENST00000243611.2 ENST00000243611.3 ENST00000243611.4 ENST00000243611.5 ENST00000243611.6 ENST00000243611.7 ENST00000243611.8 NM_000716 P20851 Q5VVR0 Q9BS25 uc001hfl.1 uc001hfl.2 uc001hfl.3 uc001hfl.4 This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]. Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S. Disulfide-linked complex of alpha and beta chains of 3 possible sorts: a 570 kDa complex of 7 alpha chains and 1 beta chain, a 530 kDa homoheptamer of alpha chains or a 500 kDa complex of 6 alpha chains and 1 beta chain. The central body of the alpha chain homopolymer supports tentacles, each with the binding site for C4b at the end. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P20851-1; Sequence=Displayed; Name=2; IsoId=P20851-2; Sequence=VSP_022594; Note=No experimental confirmation available; Contains 3 Sushi (CCP/SCR) domains. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/c4bpb/"; immune system process protein binding extracellular region extracellular space plasma membrane complement activation, classical pathway blood coagulation response to symbiotic bacterium regulation of complement activation innate immune response positive regulation of protein catabolic process negative regulation of complement activation, classical pathway regulation of opsonization  uc001hfl.1 uc001hfl.2 uc001hfl.3 uc001hfl.4 
ENST00000243639.8 ZNF468 ENST00000243639.8 Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 1, mRNA. (from RefSeq NM_001277120) ENST00000243639.1 ENST00000243639.2 ENST00000243639.3 ENST00000243639.4 ENST00000243639.5 ENST00000243639.6 ENST00000243639.7 NM_001277120 uc002qae.1 uc002qae.2 uc002qae.3 uc002qae.4 uc002qae.5  uc002qae.1 uc002qae.2 uc002qae.3 uc002qae.4 uc002qae.5 
ENST00000243643.9 ZNF415 ENST00000243643.9 Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 2, mRNA. (from RefSeq NM_018355) ENST00000243643.1 ENST00000243643.2 ENST00000243643.3 ENST00000243643.4 ENST00000243643.5 ENST00000243643.6 ENST00000243643.7 ENST00000243643.8 NM_018355 Q09FC7 Q09FC8 Q09FC9 Q09FD0 Q6NSZ2 Q6P3S0 Q9NUR2 ZN415_HUMAN uc002qaw.1 uc002qaw.2 uc002qaw.3 uc002qaw.4 uc002qaw.5 Involved in transcriptional regulation. Transcriptional activity differed among the various isoforms. All isoforms except isoform 3 seem to suppresses the transcriptional activities of AP- 1 and p53/TP53. Nucleus. Cytoplasm. Note=Isoforms 1, isoform 2, isoform 4 and isoform 5 showed both nuclear and cytoplasm localization. Isoform 3 localized only to nucleus. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=ZNF415-3; IsoId=Q09FC8-1; Sequence=Displayed; Name=2; Synonyms=ZNF415-2; IsoId=Q09FC8-2; Sequence=VSP_025178; Name=3; Synonyms=ZNF415-1; IsoId=Q09FC8-3; Sequence=VSP_025175; Name=4; Synonyms=ZNF415-4; IsoId=Q09FC8-4; Sequence=VSP_025177; Name=5; Synonyms=ZNF415-5; IsoId=Q09FC8-5; Sequence=VSP_025176; Expressed in all tissues examined. Isoforms are differentially expressed. Isoform 3 and isoform 5 were highly expressed, isoform 4 moderately expressed, isoform 2 lower expression, the lowest expression level was seem with isoform 1. Contains 12 C2H2-type zinc fingers. fibrillar center nucleic acid binding DNA binding protein binding nucleus cytoplasm microtubule cytoskeleton metal ion binding  uc002qaw.1 uc002qaw.2 uc002qaw.3 uc002qaw.4 uc002qaw.5 
ENST00000243644.9 ZNF350 ENST00000243644.9 Homo sapiens zinc finger protein 350 (ZNF350), mRNA. (from RefSeq NM_021632) ENST00000243644.1 ENST00000243644.2 ENST00000243644.3 ENST00000243644.4 ENST00000243644.5 ENST00000243644.6 ENST00000243644.7 ENST00000243644.8 NM_021632 Q96G73 Q9GZX5 Q9HAQ4 ZBRK1 ZN350_HUMAN uc002pyd.1 uc002pyd.2 uc002pyd.3 uc002pyd.4 uc002pyd.5 Transcriptional repressor. Binds to a specific sequence, 5'-GGGxxxCAGxxxTTT-3', within GADD45 intron 3. Interacts with BRCA1. Interacts with RNF11. P38398:BRCA1; NbExp=3; IntAct=EBI-396421, EBI-349905; Nucleus matrix. Note=Associated with the nuclear matrix. Widely expressed. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 8 C2H2-type zinc fingers. Contains 1 KRAB domain. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated nuclear matrix nuclear body transcriptional repressor complex transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding  uc002pyd.1 uc002pyd.2 uc002pyd.3 uc002pyd.4 uc002pyd.5 
ENST00000243662.11 RAB38 ENST00000243662.11 Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA. (from RefSeq NM_022337) ENST00000243662.1 ENST00000243662.10 ENST00000243662.2 ENST00000243662.3 ENST00000243662.4 ENST00000243662.5 ENST00000243662.6 ENST00000243662.7 ENST00000243662.8 ENST00000243662.9 NM_022337 P57729 Q53XK7 RAB38_HUMAN uc001pcj.1 uc001pcj.2 uc001pcj.3 uc001pcj.4 May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Melanosome. Expressed in melanocytes. Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated. Belongs to the small GTPase superfamily. Rab family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/rab38/"; nucleotide binding GTPase activity protein binding GTP binding cytoplasm mitochondrion lysosome early endosome endoplasmic reticulum Golgi apparatus trans-Golgi network cytosol plasma membrane intracellular protein transport organelle organization mitochondrion organization small GTPase mediated signal transduction protein transport membrane vesicle-mediated transport phagocytic vesicle membrane GTP-dependent protein binding cytoplasmic vesicle vesicle Rab protein signal transduction melanosome membrane endosome to melanosome transport AP-1 adaptor complex binding AP-3 adaptor complex binding BLOC-2 complex binding melanosome post-translational protein modification ER-mitochondrion membrane contact site phagocytic vesicle platelet dense granule organization protein localization to membrane phagosome acidification melanosome assembly positive regulation of phosphatidylcholine biosynthetic process early endosome lumen AP-2 adaptor complex binding  uc001pcj.1 uc001pcj.2 uc001pcj.3 uc001pcj.4 
ENST00000243673.7 GPR83 ENST00000243673.7 Homo sapiens G protein-coupled receptor 83 (GPR83), transcript variant 1, mRNA. (from RefSeq NM_016540) B0M0K5 ENST00000243673.1 ENST00000243673.2 ENST00000243673.3 ENST00000243673.4 ENST00000243673.5 ENST00000243673.6 GPR72 GPR83_HUMAN KIAA1540 NM_016540 Q6NWR4 Q9NYM4 Q9P1Y8 uc001pet.1 uc001pet.2 uc001pet.3 Orphan receptor. Could be a neuropeptide Y receptor. Cell membrane; Multi-pass membrane protein. Brain specific. Belongs to the G-protein coupled receptor 1 family. Sequence=BAA96064.1; Type=Erroneous initiation; G-protein coupled receptor activity neuropeptide Y receptor activity plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway membrane integral component of membrane response to glucocorticoid non-motile cilium  uc001pet.1 uc001pet.2 uc001pet.3 
ENST00000243706.8 HAUS3 ENST00000243706.8 Homo sapiens HAUS augmin like complex subunit 3 (HAUS3), transcript variant 2, mRNA. (from RefSeq NM_024511) C4orf15 ENST00000243706.1 ENST00000243706.2 ENST00000243706.3 ENST00000243706.4 ENST00000243706.5 ENST00000243706.6 ENST00000243706.7 HAUS3_HUMAN NM_024511 O43606 Q68CZ6 Q8TAZ5 Q9BTJ9 uc003ges.1 uc003ges.2 This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Belongs to the HAUS3 family. Sequence=AAB97010.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH03648.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH03648.1; Type=Frameshift; Positions=12; Sequence=AAH25356.1; Type=Erroneous initiation; Note=Translation N-terminally extended; G2/M transition of mitotic cell cycle molecular_function protein binding nucleoplasm cytoplasm mitochondrion centrosome microtubule organizing center spindle cytosol cytoskeleton microtubule cell cycle centrosome cycle regulation of G2/M transition of mitotic cell cycle microtubule cytoskeleton intercellular bridge spindle assembly cell division HAUS complex mitotic spindle ciliary basal body docking  uc003ges.1 uc003ges.2 
ENST00000243776.11 CHPF ENST00000243776.11 Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA. (from RefSeq NM_024536) CHSS2_HUMAN CSS2 ENST00000243776.1 ENST00000243776.10 ENST00000243776.2 ENST00000243776.3 ENST00000243776.4 ENST00000243776.5 ENST00000243776.6 ENST00000243776.7 ENST00000243776.8 ENST00000243776.9 NM_024536 Q6UXD6 Q7L4G1 Q8IZ52 Q9H0F8 Q9H618 UNQ651/PRO1281 uc002vmc.1 uc002vmc.2 uc002vmc.3 uc002vmc.4 uc002vmc.5 uc002vmc.6 Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. UDP-N-acetyl-D-galactosamine + beta-D- glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl- (1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan. UDP-alpha-D-glucuronate + N-acetyl-beta-D- galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)- beta-D-glucuronosyl-proteoglycan. Divalent cations. Highest activities are measured with manganese. Can also utilize cobalt. Binds CHSY1. Q01780:EXOSC10; NbExp=1; IntAct=EBI-372500, EBI-358236; Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein (Probable). Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, small intestine and placenta. Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the chondroitin N- acetylgalactosaminyltransferase family. Sequence=BAB15449.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane protein binding cytoplasm mitochondrion mitochondrial matrix Golgi apparatus cytosol acetylgalactosaminyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups chondroitin sulfate biosynthetic process Golgi cisterna membrane metal ion binding glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity  uc002vmc.1 uc002vmc.2 uc002vmc.3 uc002vmc.4 uc002vmc.5 uc002vmc.6 
ENST00000243786.3 INHA ENST00000243786.3 Homo sapiens inhibin subunit alpha (INHA), mRNA. (from RefSeq NM_002191) A8K8H5 ENST00000243786.1 ENST00000243786.2 INHA_HUMAN NM_002191 P05111 uc002vmk.1 uc002vmk.2 uc002vmk.3 uc002vmk.4 This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC039076.1, BC006391.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243786.3/ ENSP00000243786.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Dimeric, linked by one or more disulfide bonds. Inhibin A is a dimer of alpha and beta-A. Inhibin B is a dimer of alpha and beta-B. Secreted. Originally found in ovary (granulosa cells) and testis (Sertoli cells), but widely distributed in many tissues including brain and placenta. In adrenal cortex expression is limited to the zona reticularis and the innermost zona fasciculata in the normal gland, extending centripetally into the zona fasciculata in hyperplasia. Also found in adrenocortical tumors. Also expressed in prostate epithelium of benign prostatic hyperplasia, in regions of basal cell hyperplasia and in nonmalignant regions of high grade prostate cancer. Only circulating inhibin B is found in male, whereas circulating inhibins A and B are found in female. Proteolytic processing yields a number of bioactive forms. The 20/23 kDa forms consist solely of the mature alpha chain, the 26/29 kDa forms consist of the most N-terminal propeptide linked through a disulfide bond to the mature alpha chain, the 50/53 kDa forms encompass the entire proprotein. Each type can be furthermore either mono- or diglycosylated, causing the mass difference. Belongs to the TGF-beta family. Name=Wikipedia; Note=Inhibin entry; URL="http://en.wikipedia.org/wiki/Inhibin"; skeletal system development ovarian follicle development photoreceptor outer segment photoreceptor inner segment receptor binding cytokine activity transforming growth factor beta receptor binding hormone activity protein binding extracellular region extracellular space cytoplasm cell cycle arrest signal transduction cell surface receptor signaling pathway cell-cell signaling growth factor activity male gonad development positive regulation of pathway-restricted SMAD protein phosphorylation cell differentiation erythrocyte differentiation inhibin-betaglycan-ActRII complex inhibin binding regulation of cell proliferation negative regulation of phosphorylation hemoglobin biosynthetic process regulation of apoptotic process neuronal cell body regulation of MAPK cascade inhibin A complex inhibin B complex negative regulation of interferon-gamma biosynthetic process negative regulation of B cell differentiation negative regulation of macrophage differentiation negative regulation of cell cycle positive regulation of follicle-stimulating hormone secretion negative regulation of follicle-stimulating hormone secretion protein heterodimerization activity cell development regulation of cell cycle SMAD protein signal transduction  uc002vmk.1 uc002vmk.2 uc002vmk.3 uc002vmk.4 
ENST00000243806.2 FAM124B ENST00000243806.2 Q99750:MDFI; NbExp=4; IntAct=EBI-741626, EBI-724076; (from UniProt Q9H5Z6) A6NNC7 BC025754 ENST00000243806.1 F124B_HUMAN Q8NBZ4 Q8TAV7 Q9H5Z6 uc061tcx.1 Q99750:MDFI; NbExp=4; IntAct=EBI-741626, EBI-724076; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H5Z6-1; Sequence=Displayed; Name=2; IsoId=Q9H5Z6-2; Sequence=VSP_025042, VSP_025043; Belongs to the FAM124 family. Sequence=BAB15471.1; Type=Frameshift; Positions=264; protein binding nucleus nucleoplasm mitochondrion  uc061tcx.1 
ENST00000243810.10 SP140L ENST00000243810.10 Homo sapiens SP140 nuclear body protein like (SP140L), transcript variant 2, mRNA. (from RefSeq NM_001308162) ENST00000243810.1 ENST00000243810.2 ENST00000243810.3 ENST00000243810.4 ENST00000243810.5 ENST00000243810.6 ENST00000243810.7 ENST00000243810.8 ENST00000243810.9 NM_001308162 U5Y3L1 uc032ouz.1 uc032ouz.2  uc032ouz.1 uc032ouz.2 
ENST00000243878.9 ENKD1 ENST00000243878.9 Homo sapiens enkurin domain containing 1 (ENKD1), transcript variant 2, non-coding RNA. (from RefSeq NR_138150) C16orf48 CP048_HUMAN ENST00000243878.1 ENST00000243878.2 ENST00000243878.3 ENST00000243878.4 ENST00000243878.5 ENST00000243878.6 ENST00000243878.7 ENST00000243878.8 NR_138150 Q6UWD7 Q9H0I2 UNQ6410/PRO21183 uc002etw.1 uc002etw.2 uc002etw.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H0I2-1; Sequence=Displayed; Name=2; IsoId=Q9H0I2-2; Sequence=VSP_021904, VSP_021905; Note=No experimental confirmation available; protein binding cytoplasmic microtubule microtubule cytoskeleton  uc002etw.1 uc002etw.2 uc002etw.3 
ENST00000243893.10 UBE2C ENST00000243893.10 Homo sapiens ubiquitin conjugating enzyme E2 C (UBE2C), transcript variant 6, non-coding RNA. (from RefSeq NR_104036) ENST00000243893.1 ENST00000243893.2 ENST00000243893.3 ENST00000243893.4 ENST00000243893.5 ENST00000243893.6 ENST00000243893.7 ENST00000243893.8 ENST00000243893.9 K4DI81 K4DI81_HUMAN NR_104036 hCG_38372 uc061xjb.1 The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013].  uc061xjb.1 
ENST00000243896.6 SLC35C2 ENST00000243896.6 May play an important role in the cellular response to tissue hypoxia. (from UniProt Q9NQQ7) BC025277 C20orf5 CGI-15 E1P5T0 ENST00000243896.1 ENST00000243896.2 ENST00000243896.3 ENST00000243896.4 ENST00000243896.5 OVCOV1 Q5JW05 Q96CJ8 Q9NQQ7 Q9Y304 S35C2_HUMAN uc002xrr.1 uc002xrr.2 uc002xrr.3 uc002xrr.4 uc002xrr.5 May play an important role in the cellular response to tissue hypoxia. Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NQQ7-1; Sequence=Displayed; Name=2; IsoId=Q9NQQ7-2; Sequence=VSP_009229; Ubiquitously expressed although the level of expression is tissue dependent. Overexpressed in ovarian cancer. In hypoxic trophoblast cells. Belongs to the TPT transporter family. SLC35C subfamily. Sequence=AAD27724.1; Type=Frameshift; Positions=168, 211, 305; nucleoplasm endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cis-Golgi network negative regulation of gene expression antiporter activity UDP-glucose transport membrane integral component of membrane transmembrane transporter activity endoplasmic reticulum-Golgi intermediate compartment membrane fucosylation protein O-linked fucosylation positive regulation of Notch signaling pathway  uc002xrr.1 uc002xrr.2 uc002xrr.3 uc002xrr.4 uc002xrr.5 
ENST00000243903.6 ACTR5 ENST00000243903.6 Homo sapiens actin related protein 5 (ACTR5), mRNA. (from RefSeq NM_024855) ARP5 ARP5_HUMAN ENST00000243903.1 ENST00000243903.2 ENST00000243903.3 ENST00000243903.4 ENST00000243903.5 NM_024855 Q86WF7 Q8IUY5 Q8N724 Q9BRN0 Q9BVB7 Q9H9F9 uc002xjd.1 uc002xjd.2 uc002xjd.3 uc002xjd.4 Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Interacts with DDB1. Interacts with ACTR8; the interaction is observed in asynchronous (interphase) cells but not in metaphase-arrested cells indicative for a possible dissociation of the INO80 complex in mitotic cells. Q9H981:ACTR8; NbExp=2; IntAct=EBI-769418, EBI-769597; Q16531:DDB1; NbExp=3; IntAct=EBI-769418, EBI-350322; Q9ULG1:INO80; NbExp=6; IntAct=EBI-769418, EBI-769345; Nucleus. Cytoplasm. Note=Predominantly nuclear but undergoes nucleo-cytoplasmic shuttling. Localized to interphase nuclei, but not nucleoli; excluded from chromosomes as mitosis progresses. Belongs to the actin family. ARP5 subfamily. Sequence=AAO65164.1; Type=Frameshift; Positions=319, 343, 347; protein binding nucleus nucleoplasm cytoplasm DNA repair double-strand break repair DNA recombination regulation of transcription, DNA-templated cellular response to DNA damage stimulus protein deubiquitination Ino80 complex ATP-dependent chromatin remodeling UV-damage excision repair  uc002xjd.1 uc002xjd.2 uc002xjd.3 uc002xjd.4 
ENST00000243911.2 MC3R ENST00000243911.2 Homo sapiens melanocortin 3 receptor (MC3R), mRNA. (from RefSeq NM_019888) ENST00000243911.1 MC3R_HUMAN NM_019888 P41968 Q4KN27 Q9H517 uc002xxb.1 uc002xxb.2 This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]. Sequence Note: A downstream start codon is selected for this RefSeq based on conservation with homologs and for consistency with other family members, including the human melanocortin 4 and melanocortin 5 receptors. The use of an alternative upstream start codon, which is specific to primate species, would increase the protein length from 323 aa to 360 aa. This longer protein is referred to in the literature, including PMIDs 15292330 and 8463333. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC069105.1, BC069599.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000243911.2/ ENSP00000243911.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for MSH (alpha, beta and gamma) and ACTH. This receptor is mediated by G proteins which activate adenylate cyclase. Cell membrane; Multi-pass membrane protein. Brain, placental, and gut tissues. Genetic variations in MC3R define the body mass index quantitative trait locus 9 (BMIQ9) [MIM:602025]. Variance in body mass index is a susceptibility factor for obesity. Belongs to the G-protein coupled receptor 1 family. Sequence=AAC13541.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69105.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH69599.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96702.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH96737.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH98169.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH98351.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAO72726.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; regulation of heart rate G-protein coupled receptor activity melanocortin receptor activity melanocyte-stimulating hormone receptor activity protein binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-modulating G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway regulation of blood pressure membrane integral component of membrane peptide hormone binding circadian regulation of gene expression homoiothermy neuropeptide binding locomotor rhythm rhythmic process sodium ion homeostasis regulation of feeding behavior  uc002xxb.1 uc002xxb.2 
ENST00000243913.8 GCNT7 ENST00000243913.8 Homo sapiens glucosaminyl (N-acetyl) transferase family member 7 (GCNT7), transcript variant 1, non-coding, non-coding RNA. (from RefSeq NR_160308) C20orf105 ENST00000243913.1 ENST00000243913.2 ENST00000243913.3 ENST00000243913.4 ENST00000243913.5 ENST00000243913.6 ENST00000243913.7 GCNT7_HUMAN NR_160308 Q6ZNI0 Q9HCV8 uc061xwx.1 Glycosyltransferase (By similarity). Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Belongs to the glycosyltransferase 14 family. Sequence=CAC03741.2; Type=Erroneous gene model prediction; Sequence=CAC03741.2; Type=Erroneous termination; Positions=65; Note=Translated as Gln; Golgi membrane Golgi apparatus protein glycosylation acetylglucosaminyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups  uc061xwx.1 
ENST00000243914.8 CTCFL ENST00000243914.8 Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. (from UniProt Q8NI51) A1L4C6 BORIS CTCFL_HUMAN ENST00000243914.1 ENST00000243914.2 ENST00000243914.3 ENST00000243914.4 ENST00000243914.5 ENST00000243914.6 ENST00000243914.7 NM_001386994 Q5JUG4 Q8NI51 Q9BZ30 Q9NQJ3 uc010gjb.1 uc010gjb.2 uc010gjb.3 uc010gjb.4 Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. Interacts with histones, PRMT7 and SETD1A. Interacts (via N-terminus) with BAG6/BAT3. Cytoplasm. Nucleus. Testis specific. Specifically expressed in primary spermatocytes. Is up-regulated in primary spermatocytes (expression overlapping with the genome-wide erasure of methylation) to become silenced on activation of CTCF in post- meiotic germline cells (expression corresponding to DNA remethylation). Belongs to the CTCF zinc-finger protein family. Contains 11 C2H2-type zinc fingers. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding protein binding nucleus cytoplasm chromatin organization regulation of gene expression by genetic imprinting cell cycle positive regulation of gene expression histone methylation histone binding DNA methylation involved in gamete generation sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding regulation of histone H3-K4 methylation  uc010gjb.1 uc010gjb.2 uc010gjb.3 uc010gjb.4 
ENST00000243918.10 SYS1 ENST00000243918.10 Homo sapiens SYS1 golgi trafficking protein (SYS1), transcript variant 1, mRNA. (from RefSeq NM_033542) C20orf169 E1P620 ENST00000243918.1 ENST00000243918.2 ENST00000243918.3 ENST00000243918.4 ENST00000243918.5 ENST00000243918.6 ENST00000243918.7 ENST00000243918.8 ENST00000243918.9 NM_033542 Q5QPU7 Q8N2H4 Q96SD8 Q9BQZ2 Q9BQZ4 Q9H1F7 SYS1_HUMAN uc002xnv.1 uc002xnv.2 uc002xnv.3 uc002xnv.4 uc002xnv.5 SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 2009]. Involved in protein trafficking. May serve as a receptor for ARFRP1. Interacts with ARFRP1. Golgi apparatus membrane; Multi-pass membrane protein. Belongs to the SYS1 family. Sequence=CAC39448.1; Type=Erroneous initiation; Golgi membrane Golgi apparatus trans-Golgi network cytosol Golgi to endosome transport protein transport membrane integral component of membrane integral component of Golgi membrane trans-Golgi network membrane protein localization to Golgi apparatus Golgi to plasma membrane protein transport  uc002xnv.1 uc002xnv.2 uc002xnv.3 uc002xnv.4 uc002xnv.5 
ENST00000243924.4 PI3 ENST00000243924.4 Homo sapiens peptidase inhibitor 3 (PI3), mRNA. (from RefSeq NM_002638) E1P618 ELAF_HUMAN ENST00000243924.1 ENST00000243924.2 ENST00000243924.3 NM_002638 P19957 Q6FG74 WAP3 WFDC14 uc002xng.1 uc002xng.2 uc002xng.3 uc002xng.4 uc002xng.5 This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BG490472.1, BC010952.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243924.4/ ENSP00000243924.3 Protein has antimicrobial activity :: PMID: 19906197 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis. Secreted. Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins. Contains 1 WAP domain. cornified envelope endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity extracellular region cytosol copulation negative regulation of peptidase activity negative regulation of endopeptidase activity peptide cross-linking antimicrobial humoral response structural constituent of epidermis peptidase inhibitor activity extracellular matrix cornification  uc002xng.1 uc002xng.2 uc002xng.3 uc002xng.4 uc002xng.5 
ENST00000243938.9 WFDC3 ENST00000243938.9 Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA. (from RefSeq NM_080614) A6PVF2 ENST00000243938.1 ENST00000243938.2 ENST00000243938.3 ENST00000243938.4 ENST00000243938.5 ENST00000243938.6 ENST00000243938.7 ENST00000243938.8 NM_080614 Q0P6A5 Q3T1C5 Q8IUB2 Q8TC52 Q9BQP3 Q9BQP4 WAP14 WFDC3_HUMAN uc002xpf.1 uc002xpf.2 This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF488306.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000243938.9/ ENSP00000243938.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Secreted (Potential). Ubiquitously expressed. Contains 4 WAP domains. Sequence=AAI02014.1; Type=Erroneous initiation; Sequence=AAI02015.1; Type=Erroneous initiation; serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity  uc002xpf.1 uc002xpf.2 
ENST00000243964.7 SLC12A5 ENST00000243964.7 Homo sapiens solute carrier family 12 member 5 (SLC12A5), transcript variant 2, mRNA. (from RefSeq NM_020708) A2RTX2 ENST00000243964.1 ENST00000243964.2 ENST00000243964.3 ENST00000243964.4 ENST00000243964.5 ENST00000243964.6 KCC2 KIAA1176 NM_020708 Q5VZ41 Q9H2X9 Q9H4Z0 Q9ULP4 S12A5_HUMAN uc002xrb.1 uc002xrb.2 uc002xrb.3 uc002xrb.4 K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]. Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons. Inhibited by WNK3. Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KCC2a; IsoId=Q9H2X9-1; Sequence=Displayed; Name=2; Synonyms=KCC2b; IsoId=Q9H2X9-2; Sequence=VSP_029909; Note=Ref.1 (AAG43493) sequence is in conflict in position: 2:L->P; Brain specific. Detected in neuronal cells. Inhibited by furosemide and bumetanide. Belongs to the SLC12A transporter family. plasma membrane integral component of plasma membrane ion transport potassium ion transport chloride transport cellular ion homeostasis cell volume homeostasis hypotonic response chemical synaptic transmission learning chloride transmembrane transporter activity symporter activity cation:chloride symporter activity potassium:chloride symporter activity membrane integral component of membrane protein kinase binding transmembrane transporter activity cellular chloride ion homeostasis multicellular organism growth thermosensory behavior response to drug chloride ion homeostasis potassium ion homeostasis transmembrane transport dendritic spine development chloride transmembrane transport potassium ion import across plasma membrane  uc002xrb.1 uc002xrb.2 uc002xrb.3 uc002xrb.4 
ENST00000243967.8 ARHGAP40 ENST00000243967.8 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H7BXE0) ENST00000243967.1 ENST00000243967.2 ENST00000243967.3 ENST00000243967.4 ENST00000243967.5 ENST00000243967.6 ENST00000243967.7 H7BXE0 H7BXE0_HUMAN uc061wyz.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. signal transduction  uc061wyz.1 
ENST00000243997.8 ATP5F1E ENST00000243997.8 Homo sapiens ATP synthase F1 subunit epsilon (ATP5F1E), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006886) ATP5E ATP5E_HUMAN B2RDD0 E1P5H6 ENST00000243997.1 ENST00000243997.2 ENST00000243997.3 ENST00000243997.4 ENST00000243997.5 ENST00000243997.6 ENST00000243997.7 NM_006886 P56381 Q53XU6 uc002yal.1 uc002yal.2 uc002yal.3 uc002yal.4 uc002yal.5 This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.195812.1, SRR1803612.248998.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000243997.8/ ENSP00000243997.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits (By similarity). F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L). Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity). Mitochondrion. Mitochondrion inner membrane. Ubiquitous. Defects in ATP5E are the cause of mitochondrial complex V deficiency nuclear type 3 (MC5DN3) [MIM:614053]. MC5DN3 is a mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. Belongs to the eukaryotic ATPase epsilon family. mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) protein binding mitochondrion mitochondrial inner membrane mitochondrial proton-transporting ATP synthase complex mitochondrial matrix ATP biosynthetic process ion transport ATP synthesis coupled proton transport membrane hydrolase activity transmembrane transporter activity cristae formation mitochondrial ATP synthesis coupled proton transport proton-transporting ATP synthase complex, catalytic core F(1) proton-transporting ATP synthase activity, rotational mechanism ATPase activity  uc002yal.1 uc002yal.2 uc002yal.3 uc002yal.4 uc002yal.5 
ENST00000244007.7 PLCG1 ENST00000244007.7 Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand- mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration. (from UniProt P19174) AB210028 B7ZLY7 B9EGH4 E1P5W4 ENST00000244007.1 ENST00000244007.2 ENST00000244007.3 ENST00000244007.4 ENST00000244007.5 ENST00000244007.6 P19174 PLC1 PLCG1_HUMAN Q2V575 uc002xjo.1 uc002xjo.2 Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signaling cascades. Becomes activated in response to ligand- mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganization and cell migration. 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol. Calcium. Activated by phosphorylation on tyrosine residues. Interacts with AGAP2 via its SH3 domain. Interacts (via SH2 domain) with RET. Interacts with FLT1 (tyrosine- phosphorylated) (By similarity). Interacts (via SH2 domain) with FGFR1, FGFR2, FGFR3 and FGFR4 (phosphorylated). Interacts with LAT (phosphorylated) upon TCR activation. Interacts (via SH3 domain) with the Pro-rich domain of TNK1. Associates with BLNK, VAV1, GRB2 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with CBLB in activated T-cells; which inhibits phosphorylation. Interacts with SHB. Interacts (via SH3 domain) with the Arg/Gly- rich-flanked Pro-rich domains of KHDRBS1/SAM68. This interaction is selectively regulated by arginine methylation of KHDRBS1/SAM68. Interacts with INPP5D/SHIP1, THEMIS and CLNK (By similarity). Interacts with AXL, FLT4 and KIT. Interacts with RALGPS1. Interacts (via SH3 domain) with HEV ORF3 protein. Interacts (via the SH2 domains) with VIL1 (phosphorylated at C-terminus tyrosine phosphorylation sites). Interacts (via SH2 domain) with PDGFRA and PDGFRB (tyrosine phosphorylated). Interacts with PIP5K1C (By similarity). Interacts with NTRK1 and NTRK2 (phosphorylated upon ligand-binding). Interacts with SYK; activates PLCG1. Interacts with GRB2, LAT and THEMIS upon TCR activation in thymocytes (By similarity). Interacts with TESPA1; the association is increased with prolonged stimulation of the TCR and may facilitate the assembly of the LAT signalosome. P42684:ABL2; NbExp=4; IntAct=EBI-79387, EBI-1102694; Q9ULH1:ASAP1; NbExp=3; IntAct=EBI-79387, EBI-346622; O43150:ASAP2; NbExp=3; IntAct=EBI-79387, EBI-310968; P20273:CD22; NbExp=2; IntAct=EBI-79387, EBI-78277; Q9H1R2:DUSP15; NbExp=2; IntAct=EBI-79387, EBI-1752795; P31994:FCGR2B; NbExp=2; IntAct=EBI-79387, EBI-724784; Q07666:KHDRBS1; NbExp=2; IntAct=EBI-79387, EBI-1364; O43561:LAT; NbExp=2; IntAct=EBI-79387, EBI-1222766; Q92918:MAP4K1; NbExp=6; IntAct=EBI-79387, EBI-881; Q8TB24:RIN3; NbExp=3; IntAct=EBI-79387, EBI-1570523; Q9UPX8:SHANK2; NbExp=4; IntAct=EBI-79387, EBI-1570571; Q9BYB0:SHANK3; NbExp=2; IntAct=EBI-79387, EBI-1752330; Q15036:SNX17; NbExp=2; IntAct=EBI-79387, EBI-1752620; Q07889:SOS1; NbExp=2; IntAct=EBI-79387, EBI-297487; Q07890:SOS2; NbExp=4; IntAct=EBI-79387, EBI-298181; P09327:VIL1; NbExp=5; IntAct=EBI-79387, EBI-1047253; Cell projection, lamellipodium. Cell projection, ruffle. Note=Rapidly redistributed to ruffles and lamellipodia structures in response to epidermal growth factor (EGF) treatment. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P19174-1; Sequence=Displayed; Name=2; IsoId=P19174-2; Sequence=VSP_038692; The SH3 domain mediates interaction with CLNK (By similarity). The SH3 domain also mediates interaction with RALGPS1. Tyrosine phosphorylated in response to signaling via activated FLT3, KIT and PDGFRA (By similarity). Tyrosine phosphorylated by activated FGFR1, FGFR2, FGFR3 and FGFR4. Tyrosine phosphorylated by activated FLT1 and KDR. Tyrosine phosphorylated by activated PDGFRB. The receptor-mediated activation of PLCG1 involves its phosphorylation by tyrosine kinases, in response to ligation of a variety of growth factor receptors and immune system receptors. For instance, SYK phosphorylates and activates PLCG1 in response to ligation of the B-cell receptor. May be dephosphorylated by PTPRJ. Phosphorylated by ITK and TXK on Tyr-783 upon TCR activation in T-cells. Ubiquitinated by CBLB in activated T-cells (By similarity). Contains 1 C2 domain. Contains 1 EF-hand domain. Contains 2 PH domains. Contains 1 PI-PLC X-box domain. Contains 1 PI-PLC Y-box domain. Contains 2 SH2 domains. Contains 1 SH3 domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/plcg1/"; in utero embryonic development ruffle phosphatidylinositol phospholipase C activity phospholipase C activity neurotrophin TRKA receptor binding calcium ion binding protein binding cytoplasm cytosol plasma membrane cell-cell junction lipid metabolic process signal transduction epidermal growth factor receptor signaling pathway activation of phospholipase C activity axon guidance phosphoric diester hydrolase activity COP9 signalosome phospholipid catabolic process positive regulation of epithelial cell migration positive regulation of phospholipase C activity viral process lipid catabolic process cell migration hydrolase activity calcium-mediated signaling protein kinase binding lamellipodium receptor tyrosine kinase binding inositol trisphosphate biosynthetic process glutamate receptor binding intracellular signal transduction Fc-epsilon receptor signaling pathway Fc-gamma receptor signaling pathway involved in phagocytosis cell projection positive regulation of blood vessel endothelial cell migration inositol phosphate metabolic process positive regulation of angiogenesis metal ion binding phosphatidylinositol-mediated signaling modulation of synaptic transmission T cell receptor signaling pathway leukocyte migration release of sequestered calcium ion into cytosol positive regulation of release of sequestered calcium ion into cytosol cellular response to epidermal growth factor stimulus glutamatergic synapse positive regulation of vascular endothelial cell proliferation positive regulation of endothelial cell apoptotic process  uc002xjo.1 uc002xjo.2 
ENST00000244020.5 SRSF6 ENST00000244020.5 Homo sapiens serine and arginine rich splicing factor 6 (SRSF6), transcript variant 1, mRNA. (from RefSeq NM_006275) B7Z6J3 E1P5W6 ENST00000244020.1 ENST00000244020.2 ENST00000244020.3 ENST00000244020.4 NM_006275 Q13244 Q13245 Q13247 Q96J06 Q9UJB8 Q9Y3N7 SFRS6 SRP55 SRSF6_HUMAN uc010zwg.1 uc010zwg.2 uc010zwg.3 uc010zwg.4 The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]. Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10. Binds SREK1/SFRS12. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=SRP55-1; IsoId=Q13247-1; Sequence=Displayed; Name=SRP55-2; IsoId=Q13247-2; Sequence=VSP_005869, VSP_005870; Name=SRP55-3; IsoId=Q13247-3; Sequence=VSP_005871; Extensively phosphorylated on serine residues in the RS domain (By similarity). Belongs to the splicing factor SR family. Contains 2 RRM (RNA recognition motif) domains. alternative mRNA splicing, via spliceosome regulation of alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm mRNA splice site selection mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing negative regulation of gene expression regulation of keratinocyte proliferation nuclear speck mRNA 3'-end processing response to insulin pre-mRNA binding mRNA cis splicing, via spliceosome negative regulation of keratinocyte differentiation negative regulation of mRNA splicing, via spliceosome positive regulation of epithelial cell proliferation involved in lung morphogenesis negative regulation of cell death regulation of wound healing negative regulation of type B pancreatic cell apoptotic process  uc010zwg.1 uc010zwg.2 uc010zwg.3 uc010zwg.4 
ENST00000244040.4 RAB22A ENST00000244040.4 Homo sapiens RAB22A, member RAS oncogene family (RAB22A), mRNA. (from RefSeq NM_020673) B3KR86 E1P605 ENST00000244040.1 ENST00000244040.2 ENST00000244040.3 NM_020673 Q8TF12 Q9H4E6 Q9UL26 RAB22 RB22A_HUMAN uc002xyz.1 uc002xyz.2 uc002xyz.3 uc002xyz.4 uc002xyz.5 The protein encoded by this gene is a member of the RAB family of small GTPases. The GTP-bound form of the encoded protein has been shown to interact with early-endosomal antigen 1, and may be involved in the trafficking of and interaction between endosomal compartments. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK091180.1, AJ276210.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244040.4/ ENSP00000244040.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in endocytosis and intracellular protein transport. Mediates trafficking of TF from early endosomes to recycling endosomes. Required for NGF-mediated endocytosis of NTRK1, and subsequent neurite outgrowth. Binds GTP and GDP and has low GTPase activity. Alternates between a GTP-bound active form and a GDP-bound inactive form. Interacts directly with ZFYVE20 (By similarity). Binds EEA1 (By similarity). Interacts (in its GTP-bound form) with RABGEF1. Interacts (in its GTP-bound form) with RINL. Q15075:EEA1; NbExp=3; IntAct=EBI-399456, EBI-298113; Endosome membrane; Lipid-anchor (By similarity). Cell membrane; Lipid-anchor (By similarity). Early endosome. Cell projection, ruffle. Cytoplasmic vesicle. Belongs to the small GTPase superfamily. Rab family. nucleotide binding ruffle GTPase activity protein binding GTP binding endosome early endosome late endosome plasma membrane intracellular protein transport endocytosis endosome organization endosome membrane protein transport actin cytoskeleton membrane GDP binding phagocytic vesicle membrane cytoplasmic vesicle Rab protein signal transduction cell projection phagocytic vesicle extracellular exosome regulation of vesicle size  uc002xyz.1 uc002xyz.2 uc002xyz.3 uc002xyz.4 uc002xyz.5 
ENST00000244043.5 PTGIS ENST00000244043.5 Homo sapiens prostaglandin I2 synthase (PTGIS), mRNA. (from RefSeq NM_000961) CYP8 CYP8A1 ENST00000244043.1 ENST00000244043.2 ENST00000244043.3 ENST00000244043.4 NM_000961 PTGIS_HUMAN Q16647 Q3MII8 Q9HAX2 Q9HAX3 Q9HAX4 uc002xut.1 uc002xut.2 uc002xut.3 uc002xut.4 uc002xut.5 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.168310.1, D38145.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244043.5/ ENSP00000244043.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2). (5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15- hydroxyprosta-5,13-dienoate = (5Z,13E)-(15S)-6,9-alpha-epoxy-11- alpha,15-dihydroxyprosta-5,13-dienoate. Heme group (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein. Widely expressed; particularly abundant in ovary, heart, skeletal muscle, lung and prostate. Belongs to the cytochrome P450 family. Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP8A1 alleles; URL="http://www.cypalleles.ki.se/cyp8a1.htm"; prostaglandin biosynthetic process monooxygenase activity iron ion binding protein binding extracellular space nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane caveola lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process icosanoid metabolic process prostaglandin metabolic process embryo implantation prostaglandin-I synthase activity membrane integral component of membrane oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen isomerase activity cyclooxygenase pathway heme binding negative regulation of NF-kappaB transcription factor activity NAD biosynthesis via nicotinamide riboside salvage pathway positive regulation of peroxisome proliferator activated receptor signaling pathway negative regulation of nitric oxide biosynthetic process positive regulation of angiogenesis decidualization metal ion binding negative regulation of inflammatory response oxidation-reduction process cellular response to interleukin-1 cellular response to interleukin-6 cellular response to hypoxia apoptotic signaling pathway positive regulation of execution phase of apoptosis  uc002xut.1 uc002xut.2 uc002xut.3 uc002xut.4 uc002xut.5 
ENST00000244049.7 CDH26 ENST00000244049.7 Homo sapiens cadherin 26 (CDH26), transcript variant c, mRNA. (from RefSeq NM_001348204) A2A2M5 B3KNX3 CAD26_HUMAN ENST00000244049.1 ENST00000244049.2 ENST00000244049.3 ENST00000244049.4 ENST00000244049.5 ENST00000244049.6 NM_001348204 Q6P5Y6 Q8IXH8 Q8TCH3 Q9BQN4 Q9NRU1 uc002ybi.1 uc002ybi.2 uc002ybi.3 uc002ybi.4 This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cell membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=a; IsoId=Q8IXH8-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q8IXH8-2; Sequence=VSP_008333, VSP_008334, VSP_008331, VSP_008332; Note=No experimental confirmation available; Name=3; IsoId=Q8IXH8-4; Sequence=VSP_008331, VSP_008332; Name=4; IsoId=Q8IXH8-5; Sequence=VSP_008333, VSP_008334, VSP_008332; Contains 4 cadherin domains. cell morphogenesis integrin binding calcium ion binding protein binding plasma membrane cell-cell adherens junction cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules beta-catenin binding cytoskeletal protein binding cell surface membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex adherens junction organization CD4-positive, alpha-beta T cell activation protein homodimerization activity cell-cell adhesion mediated by cadherin alpha-catenin binding cadherin binding metal ion binding delta-catenin binding cell-cell adhesion  uc002ybi.1 uc002ybi.2 uc002ybi.3 uc002ybi.4 
ENST00000244050.3 SNAI1 ENST00000244050.3 Homo sapiens snail family transcriptional repressor 1 (SNAI1), mRNA. (from RefSeq NM_005985) ENST00000244050.1 ENST00000244050.2 NM_005985 O95863 Q9P113 Q9UBP7 Q9UHH7 SNAH SNAI1_HUMAN uc002xuz.1 uc002xuz.2 uc002xuz.3 uc002xuz.4 uc002xuz.5 The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC012910.1, SRR5189661.136537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244050.3/ ENSP00000244050.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the epithelial to mesenchymal transition (EMT) and formation and maintenance of embryonic mesoderm (By similarity). Binds to 3 E-boxes of the E-cadherin gene promoter and represses its transcription. Interacts with FBXL14 and GSK3B. Interacts with BTRC; interaction occurs when it is phosphorylated on the destruction motif. Interacts (via SNAG domain) with WTIP (via LIM domains) (By similarity). Interacts (via SNAG domain) with LIMD1 (via LIM domains), and AJUBA (via LIM domains). Interacts with LOXL2 and LOXL3. P49841:GSK3B; NbExp=4; IntAct=EBI-1045459, EBI-373586; O60341:KDM1A; NbExp=4; IntAct=EBI-1045459, EBI-710124; P09874:PARP1; NbExp=10; IntAct=EBI-1045459, EBI-355676; Nucleus. Cytoplasm. Note=Once phosphorylated (probably on Ser-107, Ser-111, Ser-115 and Ser-119) it is exported from the nucleus to the cytoplasm where subsequent phosphorylation of the destruction motif and ubiquitination involving BTRC occurs. Expressed in a variety of tissues with the highest expression in kidney. Expressed in mesenchymal and epithelial cell lines. Phosphorylated by GSK3B. Once phosphorylated, it becomes a target for BTRC ubiquitination. Ubiquitinated on Lys-98, Lys-137 and Lys-146 by FBXL14 and BTRC leading to degradation. BTRC-triggered ubiquitination requires previous GSK3B-mediated SNAI1 phosphorylation. O-GlcNAcylation at Ser-112 is enhanced in hyperglycaemic conditions, it opposes phosphorylation by GSK3B, and stabilizes the protein. Belongs to the snail C2H2-type zinc-finger protein family. Contains 4 C2H2-type zinc fingers. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding osteoblast differentiation mesoderm formation epithelial to mesenchymal transition aortic valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation nucleic acid binding DNA binding protein binding nucleus nucleoplasm pericentric heterochromatin cytoplasm cytosol regulation of transcription from RNA polymerase II promoter multicellular organism development mesoderm development positive regulation of epithelial to mesenchymal transition negative regulation of vitamin D biosynthetic process cell migration kinase binding positive regulation of cell migration hair follicle morphogenesis negative regulation of DNA damage response, signal transduction by p53 class mediator sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated metal ion binding palate development cartilage morphogenesis trophoblast giant cell differentiation negative regulation of cell differentiation involved in embryonic placenta development left/right pattern formation Notch signaling involved in heart development heterochromatin organization E-box binding negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage regulation of bicellular tight junction assembly  uc002xuz.1 uc002xuz.2 uc002xuz.3 uc002xuz.4 uc002xuz.5 
ENST00000244051.3 MOCS3 ENST00000244051.3 Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA. (from RefSeq NM_014484) ENST00000244051.1 ENST00000244051.2 MOCS3_HUMAN NM_014484 O95396 UBA4 uc002xvy.1 uc002xvy.2 uc002xvy.3 uc002xvy.4 Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: SRR1803617.267477.1, SRR1803613.28578.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244051.3/ ENSP00000244051.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Also essential during biosynthesis of the molybdenum cofactor. Acts by mediating the C-terminal thiocarboxylation of sulfur carriers URM1 and MOCS2A. Its N-terminus first activates URM1 and MOCS2A as acyl-adenylates (-COAMP), then the persulfide sulfur on the catalytic cysteine is transferred to URM1 and MOCS2A to form thiocarboxylation (-COSH) of their C-terminus. The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards URM1 and MOCS2A. Subsequently, a transient disulfide bond is formed. Does not use thiosulfate as sulfur donor; NFS1 probably acting as a sulfur donor for thiocarboxylation reactions. ATP + [molybdopterin-synthase sulfur-carrier protein]-Gly-Gly = diphosphate + [molybdopterin-synthase sulfur- carrier protein]-Gly-Gly-AMP. [Molybdopterin-synthase sulfur-carrier protein]-Gly-Gly-AMP + [cysteine desulfurase]-S-sulfanyl-L- cysteine = AMP + [molybdopterin-synthase sulfur-carrier protein]- Gly-NH-CH(2)-C(O)SH + cysteine desulfurase. Binds 1 zinc ion per subunit (By similarity). Kinetic parameters: KM=0.25 mM for thiosulfate; KM=0.28 mM for cyanide; tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine- tRNA biosynthesis. Cofactor biosynthesis; molybdopterin biosynthesis. Interacts with NFS1. Cytoplasm, cytosol. In the N-terminal section; belongs to the HesA/MoeB/ThiF family. UBA4 subfamily. Contains 1 rhodanese domain. nucleotide binding tRNA wobble uridine modification tRNA wobble position uridine thiolation catalytic activity thiosulfate sulfurtransferase activity protein binding ATP binding cytoplasm cytosol Mo-molybdopterin cofactor biosynthetic process tRNA processing metabolic process small protein activating enzyme activity transferase activity nucleotidyltransferase activity sulfurtransferase activity enzyme active site formation via cysteine modification to L-cysteine persulfide molybdopterin cofactor biosynthetic process protein urmylation tRNA thio-modification URM1 activating enzyme activity metal ion binding molybdopterin-synthase sulfurtransferase activity molybdopterin-synthase adenylyltransferase activity  uc002xvy.1 uc002xvy.2 uc002xvy.3 uc002xvy.4 
ENST00000244061.6 RNF114 ENST00000244061.6 Homo sapiens ring finger protein 114 (RNF114), mRNA. (from RefSeq NM_018683) B2RDQ9 B4DWY5 E1P627 ENST00000244061.1 ENST00000244061.2 ENST00000244061.3 ENST00000244061.4 ENST00000244061.5 NM_018683 Q6N0B0 Q9Y508 RN114_HUMAN ZNF228 ZNF313 uc002xux.1 uc002xux.2 uc002xux.3 uc002xux.4 uc002xux.5 May play a role in spermatogenesis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y508-1; Sequence=Displayed; Name=2; IsoId=Q9Y508-2; Sequence=VSP_036843, VSP_036844; Note=No experimental confirmation available; Expressed in numerous tissues, including skin, CD4 lymphocytes and dendritic cells. Highest levels in testis. Contains 1 RING-type zinc finger. Sequence=CAE45709.1; Type=Erroneous initiation; protein polyubiquitination intracellular nucleus cytoplasm cytosol plasma membrane multicellular organism development spermatogenesis protein ubiquitination transferase activity cell differentiation metal ion binding  uc002xux.1 uc002xux.2 uc002xux.3 uc002xux.4 uc002xux.5 
ENST00000244070.8 ENSG00000291067 ENST00000244070.8 ENSG00000291067 (from geneSymbol) BC100979 ENST00000244070.1 ENST00000244070.2 ENST00000244070.3 ENST00000244070.4 ENST00000244070.5 ENST00000244070.6 ENST00000244070.7 uc286slx.1 uc286slx.2  uc286slx.1 uc286slx.2 
ENST00000244096.7 MAGEA10 ENST00000244096.7 Homo sapiens MAGE family member A10 (MAGEA10), transcript variant 3, mRNA. (from RefSeq NM_001251828) ENST00000244096.1 ENST00000244096.2 ENST00000244096.3 ENST00000244096.4 ENST00000244096.5 ENST00000244096.6 MAGAA_HUMAN MAGE10 NM_001251828 P43363 uc004ffk.1 uc004ffk.2 uc004ffk.3 uc004ffk.4 This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]. Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression. Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes and placenta. Contains 1 MAGE domain. nucleus nucleoplasm cytosol  uc004ffk.1 uc004ffk.2 uc004ffk.3 uc004ffk.4 
ENST00000244137.12 PEPD ENST00000244137.12 Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA. (from RefSeq NM_000285) A8K3Z1 A8K416 A8K696 A8MX47 B4DGJ1 ENST00000244137.1 ENST00000244137.10 ENST00000244137.11 ENST00000244137.2 ENST00000244137.3 ENST00000244137.4 ENST00000244137.5 ENST00000244137.6 ENST00000244137.7 ENST00000244137.8 ENST00000244137.9 NM_000285 P12955 PEPD_HUMAN PRD Q8TBN9 Q9BT75 uc002nur.1 uc002nur.2 uc002nur.3 uc002nur.4 uc002nur.5 uc002nur.6 This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. Splits dipeptides with a prolyl or hydroxyprolyl residue in the C-terminal position. Plays an important role in collagen metabolism because the high level of iminoacids in collagen. Hydrolysis of Xaa-|-Pro dipeptides; also acts on aminoacyl-hydroxyproline analogs. No action on Pro-|-Pro. Binds 2 manganese ions per subunit. Homodimer. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P12955-1; Sequence=Displayed; Name=2; IsoId=P12955-2; Sequence=VSP_042629; Note=No experimental confirmation available; Mass=54251.73; Method=MALDI; Range=2-493; Source=PubMed:11840567; Defects in PEPD are a cause of prolidase deficiency (PD) [MIM:170100]. Prolidase deficiency is an autosomal recessive disorder associated with iminodipeptiduria. The clinical phenotype includes skin ulcers, mental retardation, recurrent infections, and a characteristic facies. These features, however are incompletely penetrant and highly variable in both age of onset and severity. There is a tight linkage between the polymorphisms of prolidase and the myotonic dystrophy trait. Belongs to the peptidase M24B family. Eukaryotic-type prolidase subfamily. aminopeptidase activity metallocarboxypeptidase activity protein binding nucleus nucleoplasm proteolysis cellular amino acid metabolic process peptidase activity metallopeptidase activity hydrolase activity dipeptidase activity manganese ion binding collagen catabolic process metal ion binding extracellular exosome proline dipeptidase activity  uc002nur.1 uc002nur.2 uc002nur.3 uc002nur.4 uc002nur.5 uc002nur.6 
ENST00000244174.11 IL9R ENST00000244174.11 Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. (from RefSeq NM_002186) ENST00000244174.1 ENST00000244174.10 ENST00000244174.2 ENST00000244174.3 ENST00000244174.4 ENST00000244174.5 ENST00000244174.6 ENST00000244174.7 ENST00000244174.8 ENST00000244174.9 IL9R_HUMAN NM_002186 Q01113 Q14634 Q8WWU1 Q96TF0 uc004fxn.1 uc004fxn.2 uc004fxn.3 The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. This is a receptor for interleukin-9. Cell membrane; Single-pass type I membrane protein. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q01113-1; Sequence=Displayed; Name=2; IsoId=Q01113-2; Sequence=VSP_039025; The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. The gene encoding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes. Belongs to the type I cytokine receptor family. Type 4 subfamily. Contains 1 fibronectin type-III domain. Sequence=AAB30844.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/il9r/"; cytokine receptor activity interleukin-9 receptor activity extracellular region extracellular space plasma membrane integral component of plasma membrane signal transduction membrane integral component of membrane interleukin-9-mediated signaling pathway regulation of cell proliferation  uc004fxn.1 uc004fxn.2 uc004fxn.3 
ENST00000244204.11 NAGK ENST00000244204.11 Homo sapiens N-acetylglucosamine kinase (NAGK), transcript variant 1, mRNA. (from RefSeq NM_017567) ENST00000244204.1 ENST00000244204.10 ENST00000244204.2 ENST00000244204.3 ENST00000244204.4 ENST00000244204.5 ENST00000244204.6 ENST00000244204.7 ENST00000244204.8 ENST00000244204.9 NAGK_HUMAN NM_017567 Q53HD5 Q6IA84 Q9BS29 Q9BVP0 Q9NV37 Q9UJ70 uc061kll.1 uc061kll.2 This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. CCDS Note: The coding region has been updated to shorten the N-terminus to one that is more supported by conservation. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.45062.1, SRR1660803.169264.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244204.11/ ENSP00000244204.5 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## Converts endogenous N-acetylglucosamine (GlcNAc), a major component of complex carbohydrates, from lysosomal degradation or nutritional sources into GlcNAc 6-phosphate. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway: although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. Also has ManNAc kinase activity. ATP + N-acetyl-D-glucosamine = ADP + N-acetyl- D-glucosamine 6-phosphate. Amino-sugar metabolism; N-acetylneuraminate degradation. Homodimer. Q8TBB1:LNX1; NbExp=2; IntAct=EBI-372578, EBI-739832; Ubiquitous. Belongs to the eukaryotic-type N-acetylglucosamine kinase family. nucleotide binding protein binding ATP binding cytosol N-acetylglucosamine metabolic process UDP-N-acetylglucosamine biosynthetic process N-acetylmannosamine metabolic process kinase activity phosphorylation transferase activity N-acetylneuraminate catabolic process N-acetylglucosamine kinase activity carbohydrate phosphorylation extracellular exosome  uc061kll.1 uc061kll.2 
ENST00000244217.6 MCEE ENST00000244217.6 Homo sapiens methylmalonyl-CoA epimerase (MCEE), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032601) ENST00000244217.1 ENST00000244217.2 ENST00000244217.3 ENST00000244217.4 ENST00000244217.5 MCEE_HUMAN NM_032601 Q53TP1 Q8WW63 Q96PE7 uc002shs.1 uc002shs.2 uc002shs.3 uc002shs.4 The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.63614.1, SRR5189661.77625.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244217.6/ ENSP00000244217.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## (R)-methylmalonyl-CoA = (S)-methylmalonyl-CoA. Mitochondrion (Probable). Defects in MCEE are a cause of methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]; also known as methylmalonyl-CoA racemase deficiency or methylmalonic aciduria type 3. MCEE deficiency is an autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Belongs to the glyoxalase I family. methylmalonyl-CoA epimerase activity protein binding mitochondrion mitochondrial matrix isomerase activity short-chain fatty acid catabolic process L-methylmalonyl-CoA metabolic process metal ion binding  uc002shs.1 uc002shs.2 uc002shs.3 uc002shs.4 
ENST00000244221.9 PAIP2B ENST00000244221.9 Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA. (from RefSeq NM_020459) ENST00000244221.1 ENST00000244221.2 ENST00000244221.3 ENST00000244221.4 ENST00000244221.5 ENST00000244221.6 ENST00000244221.7 ENST00000244221.8 KIAA1155 NM_020459 PAI2B_HUMAN Q9ULR5 uc002shu.1 uc002shu.2 uc002shu.3 uc002shu.4 Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.188656.1, SRR1660803.198078.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244221.9/ ENSP00000244221.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Belongs to the PAIP2 family. Sequence=BAA86469.1; Type=Erroneous initiation; translation repressor activity, nucleic acid binding protein binding cytoplasm regulation of translation negative regulation of translational initiation  uc002shu.1 uc002shu.2 uc002shu.3 uc002shu.4 
ENST00000244227.8 SNRNP27 ENST00000244227.8 Homo sapiens small nuclear ribonucleoprotein U4/U6.U5 subunit 27 (SNRNP27), transcript variant 2, non-coding RNA. (from RefSeq NR_037862) ENST00000244227.1 ENST00000244227.2 ENST00000244227.3 ENST00000244227.4 ENST00000244227.5 ENST00000244227.6 ENST00000244227.7 NR_037862 Q15410 Q8WVK2 SNR27_HUMAN uc002sfw.1 uc002sfw.2 uc002sfw.3 uc002sfw.4 uc002sfw.5 This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]. May play a role in mRNA splicing. Part of a tri-snRNP complex. Nucleus (Potential). Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated in vitro by snRNP-associated protein kinase. Belongs to the SNUT3 family. Sequence=CAA53949.1; Type=Erroneous initiation; mRNA splicing, via spliceosome nucleic acid binding protein binding cellular_component nucleus nucleoplasm mRNA processing biological_process RNA splicing  uc002sfw.1 uc002sfw.2 uc002sfw.3 uc002sfw.4 uc002sfw.5 
ENST00000244230.7 MPHOSPH10 ENST00000244230.7 Homo sapiens M-phase phosphoprotein 10 (MPHOSPH10), mRNA. (from RefSeq NM_005791) A0AVJ8 ENST00000244230.1 ENST00000244230.2 ENST00000244230.3 ENST00000244230.4 ENST00000244230.5 ENST00000244230.6 MPP10 MPP10_HUMAN NM_005791 O00566 uc002sht.1 uc002sht.2 uc002sht.3 uc002sht.4 This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.151375.1, SRR1660803.210472.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244230.7/ ENSP00000244230.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP). Required for the early cleavages during pre-18S ribosomal RNA processing. Component of a heterotrimeric complex containing IMP3, IMP4 and MPHOSPH10. Interacts with IMP3 and IMP4. Nucleus, nucleolus. Chromosome. Note=Fibrillar region of the nucleolus. After dissolution of the nucleolus in early M phase becomes associated with chromosomes through metaphase and anaphase. In telophase localized to small cellular prenucleolar bodies that not always contain fibrillarin. The reassociation with nucleolus is preceeded by the arrival of fibrillarin. Phosphorylated in M (mitotic) phase. Belongs to the MPP10 family. RNA splicing, via transesterification reactions RNA binding protein binding nucleus nucleoplasm chromosome nucleolus small nucleolar ribonucleoprotein complex rRNA processing RNA processing RNA splicing negative regulation of phosphatase activity small-subunit processome Mpp10 complex ribosome biogenesis  uc002sht.1 uc002sht.2 uc002sht.3 uc002sht.4 
ENST00000244241.5 IL17C ENST00000244241.5 Homo sapiens interleukin 17C (IL17C), mRNA. (from RefSeq NM_013278) ENST00000244241.1 ENST00000244241.2 ENST00000244241.3 ENST00000244241.4 IL17C_HUMAN NM_013278 Q3MIG8 Q9HC75 Q9P0M4 UNQ561/PRO1122 uc002fla.1 uc002fla.2 uc002fla.3 uc002fla.4 uc002fla.5 The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY358471.1, AF152099.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2163459 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244241.5/ ENSP00000244241.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1. Secreted. Belongs to the IL-17 family. Name=Wikipedia; Note=Interleukin-17 entry; URL="http://en.wikipedia.org/wiki/Interleukin_17"; cytokine activity extracellular region extracellular space inflammatory response cell surface receptor signaling pathway cell-cell signaling interleukin-17-mediated signaling pathway  uc002fla.1 uc002fla.2 uc002fla.3 uc002fla.4 uc002fla.5 
ENST00000244289.9 LIPE ENST00000244289.9 Homo sapiens lipase E, hormone sensitive type (LIPE), mRNA. (from RefSeq NM_005357) ENST00000244289.1 ENST00000244289.2 ENST00000244289.3 ENST00000244289.4 ENST00000244289.5 ENST00000244289.6 ENST00000244289.7 ENST00000244289.8 LIPS_HUMAN NM_005357 Q05469 Q3LRT2 Q6NSL7 uc002otr.1 uc002otr.2 uc002otr.3 uc002otr.4 uc002otr.5 The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U40002.1, BC070041.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244289.9/ ENSP00000244289.3 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production. Diacylglycerol + H(2)O = monoacylglycerol + a carboxylate. Triacylglycerol + H(2)O = diacylglycerol + a carboxylate. Monoacylglycerol + H(2)O = glycerol + a carboxylate. Rapidly activated by cAMP-dependent phosphorylation under the influence of catecholamines. Dephosphorylation and inactivation are controlled by insulin. Glycerolipid metabolism; triacylglycerol degradation. Interacts with PTRF in the adipocyte cytoplasm. Cell membrane. Membrane, caveola. Cytoplasm, cytosol. Note=Found in the high-density caveolae. Translocates to the cytoplasm from the caveolae upon insulin stimulation. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Testicular; IsoId=Q05469-1; Sequence=Displayed; Name=2; IsoId=Q05469-2; Sequence=VSP_017116; Phosphorylation by AMPK may block translocation to lipid droplets (By similarity). Belongs to the 'GDXG' lipolytic enzyme family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/lipe/"; triglyceride lipase activity protein binding cytoplasm lipid particle cytosol plasma membrane caveola protein phosphorylation lipid metabolic process steroid metabolic process cholesterol metabolic process membrane lipid catabolic process lipase activity hydrolase activity serine hydrolase activity triglyceride catabolic process protein kinase binding hormone-sensitive lipase activity long-chain fatty acid catabolic process diacylglycerol catabolic process  uc002otr.1 uc002otr.2 uc002otr.3 uc002otr.4 uc002otr.5 
ENST00000244293.11 PSG9 ENST00000244293.11 Secreted (Potential). (from UniProt Q00887) B2R869 ENST00000244293.1 ENST00000244293.10 ENST00000244293.2 ENST00000244293.3 ENST00000244293.4 ENST00000244293.5 ENST00000244293.6 ENST00000244293.7 ENST00000244293.8 ENST00000244293.9 NM_001411075 PSG11 PSG9_HUMAN Q00887 Q15236 Q15237 Q8WW78 Q9UQ73 uc002owg.1 uc002owg.2 uc002owg.3 Secreted (Potential). PSBG are produced in high quantity during pregnancy. Belongs to the immunoglobulin superfamily. CEA family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. extracellular region female pregnancy  uc002owg.1 uc002owg.2 uc002owg.3 
ENST00000244295.13 PSG4 ENST00000244295.13 Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 2, mRNA. (from RefSeq NM_213633) CGM4 ENST00000244295.1 ENST00000244295.10 ENST00000244295.11 ENST00000244295.12 ENST00000244295.2 ENST00000244295.3 ENST00000244295.4 ENST00000244295.5 ENST00000244295.6 ENST00000244295.7 ENST00000244295.8 ENST00000244295.9 NM_213633 PSG4_HUMAN PSG9 Q00888 Q13047 Q13048 Q15234 Q15240 Q9UQ76 uc002ovz.1 uc002ovz.2 uc002ovz.3 uc002ovz.4 uc002ovz.5 The protein encoded by this gene is a pregnancy-specific glycoprotein (PSG), one of several encoded by a cluster of similar genes on chromosome 19. This gene is a member of the carcinoembryonic antigen (CEA) gene family and may play a role in regulation of the innate immune system. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Secreted (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q00888-1; Sequence=Displayed; Name=2; IsoId=Q00888-2; Sequence=VSP_007875, VSP_040131; PSBG are produced in high quantity during pregnancy. Belongs to the immunoglobulin superfamily. CEA family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. Sequence=AAA60208.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=M32625; Type=Erroneous gene model prediction; extracellular region female pregnancy  uc002ovz.1 uc002ovz.2 uc002ovz.3 uc002ovz.4 uc002ovz.5 
ENST00000244296.6 PSG1 ENST00000244296.6 Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. (from RefSeq NM_006905) B1G1 ENST00000244296.1 ENST00000244296.2 ENST00000244296.3 ENST00000244296.4 ENST00000244296.5 NM_006905 O75236 P11462 P11463 P11464 PSBG1 PSG1_HUMAN PSGGA Q15231 Q15241 Q15243 Q16660 Q6ICR4 Q9P1W5 Q9UQ79 uc002ovd.1 The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]. Secreted (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=PSG-1a; IsoId=P11464-1; Sequence=Displayed; Name=2; IsoId=P11464-2; Sequence=VSP_002550; Name=3; IsoId=P11464-3; Sequence=VSP_002549; Name=4; Synonyms=PSG-1d; IsoId=P11464-4; Sequence=VSP_002548; PSBG are produced in high quantity during pregnancy. Belongs to the immunoglobulin superfamily. CEA family. Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 Ig-like V-type (immunoglobulin-like) domain. protein binding extracellular region female pregnancy leukocyte migration  uc002ovd.1 
ENST00000244302.8 HIF3A ENST00000244302.8 hypoxia inducible factor 3 alpha subunit (from HGNC HIF3A) AK027725 ENST00000244302.1 ENST00000244302.2 ENST00000244302.3 ENST00000244302.4 ENST00000244302.5 ENST00000244302.6 ENST00000244302.7 uc002peg.1 uc002peg.2 uc002peg.3 uc002peg.4 uc002peg.5  uc002peg.1 uc002peg.2 uc002peg.3 uc002peg.4 uc002peg.5 
ENST00000244303.10 HIF3A ENST00000244303.10 Homo sapiens hypoxia inducible factor 3 subunit alpha (HIF3A), transcript variant 2, mRNA. (from RefSeq NM_022462) B0M185 B4DNA2 BHLHE17 ENST00000244303.1 ENST00000244303.2 ENST00000244303.3 ENST00000244303.4 ENST00000244303.5 ENST00000244303.6 ENST00000244303.7 ENST00000244303.8 ENST00000244303.9 HIF3A_HUMAN MOP7 NM_022462 PASD7 Q58A43 Q66K72 Q8WXA1 Q96K34 Q9H7Z9 Q9HAI2 Q9Y2N7 uc010xxy.1 uc010xxy.2 uc010xxy.3 The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]. Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1. Binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The complex HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative function of inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to hypoxia-responsive elements (HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of isoform 4, leading to activation of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of isoform 4 increases and thereby secure an inhibition of HIF1A activity. Isoform 4 may be a negative regulator of hypoxia-inducible gene expression in the kidney and may be involved in renal tumorigenesis. Functions as an inhibitor of angiogenesis in the cornea (By similarity). Heterodimerizes with ARNT. Interacts via the oxygen- dependent degradation domain (ODD) with the beta domain of VHL. Nucleus. Cytoplasm. Note=In the nuclei of all periportal and perivenous hepatocytes. In the distal perivenous zone, detected in the cytoplasm of the hepatocytes (By similarity). Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=Q9Y2N7-1; Sequence=Displayed; Name=2; Synonyms=HIF-3alpha1; IsoId=Q9Y2N7-2; Sequence=VSP_024520; Name=3; Synonyms=HIF-3alpha2; IsoId=Q9Y2N7-3; Sequence=VSP_024526; Name=4; Synonyms=HIF-3alpha4; IsoId=Q9Y2N7-4; Sequence=VSP_024523, VSP_024525; Name=5; Synonyms=HIF-3alpha3; IsoId=Q9Y2N7-5; Sequence=VSP_024519, VSP_024527; Name=6; Synonyms=HIF-3alpha6; IsoId=Q9Y2N7-6; Sequence=VSP_024518, VSP_024521, VSP_024522, VSP_024524; Name=7; IsoId=Q9Y2N7-7; Sequence=VSP_043429; Note=No experimental confirmation available; Expressed in kidney. Expressed abundantly in lung epithelial cells. Expression is regulated in an oxygen- dependent manner. Strongly induced by hypoxia (1% O(2)), both at the level of protein and mRNA due to an increase in protein stability and transcriptional activation. In normoxia, hydroxylated on Pro-492 in the oxygen-dependent degradation domain (ODD) by PHD. The hydroxylated proline promotes interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Contains 1 bHLH (basic helix-loop-helix) domain. Contains 2 PAS (PER-ARNT-SIM) domains. Name=Wikipedia; Note=Hypoxia inducible factor entry; URL="http://en.wikipedia.org/wiki/Hypoxia_inducible_factor"; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding angiogenesis response to hypoxia DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity transcription corepressor activity nucleus nucleoplasm cytoplasm mitochondrion cytosol plasma membrane regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter apoptotic process multicellular organism development protein ubiquitination nuclear speck post-translational protein modification positive regulation of transcription from RNA polymerase II promoter protein dimerization activity regulation of transcription from RNA polymerase II promoter in response to hypoxia negative regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription cellular response to hypoxia  uc010xxy.1 uc010xxy.2 uc010xxy.3 
ENST00000244314.6 IRGC ENST00000244314.6 Homo sapiens immunity related GTPase cinema (IRGC), mRNA. (from RefSeq NM_019612) ENST00000244314.1 ENST00000244314.2 ENST00000244314.3 ENST00000244314.4 ENST00000244314.5 IIGP5 IIGP5_HUMAN IRGC1 NM_019612 Q05BR8 Q6NXR0 uc002oxh.1 uc002oxh.2 uc002oxh.3 uc002oxh.4 uc002oxh.5 GTP + H(2)O = GDP + phosphate. Belongs to the interferon-inducible GTPase family. nucleotide binding GTP binding membrane hydrolase activity  uc002oxh.1 uc002oxh.2 uc002oxh.3 uc002oxh.4 uc002oxh.5 
ENST00000244321.10 PINLYP ENST00000244321.10 phospholipase A2 inhibitor and LY6/PLAUR domain containing (from HGNC PINLYP) AK296854 ENST00000244321.1 ENST00000244321.2 ENST00000244321.3 ENST00000244321.4 ENST00000244321.5 ENST00000244321.6 ENST00000244321.7 ENST00000244321.8 ENST00000244321.9 uc010xwq.1 uc010xwq.2 uc010xwq.3  uc010xwq.1 uc010xwq.2 uc010xwq.3 
ENST00000244333.4 LYPD3 ENST00000244333.4 Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. (from RefSeq NM_014400) C4.4A ENST00000244333.1 ENST00000244333.2 ENST00000244333.3 LYPD3_HUMAN NM_014400 O95274 Q9UJ74 UNQ491/PRO1007 uc002owl.1 uc002owl.2 uc002owl.3 Supports cell migration. May be involved in urothelial cell-matrix interactions. May be involved in tumor progression. Binds laminin-1 and laminin-5. Interacts with LGALS3 (By similarity). Interacts with AGR2 and AGR3. Cell membrane; Lipid-anchor, GPI-anchor. Expressed in placenta, skin and urothelium. Found in suprabasal keratinocytes of chronic wounds. Weak expression is found in esophagus and peripheral blood mononuclear cells. Found in the majority of primary and metastatic transitional cell carcinomas (TCCs) and as well in breast cancer tissues, but not in adjacent normal tissues. High expression is found in the tumor component of some noninvasive superficial lesions and in invasive and metastatic urothelial cancers. Up-regulated in migrating keratinocytes during epithelisation of incisional skin wounds. N-glycosylated and O-glycosylated. Mass=21442.9; Method=MALDI; Range=1-204; Source=PubMed:15012588; Contains 2 UPAR/Ly6 domains. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/LYPD3ID44245ch19q13.html"; extracellular region extracellular space plasma membrane cell-matrix adhesion membrane integral component of membrane anchored component of membrane laminin binding anchored component of plasma membrane  uc002owl.1 uc002owl.2 uc002owl.3 
ENST00000244336.10 CEACAM8 ENST00000244336.10 Homo sapiens CEA cell adhesion molecule 8 (CEACAM8), mRNA. (from RefSeq NM_001816) ENST00000244336.1 ENST00000244336.2 ENST00000244336.3 ENST00000244336.4 ENST00000244336.5 ENST00000244336.6 ENST00000244336.7 ENST00000244336.8 ENST00000244336.9 NM_001816 Q0Z7S6 Q0Z7S6_HUMAN hCG_21882 uc002oud.1 uc002oud.2 uc002oud.3 uc002oud.4  uc002oud.1 uc002oud.2 uc002oud.3 uc002oud.4 
ENST00000244360.8 RNF39 ENST00000244360.8 Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA. (from RefSeq NM_025236) A2BEK3 A6NCD6 B0S858 ENST00000244360.1 ENST00000244360.2 ENST00000244360.3 ENST00000244360.4 ENST00000244360.5 ENST00000244360.6 ENST00000244360.7 HZFW NM_025236 Q5SPM8 Q5SPM9 Q5SPN0 Q5SRJ9 Q5SRK1 Q5SS29 Q9H2S3 Q9H2S4 Q9H2S5 RNF39_HUMAN uc003npe.1 uc003npe.2 uc003npe.3 uc003npe.4 uc003npe.5 This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. May play a role in prolonged long term-potentiation (LTP) maintenance (By similarity). Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=HZFW1; IsoId=Q9H2S5-1; Sequence=Displayed; Name=2; Synonyms=HZFW2; IsoId=Q9H2S5-2; Sequence=VSP_014242; Name=3; Synonyms=HZFW3; IsoId=Q9H2S5-3; Sequence=VSP_014240, VSP_014241; Note=Ref.1 (AAG40630) sequence differs from that show due to a frameshift in position 237; Expressed in testis. Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. cellular_component cytoplasm biological_process metal ion binding  uc003npe.1 uc003npe.2 uc003npe.3 uc003npe.4 uc003npe.5 
ENST00000244364.10 DST ENST00000244364.10 Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. (from RefSeq NM_015548) B7Z3H1 BP230 BP240 BPAG1 DMH DT DYST_HUMAN ENST00000244364.1 ENST00000244364.2 ENST00000244364.3 ENST00000244364.4 ENST00000244364.5 ENST00000244364.6 ENST00000244364.7 ENST00000244364.8 ENST00000244364.9 KIAA0728 NM_015548 O94833 Q03001 Q12825 Q13266 Q13267 Q13775 Q5TBT0 Q5TBT2 Q5TF23 Q5TF24 Q8N1T8 Q8N8J3 Q8WXK8 Q8WXK9 Q96AK9 Q96DQ5 Q96J76 Q96QT5 Q9H555 Q9UGD7 Q9UGD8 Q9UN10 uc003pcy.1 uc003pcy.2 uc003pcy.3 uc003pcy.4 uc003pcy.5 This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF400226.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin- containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two- dimensional mesh. Isoform 3: plays a structural role in the assembly of hemidesmosomes of epithelial cells; anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes. Required for the regulation of keratinocyte polarity and motility; mediates integrin ITGB4 regulation of RAC1 activity. Isoform 6: required for bundling actin filaments around the nucleus (By similarity). Isoform 7: regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Homodimer. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Interacts with the neuronal intermediate filament protein, PRPH. Interacts with DES. Interacts with C14orf49/Nesprin-3 (By similarity). Isoform 1 and isoform 6 can homodimerize (via N-terminus). Isoform 1 interacts (via N- terminus) with ACTN2. Isoform 1 interacts (via N-terminus) with PLEC (via N-terminus). Isoform 3 interacts (via N-terminus) with COL17A1 (via cytoplasmic region). Isoform 3 interacts (via N- terminus) with ITGB4 isoform beta-4a (via cytoplasmic region). Isoform 3 interacts (via N-terminus) with ERBB2IP (via C- terminus). Isoform 3 associates (via C-terminal) with KRT5-KRT14 (via rod region) intermadiate filaments of keratins. Interacts with MAPRE1; probably required for targeting to the growing microtubule plus ends. Interacts with TMIGD2. Q9UKG1:APPL1; NbExp=3; IntAct=EBI-310758, EBI-741243; Q9NRI5:DISC1; NbExp=5; IntAct=EBI-310758, EBI-529989; Q15691:MAPRE1; NbExp=2; IntAct=EBI-310758, EBI-1004115; Q96CV9:OPTN; NbExp=2; IntAct=EBI-310758, EBI-748974; Cytoplasm, cytoskeleton. Note=Associates with intermediate filaments, acin and microtubule cytoskeletons. Localizes to actin stress fibers and to actin-rich ruffling at the cortex of cells (By similarity). Associated at the growing distal tip of microtubules. Isoform 1: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, myofibril, sarcomere, Z line. Cytoplasm, myofibril, sarcomere, H zone (By similarity). Note=Localizes to microtubules and actin microfilaments throughout the cytoplasm and at focal contact attachments at the plasma membrane (By similarity). Isoform 2: Cytoplasm, cytoskeleton (By similarity). Note=Colocalizes both cortical and cytoplasmic actin filaments (By similarity). Isoform 3: Cytoplasm, cytoskeleton. Cell junction, hemidesmosome. Note=Localizes to actin and intermediate filaments cytoskeletons (By similarity). Colocalizes with the epidermal KRT5-KRT14 intermediate filaments network of keratins. Colocalizes with ITGB4 at the leading edge of migrating keratinocytes. Isoform 6: Nucleus (By similarity). Nucleus envelope. Membrane; Single-pass membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Cytoplasm, cytoskeleton. Membrane; Single-pass membrane protein. Note=Localizes to actin and intermediate filaments cytoskeletons. Localizes to central actin stress fibers around the nucleus and is excluded form focal contact sites in myoblast cells. Translocates to the nucleus (By similarity). Associates with actin cytoskeleton in sensory neurons. Isoform 7: Cytoplasm, cytoskeleton. Cell projection, axon. Membrane. Note=Associates with axonal microtubules and intermediate filaments, but not with actin cytoskeleton, in sensory neurons. Isoform 8: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cell cortex (By similarity). Cell membrane; Lipid-anchor (By similarity). Event=Alternative promoter usage, Alternative splicing; Named isoforms=8; Name=1; Synonyms=BPAG1-b; IsoId=Q03001-7; Sequence=Displayed; Note=No experimental confirmation available. Derived from EST data; Name=2; Synonyms=BPAG1-a, BPAG1eA, Dystonin-1, eA; IsoId=Q03001-8; Sequence=VSP_041525, VSP_041535, VSP_041539, VSP_041540; Name=3; Synonyms=BPAG1e, eBPAG1; IsoId=Q03001-3; Sequence=VSP_041525, VSP_041533, VSP_041534; Note=Ref.1 (M69225) sequence is in conflict in positions: 1644:R->T, 2364:S->T, 2495:G->V, 2543:N->K, 2621:A->P. Ref.13 (CAA41528) sequence is in conflict in position: 1943:G->R. Phosphorylated on Thr-1129 and Ser-1565 (By similarity); Name=4; Synonyms=BPAG1eA, eB; IsoId=Q03001-9; Sequence=VSP_041525, VSP_041536; Note=Incomplete sequence; Name=5; IsoId=Q03001-10; Sequence=VSP_041524, VSP_041537, VSP_041538; Note=Incomplete sequence. No experimental confirmation available. Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=6; Synonyms=BPAG1n1, BPAG1n2, Dystonin-2; IsoId=Q03001-11; Sequence=VSP_041528, VSP_041529; Note=Incomplete sequence. Transmembrane protein (helical transmembrane domain from amino acid 18 to 38). Ref.6 (AAC50244) sequence differs from that shown due to a frameshift in position 51. Ref.6 (AAC50244) sequence is in conflict in position: 48:P->L. Phosphorylated on Ser-166, Ser-168 and Ser-170; Name=7; Synonyms=BPAG1n3; IsoId=Q03001-12; Sequence=VSP_041526, VSP_041530; Note=Incomplete sequence; Name=8; IsoId=Q03001-13; Sequence=VSP_041527, VSP_041531, VSP_041532; Note=Probably myristoylated on Gly-2 (By similarity). Probably S-palmitoylated on Cys-5 and Cys-7 (By similarity); Isoform 1 is expressed in myoblasts (at protein level). Isoform 3 is expressed in the skin. Isoform 6 is expressed in the brain. Highly expressed in skeletal muscle and cultured keratinocytes. Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of these intermedaite filaments proteins and most likely involves recognition sites located in the rod domain of these keratins. The microtubule tip localization signal (MtLS) motif; mediates interaction with MAPRE1 and targeting to the growing microtubule plus ends. Defects in DST are the cause of hereditary sensory and autonomic neuropathy type 6 (HSAN6) [MIM:614653]. HSAN6 is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN6 is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection. Contains 1 actin-binding domain. Contains 2 CH (calponin-homology) domains. Contains 2 EF-hand domains. Contains 1 GAR domain. Contains 5 plectin repeats. Contains 1 SH3 domain. Contains 20 spectrin repeats. Sequence=AAA35538.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part; Sequence=AAA57185.1; Type=Erroneous gene model prediction; Sequence=BAB70870.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04449.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC04848.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI14341.1; Type=Erroneous gene model prediction; Sequence=CAI14989.1; Type=Erroneous gene model prediction; Sequence=CAI16609.1; Type=Erroneous gene model prediction; Sequence=CAI16610.1; Type=Erroneous gene model prediction; Sequence=CAI20330.1; Type=Erroneous gene model prediction; Sequence=CAI20332.1; Type=Erroneous gene model prediction; Sequence=CAI22044.1; Type=Erroneous gene model prediction; Sequence=CAI22045.1; Type=Erroneous gene model prediction; microtubule cytoskeleton organization actin binding integrin binding calcium ion binding protein binding basement membrane nucleus nuclear envelope cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol cytoskeleton microtubule intermediate filament plasma membrane focal adhesion cell cortex cytoskeleton organization cell adhesion integrin-mediated signaling pathway microtubule binding protein C-terminus binding retrograde axonal transport cytoskeletal protein binding response to wounding basal plasma membrane actin cytoskeleton microtubule cytoskeleton membrane integral component of membrane maintenance of cell polarity Z disc cell junction hemidesmosome axon cytoplasmic microtubule organization cell leading edge cytoplasmic vesicle hemidesmosome assembly H zone microtubule plus-end wound healing protein homodimerization activity cell projection intermediate filament cytoskeleton organization intermediate filament cytoskeleton metal ion binding cell motility microtubule plus-end binding axon cytoplasm  uc003pcy.1 uc003pcy.2 uc003pcy.3 uc003pcy.4 uc003pcy.5 
ENST00000244426.10 FBXO9 ENST00000244426.10 Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA. (from RefSeq NM_012347) A6NFW3 B3KMM6 ENST00000244426.1 ENST00000244426.2 ENST00000244426.3 ENST00000244426.4 ENST00000244426.5 ENST00000244426.6 ENST00000244426.7 ENST00000244426.8 ENST00000244426.9 FBX9 FBX9_HUMAN NM_012347 O75986 Q6PKH7 Q9NT57 Q9UK97 Q9Y593 VCIA1 uc063pbg.1 This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Directly interacts with SKP1 and CUL1 (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UK97-1; Sequence=Displayed; Name=2; IsoId=Q9UK97-2; Sequence=VSP_012979; Name=3; IsoId=Q9UK97-3; Sequence=VSP_012980; Note=No experimental confirmation available; Contains 1 F-box domain. Contains 1 TPR repeat. ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity protein binding cytoplasm cytosol protein ubiquitination SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process regulation of TOR signaling post-translational protein modification innate immune response fat cell differentiation  uc063pbg.1 
ENST00000244458.7 PACSIN1 ENST00000244458.7 Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA. (from RefSeq NM_020804) ENST00000244458.1 ENST00000244458.2 ENST00000244458.3 ENST00000244458.4 ENST00000244458.5 ENST00000244458.6 KIAA1379 NM_020804 PACN1_HUMAN Q9BY11 Q9P2G8 uc063nzw.1 uc063nzw.2 May play a role in vesicle formation and transport. Homo- and hetero-aggregates with other PACSINs. Binds dynamin I, synaptojanin, synapsin I and the neural Wiskott-Aldrich syndrome protein (N-WASP) (By similarity). Cytoplasm (By similarity). Note=Colocalizes with dynamin I at vesicular structures in the cell body and neurites (By similarity). Highly expressed in brain and in a lesser extent in heart, pancreas and liver. Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (Probable). Belongs to the PACSIN family. Contains 1 FCH domain. Contains 1 SH3 domain. Sequence=BAA92617.2; Type=Erroneous initiation; protein binding phospholipid binding cytoplasm cytosol cytoskeleton plasma membrane endocytosis cytoskeleton organization actin filament organization cytoskeletal protein binding lipid binding membrane cell junction COPI-coated vesicle cytoplasmic vesicle membrane cytoplasmic vesicle ruffle membrane identical protein binding cell projection neuron projection axon terminus synapse negative regulation of endocytosis perinuclear region of cytoplasm synaptic vesicle endocytosis neuron development neuron projection morphogenesis protein localization to membrane protein localization to plasma membrane plasma membrane tubulation presynaptic endocytic zone positive regulation of dendrite development  uc063nzw.1 uc063nzw.2 
ENST00000244496.6 RRP36 ENST00000244496.6 Homo sapiens ribosomal RNA processing 36 (RRP36), transcript variant 3, non-coding RNA. (from RefSeq NR_138081) C6orf153 ENST00000244496.1 ENST00000244496.2 ENST00000244496.3 ENST00000244496.4 ENST00000244496.5 HSPC253 NR_138081 Q96EU6 Q9BRF6 Q9P0C8 RRP36_HUMAN uc003otp.1 uc003otp.2 uc003otp.3 RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]. Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA. Nucleus, nucleolus. Note=Concentrated in the fibrillar region of the nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96EU6-1; Sequence=Displayed; Name=2; IsoId=Q96EU6-2; Sequence=VSP_020884; Note=No experimental confirmation available; Meningioma antigen. Belongs to the RRP36 family. Sequence=AAH06293.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) cleavage involved in rRNA processing RNA binding nucleus nucleoplasm nucleolus rRNA processing 90S preribosome ribosome biogenesis ribosomal small subunit biogenesis  uc003otp.1 uc003otp.2 uc003otp.3 
ENST00000244513.10 BTN1A1 ENST00000244513.10 May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity). (from UniProt Q13410) BT1A1_HUMAN BTN ENST00000244513.1 ENST00000244513.2 ENST00000244513.3 ENST00000244513.4 ENST00000244513.5 ENST00000244513.6 ENST00000244513.7 ENST00000244513.8 ENST00000244513.9 Q13410 Q4VAN3 Q4VAN4 Q9H458 U39576 uc003nif.1 uc003nif.2 uc003nif.3 uc003nif.4 uc003nif.5 May function in the secretion of milk-fat droplets. May act as a specific membrane-associated receptor for the association of cytoplasmic droplets with the apical plasma membrane (By similarity). Inhibits the proliferation of CD4 and CD8 T-cells activated by anti-CD3 antibodies, T-cell metabolism and IL2 and IFNG secretion (By similarity). Seems to associate with xanthine dehydrogenase/oxidase (By similarity). Membrane; Single-pass type I membrane protein. Secreted. N-glycosylated (By similarity). Belongs to the immunoglobulin superfamily. BTN/MOG family. Contains 1 B30.2/SPRY domain. Contains 2 Ig-like V-type (immunoglobulin-like) domains. receptor binding extracellular region extracellular space plasma membrane integral component of plasma membrane external side of plasma membrane membrane integral component of membrane signaling receptor activity regulation of immune response T cell receptor signaling pathway  uc003nif.1 uc003nif.2 uc003nif.3 uc003nif.4 uc003nif.5 
ENST00000244519.7 BTN3A3 ENST00000244519.7 Homo sapiens butyrophilin subfamily 3 member A3 (BTN3A3), transcript variant 1, mRNA. (from RefSeq NM_006994) BT3A3_HUMAN BTF3 ENST00000244519.1 ENST00000244519.2 ENST00000244519.3 ENST00000244519.4 ENST00000244519.5 ENST00000244519.6 NM_006994 O00478 uc003nhz.1 uc003nhz.2 uc003nhz.3 uc003nhz.4 The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]. Membrane; Single-pass type I membrane protein (By similarity). Belongs to the immunoglobulin superfamily. BTN/MOG family. Contains 1 B30.2/SPRY domain. Contains 2 Ig-like V-type (immunoglobulin-like) domains. adaptive immune response immune system process T cell mediated immunity receptor binding plasma membrane external side of plasma membrane membrane integral component of membrane regulation of immune response T cell receptor signaling pathway  uc003nhz.1 uc003nhz.2 uc003nhz.3 uc003nhz.4 
ENST00000244520.10 SNRPC ENST00000244520.10 Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA. (from RefSeq NM_003093) ENST00000244520.1 ENST00000244520.2 ENST00000244520.3 ENST00000244520.4 ENST00000244520.5 ENST00000244520.6 ENST00000244520.7 ENST00000244520.8 ENST00000244520.9 NM_003093 Q5TAL4 Q5TAL4_HUMAN RP3-375P9.1-001 hCG_16077 uc003ojt.1 uc003ojt.2 uc003ojt.3 uc003ojt.4 This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]. Component of the U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA (By similarity). Nucleus (By similarity). Belongs to the U1 small nuclear ribonucleoprotein C family. Contains 1 matrin-type zinc finger. commitment complex spliceosomal snRNP assembly mRNA 5'-splice site recognition mRNA splicing, via spliceosome nucleic acid binding RNA binding mRNA binding protein binding nucleus nucleoplasm U1 snRNP zinc ion binding U1 snRNA binding metal ion binding U2-type prespliceosome U1 snRNP binding  uc003ojt.1 uc003ojt.2 uc003ojt.3 uc003ojt.4 
ENST00000244527.10 SLC17A1 ENST00000244527.10 Homo sapiens solute carrier family 17 member 1 (SLC17A1), mRNA. (from RefSeq NM_005074) A8K418 ENST00000244527.1 ENST00000244527.2 ENST00000244527.3 ENST00000244527.4 ENST00000244527.5 ENST00000244527.6 ENST00000244527.7 ENST00000244527.8 ENST00000244527.9 NM_005074 NPT1 NPT1_HUMAN O60761 Q13783 Q14916 Q3MIP5 Q5MJP8 Q5TB83 Q96KL8 uc003nfh.1 uc003nfh.2 uc003nfh.3 uc003nfh.4 uc003nfh.5 uc003nfh.6 uc003nfh.7 Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Interacts with PDZK1 (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14916-1; Sequence=Displayed; Name=2; IsoId=Q14916-2; Sequence=VSP_035012; Note=No experimental confirmation available; Expressed in kidney cortex, liver and brain but not in other tissues. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. It is uncertain whether Met-1 or Met-3 is the initiator. Sequence=BAA05888.1; Type=Erroneous initiation; Sequence=CAI19543.1; Type=Erroneous initiation; plasma membrane integral component of plasma membrane ion transport sodium ion transport phosphate ion transport phosphate ion transmembrane transporter activity symporter activity sodium-dependent phosphate transmembrane transporter activity urate transport membrane integral component of membrane apical plasma membrane phosphate ion transmembrane transport sodium-dependent phosphate transport urate metabolic process transmembrane transport  uc003nfh.1 uc003nfh.2 uc003nfh.3 uc003nfh.4 uc003nfh.5 uc003nfh.6 uc003nfh.7 
ENST00000244533.7 ABCC10 ENST00000244533.7 Homo sapiens ATP binding cassette subfamily C member 10 (ABCC10), transcript variant 4, non-coding RNA. (from RefSeq NR_146762) ENST00000244533.1 ENST00000244533.2 ENST00000244533.3 ENST00000244533.4 ENST00000244533.5 ENST00000244533.6 MRP7 MRP7_HUMAN NR_146762 Q5T3U5 Q8NHX7 Q9H7N2 Q9NXY3 Q9UF48 SIMRP7 uc003ouz.1 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.64476.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158569 [ECO:0000348] ##Evidence-Data-END## ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion. Kinetic parameters: KM=57.8 uM for 17-beta-estradiol 17-(beta-D-glucuronide) (at 37 degrees Celsius); Vmax=20 pmol/min/mg enzyme toward 17-beta-estradiol 17-(beta-D- glucuronide) (at 37 degrees Celsius); Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Mrp7; IsoId=Q5T3U5-1; Sequence=Displayed; Name=2; Synonyms=Mrp7A; IsoId=Q5T3U5-2; Sequence=VSP_021078, VSP_021079, VSP_021080; Isoform 1 is specifically expressed in spleen. Isoform 2 is more widely expressed. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. Contains 2 ABC transmembrane type-1 domains. Contains 2 ABC transporter domains. Sequence=BAA92227.1; Type=Erroneous initiation; Sequence=BAB15736.1; Type=Miscellaneous discrepancy; Note=Intron retention; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q5T3U5"; nucleotide binding ATP binding lysosomal membrane plasma membrane membrane integral component of membrane ATPase activity ATPase activity, coupled to transmembrane movement of substances transmembrane transport  uc003ouz.1 
ENST00000244534.7 H1-3 ENST00000244534.7 Homo sapiens H1.3 linker histone, cluster member (H1-3), mRNA. (from RefSeq NM_005320) B2R751 ENST00000244534.1 ENST00000244534.2 ENST00000244534.3 ENST00000244534.4 ENST00000244534.5 ENST00000244534.6 H13_HUMAN H1F3 HIST1H1D NM_005320 P16402 Q2M2I2 uc003nhd.1 uc003nhd.2 uc003nhd.3 uc003nhd.4 uc003nhd.5 Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: AK312845.1, BC104874.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244534.7/ ENSP00000244534.6 RefSeq Select criteria :: based on single protein-coding transcript replication-dependent histone :: PMID: 12408966 ##RefSeq-Attributes-END## Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). Nucleus. Chromosome. Note=Mainly localizes in euchromatin. The C-terminal domain is required for high-affinity binding to chromatin (By similarity). H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter (By similarity). Belongs to the histone H1/H5 family. Contains 1 H15 (linker histone H1/H5 globular) domain. negative regulation of transcription from RNA polymerase II promoter nucleosome nuclear chromatin DNA binding double-stranded DNA binding RNA binding nucleus chromosome nuclear euchromatin nucleosome assembly regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter nucleosome positioning chromosome condensation chromatin DNA binding nucleosomal DNA binding negative regulation of chromatin silencing negative regulation of DNA recombination histone H3-K4 trimethylation histone H3-K27 trimethylation  uc003nhd.1 uc003nhd.2 uc003nhd.3 uc003nhd.4 uc003nhd.5 
ENST00000244537.6 H4C6 ENST00000244537.6 Homo sapiens H4 clustered histone 6 (H4C6), mRNA. (from RefSeq NM_003540) A2VCL0 ENST00000244537.1 ENST00000244537.2 ENST00000244537.3 ENST00000244537.4 ENST00000244537.5 H4/A H4/B H4/C H4/D H4/E H4/G H4/H H4/I H4/J H4/K H4/M H4/N H4/O H4F2 H4FA H4FB H4FC H4FD H4FE H4FG H4FH H4FI H4FJ H4FK H4FM H4FN H4FO H4_HUMAN HIST1H4A HIST1H4B HIST1H4C HIST1H4D HIST1H4E HIST1H4F HIST1H4H HIST1H4I HIST1H4J HIST1H4K HIST1H4L HIST2H4 HIST2H4A HIST2H4B HIST4H4 NM_003540 P02304 P02305 P62805 Q6DRA9 Q6FGB8 Q6NWP7 uc003nhe.1 uc003nhe.2 uc003nhe.3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC093763.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244537.6/ ENSP00000244537.6 RefSeq Select criteria :: based on single protein-coding transcript replication-dependent histone :: PMID: 12408966 ##RefSeq-Attributes-END## Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Q12830:BPTF; NbExp=3; IntAct=EBI-302023, EBI-1560273; Q12830-4:BPTF; NbExp=16; IntAct=EBI-302023, EBI-4288838; P49450:CENPA; NbExp=4; IntAct=EBI-302023, EBI-1751979; O14929:HAT1; NbExp=4; IntAct=EBI-302023, EBI-2339359; Q9Y468:L3MBTL1; NbExp=3; IntAct=EBI-302023, EBI-1265089; P49736:MCM2; NbExp=3; IntAct=EBI-302023, EBI-374819; P25205:MCM3; NbExp=2; IntAct=EBI-302023, EBI-355153; P33992:MCM5; NbExp=2; IntAct=EBI-302023, EBI-359410; O14744:PRMT5; NbExp=3; IntAct=EBI-302023, EBI-351098; Q16576:RBBP7; NbExp=4; IntAct=EBI-302023, EBI-352227; Q9NQR1:SETD8; NbExp=4; IntAct=EBI-302023, EBI-1268946; Nucleus. Chromosome. Acetylation at Lys-6 (H4K5ac), Lys-9 (H4K8ac), Lys-13 (H4K12ac) and Lys-17 (H4K16ac) occurs in coding regions of the genome but not in heterochromatin. Citrullination at Arg-4 (H4R3ci) by PADI4 impairs methylation. Monomethylation and asymmetric dimethylation at Arg-4 (H4R3me1 and H4R3me2a, respectively) by PRMT1 favors acetylation at Lys-9 (H4K8ac) and Lys-13 (H4K12ac). Demethylation is performed by JMJD6. Symmetric dimethylation on Arg-4 (H4R3me2s) by the PRDM1/PRMT5 complex may play a crucial role in the germ-cell lineage. Monomethylated, dimethylated or trimethylated at Lys-21 (H4K20me1, H4K20me2, H4K20me3). Monomethylation is performed by SET8. Trimethylation is performed by SUV420H1 and SUV420H2 and induces gene silencing. Phosphorylated by PAK2 at Ser-48 (H4S47ph). This phosphorylation increases the association of H3.3-H4 with the histone chaperone HIRA, thus promoting nucleosome assembly of H3.3-H4 and inhibiting nucleosome assembly of H3.1-H4. Ubiquitinated by the CUL4-DDB-RBX1 complex in response to ultraviolet irradiation. This may weaken the interaction between histones and DNA and facilitate DNA accessibility to repair proteins. Monoubiquitinated at Lys-92 of histone H4 (H4K91ub1) in response to DNA damage. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 Lys-21 methylation (H4K20me). Sumoylated, which is associated with transcriptional repression. Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Belongs to the histone H4 family. Sequence=AAI28106.1; Type=Frameshift; Positions=3; chromatin silencing at rDNA nuclear chromosome nuclear chromosome, telomeric region nucleosome nuclear nucleosome DNA binding RNA binding protein binding extracellular region nucleus nucleoplasm chromosome double-strand break repair via nonhomologous end joining nucleosome assembly DNA replication-dependent nucleosome assembly DNA replication-independent nucleosome assembly DNA-templated transcription, initiation membrane telomere capping protein domain specific binding telomere organization macromolecular complex CENP-A containing nucleosome assembly cellular protein metabolic process regulation of megakaryocyte differentiation negative regulation of megakaryocyte differentiation negative regulation of gene expression, epigenetic protein heterodimerization activity protein heterotetramerization regulation of gene silencing by miRNA extracellular exosome  uc003nhe.1 uc003nhe.2 uc003nhe.3 
ENST00000244546.4 PEX6 ENST00000244546.4 Homo sapiens peroxisomal biogenesis factor 6 (PEX6), transcript variant 3, non-coding RNA. (from RefSeq NR_133009) ENST00000244546.1 ENST00000244546.2 ENST00000244546.3 NR_133009 PEX6_HUMAN PXAAA1 Q13608 Q8WYQ2 Q99476 uc063ooi.1 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26. Interacts with ZFAND6. O43933:PEX1; NbExp=2; IntAct=EBI-988581, EBI-988601; Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes. Defects in PEX6 are the cause of peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]; also known as PBD-CGC. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX6 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Belongs to the AAA ATPase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX6"; Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX6"; nucleotide binding photoreceptor outer segment protein binding ATP binding cytoplasm peroxisome peroxisomal membrane cytosol protein targeting to peroxisome peroxisome organization protein C-terminus binding membrane protein import into peroxisome matrix protein import into peroxisome matrix, translocation ATPase activity ATPase activity, coupled cell projection macromolecular complex binding protein stabilization photoreceptor cell cilium  uc063ooi.1 
ENST00000244565.8 UNC5CL ENST00000244565.8 Homo sapiens unc-5 family C-terminal like (UNC5CL), mRNA. (from RefSeq NM_173561) ENST00000244565.1 ENST00000244565.2 ENST00000244565.3 ENST00000244565.4 ENST00000244565.5 ENST00000244565.6 ENST00000244565.7 NM_173561 Q5TGU1 Q8IV45 UN5CL_HUMAN ZUD uc003opi.1 uc003opi.2 uc003opi.3 uc003opi.4 uc003opi.5 Inhibits NF-kappa-B-dependent transcription by impairing NF-kappa-B binding to its targets. Interacts with p65/RELA and NFKB1. Membrane; Single-pass type III membrane protein (Potential). Cytoplasm. Expressed in pancreas, liver and kidney. Belongs to the unc-5 family. Contains 1 death domain. Contains 1 ZU5 domain. netrin receptor activity cytoplasm proteolysis signal transduction peptidase activity membrane integral component of membrane netrin-activated signaling pathway positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JNK cascade  uc003opi.1 uc003opi.2 uc003opi.3 uc003opi.4 uc003opi.5 
ENST00000244571.5 AARS2 ENST00000244571.5 Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (AARS2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_020745) A2RRN5 AARSL ENST00000244571.1 ENST00000244571.2 ENST00000244571.3 ENST00000244571.4 KIAA1270 NM_020745 Q5JTZ9 Q8N198 Q96D02 Q9ULF0 SYAM_HUMAN uc010jza.1 uc010jza.2 uc010jza.3 The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.55287.1, SRR1803613.100991.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000244571.5/ ENSP00000244571.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala- AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (By similarity). ATP + L-alanine + tRNA(Ala) = AMP + diphosphate + L-alanyl-tRNA(Ala). Binds 1 zinc ion per subunit (Potential). Monomer (By similarity). Mitochondrion. Consists of three domains; the N-terminal catalytic domain, the editing domain and the C-terminal C-Ala domain. The editing domain removes incorrectly charged amino acids, while the C-Ala domain, along with tRNA(Ala), serves as a bridge to cooperatively bring together the editing and aminoacylation centers thus stimulating deacylation of misacylated tRNAs (By similarity). Defects in AARS2 are the cause of combined oxidative phosphorylation deficiency type 8 (COXPD8) [MIM:614096]. A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. Belongs to the class-II aminoacyl-tRNA synthetase family. Sequence=BAA86584.1; Type=Erroneous initiation; tRNA binding nucleotide binding aminoacyl-tRNA editing activity nucleic acid binding RNA binding aminoacyl-tRNA ligase activity alanine-tRNA ligase activity ATP binding cytoplasm mitochondrion tRNA modification translation alanyl-tRNA aminoacylation zinc ion binding amino acid binding ligase activity tRNA aminoacylation metal ion binding mitochondrial alanyl-tRNA aminoacylation  uc010jza.1 uc010jza.2 uc010jza.3 
ENST00000244573.5 H1-1 ENST00000244573.5 Homo sapiens H1.1 linker histone, cluster member (H1-1), mRNA. (from RefSeq NM_005325) ENST00000244573.1 ENST00000244573.2 ENST00000244573.3 ENST00000244573.4 H11_HUMAN H1F1 HIST1H1A NM_005325 Q02539 Q3MJ34 uc003nfo.1 uc003nfo.2 uc003nfo.3 uc003nfo.4 uc003nfo.5 Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC112140.1, EL736229.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244573.5/ ENSP00000244573.4 RefSeq Select criteria :: based on single protein-coding transcript replication-dependent histone :: PMID: 12408966 ##RefSeq-Attributes-END## Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fiber. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibers. Acts also as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation (By similarity). Interacts with DFFB. Nucleus. Chromosome. Note=Mainly localizes in euchromatin. The C-terminal domain is required for high-affinity binding to chromatin. H1 histones are progressively phosphorylated during the cell cycle, becoming maximally phosphorylated during late G2 phase and M phase, and being dephosphorylated sharply thereafter (By similarity). Belongs to the histone H1/H5 family. Contains 1 H15 (linker histone H1/H5 globular) domain. nucleosome nuclear chromatin DNA binding double-stranded DNA binding protein binding nucleus chromosome nuclear euchromatin nucleosome assembly regulation of transcription, DNA-templated spermatogenesis heparin binding cell surface nucleosome positioning chromosome condensation chromatin DNA binding nucleosomal DNA binding negative regulation of chromatin silencing vesicle negative regulation of DNA recombination positive regulation of receptor-mediated endocytosis  uc003nfo.1 uc003nfo.2 uc003nfo.3 uc003nfo.4 uc003nfo.5 
ENST00000244576.9 ZNF391 ENST00000244576.9 Homo sapiens zinc finger protein 391 (ZNF391), transcript variant 4, mRNA. (from RefSeq NM_001322293) B4DH77 ENST00000244576.1 ENST00000244576.2 ENST00000244576.3 ENST00000244576.4 ENST00000244576.5 ENST00000244576.6 ENST00000244576.7 ENST00000244576.8 NM_001322293 Q9UJN7 ZN391_HUMAN uc003njf.1 uc003njf.2 uc003njf.3 May be involved in transcriptional regulation (By similarity). Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers. Sequence=CAB51755.1; Type=Erroneous initiation; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding metal ion binding  uc003njf.1 uc003njf.2 uc003njf.3 
ENST00000244623.1 OR2B6 ENST00000244623.1 Homo sapiens olfactory receptor family 2 subfamily B member 6 (OR2B6), mRNA. (from RefSeq NM_012367) NM_012367 O43883 OR2B1 OR2B1P OR2B5 OR2B6P OR2B6_HUMAN P58173 Q6IF89 Q9H5B0 uc011dkx.1 uc011dkx.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript is intronless :: BC109251.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244623.1/ ENSP00000244623.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR2B6"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc011dkx.1 uc011dkx.2 
ENST00000244645.7 TCP11 ENST00000244645.7 Homo sapiens t-complex 11 (TCP11), transcript variant 2, mRNA. (from RefSeq NM_018679) B2RCE9 B3KQ27 ENST00000244645.1 ENST00000244645.2 ENST00000244645.3 ENST00000244645.4 ENST00000244645.5 ENST00000244645.6 NM_018679 Q8NF85 Q8WWU5 Q9NQZ9 Q9NR39 TCP11_HUMAN uc003oka.1 uc003oka.2 uc003oka.3 uc003oka.4 May play an important role in sperm function and fertility. Membrane; Single-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=TCP11b; IsoId=Q8WWU5-1; Sequence=Displayed; Name=2; Synonyms=TCP11d; IsoId=Q8WWU5-2; Sequence=VSP_032186; Name=3; Synonyms=TCP11c; IsoId=Q8WWU5-3; Sequence=VSP_032185; Expressed only in fertile adult testis. Belongs to the TCP11 family. acrosomal vesicle protein binding cilium multicellular organism development spermatogenesis protein kinase A signaling membrane integral component of membrane cell differentiation cytoplasmic vesicle motile cilium sperm flagellum cell projection regulation of cAMP-mediated signaling sperm midpiece regulation of sperm capacitation  uc003oka.1 uc003oka.2 uc003oka.3 uc003oka.4 
ENST00000244669.3 APOBEC2 ENST00000244669.3 Homo sapiens apolipoprotein B mRNA editing enzyme catalytic subunit 2 (APOBEC2), mRNA. (from RefSeq NM_006789) ABEC2_HUMAN B2R899 ENST00000244669.1 ENST00000244669.2 NM_006789 Q53F28 Q5TGU5 Q5TGU6 Q9Y235 uc003opl.1 uc003opl.2 uc003opl.3 uc003opl.4 uc003opl.5 Probable C to U editing enzyme whose physiological substrate is not yet known. Does not display detectable apoB mRNA editing. Has a low intrinsic cytidine deaminase activity. May play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. Zinc (By similarity). Homotetramer. Expressed exclusively in heart and skeletal muscle. Belongs to the cytidine and deoxycytidylate deaminase family. RNA binding catalytic activity cytidine deaminase activity nucleus cytoplasm mRNA processing cytidine deamination cytidine to uridine editing mRNA modification hydrolase activity identical protein binding metal ion binding DNA demethylation  uc003opl.1 uc003opl.2 uc003opl.3 uc003opl.4 uc003opl.5 
ENST00000244670.12 KLHDC3 ENST00000244670.12 Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 3, non-coding RNA. (from RefSeq NR_040101) ENST00000244670.1 ENST00000244670.10 ENST00000244670.11 ENST00000244670.2 ENST00000244670.3 ENST00000244670.4 ENST00000244670.5 ENST00000244670.6 ENST00000244670.7 ENST00000244670.8 ENST00000244670.9 F8W6A4 F8W6A4_HUMAN NR_040101 uc003otn.1 uc003otn.2 uc003otn.3 uc003otn.4 The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleoplasm  uc003otn.1 uc003otn.2 uc003otn.3 uc003otn.4 
ENST00000244709.9 TREM1 ENST00000244709.9 Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA. (from RefSeq NM_018643) B4DWG2 ENST00000244709.1 ENST00000244709.2 ENST00000244709.3 ENST00000244709.4 ENST00000244709.5 ENST00000244709.6 ENST00000244709.7 ENST00000244709.8 NM_018643 Q53FL8 Q5T2C9 Q86YU1 Q9NP99 TREM1_HUMAN uc003oqf.1 uc003oqf.2 uc003oqf.3 uc003oqf.4 This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]. Stimulates neutrophil and monocyte-mediated inflammatory responses. Triggers release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Amplifier of inflammatory responses that are triggered by bacterial and fungal infections and is a crucial mediator of septic shock. Interacts with TYROBP/DAP12. Isoform 1: Cell membrane; Single-pass type I membrane protein (Potential). Isoform 2: Secreted (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NP99-1; Sequence=Displayed; Name=2; Synonyms=TREM-1sv, sTREM1; IsoId=Q9NP99-2; Sequence=VSP_010790, VSP_010791; Highly expressed in adult liver, lung and spleen than in corresponding fetal tissue. Also expressed in the lymph node, placenta, spinal cord and heart tissues. Expression is more elevated in peripheral blood leukocytes than in the bone marrow and in normal cells than malignant cells. Expressed at low levels in the early development of the hematopoietic system and in the promonocytic stage and at high levels in mature monocytes. Strongly expressed in acute inflammatory lesions caused by bacteria and fungi. Isoform 2 was detected in the lung, liver and mature monocytes. Up-regulated by bacteria, fungi and bacterial lipopolysaccharides (LPS). Glycosylated. Contains 1 Ig-like V-type (immunoglobulin-like) domain. acute inflammatory response extracellular region plasma membrane humoral immune response membrane integral component of membrane intracellular signal transduction signaling receptor activity innate immune response regulation of immune response leukocyte migration scaffold protein binding  uc003oqf.1 uc003oqf.2 uc003oqf.3 uc003oqf.4 
ENST00000244711.4 MEA1 ENST00000244711.4 Homo sapiens male-enhanced antigen 1 (MEA1), transcript variant 1, mRNA. (from RefSeq NM_014623) ENST00000244711.1 ENST00000244711.2 ENST00000244711.3 MEA MEA1_HUMAN NM_014623 Q16626 Q5TC36 Q9BV01 uc003otk.1 uc003otk.2 uc003otk.3 uc003otk.4 uc003otk.5 May play an important role in spermatogenesis and/or testis development. P63010:AP2B1; NbExp=2; IntAct=EBI-744921, EBI-432924; Highly expressed in testis. Was originally thought to be the H-Y antigen. It is uncertain whether Met-1, Met-14 or Met-24 is the initiator. protein binding multicellular organism development spermatogenesis male gonad development cell differentiation  uc003otk.1 uc003otk.2 uc003otk.3 uc003otk.4 uc003otk.5 
ENST00000244728.10 COL21A1 ENST00000244728.10 Homo sapiens collagen type XXI alpha 1 chain (COL21A1), transcript variant 8, non-coding RNA. (from RefSeq NR_134851) A6NIX5 B2R8J9 COL1AL COLA1_HUMAN ENST00000244728.1 ENST00000244728.2 ENST00000244728.3 ENST00000244728.4 ENST00000244728.5 ENST00000244728.6 ENST00000244728.7 ENST00000244728.8 ENST00000244728.9 FP633 NR_134851 Q49A51 Q71RF4 Q8WXV8 Q96P44 Q9H0V3 uc003pcs.1 uc003pcs.2 uc003pcs.3 uc003pcs.4 uc003pcs.5 This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Secreted, extracellular space, extracellular matrix. Cytoplasm. Note=Found in the extracellular matrix component of blood vessel walls and in the cytoplasm of cultured human aortic smooth muscle. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96P44-1; Sequence=Displayed; Name=2; IsoId=Q96P44-2; Sequence=VSP_031083, VSP_031085, VSP_031086; Note=No experimental confirmation available; Name=3; IsoId=Q96P44-3; Sequence=VSP_031084; Note=No experimental confirmation available; Highly expressed in lymph node, jejunum, pancreas, stomach, trachea, testis, uterus and placenta; moderately expressed in brain, colon, lung, prostate, spinal cord, salivary gland and vascular smooth-muscle cells and very weakly expressed in heart, liver, kidney, bone marrow, spleen, thymus, skeletal muscle, adrenal gland and peripheral leukocytes. Expression in heart was higher in the right ventricle and atrium than in the left ventricle and atrium. Highest expression observed at the fetal stage. Expressed by smooth-muscle cells in the artery wall in a PDGF-dependent way. Stimulated by PDGF/platelet-derived growth factor. Belongs to the fibril-associated collagens with interrupted helices (FACIT) family. Contains 7 collagen-like domains. Contains 1 laminin G-like domain. Contains 1 VWFA domain. Sequence=AAH45597.1; Type=Frameshift; Positions=478; extracellular region collagen trimer cytoplasm endoplasmic reticulum lumen cytosol extracellular matrix structural constituent conferring tensile strength  uc003pcs.1 uc003pcs.2 uc003pcs.3 uc003pcs.4 uc003pcs.5 
ENST00000244741.10 CDKN1A ENST00000244741.10 Homo sapiens cyclin dependent kinase inhibitor 1A (CDKN1A), transcript variant 9, mRNA. (from RefSeq NM_001374512) CAP20 CDKN1 CDN1A_HUMAN CIP1 ENST00000244741.1 ENST00000244741.2 ENST00000244741.3 ENST00000244741.4 ENST00000244741.5 ENST00000244741.6 ENST00000244741.7 ENST00000244741.8 ENST00000244741.9 MDA6 NM_001374512 P38936 PIC1 Q14010 Q9BUT4 SDI1 WAF1 uc003omm.1 uc003omm.2 uc003omm.3 uc003omm.4 uc003omm.5 uc003omm.6 This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.31961.1 [ECO:0000332] ##Evidence-Data-END## May be the important intermediate by which p53/TP53 mediates its role as an inhibitor of cellular proliferation in response to DNA damage. Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin- dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localization and assembly of cyclin D- CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex. Interacts with HDAC1; the interaction is prevented by competitive binding of C10orf90/FATS to HDAC1 facilitating acetylation and protein stabilization of CDKN1A/p21 (By similarity). Interacts with MKRN1. Interacts with PSMA3. Interacts with PCNA. Component of the ternary complex, cyclin D-CDK4-CDKN1A. Interacts (via its N-terminal domain) with CDK4; the interaction promotes the assembly of the cyclin D-CDK4 complex, its nuclear translocation and promotes the cyclin D-dependent enzyme activity of CDK4. Binding to CDK2 leads to CDK2/cyclin E inactivation at the G1-S phase DNA damage checkpoint, thereby arresting cells at the G1-S transition during DNA repair. Interacts with PIM1. P78396:CCNA1; NbExp=2; IntAct=EBI-375077, EBI-375065; P20248:CCNA2; NbExp=2; IntAct=EBI-375077, EBI-457097; P24385:CCND1; NbExp=5; IntAct=EBI-375077, EBI-375001; P30281:CCND3; NbExp=3; IntAct=EBI-375077, EBI-375013; P24864:CCNE1; NbExp=7; IntAct=EBI-375077, EBI-519526; O96020:CCNE2; NbExp=2; IntAct=EBI-375077, EBI-375033; O94921:CDK14; NbExp=7; IntAct=EBI-375077, EBI-1043945; P24941:CDK2; NbExp=9; IntAct=EBI-375077, EBI-375096; P11802:CDK4; NbExp=4; IntAct=EBI-375077, EBI-295644; Q00535:CDK5; NbExp=2; IntAct=EBI-375077, EBI-1041567; Q9BQ15:NABP2; NbExp=7; IntAct=EBI-375077, EBI-2120336; P12004:PCNA; NbExp=4; IntAct=EBI-375077, EBI-358311; Q96FS4:SIPA1; NbExp=2; IntAct=EBI-375077, EBI-1054981; Cytoplasm. Nucleus. Expressed in all adult tissues, with 5-fold lower levels observed in the brain. Activated by p53/TP53, mezerein (antileukemic compound) and IFNB1. Repressed by HDAC1. The PIP-box K+4 motif mediates both the interaction with PCNA and the recuitment of the DCX(DTL) complex: while the PIP-box interacts with PCNA, the presence of the K+4 submotif, recruits the DCX(DTL) complex, leading to its ubiquitination. The C-terminal is required for nuclear localization of the cyclin D-CDK4 complex. Phosphorylation of Thr-145 by Akt or of Ser-146 by PKC impairs binding to PCNA. Phosphorylation at Ser-114 by GSK3-beta enhances ubiquitination by the DCX(DTL) complex. Phosphorylation of Thr-145 by PIM2 enhances CDKN1A stability and inhibits cell proliferation. Phosphorylation of Thr-145 by PIM1 results in the relocation of CDKN1A to the cytoplasm and enhanced CDKN1A protein stability. Ubiquitinated by MKRN1; leading to polyubiquitination and 26S proteasome-dependent degradation. Ubiquitinated by the DCX(DTL) complex, also named CRL4(CDT2) complex, leading to its degradation during S phase or following UV irradiation. Ubiquitination by the DCX(DTL) complex is essential to control replication licensing and is PCNA-dependent: interacts with PCNA via its PIP-box, while the presence of the containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to its degradation. Acetylation leads to protein stability. Acetylated in vitro on Lys-141, Lys-154, Lys-161 and Lys-163. Deacetylation by HDAC1 is prevented by competitive binding of C10orf90/FATS to HDAC1 (By similarity). Belongs to the CDI family. Sequence=AAB59559.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAB59560.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CDKN1AID139.html"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdkn1a/"; regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle G2/M transition of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex protein kinase inhibitor activity cyclin-dependent protein serine/threonine kinase inhibitor activity protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein import into nucleus cellular response to DNA damage stimulus DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator cell cycle cell cycle arrest Ras protein signal transduction regulation of mitotic cell cycle heart development negative regulation of cell proliferation response to UV response to toxic substance response to organic substance response to X-ray response to organonitrogen compound negative regulation of gene expression positive regulation of cell death response to organic cyclic compound nuclear body cytokine-mediated signaling pathway protein kinase binding cyclin-dependent protein kinase activating kinase activity negative regulation of cell growth cyclin binding positive regulation of B cell proliferation animal organ regeneration ubiquitin protein ligase binding cellular response to extracellular stimulus macromolecular complex cellular response to amino acid starvation cellular response to heat tissue regeneration negative regulation of phosphorylation response to drug intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of apoptotic process positive regulation of programmed cell death macromolecular complex binding negative regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of protein kinase activity response to arsenic-containing substance metal ion binding positive regulation of fibroblast proliferation perinuclear region of cytoplasm protein stabilization response to glucocorticoid response to corticosterone regulation of cell cycle response to hyperoxia intestinal epithelial cell maturation PCNA-p21 complex cellular response to ionizing radiation cellular response to gamma radiation cellular response to UV-B mitotic cell cycle arrest signal transduction by p53 class mediator cellular senescence replicative senescence stress-induced premature senescence intrinsic apoptotic signaling pathway negative regulation of cyclin-dependent protein kinase activity positive regulation of cyclin-dependent protein kinase activity negative regulation of vascular smooth muscle cell proliferation negative regulation of cardiac muscle tissue regeneration negative regulation of G1/S transition of mitotic cell cycle regulation of DNA biosynthetic process positive regulation of reactive oxygen species metabolic process  uc003omm.1 uc003omm.2 uc003omm.3 uc003omm.4 uc003omm.5 uc003omm.6 
ENST00000244745.4 SOX4 ENST00000244745.4 Homo sapiens SRY-box transcription factor 4 (SOX4), mRNA. (from RefSeq NM_003107) ENST00000244745.1 ENST00000244745.2 ENST00000244745.3 NM_003107 Q06945 SOX4_HUMAN uc003ndi.1 uc003ndi.2 uc003ndi.3 uc003ndi.4 uc003ndi.5 uc003ndi.6 This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: X70683.1, SRR1163658.196647.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244745.4/ ENSP00000244745.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif. Interacts with UBE2I. Nucleus. Testis, brain, and heart. Contains 1 HMG box DNA-binding domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SOX4ID42358ch6p22.html"; nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development neural tube formation pro-B cell differentiation mitral valve morphogenesis cardiac ventricle formation cardiac right ventricle morphogenesis atrial septum primum morphogenesis noradrenergic neuron differentiation DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm mitochondrion regulation of transcription, DNA-templated DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest heart development positive regulation of cell proliferation negative regulation of cell proliferation glial cell proliferation spinal cord development spinal cord motor neuron differentiation glial cell development cell differentiation T cell differentiation endocrine pancreas development negative regulation of protein ubiquitination regulation of protein stability positive regulation of insulin secretion somatic stem cell population maintenance ascending aorta morphogenesis glucose homeostasis DNA damage response, detection of DNA damage positive regulation of apoptotic process nuclear transcription factor complex positive regulation of translation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter sympathetic nervous system development protein stabilization limb bud formation ventricular septum morphogenesis negative regulation of cell death neuroepithelial cell differentiation kidney morphogenesis cellular response to glucose stimulus positive regulation of canonical Wnt signaling pathway positive regulation of N-terminal peptidyl-lysine acetylation  uc003ndi.1 uc003ndi.2 uc003ndi.3 uc003ndi.4 uc003ndi.5 uc003ndi.6 
ENST00000244751.7 CPNE5 ENST00000244751.7 Homo sapiens copine 5 (CPNE5), transcript variant 1, mRNA. (from RefSeq NM_020939) CPNE5_HUMAN ENST00000244751.1 ENST00000244751.2 ENST00000244751.3 ENST00000244751.4 ENST00000244751.5 ENST00000244751.6 KIAA1599 NM_020939 Q9HCH3 uc003omr.1 uc003omr.2 uc003omr.3 Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]. May function in membrane trafficking. Exhibits calcium- dependent phospholipid binding properties (By similarity). Belongs to the copine family. Contains 2 C2 domains. Contains 1 VWFA domain. Sequence=BAB13425.1; Type=Erroneous initiation; molecular_function calcium-dependent phospholipid binding plasma membrane cell differentiation cell projection neuron projection neuronal cell body perikaryon extracellular exosome cellular response to calcium ion positive regulation of dendrite extension  uc003omr.1 uc003omr.2 uc003omr.3 
ENST00000244763.9 SSR1 ENST00000244763.9 Homo sapiens signal sequence receptor subunit 1 (SSR1), transcript variant 3, non-coding RNA. (from RefSeq NR_120448) A8K685 ENST00000244763.1 ENST00000244763.2 ENST00000244763.3 ENST00000244763.4 ENST00000244763.5 ENST00000244763.6 ENST00000244763.7 ENST00000244763.8 NR_120448 P43307 PSEC0262 Q53GX2 Q53H19 Q5TAM3 Q6IB43 Q8NBH9 Q96IA2 Q9TNQ8 Q9UN49 SSRA_HUMAN TRAPA uc003mxf.1 uc003mxf.2 uc003mxf.3 uc003mxf.4 uc003mxf.5 uc003mxf.6 uc003mxf.7 The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma. Interacts with palmitoylated calnexin (CALX), the interaction is required for efficient folding of glycosylated proteins. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43307-1; Sequence=Displayed; Name=2; IsoId=P43307-2; Sequence=VSP_013621; Note=No experimental confirmation available; Shows a remarkable charge distribution with the N-terminus being highly negatively charged, and the cytoplasmic C-terminus positively charged. Seems to bind calcium. Belongs to the TRAP-alpha family. Sequence=CAI16444.1; Type=Erroneous gene model prediction; protein binding endoplasmic reticulum endoplasmic reticulum membrane cotranslational protein targeting to membrane positive regulation of cell proliferation membrane integral component of membrane IRE1-mediated unfolded protein response  uc003mxf.1 uc003mxf.2 uc003mxf.3 uc003mxf.4 uc003mxf.5 uc003mxf.6 uc003mxf.7 
ENST00000244766.7 NRN1 ENST00000244766.7 Homo sapiens neuritin 1 (NRN1), transcript variant 1, mRNA. (from RefSeq NM_016588) B2RA93 ENST00000244766.1 ENST00000244766.2 ENST00000244766.3 ENST00000244766.4 ENST00000244766.5 ENST00000244766.6 NM_016588 NRN NRN1_HUMAN Q7Z4Y1 Q9NPD7 uc003mwu.1 uc003mwu.2 uc003mwu.3 uc003mwu.4 uc003mwu.5 This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Promotes neurite outgrowth and especially branching of neuritic processes in primary hippocampal and cortical cells (By similarity). Cell membrane; Lipid-anchor, GPI-anchor (Potential). Belongs to the neuritin family. extracellular region plasma membrane nervous system development membrane cell junction anchored component of membrane synapse  uc003mwu.1 uc003mwu.2 uc003mwu.3 uc003mwu.4 uc003mwu.5 
ENST00000244769.8 ATXN1 ENST00000244769.8 Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. (from RefSeq NM_000332) ATX1 ATX1_HUMAN ENST00000244769.1 ENST00000244769.2 ENST00000244769.3 ENST00000244769.4 ENST00000244769.5 ENST00000244769.6 ENST00000244769.7 NM_000332 P54253 Q17S02 Q9UJG2 Q9Y4J1 SCA1 uc003nbt.1 uc003nbt.2 uc003nbt.3 uc003nbt.4 The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]. Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function. Homooligomer. Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L, USP7 and ZNF804A. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding. Self; NbExp=3; IntAct=EBI-930964, EBI-930964; Q99700:ATXN2; NbExp=4; IntAct=EBI-930964, EBI-697691; Q6P1W5:C1orf94; NbExp=3; IntAct=EBI-930964, EBI-946029; O75909:CCNK; NbExp=2; IntAct=EBI-930964, EBI-739806; P23528:CFL1; NbExp=5; IntAct=EBI-930964, EBI-352733; Q96RK0:CIC; NbExp=5; IntAct=EBI-930964, EBI-945857; P38432:COIL; NbExp=6; IntAct=EBI-930975, EBI-945751; Q8N684:CPSF7; NbExp=2; IntAct=EBI-930964, EBI-746909; P46108:CRK; NbExp=2; IntAct=EBI-930964, EBI-886; Q15038:DAZAP2; NbExp=2; IntAct=EBI-930964, EBI-724310; Q8TE02:DERP6; NbExp=2; IntAct=EBI-930964, EBI-946189; Q9UKJ3:GPATCH8; NbExp=4; IntAct=EBI-930964, EBI-948259; P15822:HIVEP1; NbExp=6; IntAct=EBI-930964, EBI-722264; Q9UBD0:HSFX2; NbExp=3; IntAct=EBI-930964, EBI-947253; P53990:IST1; NbExp=2; IntAct=EBI-930964, EBI-945994; Q92993:KAT5; NbExp=3; IntAct=EBI-930964, EBI-399080; Q53G59:KLHL12; NbExp=2; IntAct=EBI-930964, EBI-740929; Q9H7H0:METTL17; NbExp=5; IntAct=EBI-930964, EBI-749353; O43809:NUDT21; NbExp=2; IntAct=EBI-930964, EBI-355720; Q9HAU0:PLEKHA5; NbExp=2; IntAct=EBI-930964, EBI-945934; P48634:PRRC2A; NbExp=4; IntAct=EBI-930964, EBI-347545; Q9NWB1:RBFOX1; NbExp=2; IntAct=EBI-930964, EBI-945906; O43251:RBFOX2; NbExp=6; IntAct=EBI-930964, EBI-746056; Q93062:RBPMS; NbExp=3; IntAct=EBI-930964, EBI-740322; Q15293:RCN1; NbExp=3; IntAct=EBI-930964, EBI-948278; Q8N196:SIX5; NbExp=4; IntAct=EBI-930964, EBI-946167; Q9NX95:SYBU; NbExp=3; IntAct=EBI-930964, EBI-948293; Q92609:TBC1D5; NbExp=2; IntAct=EBI-930964, EBI-742381; Q12933:TRAF2; NbExp=2; IntAct=EBI-930964, EBI-355744; Q13049:TRIM32; NbExp=2; IntAct=EBI-930964, EBI-742790; P26368:U2AF2; NbExp=4; IntAct=EBI-930964, EBI-742339; Q9NRR5:UBQLN4; NbExp=6; IntAct=EBI-930964, EBI-711226; Q70EL1:USP54; NbExp=3; IntAct=EBI-930964, EBI-946185; Q96N03:VSTM2L; NbExp=3; IntAct=EBI-930964, EBI-948213; Q9H869:YY1AP1; NbExp=4; IntAct=EBI-930964, EBI-946122; Q96K80:ZC3H10; NbExp=3; IntAct=EBI-930964, EBI-742550; Q9UKY1:ZHX1; NbExp=5; IntAct=EBI-930964, EBI-347767; Q96MN9:ZNF488; NbExp=3; IntAct=EBI-930964, EBI-948288; Cytoplasm (By similarity). Nucleus. Note=Colocalizes with USP7 in the nucleus. Event=Alternative splicing; Named isoforms=1; Comment=At least 2 isoforms are produced; Name=1; IsoId=P54253-1; Sequence=Displayed; Widely expressed throughout the body. The AXH domain is required for interaction with CIC (By similarity). Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract. Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract. The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients. Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. Self-association seems to be necessary for formation of nuclear aggregates which are associated with pathogenesis. Belongs to the ATXN1 family. Contains 1 AXH domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN1"; Name=Wikipedia; Note=Ataxin-1 entry; URL="http://en.wikipedia.org/wiki/Ataxin_1"; negative regulation of transcription from RNA polymerase II promoter DNA binding RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol regulation of transcription, DNA-templated RNA processing nervous system development brain development learning memory protein C-terminus binding poly(U) RNA binding nuclear matrix poly(G) binding social behavior nuclear inclusion body identical protein binding protein self-association negative regulation of transcription, DNA-templated anatomical structure development nuclear export  uc003nbt.1 uc003nbt.2 uc003nbt.3 uc003nbt.4 
ENST00000244776.11 DEK ENST00000244776.11 Homo sapiens DEK proto-oncogene (DEK), transcript variant 2, mRNA. (from RefSeq NM_001134709) B2R6K6 B4DN37 DEK_HUMAN ENST00000244776.1 ENST00000244776.10 ENST00000244776.2 ENST00000244776.3 ENST00000244776.4 ENST00000244776.5 ENST00000244776.6 ENST00000244776.7 ENST00000244776.8 ENST00000244776.9 NM_001134709 P35659 Q5TGV4 Q5TGV5 uc011djf.1 uc011djf.2 This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. Involved in chromatin organization. Found in a mRNA splicing-dependent exon junction complex (EJC) with DEK, RBM8A, RNPS1, SRRM1 and ALYREF/THOC4. Interacts with histones H2A, H2B, H3, H4, acetylated histone H4, non- phosphorylated DAXX and HDAC2. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Binds DNA. Nucleus. Note=Enriched in regions where chromatin is decondensed or sparse in the interphase nuclei. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35659-1; Sequence=Displayed; Name=2; IsoId=P35659-2; Sequence=VSP_042951; Note=No experimental confirmation available; Ubiquitous. Expressed at relatively high levels. Phosphorylated by CK2. Phosphorylation fluctuates during the cell cycle with a moderate peak during G(1) phase, and weakens the binding of DEK to DNA. Note=A chromosomal aberration involving DEK is found in a subset of acute myeloid leukemia (AML); also known as acute non- lymphocytic leukemia. Translocation t(6;9)(p23;q34) with NUP214/CAN. It results in the formation of a DEK-CAN fusion gene. Contains 1 SAP domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DEK_23.html"; DNA binding RNA binding nucleus nucleoplasm chromatin organization regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter signal transduction viral genome replication histone binding positive regulation of gene expression, epigenetic regulation of double-strand break repair  uc011djf.1 uc011djf.2 
ENST00000244777.6 BLOC1S5 ENST00000244777.6 biogenesis of lysosomal organelles complex 1 subunit 5 (from HGNC BLOC1S5) BX647336 ENST00000244777.1 ENST00000244777.2 ENST00000244777.3 ENST00000244777.4 ENST00000244777.5 G5E931 G5E931_HUMAN hCG_15560 uc063lrw.1 transport vesicle BLOC-1 complex  uc063lrw.1 
ENST00000244799.4 OPN5 ENST00000244799.4 Homo sapiens opsin 5 (OPN5), transcript variant 2, non-coding RNA. (from RefSeq NR_033806) ENST00000244799.1 ENST00000244799.2 ENST00000244799.3 NR_033806 uc003ozd.1 uc003ozd.2 uc003ozd.3 uc003ozd.4 Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010].  uc003ozd.1 uc003ozd.2 uc003ozd.3 uc003ozd.4 
ENST00000244815.9 LRRFIP1 ENST00000244815.9 Homo sapiens LRR binding FLII interacting protein 1 (LRRFIP1), transcript variant 4, mRNA. (from RefSeq NM_004735) ENST00000244815.1 ENST00000244815.2 ENST00000244815.3 ENST00000244815.4 ENST00000244815.5 ENST00000244815.6 ENST00000244815.7 ENST00000244815.8 GCF2 LRRF1_HUMAN NM_004735 O75766 O75799 Q32MZ4 Q32MZ5 Q53T49 Q6PKG2 TRIP uc002vxd.1 uc002vxd.2 uc002vxd.3 uc002vxd.4 Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding. Interacts with FLII. Interacts with MYD88. Competes with FLII for MyD88-binding, even in the absence of LPS. Q13045:FLII; NbExp=2; IntAct=EBI-1369100, EBI-351549; Nucleus. Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q32MZ4-1; Sequence=Displayed; Name=2; IsoId=Q32MZ4-2; Sequence=VSP_020265; Name=3; IsoId=Q32MZ4-3; Sequence=VSP_020264, VSP_020265; Ubiquitously expressed. Widely expressed in fetal tissues. Belongs to the LRRFIP family. Sequence=AAH01385.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAY14672.1; Type=Erroneous gene model prediction; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded RNA binding protein binding nucleus cytoplasm cytosol cytoskeleton plasma membrane regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter positive regulation of type I interferon production protein homodimerization activity cadherin binding negative regulation of transcription, DNA-templated positive regulation of NF-kappaB transcription factor activity  uc002vxd.1 uc002vxd.2 uc002vxd.3 uc002vxd.4 
ENST00000244820.2 ENSG00000124835 ENST00000244820.2 Homo sapiens uncharacterized LOC93463 (LOC93463), long non-coding RNA. (from RefSeq NR_135202) ENST00000244820.1 NR_135202 uc061tze.1  uc061tze.1 
ENST00000244869.3 EREG ENST00000244869.3 Homo sapiens epiregulin (EREG), mRNA. (from RefSeq NM_001432) B2RC66 ENST00000244869.1 ENST00000244869.2 EREG_HUMAN NM_001432 O14944 Q6FH69 uc003hie.1 uc003hie.2 uc003hie.3 This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D30783.1, BC136404.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244869.3/ ENSP00000244869.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Ligand of the EGF receptor/EGFR and ERBB4. May be a mediator of localized cell proliferation. As a mitogen it may stimulate cell proliferation and/or angiogenesis. Interacts with EGFR and ERBB4. Epiregulin: Secreted, extracellular space. Proepiregulin: Cell membrane; Single-pass type I membrane protein. In normal adults, expressed predominantly in the placenta and peripheral blood leukocytes. High levels were detected in carcinomas of the bladder, lung, kidney and colon. Contains 1 EGF-like domain. MAPK cascade angiogenesis ovarian cumulus expansion oocyte maturation positive regulation of cytokine production epidermal growth factor receptor binding protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane female meiotic division signal transduction epidermal growth factor receptor signaling pathway cell-cell signaling multicellular organism development growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation mRNA transcription anatomical structure morphogenesis animal organ morphogenesis membrane integral component of membrane cytokine-mediated signaling pathway cell differentiation keratinocyte differentiation clathrin-coated vesicle membrane ovulation ERBB2 signaling pathway negative regulation of epidermal growth factor receptor signaling pathway wound healing positive regulation of cytokine biosynthetic process positive regulation of phosphorylation luteinizing hormone signaling pathway response to peptide hormone keratinocyte proliferation positive regulation of innate immune response positive regulation of interleukin-6 biosynthetic process positive regulation of DNA replication positive regulation of epidermal growth factor-activated receptor activity positive regulation of mitotic nuclear division positive regulation of protein kinase activity negative regulation of transcription, DNA-templated positive regulation of fibroblast proliferation primary follicle stage positive regulation of smooth muscle cell proliferation negative regulation of epithelial cell proliferation negative regulation of smooth muscle cell differentiation positive regulation of cell division positive regulation of protein kinase B signaling membrane organization regulation of cell motility  uc003hie.1 uc003hie.2 uc003hie.3 
ENST00000244891.3 TRIM51 ENST00000244891.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSJ1-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ1-2; Sequence=VSP_039765; (from UniProt Q9BSJ1) A6NMG2 BC005014 ENST00000244891.1 ENST00000244891.2 Q9BSJ1 SPRYD5 TRI51_HUMAN uc010riq.1 uc010riq.2 uc010riq.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSJ1-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ1-2; Sequence=VSP_039765; Belongs to the TRIM/RBCC family. Contains 1 B box-type zinc finger. Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. Sequence=AAH05014.1; Type=Erroneous initiation; Note=Translation N-terminally extended; zinc ion binding metal ion binding  uc010riq.1 uc010riq.2 uc010riq.3 
ENST00000244906.6 MYRF-AS1 ENST00000244906.6 Homo sapiens MYRF antisense RNA 1 (MYRF-AS1), long non-coding RNA. (from RefSeq NR_026882) ENST00000244906.1 ENST00000244906.2 ENST00000244906.3 ENST00000244906.4 ENST00000244906.5 NR_026882 uc058cdw.1  uc058cdw.1 
ENST00000244926.4 SCGB1D2 ENST00000244926.4 Homo sapiens secretoglobin family 1D member 2 (SCGB1D2), mRNA. (from RefSeq NM_006551) ENST00000244926.1 ENST00000244926.2 ENST00000244926.3 LIPHB NM_006551 O95969 Q2M3N9 SG1D2_HUMAN uc001ntb.1 uc001ntb.2 uc001ntb.3 uc001ntb.4 uc001ntb.5 The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL708956.1, BP314377.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000244926.4/ ENSP00000244926.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. Secreted (Potential). Highest expression was found in skeletal muscle. Expressed as well in thymus, trachea, kidney, steroid responsive tissues (prostate, testis, uterus, breast and ovary) and salivary gland. Belongs to the secretoglobin family. Lipophilin subfamily. extracellular region extracellular space  uc001ntb.1 uc001ntb.2 uc001ntb.3 uc001ntb.4 uc001ntb.5 
ENST00000244930.6 SCGB2A1 ENST00000244930.6 Homo sapiens secretoglobin family 2A member 1 (SCGB2A1), mRNA. (from RefSeq NM_002407) ENST00000244930.1 ENST00000244930.2 ENST00000244930.3 ENST00000244930.4 ENST00000244930.5 LIPHC MGB2 NM_002407 O75556 SG2A1_HUMAN UGB3 uc001nta.1 uc001nta.2 uc001nta.3 May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones. Heterodimer of a lipophilin A and a lipophilin C (mammaglobin B) monomer associated head to head. Expressed in thymus, trachea, kidney, steroid responsive tissues (prostate, testis, uterus, breast and ovary) and salivary gland. Mass=8854.94; Method=Electrospray; Range=19-95; Source=PubMed:9720917; Belongs to the secretoglobin family. Lipophilin subfamily. extracellular region extracellular space androgen receptor signaling pathway protein heterodimerization activity  uc001nta.1 uc001nta.2 uc001nta.3 
ENST00000245046.7 EMC3 ENST00000245046.7 Component of the ER membrane protein complex (EMC). (from UniProt Q9P0I2) B2R4Z9 EMC3_HUMAN ENST00000245046.1 ENST00000245046.2 ENST00000245046.3 ENST00000245046.4 ENST00000245046.5 ENST00000245046.6 NM_001394674 Q53GH8 Q6ZMC2 Q9P0I2 TMEM111 uc003bun.1 uc003bun.2 uc003bun.3 uc003bun.4 uc003bun.5 Component of the ER membrane protein complex (EMC). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P0I2-1; Sequence=Displayed; Name=2; IsoId=Q9P0I2-2; Sequence=VSP_014886; Note=No experimental confirmation available; Belongs to the EMC3 family. Sequence=BAD18807.1; Type=Erroneous termination; Positions=222; Note=Translated as Trp; molecular_function biological_process membrane integral component of membrane ER membrane protein complex  uc003bun.1 uc003bun.2 uc003bun.3 uc003bun.4 uc003bun.5 
ENST00000245105.8 SH3TC1 ENST00000245105.8 Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), transcript variant 1, mRNA. (from RefSeq NM_018986) ENST00000245105.1 ENST00000245105.2 ENST00000245105.3 ENST00000245105.4 ENST00000245105.5 ENST00000245105.6 ENST00000245105.7 NM_018986 Q4W5G5 Q8TE82 S3TC1_HUMAN uc003gkv.1 uc003gkv.2 uc003gkv.3 uc003gkv.4 uc003gkv.5 uc003gkv.6 Contains 1 SH3 domain. Contains 9 TPR repeats. cellular_component biological_process  uc003gkv.1 uc003gkv.2 uc003gkv.3 uc003gkv.4 uc003gkv.5 uc003gkv.6 
ENST00000245121.10 KATNAL2 ENST00000245121.10 Homo sapiens katanin catalytic subunit A1 like 2 (KATNAL2), transcript variant 5, mRNA. (from RefSeq NM_031303) ENST00000245121.1 ENST00000245121.2 ENST00000245121.3 ENST00000245121.4 ENST00000245121.5 ENST00000245121.6 ENST00000245121.7 ENST00000245121.8 ENST00000245121.9 KATL2_HUMAN NM_031303 Q8IYT4 uc002lco.1 uc002lco.2 uc002lco.3 uc002lco.4 Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays (By similarity). ATP + H(2)O = ADP + phosphate. Cytoplasm, cytoskeleton (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IYT4-1; Sequence=Displayed; Name=2; IsoId=Q8IYT4-2; Sequence=VSP_033523; Belongs to the AAA ATPase family. Katanin p60 subunit A1 subfamily. A-like 2 sub-subfamily. Contains 1 LisH domain. Sequence=BI560635; Type=Frameshift; Positions=183, 188, 200, 203; nucleotide binding spindle pole protein binding ATP binding nucleus cytoplasm spindle cytoskeleton microtubule microtubule binding microtubule-severing ATPase activity isomerase activity ATPase activity cytoplasmic microtubule organization microtubule severing  uc002lco.1 uc002lco.2 uc002lco.3 uc002lco.4 
ENST00000245157.11 BBS2 ENST00000245157.11 Homo sapiens Bardet-Biedl syndrome 2 (BBS2), transcript variant 1, mRNA. (from RefSeq NM_031885) BBS2_HUMAN ENST00000245157.1 ENST00000245157.10 ENST00000245157.2 ENST00000245157.3 ENST00000245157.4 ENST00000245157.5 ENST00000245157.6 ENST00000245157.7 ENST00000245157.8 ENST00000245157.9 NM_031885 Q96CM0 Q96SN9 Q9BXC9 uc002ejd.1 uc002ejd.2 uc002ejd.3 uc002ejd.4 uc002ejd.5 This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B. P05062:ALDOB; NbExp=4; IntAct=EBI-748297, EBI-1045507; Q8NFJ9:BBS1; NbExp=6; IntAct=EBI-748297, EBI-1805484; Q8IWZ6:BBS7; NbExp=11; IntAct=EBI-748297, EBI-1806001; Q3SYG4:BBS9; NbExp=9; IntAct=EBI-748297, EBI-2826852; Q9NPJ1:MKKS; NbExp=4; IntAct=EBI-748297, EBI-721319; Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. Widely expressed. Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. Name=Mutations of the BBS2 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/bbs2mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS2"; RNA polymerase II repressing transcription factor binding protein binding cytoplasm microtubule organizing center cytosol cytoskeleton plasma membrane microvillus cilium sperm axoneme assembly visual perception protein localization negative regulation of gene expression artery smooth muscle contraction protein transport membrane striatum development hippocampus development cerebral cortex development cell projection organization adult behavior motile cilium melanosome transport stereocilium leptin-mediated signaling pathway protein localization to organelle BBSome ciliary basal body negative regulation of appetite by leptin-mediated signaling pathway negative regulation of multicellular organism growth positive regulation of multicellular organism growth vasodilation cell projection Golgi to plasma membrane protein transport neuron projection response to leptin fat cell differentiation photoreceptor cell maintenance brain morphogenesis response to stimulus cartilage development ciliary membrane cilium assembly regulation of cilium beat frequency involved in ciliary motility non-motile cilium assembly  uc002ejd.1 uc002ejd.2 uc002ejd.3 uc002ejd.4 uc002ejd.5 
ENST00000245185.6 MT2A ENST00000245185.6 Homo sapiens metallothionein 2A (MT2A), mRNA. (from RefSeq NM_005953) CES1 ENST00000245185.1 ENST00000245185.2 ENST00000245185.3 ENST00000245185.4 ENST00000245185.5 MT2 MT2_HUMAN NM_005953 P02795 Q14823 Q2HXR9 Q53XT9 uc002ejh.1 uc002ejh.2 uc002ejh.3 uc002ejh.4 uc002ejh.5 This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM739923.1, BM817906.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245185.6/ ENSP00000245185.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids. Q8TE69:CXorf40A; NbExp=2; IntAct=EBI-996616, EBI-996609; Q15139:PRKD1; NbExp=7; IntAct=EBI-996616, EBI-1181072; P58062:SPINK7; NbExp=7; IntAct=EBI-996616, EBI-1182445; Class I metallothioneins contain 2 metal-binding domains: four divalent ions are chelated within cluster A of the alpha domain and are coordinated via cysteinyl thiolate bridges to 11 cysteine ligands. Cluster B, the corresponding region within the beta domain, can ligate three divalent ions to 9 cysteines. This metallothionein binds zinc. Belongs to the metallothionein superfamily. Type 1 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mt2a/"; protein binding nucleus cytoplasm cytosol cellular copper ion homeostasis cellular zinc ion homeostasis nitric oxide mediated signal transduction drug binding zinc ion binding response to bacterium response to metal ion detoxification of copper ion cellular response to drug cellular response to interleukin-3 cellular response to erythropoietin negative regulation of growth metal ion binding perinuclear region of cytoplasm interferon-gamma-mediated signaling pathway cellular response to cadmium ion cellular response to copper ion cellular response to zinc ion  uc002ejh.1 uc002ejh.2 uc002ejh.3 uc002ejh.4 uc002ejh.5 
ENST00000245206.10 GOT2 ENST00000245206.10 Homo sapiens glutamic-oxaloacetic transaminase 2 (GOT2), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_002080) AATM_HUMAN ENST00000245206.1 ENST00000245206.2 ENST00000245206.3 ENST00000245206.4 ENST00000245206.5 ENST00000245206.6 ENST00000245206.7 ENST00000245206.8 ENST00000245206.9 NM_002080 P00505 Q53FL3 Q9BWA3 uc002eof.1 uc002eof.2 uc002eof.3 Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. Catalyzes the irreversible transamination of the L- tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Plays a key role in amino acid metabolism. Important for metabolite exchange between mitochondria and cytosol. Facilitates cellular uptake of long-chain free fatty acids. L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate. L-kynurenine + 2-oxoglutarate = 4-(2- aminophenyl)-2,4-dioxobutanoate + L-glutamate. Pyridoxal phosphate. Homodimer. Mitochondrion matrix. Cell membrane. Note=Exposure to alcohol promotes translocation to the cell membrane. Up-regulated by long-time exposure to alcohol. In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. RNA binding catalytic activity L-aspartate:2-oxoglutarate aminotransferase activity phospholipid binding mitochondrion mitochondrial inner membrane mitochondrial matrix plasma membrane gluconeogenesis 2-oxoglutarate metabolic process oxaloacetate metabolic process cellular amino acid metabolic process aspartate metabolic process aspartate biosynthetic process aspartate catabolic process glutamate metabolic process lipid transport female pregnancy lactation transaminase activity cellular amino acid biosynthetic process biosynthetic process cell surface response to muscle activity fatty acid transport membrane kynurenine-oxoglutarate transaminase activity amino acid binding transferase activity 4-hydroxyproline catabolic process glutamate catabolic process to aspartate glutamate catabolic process to 2-oxoglutarate enzyme binding pyridoxal phosphate binding T-tubule carboxylic acid binding response to insulin macromolecular complex sarcolemma protein homodimerization activity perikaryon response to morphine dicarboxylic acid metabolic process response to ethanol glyoxylate metabolic process extracellular exosome L-kynurenine metabolic process  uc002eof.1 uc002eof.2 uc002eof.3 
ENST00000245222.9 SPHK2 ENST00000245222.9 Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 1, mRNA. (from RefSeq NM_020126) ENST00000245222.1 ENST00000245222.2 ENST00000245222.3 ENST00000245222.4 ENST00000245222.5 ENST00000245222.6 ENST00000245222.7 ENST00000245222.8 NM_020126 Q9BRN1 Q9H0Q2 Q9NRA0 Q9NWU7 SPHK2_HUMAN uc002pjr.1 uc002pjr.2 uc002pjr.3 uc002pjr.4 uc002pjr.5 This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]. Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro- dihydrosphingosine, D-erythro-sphingosine and L-threo- dihydrosphingosine. Binds phosphoinositides. ATP + sphinganine = ADP + sphinganine 1- phosphate. ATP + sphingosine = ADP + sphingosine 1- phosphate. Magnesium (By similarity). Inhibited by sulfatide. Kinetic parameters: KM=3.4 uM for sphingosine; pH dependence: Optimum pH is 7.5; Isoform 1: Cytoplasm. Membrane. Isoform 2: Lysosome membrane. Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9NRA0-1; Sequence=Displayed; Name=2; IsoId=Q9NRA0-2; Sequence=VSP_006217; Name=3; IsoId=Q9NRA0-3; Sequence=VSP_006217, VSP_006218; Contains 1 DAGKc domain. nucleotide binding nucleosome blood vessel development cytokine secretion involved in immune response sphingosine-1-phosphate signaling pathway NAD+ kinase activity protein binding ATP binding nucleus cytoplasm mitochondrion mitochondrial inner membrane lysosome lysosomal membrane endoplasmic reticulum cytosol sphinganine-1-phosphate biosynthetic process sphingosine metabolic process brain development female pregnancy cell proliferation positive regulation of cell proliferation sphinganine kinase activity membrane kinase activity phosphorylation transferase activity Ras GTPase binding D-erythro-sphingosine kinase activity sphingolipid biosynthetic process negative regulation of cell growth negative regulation of histone deacetylation nucleosomal histone binding positive regulation of mast cell activation involved in immune response sphingosine-1-phosphate receptor activity positive regulation of apoptotic process negative regulation of apoptotic process regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle positive regulation of mast cell degranulation histone H2A-K5 acetylation histone H2B-K12 acetylation positive regulation of gene expression, epigenetic sphingosine biosynthetic process lipid phosphorylation interleukin-6 secretion interleukin-13 secretion positive regulation of protein kinase C signaling positive regulation of calcium ion import negative regulation of histone deacetylase activity regulation of reactive oxygen species biosynthetic process cellular response to phorbol 13-acetate 12-myristate regulation of cytochrome-c oxidase activity tumor necrosis factor secretion positive regulation of ceramide biosynthetic process positive regulation of histone H3-K9 acetylation regulation of ATP biosynthetic process  uc002pjr.1 uc002pjr.2 uc002pjr.3 uc002pjr.4 uc002pjr.5 
ENST00000245255.7 PIWIL1 ENST00000245255.7 Homo sapiens piwi like RNA-mediated gene silencing 1 (PIWIL1), transcript variant 1, mRNA. (from RefSeq NM_004764) A4F266 ENST00000245255.1 ENST00000245255.2 ENST00000245255.3 ENST00000245255.4 ENST00000245255.5 ENST00000245255.6 HIWI NM_004764 O95404 PIWL1_HUMAN Q8NA60 Q8TBY5 Q96J94 Q96JD5 uc001uik.1 uc001uik.2 uc001uik.3 uc001uik.4 This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]. Plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer- independent mechanism and are primarily derived from transposons and other repeated sequence elements. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Probable component of some RISC complex, which mediates RNA cleavage and translational silencing. Also plays a role in the formation of chromatoid bodies and is required for some miRNAs stability (By similarity). Isoform 3 may be a negative developmental regulator. Interacts (via Piwi domain) with DICER1, suggesting that it forms ribonucleoprotein RISC complexes. This interaction is regulated by HSP90AB1 activity. Interacts with MAEL, KIF17, PABPC1, PRMT5 and WDR77. Interacts (when methylated on arginine residues) with TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9 (By similarity). Q9UPY3:DICER1; NbExp=2; IntAct=EBI-527417, EBI-395506; Cytoplasm (By similarity). Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis. Also present in chromatoid body (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96J94-1; Sequence=Displayed; Name=2; IsoId=Q96J94-2; Sequence=VSP_018368, VSP_018369; Name=3; IsoId=Q96J94-3; Sequence=VSP_018366, VSP_018367; Detected in most fetal and adult tissues. Expressed in testes, specifically in germline cells; detected in spermatocytes and spermatids during spermatogenesis. Increased expression in testicular tumors originating from embryonic germ cells with retention of germ cells phenotype. No expression in testicular tumors of somatic origin, such as Sertoli cell and Leydig cell tumors. Overexpressed in gastric cancer cells. Isoform 3 is ubiquitously expressed, and specifically in CD34+ hematopoietic progenitor cells but not in more differentiated cells. Isoform 3 is down-regulated in CD34(+) hematopoietic cells during differentiation. The PAZ domain specifically recognizes binds the 2'-O- methylated 3'-end of piRNAs. Arginine methylation by PRMT5 is required for the interaction with Tudor domain-containing protein (TDRD1, TDRKH/TDRD2, RNF17/TDRD4, TDRD6, TDRD7 and TDRD9) and subsequent localization to the meiotic nuage, also named P granule (By similarity). Belongs to the argonaute family. Piwi subfamily. Contains 1 PAZ domain. Contains 1 Piwi domain. nucleic acid binding RNA binding single-stranded RNA binding mRNA binding nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus cytoplasm regulation of translation multicellular organism development spermatogenesis spermatid development negative regulation of transposition hydrolase activity protein kinase binding cell differentiation gene silencing by RNA chromatoid body piRNA binding piRNA metabolic process spermatogenesis, exchange of chromosomal proteins P granule metal ion binding meiotic cell cycle nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic dense body polysome binding  uc001uik.1 uc001uik.2 uc001uik.3 uc001uik.4 
ENST00000245304.5 RAP2A ENST00000245304.5 Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA. (from RefSeq NM_021033) B2RCJ1 ENST00000245304.1 ENST00000245304.2 ENST00000245304.3 ENST00000245304.4 NM_021033 P10114 Q5JSC1 Q5JSC2 RAP2A_HUMAN uc001vnd.1 uc001vnd.2 uc001vnd.3 uc001vnd.4 uc001vnd.5 Small GTP-binding protein which cycles between a GDP- bound inactive and a GTP-bound active form. In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK. Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development. More generally, it is part of several signaling cascades and may regulate cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading. Activated by the guanine nucleotide-exchange factors RAPGEF3 and RAPGEF4 in a cAMP-dependent manner. Nucleotide exchange is also specifically stimulated by RAPGEF5, RASGEF1A and RASGEF1B. Interacts (GTP-bound form) with RUNDC3A. Interacts with RGS14; the interaction is GTP-dependent (By similarity). Interacts with PLCE1. Interacts with ARHGAP29, SGSM1, SGSM2 and SGSM3. Interacts (GTP-bound form preferentially) with TNIK (via the CNH domain); the interaction is direct and recruits RAP2A to the E3 ubiquitin ligase NEDD4. Interacts with MINK1. Interacts (GTP-bound form preferentially) with MAP4K4. Interacts with cytoskeletal actin. Recycling endosome membrane; Lipid-anchor; Cytoplasmic side. Note=May also localize to the Golgi (PubMed:7962206) and the gelatinase-containing granules of neutrophils (PubMed:8391995). The effector domain mediates the interaction with RUNDC3A (By similarity). Ubiquitinated; undergoes 'Lys-63' monoubiquitination and diubiquitination by NEDD4. Multiple lysine residues are probably modified. Ubiquitination requires TNIK, prevents interaction with effectors and inactivates RAP2A. Palmitoylated. Palmitoylation is required for association with recycling endosome membranes and activation of TNIK (By similarity). Belongs to the small GTPase superfamily. Ras family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAP2AID274.html"; nucleotide binding magnesium ion binding positive regulation of protein phosphorylation GTPase activity protein binding GTP binding endosome cytosol plasma membrane signal transduction membrane GDP binding microvillus assembly negative regulation of cell migration midbody actin cytoskeleton reorganization positive regulation of protein autophosphorylation Rap protein signal transduction cellular protein localization cellular response to drug establishment of protein localization regulation of JNK cascade regulation of dendrite morphogenesis recycling endosome recycling endosome membrane protein localization to plasma membrane establishment of epithelial cell apical/basal polarity  uc001vnd.1 uc001vnd.2 uc001vnd.3 uc001vnd.4 uc001vnd.5 
ENST00000245312.5 SLC10A2 ENST00000245312.5 Homo sapiens solute carrier family 10 member 2 (SLC10A2), mRNA. (from RefSeq NM_000452) A1L4F4 ASBT ENST00000245312.1 ENST00000245312.2 ENST00000245312.3 ENST00000245312.4 ISBT NM_000452 NTCP2 NTCP2_HUMAN Q12908 Q13839 uc001vpy.1 uc001vpy.2 uc001vpy.3 uc001vpy.4 uc001vpy.5 This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U10417.1, BC130523.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267780 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245312.5/ ENSP00000245312.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism. Monomer and homodimer. Membrane; Multi-pass membrane protein. Defects in SLC10A2 are a cause of primary bile acid malabsorption (PBAM) [MIM:613291]. PBAM is an idiopathic intestinal disorder associated with congenital diarrhea, steatorrhea, interruption of the enterohepatic circulation of bile acids, and reduced plasma cholesterol levels. Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family. plasma membrane integral component of plasma membrane microvillus ion transport sodium ion transport bile acid:sodium symporter activity response to bacterium symporter activity bile acid and bile salt transport membrane integral component of membrane apical plasma membrane transmembrane transport  uc001vpy.1 uc001vpy.2 uc001vpy.3 uc001vpy.4 uc001vpy.5 
ENST00000245382.6 HROB ENST00000245382.6 Homo sapiens homologous recombination factor with OB-fold (HROB), transcript variant 3, mRNA. (from RefSeq NM_001321310) C17orf53 CQ053_HUMAN ENST00000245382.1 ENST00000245382.2 ENST00000245382.3 ENST00000245382.4 ENST00000245382.5 NM_001321310 Q8N3J3 Q9BWM9 Q9HAI1 uc002ifj.1 uc002ifj.2 uc002ifj.3 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N3J3-1; Sequence=Displayed; Name=2; IsoId=Q8N3J3-2; Sequence=VSP_025651, VSP_025652; Note=No experimental confirmation available; Name=3; IsoId=Q8N3J3-3; Sequence=VSP_025653, VSP_025654, VSP_025655; Note=No experimental confirmation available;  uc002ifj.1 uc002ifj.2 uc002ifj.3 
ENST00000245407.8 SLC22A5 ENST00000245407.8 Homo sapiens solute carrier family 22 member 5 (SLC22A5), transcript variant 2, mRNA. (from RefSeq NM_003060) A2Q0V1 B2R844 D3DQ87 ENST00000245407.1 ENST00000245407.2 ENST00000245407.3 ENST00000245407.4 ENST00000245407.5 ENST00000245407.6 ENST00000245407.7 NM_003060 O76082 OCTN2 Q6ZQZ8 Q96EH6 S22A5_HUMAN uc003kww.1 uc003kww.2 uc003kww.3 uc003kww.4 uc003kww.5 uc003kww.6 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3. Interacts with PDZK1 (By similarity). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O76082-1; Sequence=Displayed; Name=2; IsoId=O76082-2; Sequence=VSP_011120, VSP_011121; Note=No experimental confirmation available; Name=3; Synonyms=OCTN2VT; IsoId=O76082-3; Sequence=VSP_043904; Note=Retained in the ER, unable to perform carnitine uptake; Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP) [MIM:212140]. CDSP is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC22A5"; Name=The SLC22A5 database; URL="http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php"; nucleotide binding protein binding ATP binding plasma membrane ion transport sodium ion transport carnitine transmembrane transporter activity symporter activity quaternary ammonium group transmembrane transporter activity quaternary ammonium group transport carnitine transport drug transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity PDZ domain binding brush border membrane xenobiotic transport xenobiotic transporter activity quorum sensing involved in interaction with host transmembrane transport positive regulation of intestinal epithelial structure maintenance extracellular exosome sodium-dependent organic cation transport carnitine transmembrane transport  uc003kww.1 uc003kww.2 uc003kww.3 uc003kww.4 uc003kww.5 uc003kww.6 
ENST00000245414.9 IRF1 ENST00000245414.9 Homo sapiens interferon regulatory factor 1 (IRF1), transcript variant 1, mRNA. (from RefSeq NM_002198) ENST00000245414.1 ENST00000245414.2 ENST00000245414.3 ENST00000245414.4 ENST00000245414.5 ENST00000245414.6 ENST00000245414.7 ENST00000245414.8 NM_002198 Q6FHN8 Q6FHN8_HUMAN hCG_24115 uc003kxa.1 uc003kxa.2 uc003kxa.3 uc003kxa.4 The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the body's response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK314025.1, SRR3476690.44046.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245414.9/ ENSP00000245414.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated apoptotic process negative regulation of cell proliferation regulation of gene expression positive regulation of type I interferon production regulation of MyD88-dependent toll-like receptor signaling pathway CD8-positive, alpha-beta T cell differentiation sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of interleukin-12 biosynthetic process negative regulation of regulatory T cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of immune response defense response to virus interferon-gamma-mediated signaling pathway regulation of CD8-positive, alpha-beta T cell proliferation  uc003kxa.1 uc003kxa.2 uc003kxa.3 uc003kxa.4 
ENST00000245448.11 DMAC2L ENST00000245448.11 Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity). (from UniProt Q99766) A8K1U3 ATP5S ATP5S_HUMAN ATPW BC011549 D9N156 ENST00000245448.1 ENST00000245448.10 ENST00000245448.2 ENST00000245448.3 ENST00000245448.4 ENST00000245448.5 ENST00000245448.6 ENST00000245448.7 ENST00000245448.8 ENST00000245448.9 Q8WWX3 Q96F77 Q99766 uc001wxx.1 uc001wxx.2 uc001wxx.3 uc001wxx.4 Involved in regulation of mitochondrial membrane ATP synthase. Necessary for H(+) conduction of ATP synthase. Facilitates energy-driven catalysis of ATP synthesis by blocking a proton leak through an alternative proton exit pathway (By similarity). Homotetramer. Associates with ATP synthase (By similarity). Mitochondrion (By similarity). Mitochondrion inner membrane (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q99766-1; Sequence=Displayed; Name=2; IsoId=Q99766-2; Sequence=VSP_040059, VSP_040062; Name=3; IsoId=Q99766-3; Sequence=VSP_040060, VSP_040061; Belongs to the ATP synthase subunit s family. Contains 4 LRR (leucine-rich) repeats. It is uncertain whether Met-1 or Met-16 is the initiator. mitochondrion mitochondrial inner membrane ATP biosynthetic process ion transport hydrogen ion transmembrane transporter activity membrane cristae formation mitochondrial ATP synthesis coupled proton transport proton-transporting ATP synthase complex, coupling factor F(o) metal ion binding hydrogen ion transmembrane transport  uc001wxx.1 uc001wxx.2 uc001wxx.3 uc001wxx.4 
ENST00000245451.9 BMP4 ENST00000245451.9 Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 1, mRNA. (from RefSeq NM_001202) ENST00000245451.1 ENST00000245451.2 ENST00000245451.3 ENST00000245451.4 ENST00000245451.5 ENST00000245451.6 ENST00000245451.7 ENST00000245451.8 NM_001202 Q53XC5 Q53XC5_HUMAN hCG_20967 uc001xao.1 uc001xao.2 uc001xao.3 uc001xao.4 uc001xao.5 uc001xao.6 uc001xao.7 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]. Belongs to the TGF-beta family. negative regulation of transcription from RNA polymerase II promoter skeletal system development angiogenesis blood vessel development osteoblast differentiation metanephros development ureteric bud development branching involved in ureteric bud morphogenesis mesoderm formation organ induction kidney development neural tube closure positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation vasculature development endochondral ossification chondrocyte differentiation hematopoietic progenitor cell differentiation renal system process outflow tract septum morphogenesis membranous septum morphogenesis outflow tract morphogenesis aortic valve morphogenesis pulmonary valve morphogenesis endocardial cushion development extracellular region extracellular space germ cell development endoderm development mesodermal cell fate determination heart development growth factor activity heparin binding positive regulation of cell proliferation negative regulation of cell proliferation post-embryonic development tissue development anterior/posterior axis specification specification of animal organ position regulation of gene expression positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial to mesenchymal transition dorsal/ventral neural tube patterning telencephalon regionalization pituitary gland development erythrocyte differentiation lung development embryonic limb morphogenesis positive regulation of cell migration BMP signaling pathway positive regulation of BMP signaling pathway forebrain development negative regulation of chondrocyte differentiation embryonic hindlimb morphogenesis tendon cell differentiation deltoid tuberosity development odontogenesis of dentin-containing tooth regulation of odontogenesis of dentin-containing tooth embryonic digit morphogenesis camera-type eye development negative regulation of apoptotic process cell fate commitment regulation of cell differentiation positive regulation of cell differentiation positive regulation of endothelial cell differentiation positive regulation of neuron differentiation positive regulation of ossification positive regulation of transcription from RNA polymerase II promoter mesodermal cell differentiation camera-type eye morphogenesis embryonic morphogenesis anatomical structure formation involved in morphogenesis regulation of smooth muscle cell proliferation neuron fate commitment embryonic cranial skeleton morphogenesis embryonic skeletal system morphogenesis embryonic skeletal system development smooth muscle tissue development negative regulation of epithelial cell proliferation smooth muscle cell differentiation regulation of smooth muscle cell differentiation cardiac muscle cell differentiation inner ear receptor cell differentiation cloacal septation lens induction in camera-type eye embryonic skeletal joint morphogenesis bone development cranial suture morphogenesis SMAD protein signal transduction epithelium development trachea formation branching involved in prostate gland morphogenesis bud elongation involved in lung branching prostate gland morphogenesis mammary gland formation epithelial-mesenchymal cell signaling negative regulation of prostatic bud formation regulation of branching involved in prostate gland morphogenesis regulation of morphogenesis of a branching structure coronary vasculature development regulation of cartilage development positive regulation of branching involved in lung morphogenesis BMP signaling pathway involved in ureter morphogenesis BMP signaling pathway involved in renal system segmentation BMP signaling pathway involved in heart development pharyngeal arch artery morphogenesis positive regulation of ERK1 and ERK2 cascade cellular response to growth factor stimulus glomerular visceral epithelial cell development glomerular capillary formation mesenchymal cell proliferation involved in ureteric bud development mesenchymal cell differentiation involved in kidney development ureter epithelial cell differentiation ureter smooth muscle cell differentiation mesenchymal cell proliferation involved in ureter development metanephric collecting duct development negative regulation of branching involved in ureteric bud morphogenesis positive regulation of cell proliferation involved in outflow tract morphogenesis positive regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis mesenchymal cell differentiation involved in renal system development negative regulation of extrinsic apoptotic signaling pathway  uc001xao.1 uc001xao.2 uc001xao.3 uc001xao.4 uc001xao.5 uc001xao.6 uc001xao.7 
ENST00000245457.6 PTGER2 ENST00000245457.6 Homo sapiens prostaglandin E receptor 2 (PTGER2), mRNA. (from RefSeq NM_000956) D3DSC0 ENST00000245457.1 ENST00000245457.2 ENST00000245457.3 ENST00000245457.4 ENST00000245457.5 NM_000956 P43116 PE2R2_HUMAN Q52LG8 uc001wzr.1 uc001wzr.2 uc001wzr.3 uc001wzr.4 uc001wzr.5 This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.277466.1, U19487.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245457.6/ ENSP00000245457.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle. Cell membrane; Multi-pass membrane protein. Placenta and lung. Belongs to the G-protein coupled receptor 1 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ptger2/"; G-protein coupled receptor activity prostaglandin E receptor activity plasma membrane integral component of plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration membrane integral component of membrane response to lipopolysaccharide response to progesterone regulation of cell proliferation cellular response to prostaglandin E stimulus positive regulation of gastric mucosal blood circulation  uc001wzr.1 uc001wzr.2 uc001wzr.3 uc001wzr.4 uc001wzr.5 
ENST00000245458.11 RPS29 ENST00000245458.11 Homo sapiens ribosomal protein S29 (RPS29), transcript variant 1, mRNA. (from RefSeq NM_001032) A8MZ73 ENST00000245458.1 ENST00000245458.10 ENST00000245458.2 ENST00000245458.3 ENST00000245458.4 ENST00000245458.5 ENST00000245458.6 ENST00000245458.7 ENST00000245458.8 ENST00000245458.9 NM_001032 P30054 P62273 RS29_HUMAN uc001wwm.1 uc001wwm.2 uc001wwm.3 uc001wwm.4 uc001wwm.5 uc001wwm.6 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]. Binds 1 zinc ion per subunit (Potential). Q9NY93:DDX56; NbExp=1; IntAct=EBI-1054121, EBI-372376; O60739:EIF1B; NbExp=1; IntAct=EBI-1054121, EBI-1043343; Q14240:EIF4A2; NbExp=1; IntAct=EBI-1054121, EBI-73473; Q93063:EXT2; NbExp=1; IntAct=EBI-1054121, EBI-1047761; Q9Y6J8:STYXL1; NbExp=1; IntAct=EBI-1054121, EBI-1044511; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P62273-1; Sequence=Displayed; Name=2; IsoId=P62273-2; Sequence=VSP_042844; Belongs to the ribosomal protein S14P family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic translation structural constituent of ribosome nucleoplasm cytoplasm endoplasmic reticulum rough endoplasmic reticulum cytosol ribosome focal adhesion translation translational initiation SRP-dependent cotranslational protein targeting to membrane zinc ion binding small ribosomal subunit viral transcription cytosolic small ribosomal subunit polysomal ribosome metal ion binding extracellular exosome cytoplasmic side of rough endoplasmic reticulum membrane  uc001wwm.1 uc001wwm.2 uc001wwm.3 uc001wwm.4 uc001wwm.5 uc001wwm.6 
ENST00000245479.3 SOX9 ENST00000245479.3 Homo sapiens SRY-box transcription factor 9 (SOX9), mRNA. (from RefSeq NM_000346) ENST00000245479.1 ENST00000245479.2 NM_000346 P48436 Q53Y80 SOX9_HUMAN uc002jiw.1 uc002jiw.2 uc002jiw.3 uc002jiw.4 uc002jiw.5 The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Z46629.1, BC056420.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245479.3/ ENSP00000245479.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genes. Nucleus (Potential). Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male- to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Defects in SOX9 are the cause of 46,XX sex reversal type 2 (SRXX2) [MIM:278850]. SRXX2 is a condition in which male gonads develop in a genetic female (female to male sex reversal). Contains 1 HMG box DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SOX9"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development cartilage condensation ossification branching involved in ureteric bud morphogenesis cell fate specification epithelial to mesenchymal transition tissue homeostasis positive regulation of protein phosphorylation hair follicle development morphogenesis of an epithelium positive regulation of mesenchymal cell proliferation chondrocyte differentiation chondrocyte development negative regulation of immune system process heart valve development heart valve morphogenesis aortic valve morphogenesis heart valve formation endocardial cushion morphogenesis chondrocyte differentiation involved in endochondral bone morphogenesis chondrocyte hypertrophy DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex nucleosome assembly chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter cytoskeleton organization signal transduction epidermal growth factor receptor signaling pathway Notch signaling pathway spermatogenesis central nervous system development heart development beta-catenin binding positive regulation of cell proliferation negative regulation of cell proliferation male gonad development regulation of gene expression regulation of cell cycle process positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial cell migration neural crest cell development neural crest cell fate specification positive regulation of phosphatidylinositol 3-kinase signaling male germ-line sex determination cAMP-mediated signaling cell differentiation regulation of cell adhesion extracellular matrix organization male sex determination negative regulation of ossification negative regulation of bone mineralization prostate gland development negative regulation of epithelial cell differentiation positive regulation of epithelial cell differentiation mammary gland development notochord development otic vesicle formation endocrine pancreas development negative regulation of chondrocyte differentiation positive regulation of chondrocyte differentiation lacrimal gland development macromolecular complex protein kinase A catalytic subunit binding protein localization to nucleus somatic stem cell population maintenance enhancer binding intrahepatic bile duct development regulation of cell proliferation regulation of apoptotic process negative regulation of apoptotic process bHLH transcription factor binding protein kinase B signaling sequence-specific DNA binding transcription regulatory region DNA binding nuclear transcription factor complex cell fate commitment regulation of cell differentiation negative regulation of myoblast differentiation positive regulation of protein catabolic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of photoreceptor cell differentiation oligodendrocyte differentiation homeostasis of number of cells within a tissue positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation cartilage development Sertoli cell differentiation Sertoli cell development astrocyte fate commitment retina development in camera-type eye limb bud formation retinal rod cell differentiation endochondral bone morphogenesis epithelial tube branching involved in lung morphogenesis lung epithelial cell differentiation prostate gland morphogenesis epithelial cell proliferation involved in prostatic bud elongation bronchus cartilage development trachea cartilage development intestinal epithelial structure maintenance regulation of cell proliferation involved in tissue homeostasis positive regulation of cartilage development regulation of branching involved in lung morphogenesis morphogenesis of a branching epithelium lung smooth muscle development macromolecular complex assembly negative regulation of biomineral tissue development ERK1 and ERK2 cascade Harderian gland development cellular response to mechanical stimulus cellular response to retinoic acid cellular response to interleukin-1 cellular response to epidermal growth factor stimulus cellular response to heparin cellular response to transforming growth factor beta stimulus otic vesicle development cellular response to BMP stimulus renal vesicle induction metanephric tubule development ureter development ureter urothelium development ureter smooth muscle cell differentiation ureter morphogenesis metanephric nephron tubule formation negative regulation of canonical Wnt signaling pathway cochlea morphogenesis positive regulation of kidney development positive regulation of branching involved in ureteric bud morphogenesis anterior head development pre-mRNA intronic binding cell-cell adhesion positive regulation of extracellular matrix assembly negative regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of male gonad development positive regulation of cell proliferation involved in heart morphogenesis positive regulation of mesenchymal stem cell differentiation regulation of epithelial cell proliferation involved in lung morphogenesis negative regulation of mesenchymal cell apoptotic process  uc002jiw.1 uc002jiw.2 uc002jiw.3 uc002jiw.4 uc002jiw.5 
ENST00000245503.10 MYH2 ENST00000245503.10 Homo sapiens myosin heavy chain 2 (MYH2), transcript variant 1, mRNA. (from RefSeq NM_017534) A0AVL4 ENST00000245503.1 ENST00000245503.2 ENST00000245503.3 ENST00000245503.4 ENST00000245503.5 ENST00000245503.6 ENST00000245503.7 ENST00000245503.8 ENST00000245503.9 MYH2_HUMAN MYHSA2 NM_017534 Q14322 Q16229 Q86T56 Q9UKX2 uc002gmp.1 uc002gmp.2 uc002gmp.3 uc002gmp.4 uc002gmp.5 uc002gmp.6 Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]. Muscle contraction. Required for cytoskeleton organization (By similarity). Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with GCSAM. Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Defects in MYH2 are the cause of inclusion body myopathy type 3 (IBM3) [MIM:605637]. Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal. Contains 1 IQ domain. Contains 1 myosin head-like domain. Represents a conventional myosin. This protein should not be confused with the unconventional myosin-2 (MYO2). microfilament motor activity nucleotide binding motor activity actin binding protein binding calmodulin binding ATP binding cytoplasm cytosol muscle myosin complex muscle contraction myosin complex myofibril sarcomere muscle filament sliding myosin filament macromolecular complex Fc-gamma receptor signaling pathway involved in phagocytosis actin filament binding  uc002gmp.1 uc002gmp.2 uc002gmp.3 uc002gmp.4 uc002gmp.5 uc002gmp.6 
ENST00000245539.11 MRPS7 ENST00000245539.11 Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_015971) B2R9N5 ENST00000245539.1 ENST00000245539.10 ENST00000245539.2 ENST00000245539.3 ENST00000245539.4 ENST00000245539.5 ENST00000245539.6 ENST00000245539.7 ENST00000245539.8 ENST00000245539.9 NM_015971 Q53GD6 Q9Y2R9 RT07_HUMAN uc002jnm.1 uc002jnm.2 uc002jnm.3 uc002jnm.4 uc002jnm.5 uc002jnm.6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.166676.1, SRR5189667.197372.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000245539.11/ ENSP00000245539.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins (By similarity). Mitochondrion (By similarity). Belongs to the ribosomal protein S7P family. ribosomal small subunit assembly RNA binding mRNA binding structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome translation rRNA binding mitochondrial translation mitochondrial translational elongation mitochondrial translational termination  uc002jnm.1 uc002jnm.2 uc002jnm.3 uc002jnm.4 uc002jnm.5 uc002jnm.6 
ENST00000245543.6 ARMC7 ENST00000245543.6 Homo sapiens armadillo repeat containing 7 (ARMC7), transcript variant 1, mRNA. (from RefSeq NM_024585) ARMC7_HUMAN ENST00000245543.1 ENST00000245543.2 ENST00000245543.3 ENST00000245543.4 ENST00000245543.5 NM_024585 Q9H6L4 uc002jmw.1 uc002jmw.2 Contains 2 ARM repeats. protein binding  uc002jmw.1 uc002jmw.2 
ENST00000245544.9 NUP85 ENST00000245544.9 Homo sapiens nucleoporin 85 (NUP85), transcript variant 1, mRNA. (from RefSeq NM_024844) ENST00000245544.1 ENST00000245544.2 ENST00000245544.3 ENST00000245544.4 ENST00000245544.5 ENST00000245544.6 ENST00000245544.7 ENST00000245544.8 NM_024844 NUP75 NUP85_HUMAN PCNT1 Q8NDI4 Q9BW27 Q9H9U1 uc002jng.1 uc002jng.2 uc002jng.3 This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP98/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2- activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl- inositol 3-kinase-Rac-lammellipodium protrusion cascade. Component of the nuclear pore complex (NPC). Component of the NPC Nup107-160 subcomplex, consisting of at least NUP107, NUP98/Nup96, NUP160, NUP133, NUP85, NUP37, NUP43 and SEC13. Interacts with NUP160, NUP133 and SEC13. Interacts with NUP37, NUP107 and NUP43. Interacts with CCR2. Nucleus, nuclear pore complex. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Cytoplasm. Nucleus membrane. Note=During mitosis, localizes to the kinetochores and spindle poles. Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells. Belongs to the nucleoporin Nup85 family. Sequence=CAD38749.1; Type=Erroneous initiation; chromosome, centromeric region kinetochore condensed chromosome kinetochore protein binding nucleus nuclear envelope nuclear pore chromosome cytoplasm spindle cytosol cytoskeleton regulation of glycolytic process mRNA export from nucleus tRNA export from nucleus protein import into nucleus chemotaxis protein transport membrane viral process protein sumoylation structural constituent of nuclear pore viral transcription lamellipodium assembly nuclear pore outer ring nuclear membrane host cell positive regulation of transcription, DNA-templated macrophage chemotaxis mRNA transport regulation of gene silencing by miRNA nephron development intracellular transport of virus regulation of cellular response to heat  uc002jng.1 uc002jng.2 uc002jng.3 
ENST00000245551.9 MIF4GD ENST00000245551.9 Homo sapiens MIF4G domain containing (MIF4GD), transcript variant 2, mRNA. (from RefSeq NM_020679) A9UHW6 ENST00000245551.1 ENST00000245551.2 ENST00000245551.3 ENST00000245551.4 ENST00000245551.5 ENST00000245551.6 ENST00000245551.7 ENST00000245551.8 MI4GD_HUMAN NM_020679 Q8N4Q5 Q9HBL5 SLIP1 uc002jnp.1 uc002jnp.2 uc002jnp.3 uc002jnp.4 uc002jnp.5 This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3' end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]. Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation. Interacts with EIF4G1, EIF4G2 and SLBP; probably tethered by SLBP to the 3'-end of mRNAs ending with the histone stem-loop, it also interacts with EIF4G1 which is bound to their 5'-end. P56524:HDAC4; NbExp=4; IntAct=EBI-373498, EBI-308629; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=A9UHW6-1; Sequence=Displayed; Name=2; IsoId=A9UHW6-2; Sequence=VSP_033877; Depletion of MIF4GD results in cell death and reduced histone mRNA translation. Belongs to the MIF4GD family. Contains 1 MIF4G domain. Sequence=AAG09724.1; Type=Frameshift; Positions=Several; RNA binding protein binding nucleus nucleolus cytoplasm cytosol regulation of translation regulation of translational initiation protein C-terminus binding translation activator activity identical protein binding positive regulation of translation  uc002jnp.1 uc002jnp.2 uc002jnp.3 uc002jnp.4 uc002jnp.5 
ENST00000245552.7 NT5C ENST00000245552.7 Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA. (from RefSeq NM_014595) ENST00000245552.1 ENST00000245552.2 ENST00000245552.3 ENST00000245552.4 ENST00000245552.5 ENST00000245552.6 NM_014595 V9HWF3 uc002jmx.1 uc002jmx.2 uc002jmx.3 uc002jmx.4 uc002jmx.5 This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011].  uc002jmx.1 uc002jmx.2 uc002jmx.3 uc002jmx.4 uc002jmx.5 
ENST00000245564.8 MSTO1 ENST00000245564.8 Homo sapiens misato mitochondrial distribution and morphology regulator 1 (MSTO1), transcript variant 27, non-coding RNA. (from RefSeq NR_146908) ENST00000245564.1 ENST00000245564.2 ENST00000245564.3 ENST00000245564.4 ENST00000245564.5 ENST00000245564.6 ENST00000245564.7 LST005 MSTO1_HUMAN NR_146908 Q53GR8 Q5CZ69 Q5T717 Q68CT6 Q7LBZ8 Q7Z3M7 Q7Z558 Q8TE05 Q9BUK6 Q9NQX2 Q9NVU4 SLTP005 uc001fky.1 uc001fky.2 uc001fky.3 uc001fky.4 uc001fky.5 uc001fky.6 Involved in the regulation of mitochondrial distribution and morphology. Mitochondrion outer membrane. Event=Alternative splicing; Named isoforms=7; Name=1; IsoId=Q9BUK6-1; Sequence=Displayed; Name=2; IsoId=Q9BUK6-2; Sequence=VSP_028056; Name=3; IsoId=Q9BUK6-3; Sequence=VSP_028054; Note=No experimental confirmation available; Name=4; IsoId=Q9BUK6-4; Sequence=VSP_028051, VSP_028052; Note=No experimental confirmation available; Name=5; IsoId=Q9BUK6-5; Sequence=VSP_028050, VSP_028056; Name=6; IsoId=Q9BUK6-6; Sequence=VSP_028049; Name=7; IsoId=Q9BUK6-7; Sequence=VSP_028053, VSP_028055; Note=No experimental confirmation available; Present in all cell lines tested (at protein level). Widely expressed. Belongs to the misato family. Sequence=AAM12424.1; Type=Frameshift; Positions=419; mitochondrial genome maintenance mitotic sister chromatid segregation molecular_function cytoplasm mitochondrion mitochondrial outer membrane mitochondrion organization membrane mitochondrion distribution mitotic spindle assembly  uc001fky.1 uc001fky.2 uc001fky.3 uc001fky.4 uc001fky.5 uc001fky.6 
ENST00000245615.6 MBOAT7 ENST00000245615.6 Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA. (from RefSeq NM_024298) A9C4B6 B0V3I5 B4DQ87 BB1 ENST00000245615.1 ENST00000245615.2 ENST00000245615.3 ENST00000245615.4 ENST00000245615.5 LENG4 MBOA7_HUMAN NM_024298 OACT7 Q05DF0 Q7L5N2 Q96N66 Q99908 Q9BPV2 Q9BRE9 uc032icm.1 uc032icm.2 uc032icm.3 This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]. Acyltransferase which mediates the conversion of lysophosphatidylinositol (1-acylglycerophosphatidylinositol or LPI) into phosphatidylinositol (1,2-diacyl-sn-glycero-3- phosphoinositol or PI) (LPIAT activity). Prefers arachidonoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. Acyl-CoA + 1-acyl-sn-glycero-3- phosphatidylinositol = CoA + 1,2-diacyl-sn-glycero-3- phosphatidylinositol. Acyl-[acyl-carrier-protein] + 1-acyl-sn- glycerol 3-phosphate = [acyl-carrier-protein] + 1,2-diacyl-sn- glycerol 3-phosphate. Activity is inhibited by thimerosal. Lipid metabolism; phospholipid metabolism. Q86WV6:TMEM173; NbExp=2; IntAct=EBI-6116499, EBI-2800345; Q8VCW4:Unc93b1 (xeno); NbExp=2; IntAct=EBI-6116499, EBI-6116986; Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96N66-1; Sequence=Displayed; Name=2; IsoId=Q96N66-2; Sequence=VSP_030967; Name=3; IsoId=Q96N66-3; Sequence=VSP_030968; Overexpressed in metastatic breast and bladder carcinomas relative to normal breast epithelium and urothelium. Belongs to the membrane-bound acyltransferase family. Sequence=AAB37433.1; Type=Frameshift; Positions=63, 93, 144, 186; 1-acylglycerol-3-phosphate O-acyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process phospholipid metabolic process phospholipid biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups ventricular system development layer formation in cerebral cortex phosphatidylinositol acyl-chain remodeling ER-mitochondrion membrane contact site phosphatidylinositol metabolic process 2-acylglycerol-3-phosphate O-acyltransferase activity lysophospholipid acyltransferase activity  uc032icm.1 uc032icm.2 uc032icm.3 
ENST00000245618.5 EPS8L1 ENST00000245618.5 Homo sapiens EPS8 like 1 (EPS8L1), transcript variant 2, mRNA. (from RefSeq NM_017729) DRC3 ENST00000245618.1 ENST00000245618.2 ENST00000245618.3 ENST00000245618.4 EPS8R1 ES8L1_HUMAN NM_017729 PP10566 Q71RE2 Q8NC10 Q8TE68 Q96BB7 Q9BSQ2 Q9GZQ2 Q9NXH0 uc002qiu.1 uc002qiu.2 uc002qiu.3 uc002qiu.4 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin. Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=Q8TE68-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8TE68-2; Sequence=VSP_019083, VSP_019085; Name=3; Synonyms=C; IsoId=Q8TE68-3; Sequence=VSP_019084, VSP_019088, VSP_019089; Name=4; IsoId=Q8TE68-4; Sequence=VSP_019082, VSP_019086, VSP_019087, VSP_019088; Detected in placenta. Belongs to the EPS8 family. Contains 1 SH3 domain. Sequence=AAG03038.1; Type=Frameshift; Positions=596; Sequence=AAG03039.1; Type=Erroneous gene model prediction; actin binding protein binding cytoplasm cytosol plasma membrane Rho protein signal transduction ruffle membrane macromolecular complex regulation of Rho protein signal transduction T cell receptor binding cadherin binding extracellular exosome positive regulation of ruffle assembly Rho guanyl-nucleotide exchange factor activity Rac guanyl-nucleotide exchange factor activity  uc002qiu.1 uc002qiu.2 uc002qiu.3 uc002qiu.4 
ENST00000245620.13 LILRB3 ENST00000245620.13 Homo sapiens leukocyte immunoglobulin like receptor B3 (LILRB3), transcript variant 1, mRNA. (from RefSeq NM_001081450) C9J1P3 C9JIP1 ENST00000245620.1 ENST00000245620.10 ENST00000245620.11 ENST00000245620.12 ENST00000245620.2 ENST00000245620.3 ENST00000245620.4 ENST00000245620.5 ENST00000245620.6 ENST00000245620.7 ENST00000245620.8 ENST00000245620.9 ILT5 LIR3 LIRB3_HUMAN NM_001081450 O15471 O75022 Q86U49 uc032icw.1 uc032icw.2 This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF009642.1, AF009635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154529, SAMN01820687 [ECO:0000348] ##Evidence-Data-END## May act as receptor for class I MHC antigens. Becomes activated upon coligation of LILRB3 and immune receptors, such as FCGR2B and the B-cell receptor. Down-regulates antigen-induced B- cell activation by recruiting phosphatases to its immunoreceptor tyrosine-based inhibitor motifs (ITIM) (By similarity). Interacts with LYN, PTPN6/SHP-1 and PTPN11/SHP-2 (By similarity). Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75022-1; Sequence=Displayed; Name=2; IsoId=O75022-2; Sequence=VSP_008459; Note=No experimental confirmation available; Name=3; IsoId=O75022-3; Sequence=VSP_040126; Detected in monocytes and B-cells. Contains 3 copies of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2- containing phosphatases, including PTPN6/SHP-1, resulting in the dephosphorylation of the downstream protein kinases SYK and BTK (By similarity). Phosphorylated on tyrosine residues by LYN. Phosphorylation at Tyr-595 and Tyr-625 is important for interaction with PTPN6/SHP-1 and PTPN11/SHP-2 (By similarity). Belongs to the leukocyte receptor cluster (LRC) present on 19q13.4. Contains 4 Ig-like C2-type (immunoglobulin-like) domains. adaptive immune response immune system process transmembrane signaling receptor activity protein binding plasma membrane integral component of plasma membrane defense response cell surface receptor signaling pathway membrane integral component of membrane secretory granule membrane signaling receptor activity neutrophil degranulation negative regulation of osteoclast differentiation beta-amyloid binding  uc032icw.1 uc032icw.2 
ENST00000245621.6 LILRA6 ENST00000245621.6 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt B5ME96) B5ME96 B5ME96_HUMAN ENST00000245621.1 ENST00000245621.2 ENST00000245621.3 ENST00000245621.4 ENST00000245621.5 KC918865 uc061cpc.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc061cpc.1 
ENST00000245663.9 ZBTB46 ENST00000245663.9 Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), transcript variant 1, mRNA. (from RefSeq NM_001369741) BTBD4 E1P5K9 ENST00000245663.1 ENST00000245663.2 ENST00000245663.3 ENST00000245663.4 ENST00000245663.5 ENST00000245663.6 ENST00000245663.7 ENST00000245663.8 NM_001369741 Q5JWJ3 Q6GMV4 Q86UZ6 Q9BQK3 Q9H3Z8 Q9H3Z9 ZBT46_HUMAN ZNF340 uc061ypq.1 uc061ypq.2 Function as a transcriptional repressor for PRDM1 (By similarity). Nucleus (Potential). Sumoylated. Desumoylation by PPPDE2 reverses transcriptional repression activity (By similarity). Contains 1 BTB (POZ) domain. Contains 2 C2H2-type zinc fingers. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding nucleus regulation of transcription from RNA polymerase II promoter negative regulation of granulocyte differentiation negative regulation of macrophage differentiation negative regulation of monocyte differentiation metal ion binding negative regulation of dendritic cell differentiation positive regulation of dendritic cell differentiation  uc061ypq.1 uc061ypq.2 
ENST00000245680.7 SLC35F5 ENST00000245680.7 Homo sapiens solute carrier family 35 member F5 (SLC35F5), transcript variant 2, non-coding RNA. (from RefSeq NR_104470) ENST00000245680.1 ENST00000245680.2 ENST00000245680.3 ENST00000245680.4 ENST00000245680.5 ENST00000245680.6 NR_104470 NS5ATP3 Q8WV83 Q9H6P8 Q9H7D8 S35F5_HUMAN UNQ2545/PRO6097 uc002tku.1 uc002tku.2 uc002tku.3 Putative solute transporter (Potential). Membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WV83-1; Sequence=Displayed; Name=2; IsoId=Q8WV83-2; Sequence=VSP_029665, VSP_029666, VSP_029667, VSP_029668; Note=No experimental confirmation available; Expressed in colorectal cancer cells. Belongs to the SLC35F solute transporter family. Contains 1 EamA domain. Sequence=BAB14954.1; Type=Erroneous initiation; membrane integral component of membrane  uc002tku.1 uc002tku.2 uc002tku.3 
ENST00000245787.9 INSIG2 ENST00000245787.9 Homo sapiens insulin induced gene 2 (INSIG2), transcript variant 1, mRNA. (from RefSeq NM_016133) A8K5W8 ENST00000245787.1 ENST00000245787.2 ENST00000245787.3 ENST00000245787.4 ENST00000245787.5 ENST00000245787.6 ENST00000245787.7 ENST00000245787.8 INSI2_HUMAN NM_016133 Q8TBI8 Q9Y5U4 uc002tlk.1 uc002tlk.2 uc002tlk.3 uc002tlk.4 uc002tlk.5 The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]. Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR. Binds to the SCAP-SREBF2 complex only in the presence of sterols. Interacts with RNF139. Endoplasmic reticulum membrane; Multi-pass membrane protein. Does not require nuclear SREBPs for its expression. When nuclear SREBP activity is low, is the only form of INSIG present in the cell. Belongs to the INSIG family. Sequence=AAD43048.1; Type=Frameshift; Positions=221; protein binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process triglyceride metabolic process cholesterol biosynthetic process response to sterol depletion transcription factor binding steroid metabolic process cholesterol metabolic process negative regulation of steroid biosynthetic process membrane integral component of membrane sterol biosynthetic process response to insulin SREBP signaling pathway SREBP-SCAP-Insig complex response to lipid inner ear morphogenesis middle ear morphogenesis negative regulation of fatty acid biosynthetic process palate development cranial suture morphogenesis response to fatty acid  uc002tlk.1 uc002tlk.2 uc002tlk.3 uc002tlk.4 uc002tlk.5 
ENST00000245796.11 PSD4 ENST00000245796.11 Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. (from RefSeq NM_012455) A6NEG7 A8K1Y0 EFA6B ENST00000245796.1 ENST00000245796.10 ENST00000245796.2 ENST00000245796.3 ENST00000245796.4 ENST00000245796.5 ENST00000245796.6 ENST00000245796.7 ENST00000245796.8 ENST00000245796.9 NM_012455 O95621 PSD4_HUMAN Q4ZG34 Q6GPH8 Q8IYP4 Q8NDX1 TIC uc002tjc.1 uc002tjc.2 uc002tjc.3 uc002tjc.4 uc002tjc.5 Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5- bisphosphate and phosphatidylinositol 4,5-bisphosphate. Cell membrane. Note=Accumulates in dynamic actin-rich membrane ruffles and microvilli-like structures. Recruited to membranes via phosphatidylinositol phosphate-binding. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NDX1-1; Sequence=Displayed; Name=2; IsoId=Q8NDX1-2; Sequence=VSP_020772, VSP_020773; Widely expressed. Highest levels of expression are found in placenta, pancreas, spleen, thymus and peripheral blood. Contains 1 PH domain. Contains 1 SEC7 domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/psd4/"; guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity protein binding phospholipid binding plasma membrane lipid binding membrane regulation of ARF protein signal transduction ruffle membrane cell projection cleavage furrow  uc002tjc.1 uc002tjc.2 uc002tjc.3 uc002tjc.4 uc002tjc.5 
ENST00000245810.2 PSPN ENST00000245810.2 Homo sapiens persephin (PSPN), mRNA. (from RefSeq NM_004158) ENST00000245810.1 NM_004158 O60542 PSPN_HUMAN uc010xja.1 uc010xja.2 uc010xja.3 This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]. ##Evidence-Data-START## Transcript exon combination :: AF040962.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons. Homodimer; disulfide-linked (By similarity). Secreted. Belongs to the TGF-beta family. GDNF subfamily. MAPK cascade receptor binding extracellular region extracellular space nervous system development axon guidance central nervous system development growth factor activity  uc010xja.1 uc010xja.2 uc010xja.3 
ENST00000245811.6 ENSG00000232036 ENST00000245811.6 ENSG00000232036 (from geneSymbol) ENST00000245811.1 ENST00000245811.2 ENST00000245811.3 ENST00000245811.4 ENST00000245811.5 uc286fdt.1  uc286fdt.1 
ENST00000245812.8 ALKBH7 ENST00000245812.8 Homo sapiens alkB homolog 7 (ALKBH7), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_032306) ABH7 ALKB7_HUMAN B2R4U9 ENST00000245812.1 ENST00000245812.2 ENST00000245812.3 ENST00000245812.4 ENST00000245812.5 ENST00000245812.6 ENST00000245812.7 NM_032306 Q53FF3 Q9BT30 SPATA11 UNQ6002/PRO34564 uc002meo.1 uc002meo.2 uc002meo.3 uc002meo.4 Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron (By similarity). Binds 1 Fe(2+) ion per subunit (By similarity). Cytoplasm. Nucleus. Secreted (Potential). Note=Has a predicted N-terminal signal sequence, indicating it may be secreted. Detected in cytoplasm and nucleus when expressed as fusion protein with an N-terminal tag (PubMed:17979886). Widely expressed, with highest expression in pancreas, followed by spleen, prostate, ovary and placenta. Belongs to the alkB family. mitochondrion mitochondrial matrix fatty acid metabolic process cellular response to DNA damage stimulus regulation of lipid storage programmed cell death oxidoreductase activity metal ion binding dioxygenase activity oxidation-reduction process regulation of mitochondrial membrane permeability involved in programmed necrotic cell death  uc002meo.1 uc002meo.2 uc002meo.3 uc002meo.4 
ENST00000245816.11 CLPP ENST00000245816.11 Homo sapiens caseinolytic mitochondrial matrix peptidase proteolytic subunit (CLPP), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006012) B2R4W5 CLPP_HUMAN ENST00000245816.1 ENST00000245816.10 ENST00000245816.2 ENST00000245816.3 ENST00000245816.4 ENST00000245816.5 ENST00000245816.6 ENST00000245816.7 ENST00000245816.8 ENST00000245816.9 NM_006012 Q16740 uc002mem.1 uc002mem.2 uc002mem.3 uc002mem.4 The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.65598.1, DRR138522.66240.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000245816.11/ ENSP00000245816.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Clp cleaves peptides in various proteins in a process that requires ATP hydrolysis. Clp may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates. Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. Alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec; and Leu-Tyr-Leu-|-Tyr-Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs). Tetradecamer that assembles into a two heptameric rings with a central cavity. Mitochondrion matrix. Predominantly expressed in skeletal muscle. Intermediate levels in heart, liver and pancreas. Low in brain, placenta, lung and kidney. Belongs to the peptidase S14 family. ATP-dependent peptidase activity serine-type endopeptidase activity protein binding mitochondrion mitochondrial matrix proteolysis misfolded or incompletely synthesized protein catabolic process peptidase activity serine-type peptidase activity endopeptidase Clp complex hydrolase activity identical protein binding ATPase binding protein homooligomerization proteolysis involved in cellular protein catabolic process  uc002mem.1 uc002mem.2 uc002mem.3 uc002mem.4 
ENST00000245817.5 TNFSF9 ENST00000245817.5 Homo sapiens TNF superfamily member 9 (TNFSF9), mRNA. (from RefSeq NM_003811) ENST00000245817.1 ENST00000245817.2 ENST00000245817.3 ENST00000245817.4 NM_003811 P41273 Q2M3S2 TNFL9_HUMAN uc002mfh.1 uc002mfh.2 uc002mfh.3 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.187091.1, U03398.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245817.5/ ENSP00000245817.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cytokine that binds to TNFRSF9. Induces the proliferation of activated peripheral blood T-cells. May have a role in activation-induced cell death (AICD). May play a role in cognate interactions between T-cells and B-cells/macrophages. Homotrimer. Membrane; Single-pass type II membrane protein. Expressed in brain, placenta, lung, skeletal muscle and kidney. Belongs to the tumor necrosis factor family. receptor binding cytokine activity tumor necrosis factor receptor binding extracellular space plasma membrane immune response cell-cell signaling membrane integral component of membrane tumor necrosis factor receptor superfamily binding tumor necrosis factor-mediated signaling pathway positive regulation of activated T cell proliferation regulation of T cell proliferation regulation of apoptotic process positive regulation of cytotoxic T cell differentiation  uc002mfh.1 uc002mfh.2 uc002mfh.3 
ENST00000245838.13 THOC2 ENST00000245838.13 Homo sapiens THO complex 2 (THOC2), mRNA. (from RefSeq NM_001081550) A6NM50 CXorf3 ENST00000245838.1 ENST00000245838.10 ENST00000245838.11 ENST00000245838.12 ENST00000245838.2 ENST00000245838.3 ENST00000245838.4 ENST00000245838.5 ENST00000245838.6 ENST00000245838.7 ENST00000245838.8 ENST00000245838.9 NM_001081550 Q5JZ12 Q6IN92 Q8NI27 Q9H8I6 THOC2_HUMAN uc004etu.1 uc004etu.2 uc004etu.3 uc004etu.4 uc004etu.5 The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.247482.1, SRR1660803.88229.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245838.13/ ENSP00000245838.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Component of the THO subcomplex of the TREX complex. The TREX complex specifically associates with spliced mRNA and not with unspliced pre-mRNA. It is recruited to spliced mRNAs by a transcription-independent mechanism. Binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export. The recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. DDX39B functions as a bridge between ALYREF/THOC4 and the THO complex.The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production. The recruitment of the TREX complex to the intronless viral mRNA occurs via an interaction between KSHV ORF57 protein and ALYREF/THOC4. Component of the THO complex, which is composed of THOC1, THOC2, THOC5, THOC6 and THOC7. Together with THOC3, ALYREF/THOC4 and DDX39B, THO forms the transcription/export (TREX) complex. Interacts with THOC1. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NI27-1; Sequence=Displayed; Name=2; IsoId=Q8NI27-2; Sequence=VSP_008588; Note=No experimental confirmation available; Belongs to the THOC2 family. Sequence=AAM28436.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=BAB14630.1; Type=Erroneous initiation; Note=Translation N-terminally extended; transcription export complex THO complex THO complex part of transcription export complex RNA binding mRNA binding protein binding nucleus nucleoplasm mRNA processing RNA export from nucleus mRNA export from nucleus RNA splicing nuclear speck poly(A)+ mRNA export from nucleus mRNA 3'-end processing viral mRNA export from host cell nucleus neuron development generation of neurons mRNA transport nuclear chromosome, telomeric region  uc004etu.1 uc004etu.2 uc004etu.3 uc004etu.4 uc004etu.5 
ENST00000245857.9 RPL23 ENST00000245857.9 Belongs to the ribosomal protein L14P family. (from UniProt J3KTJ3) ENST00000245857.1 ENST00000245857.2 ENST00000245857.3 ENST00000245857.4 ENST00000245857.5 ENST00000245857.6 ENST00000245857.7 ENST00000245857.8 J3KTJ3 J3KTJ3_HUMAN X55954 hCG_2027400 uc060eoc.1 Belongs to the ribosomal protein L14P family. structural constituent of ribosome ribosome translation  uc060eoc.1 
ENST00000245865.10 STRADA ENST00000245865.10 STE20-related kinase adaptor alpha (from HGNC STRADA) BC043641 ENST00000245865.1 ENST00000245865.2 ENST00000245865.3 ENST00000245865.4 ENST00000245865.5 ENST00000245865.6 ENST00000245865.7 ENST00000245865.8 ENST00000245865.9 H3BLS8 Q86YC8 Q86YC8_HUMAN uc002jbr.1 uc002jbr.2 uc002jbr.3 uc002jbr.4 uc002jbr.5 protein kinase activity ATP binding protein phosphorylation  uc002jbr.1 uc002jbr.2 uc002jbr.3 uc002jbr.4 uc002jbr.5 
ENST00000245903.4 CD70 ENST00000245903.4 Homo sapiens CD70 molecule (CD70), transcript variant 1, mRNA. (from RefSeq NM_001252) CD27L CD27LG CD70_HUMAN ENST00000245903.1 ENST00000245903.2 ENST00000245903.3 NM_001252 P32970 Q96J57 TNFSF7 uc002mfi.1 uc002mfi.2 uc002mfi.3 uc002mfi.4 The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L08096.1, SRR1163657.324732.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245903.4/ ENSP00000245903.2 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## Cytokine that binds to CD27. Plays a role in T-cell activation. Induces the proliferation of costimulated T-cells and enhances the generation of cytolytic T-cells. Homotrimer (Probable). Membrane; Single-pass type II membrane protein. Belongs to the tumor necrosis factor family. protease binding T cell mediated immunity receptor binding cytokine activity tumor necrosis factor receptor binding protein binding extracellular space plasma membrane integral component of plasma membrane immune response signal transduction cell-cell signaling membrane integral component of membrane B cell mediated immunity tumor necrosis factor-mediated signaling pathway B cell proliferation positive regulation of T cell proliferation extracellular exosome extrinsic apoptotic signaling pathway  uc002mfi.1 uc002mfi.2 uc002mfi.3 uc002mfi.4 
ENST00000245907.11 C3 ENST00000245907.11 Homo sapiens complement C3 (C3), mRNA. (from RefSeq NM_000064) ENST00000245907.1 ENST00000245907.10 ENST00000245907.2 ENST00000245907.3 ENST00000245907.4 ENST00000245907.5 ENST00000245907.6 ENST00000245907.7 ENST00000245907.8 ENST00000245907.9 NM_000064 V9HWA9 uc002mfm.1 uc002mfm.2 uc002mfm.3 uc002mfm.4 uc002mfm.5 Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150299.1, SRR1660807.97673.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245907.11/ ENSP00000245907.4 Protein has antimicrobial activity :: PMID: 15550543 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc002mfm.1 uc002mfm.2 uc002mfm.3 uc002mfm.4 uc002mfm.5 
ENST00000245908.11 SH2D3A ENST00000245908.11 Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA. (from RefSeq NM_005490) A8K9R6 ENST00000245908.1 ENST00000245908.10 ENST00000245908.2 ENST00000245908.3 ENST00000245908.4 ENST00000245908.5 ENST00000245908.6 ENST00000245908.7 ENST00000245908.8 ENST00000245908.9 NM_005490 NSP1 Q9BRG2 Q9Y2X4 SH23A_HUMAN UNQ175/PRO201 uc002mft.1 uc002mft.2 uc002mft.3 uc002mft.4 uc002mft.5 May play a role in JNK activation. Interacts with BCAR1. Weakly expressed in placenta, fetal kidney, fetal lung, adult pancreas, adult kidney and adult lung. Phosphorylated on tyrosine. Contains 1 SH2 domain. SH3/SH2 adaptor activity guanyl-nucleotide exchange factor activity protein binding JNK cascade small GTPase mediated signal transduction positive regulation of signal transduction positive regulation of peptidyl-serine phosphorylation  uc002mft.1 uc002mft.2 uc002mft.3 uc002mft.4 uc002mft.5 
ENST00000245912.7 TNFSF14 ENST00000245912.7 Homo sapiens TNF superfamily member 14 (TNFSF14), transcript variant 2, mRNA. (from RefSeq NM_172014) A8K7M2 C9J5H4 ENST00000245912.1 ENST00000245912.2 ENST00000245912.3 ENST00000245912.4 ENST00000245912.5 ENST00000245912.6 HVEML LIGHT NM_172014 O43557 O75476 Q6FHA1 Q8WVF8 Q96LD2 TNF14_HUMAN UNQ391/PRO726 uc060ska.1 The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.48979.1, AY028261.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## Cytokine that binds to TNFRSF3/LTBR. Binding to the decoy receptor TNFRSF6B modulates its effects. Activates NFKB, stimulates the proliferation of T-cells, and inhibits growth of the adenocarcinoma HT-29. Acts as a receptor for Herpes simplex virus. Homotrimer. Q92956:TNFRSF14; NbExp=2; IntAct=EBI-524131, EBI-1056653; O95407:TNFRSF6B; NbExp=2; IntAct=EBI-524131, EBI-524171; Tumor necrosis factor ligand superfamily member 14, membrane form: Cell membrane; Single-pass type II membrane protein. Tumor necrosis factor ligand superfamily member 14, soluble form: Secreted. Isoform 2: Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43557-1; Sequence=Displayed; Name=2; Synonyms=LIGHT delta-TM; IsoId=O43557-2; Sequence=VSP_006452; Predominantly expressed in the spleen but also found in the brain. Weakly expressed in peripheral lymphoid tissues and in heart, placenta, liver, lung, appendix, and kidney, and no expression seen in fetal tissues, endocrine glands, or nonhematopoietic tumor lines. Up-regulated after T-cell activation. N-glycosylated. The soluble form of isoform 1 derives from the membrane form by proteolytic processing. Belongs to the tumor necrosis factor family. receptor binding cytokine activity tumor necrosis factor receptor binding protein binding extracellular region extracellular space cytoplasm plasma membrane apoptotic process immune response signal transduction positive regulation of T cell chemotaxis membrane integral component of membrane T cell costimulation tumor necrosis factor-mediated signaling pathway T cell proliferation T cell activation identical protein binding cysteine-type endopeptidase inhibitor activity involved in apoptotic process T cell homeostasis negative regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of myoblast differentiation cellular response to mechanical stimulus positive regulation of NIK/NF-kappaB signaling positive regulation of myoblast fusion  uc060ska.1 
ENST00000245923.9 RTN2 ENST00000245923.9 Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA. (from RefSeq NM_005619) ENST00000245923.1 ENST00000245923.2 ENST00000245923.3 ENST00000245923.4 ENST00000245923.5 ENST00000245923.6 ENST00000245923.7 ENST00000245923.8 NM_005619 NSPL1 O60509 O75298 Q7RTM6 Q7RTN1 Q7RTN2 RTN2_HUMAN uc002pcb.1 uc002pcb.2 uc002pcb.3 uc002pcb.4 uc002pcb.5 uc002pcb.6 This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]. Interacts with isoform 1 but not isoform 3 of SPAST. Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=RTN2-A; IsoId=O75298-1; Sequence=Displayed; Name=RTN2-B; IsoId=O75298-2; Sequence=VSP_005649; Name=RTN2-C; IsoId=O75298-3; Sequence=VSP_018870; Note=Produced by alternative initiation at Met-341 of isoform RTN2-A; Isoform RTN2-C is highly expressed in skeletal muscle. Defects in RTN2 are the cause of spastic paraplegia autosomal dominant type 12 (SPG12) [MIM:604805]. A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Contains 1 reticulon domain. protein binding endoplasmic reticulum endoplasmic reticulum membrane terminal cisterna membrane integral component of membrane integral component of endoplasmic reticulum membrane T-tubule regulation of glucose import intracellular protein transmembrane transport  uc002pcb.1 uc002pcb.2 uc002pcb.3 uc002pcb.4 uc002pcb.5 uc002pcb.6 
ENST00000245925.8 EML2 ENST00000245925.8 Homo sapiens EMAP like 2 (EML2), transcript variant 2, mRNA. (from RefSeq NM_012155) B7Z3I2 EMAL2_HUMAN EMAP2 EMAPL2 ENST00000245925.1 ENST00000245925.2 ENST00000245925.3 ENST00000245925.4 ENST00000245925.5 ENST00000245925.6 ENST00000245925.7 NM_012155 O95834 Q59EN8 Q8N5A2 Q9UG50 uc002pcn.1 uc002pcn.2 uc002pcn.3 uc002pcn.4 uc002pcn.5 May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic (By similarity). Cytoplasm, cytoskeleton (Potential). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95834-1; Sequence=Displayed; Name=2; IsoId=O95834-2; Sequence=VSP_042541; Note=No experimental confirmation available; Ubiquitous. Belongs to the WD repeat EMAP family. Contains 11 WD repeats. microtubule cytoskeleton organization receptor binding protein binding cytoplasm spindle cytoskeleton microtubule microtubule associated complex visual perception sensory perception of sound microtubule binding protein C-terminus binding regulation of microtubule nucleation tubulin binding negative regulation of microtubule polymerization mitotic spindle  uc002pcn.1 uc002pcn.2 uc002pcn.3 uc002pcn.4 uc002pcn.5 
ENST00000245932.11 VASP ENST00000245932.11 Homo sapiens vasodilator stimulated phosphoprotein (VASP), mRNA. (from RefSeq NM_003370) B2RBT9 ENST00000245932.1 ENST00000245932.10 ENST00000245932.2 ENST00000245932.3 ENST00000245932.4 ENST00000245932.5 ENST00000245932.6 ENST00000245932.7 ENST00000245932.8 ENST00000245932.9 NM_003370 P50552 Q6PIZ1 Q93035 VASP_HUMAN uc002pcg.1 uc002pcg.2 uc002pcg.3 uc002pcg.4 uc002pcg.5 Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC038224.1, SRR3476690.753827.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245932.11/ ENSP00000245932.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance, lamellipodial and filopodial dynamics, platelet activation and cell migration. VASP promotes actin filament elongation. It protects the barbed end of growing actin filaments against capping and increases the rate of actin polymerization in the presence of capping protein. VASP stimulates actin filament elongation by promoting the transfer of profilin- bound actin monomers onto the barbed end of growing actin filaments. Plays a role in actin-based mobility of Listeria monocytogenes in host cells. Regulates actin dynamics in platelets and plays an important role in regulating platelet aggregation. Homotetramer. Interacts with PFN1, PFN2, LPP, ACTN1 and ACTG1. Interacts, via the EVH1 domain, with the Pro-rich regions of ZYX. This interaction is important for targeting to focal adhesions and the formation of actin-rich structures at the apical surface of cells. Interacts, via the EVH1 domain, with the Pro- rich domain of Listeria monocytogenes actA. Interacts with APBB1IP. Interacts, via the Pro-rich domain, with the C-terminal SH3 domain of DNMBP (By similarity). P22736:NR4A1; NbExp=2; IntAct=EBI-748201, EBI-721550; Q15418:RPS6KA1; NbExp=4; IntAct=EBI-748201, EBI-963034; P12003:VCL (xeno); NbExp=2; IntAct=EBI-748201, EBI-1039563; Cytoplasm. Cytoplasm, cytoskeleton. Cell junction, focal adhesion. Cell projection, lamellipodium membrane. Cell projection, filopodium membrane. Note=Targeted to stress fibers and focal adhesions through interaction with a number of proteins including MRL family members. Localizes to the plasma membrane in protruding lamellipodia and filopodial tips. Stimulation by thrombin or PMA, also translocates VASP to focal adhesions. Localized along the sides of actin filaments throughout the peripheral cytoplasm under basal conditions. Highly expressed in platelets. The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization. The WH1 domain mediates interaction with XIRP1. Major substrate for cAMP-dependent (PKA) and cGMP-dependent protein kinase (PKG) in platelets. The preferred site for PKA is Ser-157, the preferred site for PKG/PRKG1, Ser-239. In ADP- activated platelets, phosphorylation by PKA or PKG on Ser-157 leads to fibrinogen receptor inhibition. Phosphorylation on Thr- 278 requires prior phosphorylation on Ser-157 and Ser-239. In response to phorbol ester (PMA) stimulation, phosphorylated by PKC/PRKCA. In response to thrombin, phosphorylated by both PKC and ROCK1. Phosphorylation at Thr-278 by AMPK does not require prior phosphorylation at Ser-157 or Ser-239. Phosphorylation modulates F-actin binding, actin filament elongation and platelet activation. Phosphorylation at Ser-322 by AMPK also alters actin filament binding. Carbon monoxide (CO) promotes phosphorylation at Ser-157, while nitric oxide (NO) promotes phosphorylation at Ser- 157, but also at Ser-239. Response to NO and CO is blunted in platelets from diabetic patients, and VASP is not phosphorylated efficiently at Ser-157 and Ser-239. VASP phosphorylation is used to monitor the effect of so-called antiplatelet drugs that reduce platelet reactivity and are used to prevent stent thrombosis, strokes and heart attacks in patients at risk for these problems. Belongs to the Ena/VASP family. Contains 1 WH1 domain. neural tube closure actin binding protein binding profilin binding cytoplasm cytosol cytoskeleton plasma membrane bicellular tight junction focal adhesion axon guidance actin polymerization or depolymerization actin cytoskeleton membrane SH3 domain binding lamellipodium actin cytoskeleton organization cell junction filopodium positive regulation of actin filament polymerization lamellipodium membrane filopodium membrane cell junction assembly cell projection cadherin binding protein homotetramerization extracellular exosome  uc002pcg.1 uc002pcg.2 uc002pcg.3 uc002pcg.4 uc002pcg.5 
ENST00000245934.12 SYMPK ENST00000245934.12 Homo sapiens symplekin (SYMPK), mRNA. (from RefSeq NM_004819) ENST00000245934.1 ENST00000245934.10 ENST00000245934.11 ENST00000245934.2 ENST00000245934.3 ENST00000245934.4 ENST00000245934.5 ENST00000245934.6 ENST00000245934.7 ENST00000245934.8 ENST00000245934.9 NM_004819 O00521 O00689 O00733 Q59GT5 Q8N2U5 Q92797 SPK SYMPK_HUMAN uc002pdn.1 uc002pdn.2 uc002pdn.3 uc002pdn.4 uc002pdn.5 This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK300252.1, Y10931.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000245934.12/ ENSP00000245934.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Heat-labile component of a multimolecular complex that function in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house-keeping rule. May be required for pre-mRNA polyadenylation. Found in a heat-sensitive complex at least composed of several cleavage and polyadenylation specific and cleavage stimulation factors. Interacts with CPSF2, CPSF3 and CSTF2. Interacts with HSF1 in heat-stressed cells. Cytoplasm, cytoskeleton. Cell junction, tight junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction. Nucleus, nucleoplasm. Note=Cytoplasmic face of adhesion plaques (major) and nucleoplasm (minor) (in cells with TJ). Nucleoplasm (in cells without TJ). Nuclear bodies of heat-stressed cells. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist; Name=1; IsoId=Q92797-1; Sequence=Displayed; Name=2; IsoId=Q92797-2; Sequence=VSP_014842, VSP_014843; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available; In testis, expressed in polar epithelia and Sertoli cells but not in vascular endothelia. The protein is detected in stomach, duodenum, pancreas, liver, fetal brain, carcinomas, lens-forming cells, fibroblasts, lymphocytes, lymphoma cells, erythroleukemia cells but not in endothelium of vessels, epidermis, intercalated disks, Purkinje fiber cells of the heart and lymph node. Could be used as a differentiation marker in the differential diagnosis of tumors. Sequence=AAC50667.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH30214.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAD92261.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA71861.1; Type=Frameshift; Positions=67; mRNA splicing, via spliceosome protein binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane bicellular tight junction termination of RNA polymerase II transcription mRNA polyadenylation mRNA processing mRNA export from nucleus cell adhesion membrane cell junction mRNA 3'-end processing negative regulation of protein binding positive regulation of protein dephosphorylation nuclear stress granule  uc002pdn.1 uc002pdn.2 uc002pdn.3 uc002pdn.4 uc002pdn.5 
ENST00000245957.10 CFAP61 ENST00000245957.10 Homo sapiens cilia and flagella associated protein 61 (CFAP61), transcript variant 1, mRNA. (from RefSeq NM_015585) A6NHA1 C20orf26 CT026_HUMAN ENST00000245957.1 ENST00000245957.2 ENST00000245957.3 ENST00000245957.4 ENST00000245957.5 ENST00000245957.6 ENST00000245957.7 ENST00000245957.8 ENST00000245957.9 NM_015585 Q5JXV4 Q5TE18 Q8N5R9 Q8NHU2 Q96M59 Q9BQL2 Q9H127 Q9H128 Q9NQH4 Q9UFV8 Q9Y4V7 uc002wru.1 uc002wru.2 uc002wru.3 uc002wru.4 uc002wru.5 Event=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q8NHU2-1; Sequence=Displayed; Name=3; IsoId=Q8NHU2-3; Sequence=VSP_003799, VSP_003800; Name=4; IsoId=Q8NHU2-4; Sequence=VSP_003798; Name=5; IsoId=Q8NHU2-5; Sequence=VSP_003802, VSP_003803, VSP_003804; Note=Created from a fragment entry and may await further characterization; Name=6; IsoId=Q8NHU2-6; Sequence=VSP_003802, VSP_013682, VSP_013683; Note=Ref.1 (BAB71452) sequence is in conflict in position: 123:L->P; Sequence=CAI42114.1; Type=Erroneous gene model prediction; cilium movement cytoplasm cytoskeleton axoneme motile cilium cell projection cilium organization radial spoke stalk  uc002wru.1 uc002wru.2 uc002wru.3 uc002wru.4 uc002wru.5 
ENST00000245960.10 CDC25B ENST00000245960.10 Homo sapiens cell division cycle 25B (CDC25B), transcript variant 1, mRNA. (from RefSeq NM_021873) CDC25HU2 D3DVY1 D3DVY2 D3DVY3 D3DVY4 ENST00000245960.1 ENST00000245960.2 ENST00000245960.3 ENST00000245960.4 ENST00000245960.5 ENST00000245960.6 ENST00000245960.7 ENST00000245960.8 ENST00000245960.9 MPIP2_HUMAN NM_021873 O43551 P30305 Q13971 Q5JX77 Q6RSS1 Q9BRA6 uc002wjn.1 uc002wjn.2 uc002wjn.3 uc002wjn.4 uc002wjn.5 uc002wjn.6 CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]. Tyrosine protein phosphatase which functions as a dosage-dependent inducer of mitotic progression. Required for G2/M phases of the cell cycle progression and abscission during cytokinesis in a ECT2-dependent manner. Directly dephosphorylates CDK1 and stimulates its kinase activity. The three isoforms seem to have a different level of activity. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. Stimulated by B-type cyclins. Interacts with MAPK14 and 14-3-3 proteins. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Event=Alternative splicing; Named isoforms=4; Name=3; Synonyms=CDC25B3; IsoId=P30305-1; Sequence=Displayed; Name=1; Synonyms=CDC25B1; IsoId=P30305-2; Sequence=VSP_000861; Name=2; Synonyms=CDC25B2; IsoId=P30305-3; Sequence=VSP_000862; Name=4; IsoId=P30305-4; Sequence=VSP_000861, VSP_012587; Note=No experimental confirmation available; Phosphorylated by BRSK1 in vitro. Phosphorylated by CHEK1, which inhibits the activity of this protein. Phosphorylation at Ser-353 by AURKA might locally participate in the control of the onset of mitosis. Phosphorylation by MELK at Ser-169 promotes localization to the centrosome and the spindle poles during mitosis. Phosphorylation at Ser-323 and Ser-375 by MAPK14 is required for binding to 14-3-3 proteins. Belongs to the MPI phosphatase family. Contains 1 rhodanese domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc25b/"; G2/M transition of mitotic cell cycle mitotic cell cycle spindle pole oocyte maturation phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm centrosome microtubule organizing center cytosol cytoskeleton protein phosphorylation protein dephosphorylation cell cycle female meiosis I positive regulation of cell proliferation positive regulation of G2/M transition of mitotic cell cycle hydrolase activity protein kinase binding positive regulation of cytokinesis peptidyl-tyrosine dephosphorylation positive regulation of protein kinase activity positive regulation of mitotic cell cycle cell division positive regulation of cell cycle G2/M phase transition  uc002wjn.1 uc002wjn.2 uc002wjn.3 uc002wjn.4 uc002wjn.5 uc002wjn.6 
ENST00000245983.6 GNRH2 ENST00000245983.6 Homo sapiens gonadotropin releasing hormone 2 (GNRH2), transcript variant 1, mRNA. (from RefSeq NM_001501) ENST00000245983.1 ENST00000245983.2 ENST00000245983.3 ENST00000245983.4 ENST00000245983.5 GON2_HUMAN NM_001501 O43555 Q14C68 Q14C69 Q9BYN9 Q9BYP0 uc002whr.1 uc002whr.2 This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]. Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones. Secreted. Event=Alternative splicing; Named isoforms=3; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=O43555-1; Sequence=Displayed; Name=2; IsoId=O43555-2; Sequence=VSP_001825; Name=3; IsoId=O43555-3; Sequence=VSP_001826; Midbrain; expressed at significantly higher levels outside the brain (up to 30-fold), particularly in the kidney, bone marrow and prostate. Belongs to the GnRH family. reproduction hormone activity gonadotropin hormone-releasing hormone activity extracellular region extracellular space signal transduction G-protein coupled receptor signaling pathway multicellular organism development gonadotropin-releasing hormone receptor binding  uc002whr.1 uc002whr.2 
ENST00000246006.5 CD93 ENST00000246006.5 Homo sapiens CD93 molecule (CD93), mRNA. (from RefSeq NM_012072) C1QR1 C1QR1_HUMAN ENST00000246006.1 ENST00000246006.2 ENST00000246006.3 ENST00000246006.4 MXRA4 NM_012072 O00274 Q9NPY3 uc002wsv.1 uc002wsv.2 uc002wsv.3 uc002wsv.4 uc002wsv.5 The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.198432.1, AB209895.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246006.5/ ENSP00000246006.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion. Interacts with HCV core protein. Membrane; Single-pass type I membrane protein. Highly expressed in endothelial cells, platelets, cells of myeloid origin, such as monocytes and neutrophils. Not expressed in cells of lymphoid origin. N- and O-glycosylated. Contains 1 C-type lectin domain. Contains 5 EGF-like domains. Has been sometimes referred to as a collectin receptor. PubMed:11994479 reported that C1q is not a ligand for C1QR1. complement component C1q binding calcium ion binding protein binding plasma membrane phagocytosis cell adhesion cell surface membrane integral component of membrane viral process carbohydrate binding secretory granule membrane cytoplasmic vesicle specific granule membrane signaling receptor activity macrophage activation neutrophil degranulation transforming growth factor beta binding tertiary granule membrane cell-cell adhesion ficolin-1-rich granule membrane  uc002wsv.1 uc002wsv.2 uc002wsv.3 uc002wsv.4 uc002wsv.5 
ENST00000246012.2 CST8 ENST00000246012.2 Homo sapiens cystatin 8 (CST8), transcript variant 1, mRNA. (from RefSeq NM_005492) CRES CST8_HUMAN ENST00000246012.1 NM_005492 O60676 Q2M2X6 uc002wth.1 uc002wth.2 uc002wth.3 uc002wth.4 The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. Performs a specialized role during sperm development and maturation. Secreted. Proximal caput region of the epididymis. Lower expression in the testis. Within the testis it is localized to the elongating spermatids, whereas within the epididymis it is exclusively synthesized by the proximal caput epithelium. Belongs to the cystatin family. cysteine-type endopeptidase inhibitor activity extracellular region cytoplasm cell surface negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity  uc002wth.1 uc002wth.2 uc002wth.3 uc002wth.4 
ENST00000246015.8 PSMF1 ENST00000246015.8 Homo sapiens proteasome inhibitor subunit 1 (PSMF1), transcript variant 6, mRNA. (from RefSeq NM_001323410) ENST00000246015.1 ENST00000246015.2 ENST00000246015.3 ENST00000246015.4 ENST00000246015.5 ENST00000246015.6 ENST00000246015.7 NM_001323410 Q5QPM7 Q5QPM7_HUMAN RP4-545L17.1-003 uc061uxd.1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.128928.1, SRR1803615.258009.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## cytosol  uc061uxd.1 
ENST00000246020.3 CSTL1 ENST00000246020.3 Secreted (Potential). (from UniProt Q9H114) AY707749 CST1L_HUMAN ENST00000246020.1 ENST00000246020.2 Q17RA8 Q64FF7 Q9H114 uc061vvp.1 uc061vvp.2 Secreted (Potential). Belongs to the cystatin family. cysteine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity  uc061vvp.1 uc061vvp.2 
ENST00000246024.7 TMX4 ENST00000246024.7 Homo sapiens thioredoxin related transmembrane protein 4 (TMX4), mRNA. (from RefSeq NM_021156) ENST00000246024.1 ENST00000246024.2 ENST00000246024.3 ENST00000246024.4 ENST00000246024.5 ENST00000246024.6 KIAA1162 NM_021156 PSEC0095 Q8N4P7 Q8NCC1 Q9H1E5 Q9UJA1 Q9ULQ8 TMX4_HUMAN TXNDC13 UNQ475/PRO938 uc002wmx.1 uc002wmx.2 uc002wmx.3 This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.203715.1, SRR1803617.59751.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246024.7/ ENSP00000246024.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Membrane; Single-pass type I membrane protein (Potential). Contains 1 thioredoxin domain. Sequence=CAB56344.1; Type=Erroneous initiation; nuclear inner membrane membrane integral component of membrane cell redox homeostasis oxidation-reduction process  uc002wmx.1 uc002wmx.2 uc002wmx.3 
ENST00000246041.6 AP5S1 ENST00000246041.6 As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair. (from UniProt Q9NUS5) AK002030 AP5S1_HUMAN B3KSD0 C20orf29 D3DVY7 ENST00000246041.1 ENST00000246041.2 ENST00000246041.3 ENST00000246041.4 ENST00000246041.5 Q9NUS5 uc021wab.1 As part of AP-5, a probable fifth adapter protein complex it may be involved in endosomal transport. According to PubMed:20613862, it is required for efficient homologous recombination DNA double-strand break repair. Probably part of the adapter protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11. Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side (Probable). Lysosome membrane; Peripheral membrane protein; Cytoplasmic side (Probable). double-strand break repair via homologous recombination protein binding nucleoplasm cytoplasm lysosome lysosomal membrane endosome late endosome cytosol DNA repair cellular response to DNA damage stimulus protein transport membrane endosomal transport AP-type membrane coat adaptor complex late endosome membrane  uc021wab.1 
ENST00000246043.8 RRBP1 ENST00000246043.8 Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane (By similarity). (from UniProt Q9P2E9) A2A2S6 A6NCN6 AB037819 ENST00000246043.1 ENST00000246043.2 ENST00000246043.3 ENST00000246043.4 ENST00000246043.5 ENST00000246043.6 ENST00000246043.7 KIAA1398 O75300 O75301 Q5W165 Q96SB2 Q9BWP1 Q9H476 Q9P2E9 RRBP1_HUMAN uc002wpu.1 uc002wpu.2 uc002wpu.3 uc002wpu.4 Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane (By similarity). Endoplasmic reticulum membrane; Single-pass type III membrane protein (By similarity). Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist. Additional isoforms are probable deriving from alternative splicing in the repeat region; Name=3; IsoId=Q9P2E9-1; Sequence=Displayed; Name=1; Synonyms=p180; IsoId=Q9P2E9-2; Sequence=VSP_003950; Name=2; Synonyms=ES130; IsoId=Q9P2E9-3; Sequence=VSP_003949, VSP_003950; Sequence=BAA92636.2; Type=Erroneous initiation; osteoblast differentiation RNA binding endoplasmic reticulum endoplasmic reticulum membrane ribosome translation protein transport membrane integral component of membrane integral component of endoplasmic reticulum membrane signaling receptor activity  uc002wpu.1 uc002wpu.2 uc002wpu.3 uc002wpu.4 
ENST00000246069.12 DSTN ENST00000246069.12 Homo sapiens destrin, actin depolymerizing factor (DSTN), transcript variant 1, mRNA. (from RefSeq NM_006870) ENST00000246069.1 ENST00000246069.10 ENST00000246069.11 ENST00000246069.2 ENST00000246069.3 ENST00000246069.4 ENST00000246069.5 ENST00000246069.6 ENST00000246069.7 ENST00000246069.8 ENST00000246069.9 NM_006870 V9HWA6 uc002wpr.1 uc002wpr.2 uc002wpr.3 uc002wpr.4 uc002wpr.5 The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].  uc002wpr.1 uc002wpr.2 uc002wpr.3 uc002wpr.4 uc002wpr.5 
ENST00000246070.3 LAMP5 ENST00000246070.3 Homo sapiens lysosomal associated membrane protein family member 5 (LAMP5), transcript variant 1, mRNA. (from RefSeq NM_012261) B4DHZ7 B7Z9Z9 C20orf103 ENST00000246070.1 ENST00000246070.2 LAMP5_HUMAN NM_012261 Q9UJQ1 uc002wni.1 uc002wni.2 uc002wni.3 uc002wni.4 Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Cytoplasmic vesicle (By similarity). Cell projection, dendrite (By similarity). Cell projection, growth cone membrane; Single-pass type I membrane protein (By similarity). Early endosome membrane; Single-pass type I membrane protein (By similarity). Recycling endosome (By similarity). Note=Localized mostly in cytoplasmic vesicles of neuronal cell body. Recycles from the vesicles of the endocytic recycling compartment (ERC) to the plasma membrane (By similarity). Colocalizes with UNC93B1 in large endosomal intracellular vesicles. Accumulates in the endoplasmic reticulum- Golgi intermediate compartment (ERGIC) before its disappearance upon activation by CpG dinucleotides. Associates with cortical membranes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UJQ1-1; Sequence=Displayed; Name=2; IsoId=Q9UJQ1-2; Sequence=VSP_037186; Expressed in plasmocytoid dendritic cells. Expressed in suprabasal skin keratinocytes and squamous cells (at protein level). Expressed in the brain and weakly in spleen and skin. Expressed in plasmocytoid dendritic cells. Up-regulated upon CpG dinucleotides activation. Down- regulated upon activation by Toll-like receptor (TLR) ligands. Glycosylated (By similarity). Appears to be a novel specific biomarker for blastic plasmocytoid dendritic cells neoplasia (PubMed:21642595). Belongs to the LAMP family. lysosome lysosomal membrane endosome late endosome plasma membrane endosome membrane membrane integral component of membrane cell junction dendrite cytoplasmic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle early endosome membrane late endosome membrane growth cone membrane dendrite membrane endoplasmic reticulum-Golgi intermediate compartment membrane cell projection synapse recycling endosome recycling endosome membrane establishment of protein localization to organelle  uc002wni.1 uc002wni.2 uc002wni.3 uc002wni.4 
ENST00000246071.8 SNRPB2 ENST00000246071.8 Homo sapiens small nuclear ribonucleoprotein polypeptide B2 (SNRPB2), transcript variant 2, mRNA. (from RefSeq NM_198220) B2R7J3 D3DW21 ENST00000246071.1 ENST00000246071.2 ENST00000246071.3 ENST00000246071.4 ENST00000246071.5 ENST00000246071.6 ENST00000246071.7 NM_198220 P08579 Q9UJD4 RU2B_HUMAN uc002wph.1 uc002wph.2 uc002wph.3 uc002wph.4 The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. Involved in pre-mRNA splicing. This protein is associated with snRNP U2. It binds stem loop IV of U2 snRNA only in presence of the U2A' protein. Identified in the spliceosome C complex. Present in a spliceosome complex assembled in vitro, and composed of SNRPB2, HPRP8BP and CRNKL1. Nucleus. Patients with systemic lupus erythematosus produce antibodies which interact with snRNP proteins. Belongs to the RRM U1 A/B'' family. Contains 2 RRM (RNA recognition motif) domains. mRNA splicing, via spliceosome fibrillar center nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex U1 snRNP U2 snRNP mRNA processing RNA splicing nuclear speck small nuclear ribonucleoprotein complex U1 snRNA binding snRNP binding U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome  uc002wph.1 uc002wph.2 uc002wph.3 uc002wph.4 
ENST00000246080.4 TCF15 ENST00000246080.4 Homo sapiens transcription factor 15 (TCF15), mRNA. (from RefSeq NM_004609) BHLHA40 BHLHEC2 ENST00000246080.1 ENST00000246080.2 ENST00000246080.3 NM_004609 Q12870 Q9NQQ1 TCF15_HUMAN uc002wdz.1 uc002wdz.2 uc002wdz.3 uc002wdz.4 uc002wdz.5 The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC067836.1, U08336.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142363 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function as an early transcriptional regulator, involved in the patterning of the mesoderm and in lineage determination of cell types derived from the mesoderm. Efficient DNA binding requires dimerization with another bHLH protein (By similarity). Nucleus (By similarity). Contains 1 bHLH (basic helix-loop-helix) domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding somitogenesis respiratory system process DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription from RNA polymerase II promoter multicellular organism development mesoderm development muscle organ development anterior/posterior pattern specification regulation of gene expression post-anal tail morphogenesis eating behavior ear development skin development establishment of epithelial cell apical/basal polarity positive regulation of transcription from RNA polymerase II promoter protein dimerization activity paraxial mesoderm development muscle organ morphogenesis skeletal system morphogenesis neuromuscular process controlling posture mesenchymal to epithelial transition RNA polymerase II transcription factor complex regulation of extracellular matrix organization  uc002wdz.1 uc002wdz.2 uc002wdz.3 uc002wdz.4 uc002wdz.5 
ENST00000246081.3 OTOR ENST00000246081.3 Homo sapiens otoraplin (OTOR), mRNA. (from RefSeq NM_020157) D3DW22 ENST00000246081.1 ENST00000246081.2 FDP MIAL NM_020157 OTOR_HUMAN Q3MIU6 Q9NRC9 UNQ3054/PRO9873 uc002wpj.1 uc002wpj.2 uc002wpj.3 uc002wpj.4 uc002wpj.5 uc002wpj.6 This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]. ##Evidence-Data-START## Transcript exon combination :: AJ242552.1, AF243505.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246081.3/ ENSP00000246081.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Secreted (Potential). Highly expressed in cochlea. Belongs to the MIA/OTOR family. Contains 1 SH3 domain. cartilage condensation extracellular region sensory perception of sound  uc002wpj.1 uc002wpj.2 uc002wpj.3 uc002wpj.4 uc002wpj.5 uc002wpj.6 
ENST00000246090.6 BANF2 ENST00000246090.6 Homo sapiens BANF family member 2 (BANF2), transcript variant 1, mRNA. (from RefSeq NM_178477) BAFL BAFL_HUMAN C20orf179 D3DW25 ENST00000246090.1 ENST00000246090.2 ENST00000246090.3 ENST00000246090.4 ENST00000246090.5 NM_178477 Q7Z4M6 Q9H503 uc002wpz.1 uc002wpz.2 uc002wpz.3 uc002wpz.4 May play a role in BANF1 regulation and influence tissue-specific roles of BANF1. Homodimer. Heterodimerizes with BANF1. Nucleus. Cytoplasm. Expressed strongly in testis and pancreas. Also detected in brain, colon, liver, lung, ovary, placenta, prostate, small intestine, spleen and thymus. Not detected in heart, kidney and skeletal muscle. Belongs to the BAF family. In contrast to BANF1, it does not seems to bind DNA. DNA binding nucleus nucleoplasm cytoplasm chromosome segregation chromosome condensation  uc002wpz.1 uc002wpz.2 uc002wpz.3 uc002wpz.4 
ENST00000246100.3 FAM110A ENST00000246100.3 Homo sapiens family with sequence similarity 110 member A (FAM110A), transcript variant 2, mRNA. (from RefSeq NM_207121) C20orf55 D3DVW2 ENST00000246100.1 ENST00000246100.2 F10 F110A_HUMAN NM_207121 Q5R1M7 Q9BQ89 uc002weg.1 May interact with CSPP1 (Potential). P16333:NCK1; NbExp=2; IntAct=EBI-1752811, EBI-389883; Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytoskeleton, spindle pole. Note=Distributed throughout the cytoplasm during mitosis, accumulating at spindle poles. Detected in thyroid, lymph node, trachea, adrenal gland, bone marrow, spleen, thymus, prostate, and peripheral blood leukocyte. Detected at lower levels in stomach, testis and spinal cord. During the cell cycle, expression is increased during S phase and G2/M phase. Up-regulated in stimulated lymphocytes. Belongs to the FAM110 family. spindle pole protein binding cytoplasm microtubule organizing center cytoskeleton  uc002weg.1 
ENST00000246104.7 SCRT2 ENST00000246104.7 Homo sapiens scratch family transcriptional repressor 2 (SCRT2), mRNA. (from RefSeq NM_033129) ENST00000246104.1 ENST00000246104.2 ENST00000246104.3 ENST00000246104.4 ENST00000246104.5 ENST00000246104.6 FP7030 NM_033129 Q9NQ03 SCRT2_HUMAN uc002wec.1 uc002wec.2 uc002wec.3 uc002wec.4 May be involved in transcriptional regulation. Nucleus (Potential). Belongs to the snail C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding E-box binding negative regulation of extrinsic apoptotic signaling pathway via death domain receptors regulation of neuron migration  uc002wec.1 uc002wec.2 uc002wec.3 uc002wec.4 
ENST00000246105.4 DEFB129 ENST00000246105.4 Homo sapiens defensin beta 129 (DEFB129), mRNA. (from RefSeq NM_080831) C20orf87 DB129_HUMAN DEFB29 ENST00000246105.1 ENST00000246105.2 ENST00000246105.3 NM_080831 Q8NES7 Q9H1M3 UNQ5794/PRO19599 uc002wda.1 uc002wda.2 uc002wda.3 Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.366842.1, GQ891507.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246105.4/ ENSP00000246105.4 Protein has antimicrobial activity :: PMID: 12620395 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Has antibacterial activity (Potential). Secreted (Potential). Expressed specifically in testis. Belongs to the beta-defensin family. extracellular region defense response defense response to bacterium innate immune response  uc002wda.1 uc002wda.2 uc002wda.3 
ENST00000246108.3 RAD21L1 ENST00000246108.3 RAD21 cohesin complex component like 1 (from HGNC RAD21L1) A0A140T8W2 BC157891 ENST00000246108.1 ENST00000246108.2 uc061uxm.1  uc061uxm.1 
ENST00000246112.9 TLE6 ENST00000246112.9 Homo sapiens TLE family member 6, subcortical maternal complex member (TLE6), transcript variant 1, mRNA. (from RefSeq NM_001143986) ENST00000246112.1 ENST00000246112.2 ENST00000246112.3 ENST00000246112.4 ENST00000246112.5 ENST00000246112.6 ENST00000246112.7 ENST00000246112.8 NM_001143986 Q9H808 TLE6_HUMAN uc002lwt.1 uc002lwt.2 uc002lwt.3 uc002lwt.4 This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions (By similarity). Component of the SCMC which also includes at least OOEP and NLRP5. Cytoplasm. Note=In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity). Belongs to the WD repeat Groucho/TLE family. Contains 7 WD repeats. transcription corepressor activity protein binding nucleus transcription factor complex cytoplasm regulation of transcription, DNA-templated macromolecular complex embryonic process involved in female pregnancy repressing transcription factor binding negative regulation of canonical Wnt signaling pathway negative regulation of nucleic acid-templated transcription  uc002lwt.1 uc002lwt.2 uc002lwt.3 uc002lwt.4 
ENST00000246115.5 S1PR4 ENST00000246115.5 Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA. (from RefSeq NM_003775) D6W612 EDG6 ENST00000246115.1 ENST00000246115.2 ENST00000246115.3 ENST00000246115.4 NM_003775 O95977 S1PR4_HUMAN uc002lxg.1 uc002lxg.2 uc002lxg.3 uc002lxg.4 uc002lxg.5 This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC014970.1, SRR1163655.348672.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246115.5/ ENSP00000246115.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for the lysosphingolipid sphingosine 1- phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. May be involved in cell migration processes that are specific for lymphocytes. Cell membrane; Multi-pass membrane protein. Specifically expressed in fetal and adult lymphoid and hematopoietic tissue as well as in lung. Considerable level of expression in adult and fetal spleen as well as adult peripheral leukocytes and lung. Lower expression in adult thymus, lymph node, bone marrow, and appendix as well as in fetal liver, thymus, and lung. Belongs to the G-protein coupled receptor 1 family. sphingosine-1-phosphate signaling pathway G-protein coupled receptor activity mitochondrion plasma membrane integral component of plasma membrane immune response signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway activation of phospholipase C activity positive regulation of cytosolic calcium ion concentration lipid binding membrane integral component of membrane sphingosine-1-phosphate receptor activity  uc002lxg.1 uc002lxg.2 uc002lxg.3 uc002lxg.4 uc002lxg.5 
ENST00000246117.9 NCLN ENST00000246117.9 Homo sapiens nicalin (NCLN), transcript variant 1, mRNA. (from RefSeq NM_020170) D6W613 ENST00000246117.1 ENST00000246117.2 ENST00000246117.3 ENST00000246117.4 ENST00000246117.5 ENST00000246117.6 ENST00000246117.7 ENST00000246117.8 NCLN_HUMAN NM_020170 O75252 Q6FI60 Q6ZMB7 Q8TAT7 Q969V3 Q96H48 Q96IS7 Q9BQH9 Q9BTX4 Q9NPP2 uc002lxi.1 uc002lxi.2 uc002lxi.3 uc002lxi.4 uc002lxi.5 May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning (By similarity). Forms a complex with NOMO2 and TMEM147, resulting in a stabilization of the 3 proteins, which are otherwise quickly degraded by the proteasome. Due to the strong similarity between NOMO1, NOMO2 and NOMO3, probably also interacts with NOMO1 and NOMO3. Participates in a large protein complex, which is not related to the gamma-secretase complex. Endoplasmic reticulum membrane; Single-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q969V3-1; Sequence=Displayed; Name=2; IsoId=Q969V3-2; Sequence=VSP_013851; Highly expressed in pancreas and skeletal muscle and, at lower levels, in heart. Belongs to the nicastrin family. Sequence=AAH03076.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH25926.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB66502.1; Type=Erroneous initiation; Note=Translation N-terminally extended; protein binding endoplasmic reticulum endoplasmic reticulum membrane regulation of signal transduction membrane integral component of membrane macromolecular complex regulation of protein complex assembly protein stabilization regulation of protein complex stability  uc002lxi.1 uc002lxi.2 uc002lxi.3 uc002lxi.4 uc002lxi.5 
ENST00000246139.9 CITED1 ENST00000246139.9 Homo sapiens Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 (CITED1), transcript variant 1, mRNA. (from RefSeq NM_004143) B5BU50 B5BUI2 CITE1_HUMAN ENST00000246139.1 ENST00000246139.2 ENST00000246139.3 ENST00000246139.4 ENST00000246139.5 ENST00000246139.6 ENST00000246139.7 ENST00000246139.8 MSG1 NM_004143 Q99966 uc004eas.1 uc004eas.2 uc004eas.3 uc004eas.4 This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. Transcriptional coactivator of the p300/CBP-mediated trancription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner. Interacts (via C-terminus) with CREBBP. Interacts with EGR2 (By similarity). Homodimer. Binds to RBM14. Interacts (via N- terminus) with HSPA8; the interaction suppresses the association of CITED1 with p300/CBP and SMAD-mediated transcription transactivation. Interacts (via C-terminus) with TOX3 (via HGM box); the interaction increases estrogen-response element (ERE)- dependent transcription and protection against cell death. Interacts with ESR1; the interaction occurs in a estrogen- dependent manner (By similarity). Interacts (unphosphorylated form preferentially and via C-terminus) with EP300. P03372:ESR1; NbExp=3; IntAct=EBI-2624951, EBI-78473; Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm by a nuclear export signal and (NES) in a CRM1-dependent manner. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99966-1; Sequence=Displayed; Name=2; IsoId=Q99966-2; Sequence=VSP_039897; Note=No experimental confirmation available; Expressed only in melanocytes and testis. Up-regulated by GPR39 in neuronal cells. Phosphorylated. Phosphorylation changes in a cell cycle- dependent manner and reduces its transcriptional coactivator activity. Belongs to the CITED family. Sequence=N30508; Type=Frameshift; Positions=67; embryonic axis specification vasculogenesis metanephros development branching involved in ureteric bud morphogenesis placenta development negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter nucleocytoplasmic transport apoptotic process transforming growth factor beta receptor signaling pathway multicellular organism development brain development protein C-terminus binding positive regulation of gene expression cell differentiation negative regulation of Wnt signaling pathway melanocyte differentiation positive regulation of transforming growth factor beta receptor signaling pathway response to lipopolysaccharide response to insulin response to cytokine response to interferon-gamma melanin biosynthetic process protein homodimerization activity regulation of apoptotic process pigmentation negative regulation of neuron apoptotic process response to estrogen transcription regulatory region DNA binding negative regulation of osteoblast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated LBD domain binding response to cAMP mesenchymal to epithelial transition SMAD protein signal transduction labyrinthine layer development spongiotrophoblast layer development co-SMAD binding response to interleukin-1 response to interleukin-2 response to interleukin-4 response to interleukin-6 response to interleukin-9 response to interleukin-11 response to parathyroid hormone response to transforming growth factor beta positive regulation of mesenchymal stem cell proliferation  uc004eas.1 uc004eas.2 uc004eas.3 uc004eas.4 
ENST00000246149.10 ANKHD1 ENST00000246149.10 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H3BLS9) AY070436 ENST00000246149.1 ENST00000246149.2 ENST00000246149.3 ENST00000246149.4 ENST00000246149.5 ENST00000246149.6 ENST00000246149.7 ENST00000246149.8 ENST00000246149.9 H3BLS9 H3BLS9_HUMAN uc063hus.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.  uc063hus.1 
ENST00000246151.9 PITHD1 ENST00000246151.9 Homo sapiens PITH domain containing 1 (PITHD1), mRNA. (from RefSeq NM_020362) AD039 B2R7J4 C1orf128 ENST00000246151.1 ENST00000246151.2 ENST00000246151.3 ENST00000246151.4 ENST00000246151.5 ENST00000246151.6 ENST00000246151.7 ENST00000246151.8 HT014 NM_020362 PITH1_HUMAN PP603 Q5QPN6 Q5QPN7 Q9GZP4 Q9NRI8 uc001bhq.1 uc001bhq.2 uc001bhq.3 uc001bhq.4 uc001bhq.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GZP4-1; Sequence=Displayed; Name=2; IsoId=Q9GZP4-2; Sequence=VSP_024807; Belongs to the PITHD1 family. Contains 1 PITH domain. Sequence=CAI23142.1; Type=Erroneous gene model prediction; nucleus  uc001bhq.1 uc001bhq.2 uc001bhq.3 uc001bhq.4 uc001bhq.5 
ENST00000246163.2 MAX ENST00000246163.2 Homo sapiens MYC associated factor X (MAX), transcript variant 4, mRNA. (from RefSeq NM_145114) A8K265 A8K4G4 A8K824 BHLHD4 ENST00000246163.1 MAX_HUMAN NM_145114 P25912 P52163 P61244 Q14803 Q96CY8 uc001xik.1 uc001xik.2 uc001xik.3 uc001xik.4 uc001xik.5 The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MYC or MAD which recognizes the core sequence 5'-CAC[GA]TG-3'. The MYC-MAX complex is a transcriptional activator, whereas the MAD-MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MYC or MAD. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components C17orf49, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with SPAG9. Q99814:EPAS1; NbExp=2; IntAct=EBI-751711, EBI-447470; P02794:FTH1; NbExp=2; IntAct=EBI-751711, EBI-713259; Q9UBS5:GABBR1; NbExp=3; IntAct=EBI-751711, EBI-724156; Q9Y6D9:MAD1L1; NbExp=2; IntAct=EBI-751711, EBI-742610; P01106:MYC; NbExp=21; IntAct=EBI-751711, EBI-447544; Nucleus. Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist; Name=1; Synonyms=Long; IsoId=P61244-1, P25912-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P61244-2, P25912-2; Sequence=VSP_002117; Name=3; Synonyms=Delta-Max; IsoId=P61244-3, P25912-3; Sequence=VSP_002118; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=4; IsoId=P61244-4; Sequence=VSP_043183; Name=5; IsoId=P61244-5; Sequence=VSP_043430; Note=No experimental confirmation available; High levels found in the brain, heart and lung while lower levels are seen in the liver, kidney and skeletal muscle. Reversible lysine acetylation might regulate the nuclear- cytoplasmic shuttling of specific Max complexes. Belongs to the MAX family. Contains 1 bHLH (basic helix-loop-helix) domain. G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription cofactor activity transcription coactivator activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter cellular response to starvation response to organonitrogen compound negative regulation of gene expression PML body dendrite response to insulin protein-DNA complex protein homodimerization activity cell projection sequence-specific DNA binding macromolecular complex binding positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity response to axon injury neuron apoptotic process retina development in camera-type eye macromolecular complex assembly negative regulation of G0 to G1 transition E-box binding MLL1 complex cellular response to peptide hormone stimulus RNA polymerase II transcription factor complex RNA polymerase II regulatory region sequence-specific DNA binding  uc001xik.1 uc001xik.2 uc001xik.3 uc001xik.4 uc001xik.5 
ENST00000246166.3 FNTB ENST00000246166.3 Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA. (from RefSeq NM_002028) B2RDX6 ENST00000246166.1 ENST00000246166.2 FNTB_HUMAN NM_002028 P49356 uc001xia.1 uc001xia.2 uc001xia.3 uc001xia.4 uc001xia.5 Catalyzes the transfer of a farnesyl moiety from farnesyl pyrophosphate to a cysteine at the fourth position from the C-terminus of several proteins. The beta subunit is responsible for peptide-binding. Farnesyl diphosphate + protein-cysteine = S- farnesyl protein + diphosphate. Binds 1 zinc ion per subunit. Heterodimer of an alpha and a beta subunit. P49354:FNTA; NbExp=7; IntAct=EBI-602349, EBI-602336; Belongs to the protein prenyltransferase subunit beta family. Contains 5 PFTB repeats. catalytic activity prenyltransferase activity protein farnesyltransferase activity protein binding cytosol microtubule associated complex protein farnesyltransferase complex zinc ion binding transferase activity protein prenylation protein farnesylation regulation of rhodopsin mediated signaling pathway metal ion binding  uc001xia.1 uc001xia.2 uc001xia.3 uc001xia.4 uc001xia.5 
ENST00000246174.6 ARMCX5 ENST00000246174.6 Homo sapiens armadillo repeat containing X-linked 5 (ARMCX5), transcript variant 5, mRNA. (from RefSeq NM_001168485) ARMX5_HUMAN B3KU88 D3DX99 ENST00000246174.1 ENST00000246174.2 ENST00000246174.3 ENST00000246174.4 ENST00000246174.5 NM_001168485 Q68DB4 Q6P1M9 Q9BVZ3 Q9H969 uc004ejg.1 uc004ejg.2 uc004ejg.3 uc004ejg.4 Contains 3 ARM repeats. protein binding  uc004ejg.1 uc004ejg.2 uc004ejg.3 uc004ejg.4 
ENST00000246186.8 MMP24 ENST00000246186.8 Homo sapiens matrix metallopeptidase 24 (MMP24), mRNA. (from RefSeq NM_006690) B7ZBG8 ENST00000246186.1 ENST00000246186.2 ENST00000246186.3 ENST00000246186.4 ENST00000246186.5 ENST00000246186.6 ENST00000246186.7 MMP24_HUMAN MT5MMP NM_006690 Q9H440 Q9Y5R2 uc002xbu.1 uc002xbu.2 uc002xbu.3 uc002xbu.4 This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC047614.1, SRR1660803.189864.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246186.8/ ENSP00000246186.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Activates progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin (By similarity). Binds 1 zinc ion per subunit (By similarity). Calcium (By similarity). Cell membrane; Single-pass type I membrane protein; Extracellular side (By similarity). Processed matrix metalloproteinase-24: Secreted, extracellular space, extracellular matrix (By similarity). Note=Also shed from cell surface as soluble proteinase, by a proteolytic cleavage (By similarity). Predominantly expressed in brain, kidney, pancreas and lung. Overexpressed in a series of brain tumors, including astrocytomas and glioblastomas. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme. The precursor is cleaved by a furin endopeptidase (By similarity). Belongs to the peptidase M10A family. Contains 4 hemopexin-like domains. metalloendopeptidase activity extracellular region extracellular space Golgi apparatus plasma membrane integral component of plasma membrane proteolysis cell adhesion enzyme activator activity peptidase activity metallopeptidase activity zinc ion binding glial cell differentiation membrane integral component of membrane hydrolase activity extracellular matrix organization collagen catabolic process extracellular matrix trans-Golgi network membrane positive regulation of catalytic activity cell-cell adhesion mediated by cadherin cadherin binding metal ion binding detection of temperature stimulus involved in sensory perception of pain extracellular exosome neuronal stem cell population maintenance cell-cell adhesion via plasma-membrane adhesion molecules  uc002xbu.1 uc002xbu.2 uc002xbu.3 uc002xbu.4 
ENST00000246190.11 NECAB3 ENST00000246190.11 Homo sapiens N-terminal EF-hand calcium binding protein 3 (NECAB3), transcript variant 2, mRNA. (from RefSeq NM_031232) A8K780 APBA2BP E1P5N2 ENST00000246190.1 ENST00000246190.10 ENST00000246190.2 ENST00000246190.3 ENST00000246190.4 ENST00000246190.5 ENST00000246190.6 ENST00000246190.7 ENST00000246190.8 ENST00000246190.9 NECA3_HUMAN NIP1 NM_031232 Q5JWF5 Q5JWF6 Q5JWF7 Q86VV1 Q96P71 Q9H433 Q9H8G8 Q9HBW7 Q9HCQ9 SYTIP2 XB51 uc002wzn.1 uc002wzn.2 uc002wzn.3 uc002wzn.4 uc002wzn.5 uc002wzn.6 The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Inhibits the interaction of APBA2 with beta-amyloid precursor protein (APP), and hence allows formation of beta- amyloid. Interacts with the N-terminal domain of APBA2. Interacts with NEK2. Golgi apparatus. Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms; Name=2; Synonyms=XB51-alpha; IsoId=Q96P71-1; Sequence=Displayed; Name=1; Synonyms=XB51-beta; IsoId=Q96P71-2; Sequence=VSP_000739; Name=3; IsoId=Q96P71-3; Sequence=VSP_000737, VSP_000738; Note=May result from the retention of an intron in the cDNA; Strongly expressed in heart and skeletal muscle, moderately in brain and pancreas. Phosphorylated by NEK2. Contains 1 ABM domain. Contains 1 EF-hand domain. Sequence=BAB14649.1; Type=Frameshift; Positions=56; Sequence=BAB16413.1; Type=Erroneous initiation; Golgi cis cisterna calcium ion binding protein binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus protein secretion protein metabolic process regulation of amyloid precursor protein biosynthetic process metal ion binding  uc002wzn.1 uc002wzn.2 uc002wzn.3 uc002wzn.4 uc002wzn.5 uc002wzn.6 
ENST00000246194.8 RALY ENST00000246194.8 Homo sapiens RALY heterogeneous nuclear ribonucleoprotein (RALY), transcript variant 1, mRNA. (from RefSeq NM_016732) ENST00000246194.1 ENST00000246194.2 ENST00000246194.3 ENST00000246194.4 ENST00000246194.5 ENST00000246194.6 ENST00000246194.7 HNRPCL2 NM_016732 P542 Q14621 Q2M365 Q5QPL8 Q9BQX6 Q9UJE3 Q9UKM9 RALY_HUMAN uc002xab.1 uc002xab.2 uc002xab.3 uc002xab.4 uc002xab.5 This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]. Probable-RNA binding protein. Could be a heterogeneous nuclear ribonucleoprotein (hnRNP). May be involved in pre-mRNA splicing (By similarity). Identified in the spliceosome C complex. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=Q9UKM9-1; Sequence=Displayed; Name=1; IsoId=Q9UKM9-2; Sequence=VSP_005804; Expressed in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. Weakly expressed in placenta. Phosphorylated upon DNA damage, probably by ATM or ATR. Autoantigen found in infectious mononucleosis caused by Epstein-Barr virus. An epitope recognized by B-cells, which cross-react with the BKRF1 protein (EBNA-1 nuclear protein) of Epstein-Barr virus has been identified. Belongs to the RRM HNRPC family. RALY subfamily. Contains 1 RRM (RNA recognition motif) domain. mRNA splicing, via spliceosome nucleic acid binding transcription cofactor activity RNA binding protein binding nucleus spliceosomal complex mRNA processing RNA splicing cholesterol homeostasis catalytic step 2 spliceosome regulation of nucleic acid-templated transcription  uc002xab.1 uc002xab.2 uc002xab.3 uc002xab.4 uc002xab.5 
ENST00000246199.5 C20orf173 ENST00000246199.5 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96LM9-1; Sequence=Displayed; Name=2; IsoId=Q96LM9-2; Sequence=VSP_040891; (from UniProt Q96LM9) A6PVJ1 AK058089 CT173_HUMAN ENST00000246199.1 ENST00000246199.2 ENST00000246199.3 ENST00000246199.4 Q2M293 Q5JWS4 Q96LM9 Q9H449 uc002xcp.1 uc002xcp.2 uc002xcp.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96LM9-1; Sequence=Displayed; Name=2; IsoId=Q96LM9-2; Sequence=VSP_040891;  uc002xcp.1 uc002xcp.2 uc002xcp.3 
ENST00000246222.3 BPIFB9P ENST00000246222.3 BPI fold containing family B member 9, pseudogene (from HGNC BPIFB9P) ENST00000246222.1 ENST00000246222.2 uc286sha.1  uc286sha.1 
ENST00000246229.5 PLAGL2 ENST00000246229.5 Homo sapiens PLAG1 like zinc finger 2 (PLAGL2), mRNA. (from RefSeq NM_002657) A8K8T5 E1P5M3 ENST00000246229.1 ENST00000246229.2 ENST00000246229.3 ENST00000246229.4 KIAA0198 NM_002657 PLAL2_HUMAN Q92584 Q9UPG8 uc002wxn.1 uc002wxn.2 uc002wxn.3 uc002wxn.4 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D83784.1, AF006005.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246229.5/ ENSP00000246229.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Shows weak transcriptional activatory activity. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers. Sequence=BAA12113.1; Type=Erroneous initiation; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PLAGL2ID41738ch20q11.html"; RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription, DNA-templated lipid metabolic process post-embryonic development chylomicron assembly sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of intrinsic apoptotic signaling pathway  uc002wxn.1 uc002wxn.2 uc002wxn.3 uc002wxn.4 
ENST00000246314.10 AGO3 ENST00000246314.10 Homo sapiens argonaute RISC catalytic component 3 (AGO3), transcript variant 2, mRNA. (from RefSeq NM_177422) AGO3_HUMAN B1ALI0 EIF2C3 ENST00000246314.1 ENST00000246314.2 ENST00000246314.3 ENST00000246314.4 ENST00000246314.5 ENST00000246314.6 ENST00000246314.7 ENST00000246314.8 ENST00000246314.9 NM_177422 Q5TA55 Q9H1U6 Q9H9G7 uc001bzq.1 uc001bzq.2 uc001bzq.3 uc001bzq.4 This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Interacts with EIF4B, IMP8, PRMT5 and TNRC6B. O15397:IPO8; NbExp=5; IntAct=EBI-2267883, EBI-358808; Cytoplasm, P-body. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H9G7-1; Sequence=Displayed; Name=2; IsoId=Q9H9G7-2; Sequence=VSP_041084; Belongs to the argonaute family. Ago subfamily. Contains 1 PAZ domain. Contains 1 Piwi domain. condensed nuclear chromosome P-body nucleic acid binding RNA binding double-stranded RNA binding single-stranded RNA binding nuclease activity endonuclease activity endoribonuclease activity protein binding nucleoplasm cytoplasm cytosol mRNA catabolic process regulation of translation Wnt signaling pathway, calcium modulating pathway RNA secondary structure unwinding positive regulation of gene expression negative regulation of gene expression membrane RISC complex hydrolase activity gene silencing by RNA pre-miRNA processing posttranscriptional gene silencing by RNA production of miRNAs involved in gene silencing by miRNA miRNA binding miRNA mediated inhibition of translation mRNA cleavage involved in gene silencing by miRNA miRNA loading onto RISC involved in gene silencing by miRNA cytoplasmic ribonucleoprotein granule regulation of megakaryocyte differentiation metal ion binding RISC-loading complex regulation of stem cell proliferation nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic endoribonuclease activity, cleaving miRNA-paired mRNA positive regulation of NIK/NF-kappaB signaling mRNA cleavage involved in gene silencing by siRNA  uc001bzq.1 uc001bzq.2 uc001bzq.3 uc001bzq.4 
ENST00000246337.9 UROD ENST00000246337.9 Homo sapiens uroporphyrinogen decarboxylase (UROD), transcript variant 4, non-coding RNA. (from RefSeq NR_158185) A8K762 DCUP_HUMAN ENST00000246337.1 ENST00000246337.2 ENST00000246337.3 ENST00000246337.4 ENST00000246337.5 ENST00000246337.6 ENST00000246337.7 ENST00000246337.8 NR_158185 P06132 Q16863 Q16883 Q53YB8 Q53ZP6 Q6IB28 Q9BUZ0 uc001cna.1 uc001cna.2 uc001cna.3 uc001cna.4 This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189661.114087.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III. Uroporphyrinogen III = coproporphyrinogen + 4 CO(2). Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4. Homodimer. Cytoplasm. Defects in UROD are the cause of familial porphyria cutanea tarda (FPCT) [MIM:176100]; also known as porphyria cutanea tarda type II. FPCT is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. Besides the familial form of PCT, a relatively common idiosyncratic form is known in which only the liver enzyme is reduced. This form is referred to as porphyria cutanea tarda "sporadic" type or type I [MIM:176090]. PCT type I occurs sporadically as an unusual accompaniment of common hepatic disorders such as alcohol- associated liver disease. Defects in UROD are the cause of hepatoerythropoietic porphyria (HEP) [MIM:176100]. HEP is a rare autosomal recessive disorder. It is the severe form of cutaneous porphyria, and presents in infancy. The level of UROD is very low in erythrocytes and cultured skin fibroblasts, suggesting that HEP is the homozygous state for porphyria cutanea tarda. Belongs to the uroporphyrinogen decarboxylase family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UROD"; Name=Wikipedia; Note=Uroporphyrinogen III decarboxylase entry; URL="http://en.wikipedia.org/wiki/Uroporphyrinogen_III_decarboxylase"; uroporphyrinogen decarboxylase activity protein binding nucleoplasm cytoplasm cytosol porphyrin-containing compound biosynthetic process protoporphyrinogen IX biosynthetic process heme biosynthetic process lyase activity carboxy-lyase activity heme metabolic process  uc001cna.1 uc001cna.2 uc001cna.3 uc001cna.4 
ENST00000246421.4 ENSG00000290854 ENST00000246421.4 ENSG00000290854 (from geneSymbol) ENST00000246421.1 ENST00000246421.2 ENST00000246421.3 NR_173244 uc285fxh.1  uc285fxh.1 
ENST00000246489.11 KLC1 ENST00000246489.11 Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity. (from UniProt Q07866) A6NF62 ENST00000246489.1 ENST00000246489.10 ENST00000246489.2 ENST00000246489.3 ENST00000246489.4 ENST00000246489.5 ENST00000246489.6 ENST00000246489.7 ENST00000246489.8 ENST00000246489.9 KLC KLC1_HUMAN KNS2 NM_001394845 Q07866 Q7RTM2 Q7RTM3 Q7RTM5 Q7RTP9 Q7RTQ5 Q7RTQ6 Q86SF5 Q86TF5 Q86V74 Q86V75 Q86V76 Q86V77 Q86V78 Q86V79 Q96H62 uc059fsp.1 Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity. Oligomeric complex composed of two heavy chains and two light chains. Interacts with SPAG9 (By similarity). Interacts with ATCAY; may link mitochondria to KLC1 and regulate mitochondria localization into neuron projections (By similarity). Cytoplasm, cytoskeleton (Probable). Event=Alternative splicing; Named isoforms=9; Comment=Additional isoforms seem to exist. Has the potential to produce 285'919 splice forms; Name=A; IsoId=Q07866-1; Sequence=Displayed; Name=C; Synonyms=KLC1C, R, KLC1R; IsoId=Q07866-2; Sequence=VSP_008018; Name=G; Synonyms=KLC1G; IsoId=Q07866-3; Sequence=VSP_008017; Name=J; Synonyms=KLC1J; IsoId=Q07866-4; Sequence=VSP_008019, VSP_008020; Note=Phosphorylated on Ser-600 (Probable). Phosphorylated on Ser-631. Ref.2 (AAO62555) sequence is in conflict in position: 631:S->T; Name=K; Synonyms=KLC1K; IsoId=Q07866-5; Sequence=VSP_008019; Name=N; Synonyms=KLC1N; IsoId=Q07866-6; Sequence=VSP_008017, VSP_008019, VSP_008020; Note=Phosphorylated on Ser-591 and Ser-622 (Probable). Ref.2 (AAO62551) sequence is in conflict in position: 622:S->T; Name=P; Synonyms=KLC1P; IsoId=Q07866-7; Sequence=VSP_008021; Note=Phosphorylated on Ser-547 and Ser-578 (Probable); Name=S; Synonyms=KLC1S, Q, KLC1Q; IsoId=Q07866-8; Sequence=VSP_008017, VSP_008018; Name=I; IsoId=Q07866-9; Sequence=VSP_023323; Note=Phosphorylated on Ser-600; Found in a variety of tissues. Mostly abundant in brain and spine. Isoform I is phosphorylated on Ser-600. Isoform J is phosphorylated on Ser-631. Belongs to the kinesin light chain family. Contains 6 TPR repeats. It is uncertain whether Met-1 or Met-5 is the initiator. Sequence=AAA16576.1; Type=Erroneous initiation; Sequence=AAF72543.1; Type=Erroneous initiation; Sequence=AAO62549.1; Type=Erroneous initiation; Sequence=DAA01265.1; Type=Erroneous initiation; Sequence=DAA01266.1; Type=Erroneous initiation; Sequence=DAA01268.1; Type=Erroneous initiation; Sequence=DAA01291.1; Type=Erroneous initiation; Sequence=DAA01292.1; Type=Erroneous initiation; Sequence=DAA01295.1; Type=Erroneous initiation; Sequence=DAA01296.1; Type=Erroneous initiation; Sequence=DAA01297.1; Type=Erroneous initiation; motor activity microtubule motor activity protein binding cytoplasm cytosol cytoskeleton kinesin complex microtubule retrograde vesicle-mediated transport, Golgi to ER microtubule-based movement membrane viral process antigen processing and presentation of exogenous peptide antigen via MHC class II growth cone cytoplasmic vesicle stress granule disassembly cell projection  uc059fsp.1 
ENST00000246505.9 PCID2 ENST00000246505.9 Homo sapiens PCI domain containing 2 (PCID2), transcript variant 7, mRNA. (from RefSeq NM_001320656) A6NK09 ENST00000246505.1 ENST00000246505.2 ENST00000246505.3 ENST00000246505.4 ENST00000246505.5 ENST00000246505.6 ENST00000246505.7 ENST00000246505.8 HT004 NM_001320656 PCID2_HUMAN Q3ZCX1 Q5JVF3 Q5TC57 Q5TC58 Q9H7K1 Q9HBZ7 Q9NUK6 Q9NVY1 Q9NW44 Q9NWH3 uc058yly.1 This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Required for B-cell survival through the regulation of the expression of cell-cycle checkpoint MAD2L1 protein during B cell differentiation (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q5JVF3-1; Sequence=Displayed; Name=2; IsoId=Q5JVF3-2; Sequence=VSP_016843; Note=No experimental confirmation available; Name=3; IsoId=Q5JVF3-3; Sequence=VSP_016845; Note=No experimental confirmation available; Name=4; IsoId=Q5JVF3-4; Sequence=VSP_016844; Note=No experimental confirmation available; Belongs to the CSN12 family. Contains 1 PCI domain. Sequence=AAG09695.1; Type=Frameshift; Positions=48; Sequence=BAB15768.1; Type=Erroneous initiation; posttranscriptional tethering of RNA polymerase II gene DNA at nuclear periphery double-stranded DNA binding RNA binding protein binding cellular_component nucleus nuclear pore cytoplasm transcription elongation from RNA polymerase II promoter protein transport poly(A)+ mRNA export from nucleus negative regulation of apoptotic process regulation of mRNA stability nuclear pore nuclear basket positive regulation of B cell differentiation positive regulation of transcription, DNA-templated spleen development mRNA transport transcription export complex 2 nuclear retention of pre-mRNA at the site of transcription positive regulation of mitotic cell cycle spindle assembly checkpoint negative regulation of cysteine-type endopeptidase activity transcriptionally active chromatin  uc058yly.1 
ENST00000246515.2 SLURP1 ENST00000246515.2 Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA. (from RefSeq NM_020427) ARS ENST00000246515.1 NM_020427 P55000 Q53YJ6 Q6PUA6 Q92483 SLUR1_HUMAN uc003ywy.1 uc003ywy.2 uc003ywy.3 uc003ywy.4 The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC105135.1, BQ027886.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246515.2/ ENSP00000246515.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Has an antitumor activity. Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin. Homodimer. Secreted. Granulocytes. Expressed in skin. Predominantly expressed in the granular layer of skin, notably the acrosyringium. Identified in several biological fluids such as sweat, saliva, tears, plasma and urine. Regulated by retinoic acid, EGF and IFNG/IFN-gamma. Defects in SLURP1 are a cause of Mal de Meleda (MDM) [MIM:248300]; also known as keratosis palmoplantaris transgradiens of Siemens. MDM is a rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities. Contains 1 UPAR/Ly6 domain. It is not certain that ARS and ANUP are identical proteins. cell activation cytokine activity protein binding extracellular region extracellular space cell adhesion locomotory behavior negative regulation of cell proliferation negative regulation of keratinocyte proliferation negative regulation of cell migration acetylcholine receptor activator activity urokinase plasminogen activator signaling pathway neuromuscular process controlling posture extracellular exosome regulation of neurotransmitter receptor activity  uc003ywy.1 uc003ywy.2 uc003ywy.3 uc003ywy.4 
ENST00000246529.4 LRFN3 ENST00000246529.4 Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA. (from RefSeq NM_024509) ENST00000246529.1 ENST00000246529.2 ENST00000246529.3 LRFN3_HUMAN NM_024509 Q6UY10 Q9BTN0 SALM4 UNQ5865/PRO34192 uc060xla.1 uc060xla.2 Cell adhesion molecule that mediates homophilic cell- cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons (By similarity). Can form heteromeric complexes with LRFN1, LRFN2, LRFN4 and LRFN5. Able to form homomeric complexes across cell junctions, between adjacent cells. Does not interact with DLG4 (By similarity). Cell membrane; Single-pass type I membrane protein (By similarity). Cell projection, axon (By similarity). Cell projection, dendrite (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, presynaptic cell membrane (By similarity). Cell junction, synapse, postsynaptic cell membrane (By similarity). Lacks a cytoplasmic PDZ-binding domain, which has been implicated in function of related Lrfn proteins. N-glycosylated (By similarity). Belongs to the LRFN family. Contains 1 fibronectin type-III domain. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. plasma membrane cell adhesion cell surface membrane integral component of membrane cell junction axon dendrite presynaptic membrane cell projection synapse postsynaptic membrane glutamatergic synapse integral component of presynaptic active zone membrane integral component of postsynaptic specialization membrane integral component of postsynaptic density membrane synaptic membrane adhesion regulation of presynapse assembly  uc060xla.1 uc060xla.2 
ENST00000246532.6 IGFLR1 ENST00000246532.6 Homo sapiens IGF like family receptor 1 (IGFLR1), transcript variant 10, non-coding RNA. (from RefSeq NR_144342) ENST00000246532.1 ENST00000246532.2 ENST00000246532.3 ENST00000246532.4 ENST00000246532.5 IGFR1_HUMAN NR_144342 Q8N5X0 Q9H665 TMEM149 U2AF1L4 uc002obd.1 uc002obd.2 uc002obd.3 uc002obd.4 uc002obd.5 uc002obd.6 Probable cell membrane receptor for the IGF-like family proteins. Binds IGFL1 and IGFL3 with a higher affinity. May also bind IGFL2. Q6UW32:IGFL1; NbExp=5; IntAct=EBI-3870439, EBI-3870426; Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H665-1; Sequence=Displayed; Name=2; IsoId=Q9H665-2; Sequence=VSP_026145; Up-regulated by the proinflammatory cytokine TNFA and in skin upon tissue inflammation. protein binding plasma membrane membrane integral component of membrane  uc002obd.1 uc002obd.2 uc002obd.3 uc002obd.4 uc002obd.5 uc002obd.6 
ENST00000246533.8 CAPNS1 ENST00000246533.8 Homo sapiens calpain small subunit 1 (CAPNS1), transcript variant 1, mRNA. (from RefSeq NM_001749) A8K0P1 CAPN4 CAPNS CPNS1_HUMAN ENST00000246533.1 ENST00000246533.2 ENST00000246533.3 ENST00000246533.4 ENST00000246533.5 ENST00000246533.6 ENST00000246533.7 NM_001749 P04632 Q8WTX3 Q96EW0 uc002odj.1 uc002odj.2 uc002odj.3 uc002odj.4 uc002odj.5 This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. Regulatory subunit of the calcium-regulated non- lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Calcium (By similarity). Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates (By similarity). P17655:CAPN2; NbExp=2; IntAct=EBI-711828, EBI-1028956; Cytoplasm (By similarity). Cell membrane (By similarity). Note=Translocates to the plasma membrane upon calcium binding (By similarity). The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer (By similarity). EF-hand domains are paired. EF-hand 1 is paired with EF- hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF- hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant. Contains 5 EF-hand domains. Name=CaBP; Note=Calpain; URL="http://structbio.vanderbilt.edu/cabp_database/general/prot_pages/calpain.html"; Name=Calpains homepage; URL="http://ag.arizona.edu/calpains/"; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/capns1/"; calcium-dependent cysteine-type endopeptidase activity calcium ion binding protein binding cytoplasm cytosol plasma membrane proteolysis positive regulation of cell proliferation membrane regulation of macroautophagy extracellular matrix disassembly metal ion binding extracellular exosome cornification  uc002odj.1 uc002odj.2 uc002odj.3 uc002odj.4 uc002odj.5 
ENST00000246535.4 PDCD2L ENST00000246535.4 Homo sapiens programmed cell death 2 like (PDCD2L), transcript variant 1, mRNA. (from RefSeq NM_032346) ENST00000246535.1 ENST00000246535.2 ENST00000246535.3 NM_032346 PDD2L_HUMAN Q9BRP1 uc002nvj.1 uc002nvj.2 uc002nvj.3 uc002nvj.4 uc002nvj.5 Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase. Higher expression in lung, colon, mammary gland, cervix, stomach and small intestine. protein binding cytoplasm cell cycle membrane  uc002nvj.1 uc002nvj.2 uc002nvj.3 uc002nvj.4 uc002nvj.5 
ENST00000246548.9 UBA2 ENST00000246548.9 Homo sapiens ubiquitin like modifier activating enzyme 2 (UBA2), mRNA. (from RefSeq NM_005499) ENST00000246548.1 ENST00000246548.2 ENST00000246548.3 ENST00000246548.4 ENST00000246548.5 ENST00000246548.6 ENST00000246548.7 ENST00000246548.8 HRIHFB2115 NM_005499 O95605 Q59H87 Q6IBP6 Q9NTJ1 Q9UBT2 Q9UED2 SAE2 SAE2_HUMAN UBLE1B uc002nvk.1 uc002nvk.2 uc002nvk.3 uc002nvk.4 uc002nvk.5 Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK023120.1, SRR3476690.51052.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246548.9/ ENSP00000246548.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2. Protein modification; protein sumoylation. Heterodimer of SAE1 and UBA2/SAE2. The heterodimer corresponds to the two domains that are encoded on a single polypeptide chain in ubiquitin-activating enzyme E1. Interacts with UBE2I. Q9UBE0:SAE1; NbExp=3; IntAct=EBI-718569, EBI-743154; Nucleus. Belongs to the ubiquitin-activating E1 family. nucleotide binding magnesium ion binding protein binding ATP binding nucleus nucleoplasm cytoplasm enzyme activator activity transcription factor binding small protein activating enzyme activity transferase activity protein sumoylation SUMO activating enzyme activity SUMO activating enzyme complex SUMO binding protein modification by small protein conjugation positive regulation of catalytic activity small protein activating enzyme binding ubiquitin-like protein conjugating enzyme binding metal ion binding protein heterodimerization activity  uc002nvk.1 uc002nvk.2 uc002nvk.3 uc002nvk.4 uc002nvk.5 
ENST00000246549.2 FFAR2 ENST00000246549.2 Receptor for short chain fatty acids through a G(i)- protein-mediated inhibition of adenylyl cyclase and elevation of intracellular calcium. The rank order of potency for agonists of this receptor is acetate= propionate = butyrate > pentanoate = formate. (from UniProt O15552) B0M0J9 BC096198 ENST00000246549.1 FFAR2_HUMAN GPR43 O15552 Q4VAZ3 Q4VAZ5 Q4VBL5 uc060xcx.1 Receptor for short chain fatty acids through a G(i)- protein-mediated inhibition of adenylyl cyclase and elevation of intracellular calcium. The rank order of potency for agonists of this receptor is acetate= propionate = butyrate > pentanoate = formate. Cell membrane; Multi-pass membrane protein. Expressed at relatively high levels in peripheral blood leukocytes and, to lesser, extent, in spleen. Belongs to the G-protein coupled receptor 1 family. leukocyte chemotaxis involved in inflammatory response immune system process mucosal immune response regulation of acute inflammatory response positive regulation of cytokine production involved in immune response cell surface pattern recognition receptor signaling pathway positive regulation of acute inflammatory response to non-antigenic stimulus G-protein coupled receptor activity protein binding plasma membrane integral component of plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway lipid binding membrane integral component of membrane lipid storage positive regulation of chemokine production glucose homeostasis cell projection fat cell differentiation cellular response to fatty acid regulation of peptide hormone secretion positive regulation of interleukin-8 secretion  uc060xcx.1 
ENST00000246551.9 HCST ENST00000246551.9 Homo sapiens hematopoietic cell signal transducer (HCST), transcript variant 1, mRNA. (from RefSeq NM_014266) DAP10 ENST00000246551.1 ENST00000246551.2 ENST00000246551.3 ENST00000246551.4 ENST00000246551.5 ENST00000246551.6 ENST00000246551.7 ENST00000246551.8 HCST_HUMAN KAP10 NM_014266 PIK3AP Q9UBK5 Q9UBS1 Q9Y3Y0 UNQ587/PRO1157 uc002ocl.1 uc002ocl.2 uc002ocl.3 This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transmembrane adapter protein which associates with NKG2D to form an activation receptor NKG2D-HCST in lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with NKG2D-DAP10 triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling pathways. Both PIK3R1 and GRB2 are required for full NKG2D-HCST-mediated activation and ultimate killing of target cells. In NK cells, NKG2D-HCST signaling directly induces cytotoxicity and enhances cytokine production initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced signals. NKG2D-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of tumors cells; indeed, melanoma cells that do not express NKG2D ligands escape from immune surveillance mediated by NK cells. Interacts with CLEC5A (By similarity). Forms an CLEC5A/TYROBP/HCST trimolecular complex depending almost solely on TYROBP (By similarity). Homodimer; Disulfide-linked. Interacts with NKG2D to form a stable complex, which results in surface expression of both proteins, whereas alone, it is minimally expressed. Interacts with PIK3R1 and GRB2. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBK5-1; Sequence=Displayed; Name=2; IsoId=Q9UBK5-2; Sequence=VSP_033022; Predominantly expressed in hemopoietic cells such as NK cells, subset of T-cells and monocytes. Detected in leukocytes, spleen, and thymus. By T-cell receptor (TCR) ligation, which leads to enhanced NKG2D-HCST cell surface expression. Down-regulated by IL21/interleukin-21 in T-cells and NK cells. Phosphorylated; PIK3R1 and GRB2 associate specifically with tyrosine-phosphorylated HCST. O-glycosylated. Silencing of HCST suppresses cytolytic activity of T-cells and NK cells. Belongs to the DAP10 family. receptor binding protein binding plasma membrane protein phosphorylation cell surface positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane phosphatidylinositol 3-kinase binding regulation of immune response  uc002ocl.1 uc002ocl.2 uc002ocl.3 
ENST00000246553.4 FFAR1 ENST00000246553.4 Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA. (from RefSeq NM_005303) ENST00000246553.1 ENST00000246553.2 ENST00000246553.3 FFAR1_HUMAN GPR40 NM_005303 O14842 Q0VAS2 Q4VBL4 uc002nzc.1 uc002nzc.2 uc002nzc.3 uc002nzc.4 This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for medium and long chain saturated and unsaturated fatty acids. Binding of the ligand increase intracellular calcium concentration and amplify glucose-stimulated insulin secretion. The activity of this receptor is mediated by G- proteins that activate phospholipase C. Seems to act through a G(q) and G(i)-mediated pathway. Cell membrane; Multi-pass membrane protein. Expressed abundantly in pancreatic beta cells. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway lipid binding membrane integral component of membrane insulin secretion positive regulation of insulin secretion glucose homeostasis bioactive lipid receptor activity positive regulation of calcium ion transport response to fatty acid  uc002nzc.1 uc002nzc.2 uc002nzc.3 uc002nzc.4 
ENST00000246635.8 KRT13 ENST00000246635.8 Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. (from RefSeq NM_153490) ENST00000246635.1 ENST00000246635.2 ENST00000246635.3 ENST00000246635.4 ENST00000246635.5 ENST00000246635.6 ENST00000246635.7 K1C13_HUMAN NM_153490 P13646 Q53G54 Q6AZK5 Q8N240 uc002hwu.1 uc002hwu.2 uc002hwu.3 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]. Heterotetramer of two type I and two type II keratins. keratin-13 is generally associated with keratin-4. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=P13646-1; Sequence=Displayed; Name=2; IsoId=P13646-2; Sequence=VSP_016376, VSP_016377; Note=No experimental confirmation available; Name=3; IsoId=P13646-3; Sequence=VSP_038433; Expressed in some epidermal sweat gland ducts (at protein level) and in exocervix, esophagus and placenta. O-glycosylated; glycans consist of single N-acetylglucosamine residues. Defects in KRT13 are a cause of white sponge nevus of cannon (WSN) [MIM:193900]. WSN is a rare autosomal dominant disorder which predominantly affects non-cornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT13"; Name=Wikipedia; Note=Keratin-13 entry; URL="http://en.wikipedia.org/wiki/Keratin_13"; structural molecule activity protein binding nucleus cytosol intermediate filament cytoskeleton organization keratinization keratin filament intermediate filament cytoskeleton extracellular exosome cornification  uc002hwu.1 uc002hwu.2 uc002hwu.3 
ENST00000246639.7 KRT35 ENST00000246639.7 Homo sapiens keratin 35 (KRT35), mRNA. (from RefSeq NM_002280) ENST00000246639.1 ENST00000246639.2 ENST00000246639.3 ENST00000246639.4 ENST00000246639.5 ENST00000246639.6 HHA5 HKA5 KRT35_HUMAN KRTHA5 NM_002280 O76012 Q92651 Q92764 uc060fbc.1 uc060fbc.2 The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## CDS exon combination :: X90763.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Early expression in the hair follicle, mainly found in supramatricial cells and lowermost cortical cells of the hair bulb. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. Sequence=CAA62286.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA76387.1; Type=Erroneous initiation; Note=Translation N-terminally extended; structural molecule activity extracellular space cytosol intermediate filament anatomical structure morphogenesis keratinization extracellular exosome cornification  uc060fbc.1 uc060fbc.2 
ENST00000246646.4 KRT38 ENST00000246646.4 Homo sapiens keratin 38 (KRT38), mRNA. (from RefSeq NM_006771) A2RRM5 ENST00000246646.1 ENST00000246646.2 ENST00000246646.3 HHA8 HKA8 KRT38_HUMAN KRTHA8 NM_006771 O76015 Q6A164 uc002hwq.1 uc002hwq.2 uc002hwq.3 The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC131715.1, AJ786656.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246646.4/ ENSP00000246646.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity protein binding cytosol intermediate filament keratinization extracellular exosome cornification  uc002hwq.1 uc002hwq.2 uc002hwq.3 
ENST00000246657.2 CCR7 ENST00000246657.2 Homo sapiens C-C motif chemokine receptor 7 (CCR7), transcript variant 1, mRNA. (from RefSeq NM_001838) CCR7_HUMAN CMKBR7 EBI1 ENST00000246657.1 EVI1 NM_001838 P32248 uc002huw.1 uc002huw.2 uc002huw.3 uc002huw.4 The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]. Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions. Cell membrane; Multi-pass membrane protein. Expressed in various lymphoid tissues and activated B- and T-lymphocytes, strongly up-regulated in B-cells infected with Epstein-Barr virus and T-cells infected with herpesvirus 6 or 7. By Epstein-Barr virus (EBV). Belongs to the G-protein coupled receptor 1 family. Name=Wikipedia; Note=CC chemokine receptors entry; URL="http://en.wikipedia.org/wiki/CC_chemokine_receptors"; establishment of T cell polarity positive regulation of cell-matrix adhesion dendritic cell chemotaxis myeloid dendritic cell chemotaxis positive regulation of dendritic cell antigen processing and presentation positive regulation of hypersensitivity positive regulation of humoral immune response G-protein coupled receptor activity chemokine receptor activity mitochondrion plasma membrane chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration external side of plasma membrane cell surface membrane integral component of membrane C-C chemokine receptor activity calcium-mediated signaling chemokine binding C-C chemokine binding positive regulation of actin filament polymerization positive regulation of pseudopodium assembly ruffle organization response to lipopolysaccharide regulation of interferon-gamma production positive regulation of interleukin-12 production response to prostaglandin E chemokine (C-C motif) ligand 19 binding chemokine (C-C motif) ligand 21 binding chemokine (C-C motif) ligand 19 signaling pathway chemokine (C-C motif) ligand 21 signaling pathway C-C motif chemokine 19 receptor activity C-C motif chemokine 21 receptor activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of phosphatidylinositol 3-kinase activity negative thymic T cell selection positive regulation of cell adhesion positive regulation of protein kinase activity positive regulation of JNK cascade homeostasis of number of cells regulation of interleukin-1 beta secretion positive regulation of T cell receptor signaling pathway release of sequestered calcium ion into cytosol positive regulation of filopodium assembly positive regulation of protein kinase B signaling cell chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to cytokine stimulus response to nitric oxide interleukin-12 secretion positive regulation of neutrophil chemotaxis activation of GTPase activity lymphocyte migration into lymph node mature conventional dendritic cell differentiation positive regulation of cell motility positive regulation of dendritic cell chemotaxis positive regulation of immunological synapse formation positive regulation of T cell costimulation positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation regulation of dendritic cell dendrite assembly negative regulation of dendritic cell apoptotic process  uc002huw.1 uc002huw.2 uc002huw.3 uc002huw.4 
ENST00000246662.9 KRT9 ENST00000246662.9 Homo sapiens keratin 9 (KRT9), mRNA. (from RefSeq NM_000226) ENST00000246662.1 ENST00000246662.2 ENST00000246662.3 ENST00000246662.4 ENST00000246662.5 ENST00000246662.6 ENST00000246662.7 ENST00000246662.8 K1C9_HUMAN NM_000226 O00109 P35527 Q0IJ47 Q14665 uc002hxe.1 uc002hxe.2 uc002hxe.3 uc002hxe.4 uc002hxe.5 uc002hxe.6 This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: S69510.1, Z29074.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147596, SAMEA2163623 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246662.9/ ENSP00000246662.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. Heterotetramer of two type I and two type II keratins. Expressed in the terminally differentiated epidermis of palms and soles. Induced by intrinsic regulatory mechanisms and by extrinsic signals from a subset of dermal palmoplantar fibroblasts. Defects in KRT9 are a cause of palmoplantar keratoderma epidermolytic (EPPK) [MIM:144200]; also abbreviated as EHPPK. EPPK is a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present with knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40- 55 and 56-70 kDa, respectively). Belongs to the intermediate filament family. Was originally (PubMed:2140676) thought to be a 60 kDa chain of placental scatter protein. Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT9"; structural molecule activity structural constituent of cytoskeleton extracellular space nucleus cytosol intermediate filament spermatogenesis epidermis development membrane keratinization skin development intermediate filament organization extracellular exosome cornification  uc002hxe.1 uc002hxe.2 uc002hxe.3 uc002hxe.4 uc002hxe.5 uc002hxe.6 
ENST00000246672.4 NR1D1 ENST00000246672.4 Homo sapiens nuclear receptor subfamily 1 group D member 1 (NR1D1), mRNA. (from RefSeq NM_021724) EAR1 ENST00000246672.1 ENST00000246672.2 ENST00000246672.3 HREV NM_021724 NR1D1_HUMAN P20393 Q0P5Z4 Q15304 THRAL uc002htz.1 uc002htz.2 uc002htz.3 uc002htz.4 uc002htz.5 This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC056148.1, M24898.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246672.4/ ENSP00000246672.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Functions as a constitutive transcriptional repressor. In collaboration with SP1, activates GJA1 transcription (By similarity). Possible receptor for triiodothyronine. Interacts with C1D and NR2E3 (By similarity). Interacts with SP1 (By similarity). Nucleus (Potential). Expressed in all tissues and cell lines examined. Expressed at high levels in some squamous carcinoma cell lines. Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. Belongs to the nuclear hormone receptor family. NR1 subfamily. Contains 1 nuclear receptor DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcription corepressor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity transcription corepressor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm glycogen biosynthetic process regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter multicellular organism development circadian rhythm transcription factor binding zinc ion binding hormone-mediated signaling pathway proteasomal protein catabolic process negative regulation of receptor biosynthetic process nuclear body regulation of lipid metabolic process heme binding cell differentiation ligand-dependent nuclear receptor transcription coactivator activity dendrite intracellular receptor signaling pathway protein destabilization circadian regulation of gene expression response to lipid negative regulation of toll-like receptor 4 signaling pathway regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter signaling receptor activity cholesterol homeostasis regulation of circadian sleep/wake cycle regulation of circadian rhythm cell projection negative regulation of I-kappaB kinase/NF-kappaB signaling dendritic spine steroid hormone mediated signaling pathway sequence-specific DNA binding transcription regulatory region DNA binding response to leptin regulation of fat cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding rhythmic process negative regulation of inflammatory response circadian temperature homeostasis regulation of insulin secretion involved in cellular response to glucose stimulus regulation of type B pancreatic cell proliferation positive regulation of bile acid biosynthetic process E-box binding cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor RNA polymerase II transcription factor complex negative regulation of microglial cell activation  uc002htz.1 uc002htz.2 uc002htz.3 uc002htz.4 uc002htz.5 
ENST00000246747.9 ARL2 ENST00000246747.9 Homo sapiens ADP ribosylation factor like GTPase 2 (ARL2), transcript variant 1, mRNA. (from RefSeq NM_001667) ENST00000246747.1 ENST00000246747.2 ENST00000246747.3 ENST00000246747.4 ENST00000246747.5 ENST00000246747.6 ENST00000246747.7 ENST00000246747.8 NM_001667 Q53YD8 Q53YD8_HUMAN hCG_23373 uc001och.1 uc001och.2 uc001och.3 uc001och.4 uc001och.5 uc001och.6 This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]. Belongs to the small GTPase superfamily. Arf family. nucleotide binding GTP binding nucleus nucleolus cytoplasm Golgi apparatus cytosol focal adhesion GDP binding  uc001och.1 uc001och.2 uc001och.3 uc001och.4 uc001och.5 uc001och.6 
ENST00000246784.8 BCL2L12 ENST00000246784.8 Homo sapiens BCL2 like 12 (BCL2L12), transcript variant 1, mRNA. (from RefSeq NM_138639) A0A087WSV0 ENST00000246784.1 ENST00000246784.2 ENST00000246784.3 ENST00000246784.4 ENST00000246784.5 ENST00000246784.6 ENST00000246784.7 NM_138639 uc061bhk.1 uc061bhk.2 This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].  uc061bhk.1 uc061bhk.2 
ENST00000246785.7 BCL2L12 ENST00000246785.7 Homo sapiens BCL2 like 12 (BCL2L12), transcript variant 6, non-coding RNA. (from RefSeq NR_104201) B2L12_HUMAN BPR ENST00000246785.1 ENST00000246785.2 ENST00000246785.3 ENST00000246785.4 ENST00000246785.5 ENST00000246785.6 NR_104201 Q3SY11 Q3SY13 Q96I96 Q9HB08 Q9HB09 uc061bhf.1 This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HB09-1; Sequence=Displayed; Name=2; IsoId=Q9HB09-2; Sequence=VSP_000522, VSP_000523; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=3; IsoId=Q9HB09-3; Sequence=VSP_043269; Note=No experimental confirmation available; Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal muscle. Belongs to the Bcl-2 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org//Genes/BCL2L12ID773ch19q13.html"; p53 binding protein binding nucleus apoptotic process membrane regulation of apoptotic process positive regulation of transcription from RNA polymerase II promoter negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator inhibition of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of cellular senescence  uc061bhf.1 
ENST00000246792.4 RRAS ENST00000246792.4 Homo sapiens RAS related (RRAS), mRNA. (from RefSeq NM_006270) ENST00000246792.1 ENST00000246792.2 ENST00000246792.3 NM_006270 P10301 Q6FH12 RRAS_HUMAN uc002pop.1 uc002pop.2 uc002pop.3 The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC016286.1, BC016318.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246792.4/ ENSP00000246792.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates the organization of the actin cytoskeleton. Interacts with PLCE1. Interacts (active GTP-bound form preferentially) with RGS14 (By similarity). P16333:NCK1; NbExp=3; IntAct=EBI-968703, EBI-389883; Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Note=Inner surface of plasma membrane possibly with attachment requiring acylation of the C-terminal cysteine (By similarity with RAS). Belongs to the small GTPase superfamily. Ras family. nucleotide binding leukocyte differentiation GTPase activity protein binding GTP binding plasma membrane focal adhesion signal transduction Ras protein signal transduction membrane GDP binding negative regulation of cell migration macromolecular complex binding positive regulation of angiogenesis regulation of protein kinase B signaling face morphogenesis extracellular exosome regulation of ERK1 and ERK2 cascade  uc002pop.1 uc002pop.2 uc002pop.3 
ENST00000246794.10 PRRG2 ENST00000246794.10 Homo sapiens proline rich and Gla domain 2 (PRRG2), transcript variant 2, mRNA. (from RefSeq NM_001316335) ENST00000246794.1 ENST00000246794.2 ENST00000246794.3 ENST00000246794.4 ENST00000246794.5 ENST00000246794.6 ENST00000246794.7 ENST00000246794.8 ENST00000246794.9 NM_001316335 O14669 PRGP2 Q6IBF8 TMG2 TMG2_HUMAN uc002pon.1 uc002pon.2 uc002pon.3 uc002pon.4 uc002pon.5 The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. Interacts with NEDD4 (By similarity). Membrane; Single-pass type I membrane protein. Highly expressed in the thyroid. Gla residues are produced after subsequent post-translational modifications of glutamate by a vitamin K-dependent gamma- carboxylase. Contains 1 Gla (gamma-carboxy-glutamate) domain. calcium ion binding protein binding extracellular region extracellular space integral component of plasma membrane membrane integral component of membrane  uc002pon.1 uc002pon.2 uc002pon.3 uc002pon.4 uc002pon.5 
ENST00000246801.8 TSKS ENST00000246801.8 Homo sapiens testis specific serine kinase substrate (TSKS), mRNA. (from RefSeq NM_021733) ENST00000246801.1 ENST00000246801.2 ENST00000246801.3 ENST00000246801.4 ENST00000246801.5 ENST00000246801.6 ENST00000246801.7 NM_021733 Q8WXJ0 Q9UJT2 STK22S1 TSKS1 TSKS_HUMAN uc002ppm.1 uc002ppm.2 uc002ppm.3 uc002ppm.4 uc002ppm.5 This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC058862.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246801.8/ ENSP00000246801.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development. Q96PF2:TSSK2; NbExp=2; IntAct=EBI-852113, EBI-852089; Cytoplasm, cytoskeleton, centrosome, centriole. Note=Concentrates in spermatid centrioles during flagellogenesis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UJT2-1; Sequence=Displayed; Name=2; IsoId=Q9UJT2-2; Sequence=VSP_009591, VSP_009592, VSP_009593; Highly expressed in testis. Expressed at low levels in prostate, female breast, placenta, ovary and thymus. Phosphorylated on serine residue(s) by STK22A/TSSK1 and STK22B/TSSK2. protein binding cytoplasm centriole cytoskeleton negative regulation of phosphatase activity protein kinase binding  uc002ppm.1 uc002ppm.2 uc002ppm.3 uc002ppm.4 uc002ppm.5 
ENST00000246802.10 NOP53 ENST00000246802.10 Homo sapiens NOP53 ribosome biogenesis factor (NOP53), mRNA. (from RefSeq NM_015710) ENST00000246802.1 ENST00000246802.2 ENST00000246802.3 ENST00000246802.4 ENST00000246802.5 ENST00000246802.6 ENST00000246802.7 ENST00000246802.8 ENST00000246802.9 GLTSCR2 GSCR2_HUMAN NM_015710 Q9BTC6 Q9HAX6 Q9NPP1 Q9NPR4 Q9NZM5 Q9UFI2 uc002phm.1 uc002phm.2 uc002phm.3 uc002phm.4 Interacts with HSV-1 early proteins ICP22 and ICP0. Nucleus, nucleolus. Expressed at high levels in heart and pancreas, moderate levels in placenta, liver, skeletal muscle, and kidney, and low levels in brain and lung. Belongs to the GLTSCR2 family. ribosomal large subunit assembly negative regulation of transcription from RNA polymerase II promoter fibrillar center regulation of protein phosphorylation p53 binding RNA binding protein binding nucleus nucleoplasm nucleolus cytosol DNA repair rRNA processing cellular response to DNA damage stimulus mitotic G2 DNA damage checkpoint 5S rRNA binding negative regulation of phosphatidylinositol 3-kinase signaling negative regulation of protein complex assembly negative regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of proteasomal ubiquitin-dependent protein catabolic process regulation of RIG-I signaling pathway ribosome biogenesis identical protein binding regulation of apoptotic process intracellular membrane-bounded organelle protein stabilization regulation of cell cycle negative regulation of protein kinase B signaling cellular response to hypoxia regulation of signal transduction by p53 class mediator negative regulation of signal transduction by p53 class mediator negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter protein localization to nucleolus positive regulation of protein K63-linked deubiquitination regulation of aerobic respiration protein localization to nucleoplasm rDNA heterochromatin  uc002phm.1 uc002phm.2 uc002phm.3 uc002phm.4 
ENST00000246841.3 FLRT1 ENST00000246841.3 Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), transcript variant 2, mRNA. (from RefSeq NM_001384466) A0A6E1VY70 ENST00000246841.1 ENST00000246841.2 NM_001384466 uc001nyi.1 uc001nyi.2 This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## CDS exon combination :: AY358308.1, BC018370.1 [ECO:0000331] ##Evidence-Data-END##  uc001nyi.1 uc001nyi.2 
ENST00000246868.7 SBDS ENST00000246868.7 Homo sapiens SBDS ribosome maturation factor (SBDS), mRNA. (from RefSeq NM_016038) A8K0P4 CGI-97 ENST00000246868.1 ENST00000246868.2 ENST00000246868.3 ENST00000246868.4 ENST00000246868.5 ENST00000246868.6 NM_016038 Q96FX0 Q9NV53 Q9Y3A5 SBDS_HUMAN uc003tvm.1 uc003tvm.2 uc003tvm.3 This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.125831.1, SRR3476690.331574.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246868.7/ ENSP00000246868.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. Associates with the 60S ribosomal subunit. Interacts with NPM1, RPA1 and PRKDC. May interact with NIP7. Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase (PubMed:19759903). Widely expressed. Defects in SBDS are the cause of Shwachman-Diamond syndrome (SDS) [MIM:260400]. SDS is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency, hematologic dysfunction, and skeletal abnormalities. Belongs to the SDO1/SBDS family. Name=SBDSbase; Note=SBDS mutation db; URL="http://bioinf.uta.fi/SBDSbase/"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SBDS"; spindle pole inner cell mass cell proliferation RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm spindle cytosol cytoskeleton rRNA processing mitotic spindle organization microtubule binding cell proliferation rRNA binding bone mineralization leukocyte chemotaxis ribosome biogenesis mature ribosome assembly ribosome binding bone marrow development  uc003tvm.1 uc003tvm.2 uc003tvm.3 
ENST00000246891.9 CSN1S1 ENST00000246891.9 Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA. (from RefSeq NM_001890) A1A510 A1A511 CASA CASA1_HUMAN CSN1 ENST00000246891.1 ENST00000246891.2 ENST00000246891.3 ENST00000246891.4 ENST00000246891.5 ENST00000246891.6 ENST00000246891.7 ENST00000246891.8 NM_001890 P47710 uc003hep.1 uc003hep.2 uc003hep.3 Important role in the capacity of milk to transport calcium phosphate. Casoxin D acts as opioid antagonist and has vasorelaxing activity mediated by bradykinin B1 receptors. Heteromultimers of alpha-s1 casein and kappa-casein; disulfide-linked. Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P47710-1; Sequence=Displayed; Name=2; IsoId=P47710-2; Sequence=VSP_000795; Name=3; IsoId=P47710-3; Sequence=VSP_000796; Mammary gland specific. Secreted in milk. Not glycosylated. In milk, the alpha s1- and beta-caseins precipitate in presence of calcium (so-called calcium-sensitive caseins). Kappa-casein prevents the precipitation of the other caseins by calcium through the formation of large stable colloidal particles termed micelles. Belongs to the alpha-casein family. Name=Protein Spotlight; Note=Of buttons, digestion and glue - Issue 16 of November 2001; URL="http://web.expasy.org/spotlight/back_issues/sptlt016.shtml"; extracellular region extracellular space response to estradiol response to progesterone transmembrane transport response to dehydroepiandrosterone response to 11-deoxycorticosterone  uc003hep.1 uc003hep.2 uc003hep.3 
ENST00000246895.9 STATH ENST00000246895.9 Homo sapiens statherin (STATH), transcript variant 1, mRNA. (from RefSeq NM_003154) B2R4F8 ENST00000246895.1 ENST00000246895.2 ENST00000246895.3 ENST00000246895.4 ENST00000246895.5 ENST00000246895.6 ENST00000246895.7 ENST00000246895.8 NM_003154 P02808 STAT_HUMAN uc003heu.1 uc003heu.2 uc003heu.3 Salivary protein that stabilizes saliva supersaturated with calcium salts by inhibiting the precipitation of calcium phosphate salts. It also modulates hydroxyapatite crystal formation on the tooth surface. Q8TAX7:MUC7; NbExp=2; IntAct=EBI-738687, EBI-738582; Secreted. Secreted by parotid and submandibular glands. Substrate for transglutaminase-2. More than 95% of the cyclized peptide is cyclo-statherin Q-37, and less than 5% is cyclo-statherin Q-39. Cyclized forms account for about 1% of total statherin in saliva. Mass=5380.0; Mass_error=0.3; Method=Electrospray; Range=20-62; Note=With phosphorylated Ser-21 and Ser-22; Source=PubMed:17313100; Mass=5363.0; Mass_error=0.3; Method=Electrospray; Range=20-62; Note=With phosphorylated Ser-21 and Ser-22 and transglutamine cross-link; Source=PubMed:17313100; Belongs to the histatin/statherin family. ossification protein binding extracellular region extracellular matrix constituent, lubricant activity structural constituent of tooth enamel regulation of bone mineralization negative regulation of bone mineralization biomineral tissue development defense response to bacterium saliva secretion hydroxyapatite binding  uc003heu.1 uc003heu.2 uc003heu.3 
ENST00000246896.8 HTN1 ENST00000246896.8 Homo sapiens histatin 1 (HTN1), transcript variant 1, mRNA. (from RefSeq NM_002159) ENST00000246896.1 ENST00000246896.2 ENST00000246896.3 ENST00000246896.4 ENST00000246896.5 ENST00000246896.6 ENST00000246896.7 HIS1 HIS1_HUMAN NM_002159 P15515 uc003hex.1 uc003hex.2 uc003hex.3 uc003hex.4 uc003hex.5 This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 2014]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP335073.2, BP334413.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246896.8/ ENSP00000246896.3 Protein has antimicrobial activity :: PMID: 2303595 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Histatins are salivary proteins that are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). In addition, histatins exhibit antibacterial and antifungal activities. Q8TAX7:MUC7; NbExp=2; IntAct=EBI-738638, EBI-738582; Secreted. Submandibular and parotid glands. Depending on the authors, the form called histatin-2 is alternatively a proteolytic product, or the non-phosphorylated form of histatin-1. Mass=4848.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=Not post-translationally modified; Source=PubMed:17503797; Mass=4928.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group; Source=PubMed:17503797; Mass=5008.6; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 1 sulfate group; Source=PubMed:17503797; Mass=5088.4; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 2 sulfate groups; Source=PubMed:17503797; Mass=5168.2; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 3 sulfate groups; Source=PubMed:17503797; Mass=5247.7; Mass_error=0.5; Method=Electrospray; Range=20-50; Note=with 1 phosphate group and 4 sulfate groups; Source=PubMed:17503797; The recommended nomenclature of salivary peptides follows published guidelines (PubMed:20973643). In agreement with the authors, it has been decided to indicate the boundaries of the peptides according to the positions within the precursor, and not in the mature protein, as has formerly been proposed. Belongs to the histatin/statherin family. protein binding extracellular region extracellular space antimicrobial humoral response biomineral tissue development killing of cells of other organism defense response to bacterium defense response to fungus  uc003hex.1 uc003hex.2 uc003hex.3 uc003hex.4 uc003hex.5 
ENST00000246911.6 IFI35 ENST00000246911.6 interferon induced protein 35 (from HGNC IFI35) BC001356 ENST00000246911.1 ENST00000246911.2 ENST00000246911.3 ENST00000246911.4 ENST00000246911.5 uc060fqv.1  uc060fqv.1 
ENST00000246912.8 MLX ENST00000246912.8 Homo sapiens MAX dimerization protein MLX (MLX), transcript variant 3, mRNA. (from RefSeq NM_170607) A8K2J3 B2RAV8 B2RD73 BHLHD13 ENST00000246912.1 ENST00000246912.2 ENST00000246912.3 ENST00000246912.4 ENST00000246912.5 ENST00000246912.6 ENST00000246912.7 MLX_HUMAN NM_170607 Q53XM6 Q96FL2 Q9H2V0 Q9H2V1 Q9H2V2 Q9NXN3 Q9UH92 TCFL4 uc002iag.1 uc002iag.2 uc002iag.3 uc002iag.4 The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF213668.1, SRR1803614.144693.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## Transcription regulator. Forms a sequence-specific DNA- binding protein complex with MAD1, MAD4, MNT, WBSCR14 and MLXIP which recognizes the core sequence 5'-CACGTG-3'. The TCFL4-MAD1, TCFL4-MAD4, TCFL4-WBSCR14 complexes are transcriptional repressors. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAD1, MAD4, MNT, WBSCR14 and MLXIP. Can also bind DNA as a homodimer. Isoform Alpha: Cytoplasm. Note=Found predominantly in the cytoplasm. Isoform Beta: Cytoplasm. Note=Found predominantly in the cytoplasm. Isoform Gamma: Nucleus. Note=Found predominantly in the nucleus. Event=Alternative splicing; Named isoforms=3; Name=Gamma; IsoId=Q9UH92-1; Sequence=Displayed; Name=Alpha; IsoId=Q9UH92-2; Sequence=VSP_002137, VSP_002138; Name=Beta; IsoId=Q9UH92-3; Sequence=VSP_002137; Expressed in all tissues tested, including spleen, thymus, prostate, ovary, intestine, colon, peripheral blood leukocyte, heart, liver, skeletal muscle and kidney. Lower levels of expression in testis, brain, placenta and lung. Contains 1 bHLH (basic helix-loop-helix) domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription factor binding nuclear membrane protein homodimerization activity negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity  uc002iag.1 uc002iag.2 uc002iag.3 uc002iag.4 
ENST00000246914.10 WNK4 ENST00000246914.10 Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), transcript variant 1, mRNA. (from RefSeq NM_032387) ENST00000246914.1 ENST00000246914.2 ENST00000246914.3 ENST00000246914.4 ENST00000246914.5 ENST00000246914.6 ENST00000246914.7 ENST00000246914.8 ENST00000246914.9 NM_032387 PRKWNK4 Q8N8X3 Q8N8Z2 Q96DT8 Q96J92 Q9BYS5 WNK4_HUMAN uc002ibj.1 uc002ibj.2 uc002ibj.3 uc002ibj.4 uc002ibj.5 This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC136664.1, AJ316534.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000246914.10/ ENSP00000246914.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SCNN1A, SCNN1B, SCNN1D, SGK1, TRPV5 and TRPV6. Regulates the activity of the thiazide-sensitive Na-Cl cotransporter, SLC12A3, by phosphorylation which appears to prevent membrane trafficking of SLC12A3. Also inhibits the renal K(+) channel, KCNJ1, via a kinase-independent mechanism by which it induces clearance of the protein from the cell surface by clathrin-dependent endocytosis. WNK4 appears to act as a molecular switch that can vary the balance between NaCl reabsorption and K(+) secretion to maintain integrated homeostasis. Phosphorylates NEDD4L. ATP + a protein = ADP + a phosphoprotein. Magnesium (By similarity). Activation requires autophosphorylation of Ser- 335. Phosphorylation of Ser-331 also promotes increased activity (By similarity). Interacts with the C-terminal region of KCNJ1 (By similarity). Interacts with WNK1 and WNK3 (By similarity). Cell junction, tight junction (By similarity). Note=Present exclusively in intercellular junctions in the distal convoluted tubule and in both the cytoplasm and intercellular junctions in the cortical collecting duct. WNK4 is part of the tight junction complex (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96J92-1; Sequence=Displayed; Name=2; IsoId=Q96J92-2; Sequence=VSP_050648, VSP_050649, VSP_050650, VSP_050651; Note=No experimental confirmation available; Name=3; IsoId=Q96J92-3; Sequence=VSP_050652, VSP_050653; Note=No experimental confirmation available. Incomplete sequence; Expressed in kidney, colon and skin. Phosphorylated by WNK1 and WNK3 (By similarity). Defects in WNK4 are a cause of pseudohypoaldosteronism type 2B (PHA2B) [MIM:614491]. PHAII is an autosomal dominant disease characterized by severe hypertension, hyperkalemia, and sensitivity to thiazide diuretics which may result from a chloride shunt in the renal distal nephron. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. WNK subfamily. Contains 1 protein kinase domain. Cys-203 is present instead of the conserved Lys which is expected to be an active site residue. Lys-186 appears to fulfill the required catalytic function. Sequence=BAC04669.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC48387.1; Type=Frameshift; Positions=4; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WNK4"; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm cytosol bicellular tight junction protein phosphorylation ion transport chloride transport protein localization negative regulation of sodium ion transport membrane kinase activity phosphorylation transferase activity chloride channel inhibitor activity potassium channel inhibitor activity cell junction positive regulation of ion transmembrane transporter activity intracellular signal transduction regulation of cellular process ion homeostasis renal sodium ion absorption distal tubule morphogenesis negative regulation of pancreatic juice secretion positive regulation of potassium ion import positive regulation of sodium ion transmembrane transporter activity  uc002ibj.1 uc002ibj.2 uc002ibj.3 uc002ibj.4 uc002ibj.5 
ENST00000246949.10 DNASE1 ENST00000246949.10 Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity). (from UniProt P24855) DNAS1_HUMAN DNL1 DRNI ENST00000246949.1 ENST00000246949.2 ENST00000246949.3 ENST00000246949.4 ENST00000246949.5 ENST00000246949.6 ENST00000246949.7 ENST00000246949.8 ENST00000246949.9 NR_170562 P24855 Q14UU9 Q14UV0 uc002cvr.1 uc002cvr.2 uc002cvr.3 uc002cvr.4 uc002cvr.5 Among other functions, seems to be involved in cell death by apoptosis. Binds specifically to G-actin and blocks actin polymerization (By similarity). Endonucleolytic cleavage to 5'- phosphodinucleotide and 5'-phosphooligonucleotide end-products. Divalent cations. Prefers calcium or magnesium. Secreted. Nucleus envelope. Note=Secretory protein, stored in zymogen granules and found in the nuclear envelope. Principally in tissues of the digestive system. Highest levels found in urine, but also relatively abundant in semen and saliva. At least 6 alleles of DNASE1 are known: DNASE1*1 to DNASE1*6. The sequence shown is that of DNASE1*2. Defects in DNASE1 are a cause of susceptibility to systemic lupus erythematosus (SLE) [MIM:152700]. A chronic, inflammatory and often febrile multisystemic disorder of connective tissue. It affects principally the skin, joints, kidneys and serosal membranes. It is thought to represent a failure of the regulatory mechanisms of the autoimmune system. Available under the name Pulmozyme (Genentech). Used to reduce the viscosity of cystic fibrosis sputum by hydrolyzing the extracellular DNA released by degenerating leukocytes that accumulate in response to infection. Belongs to the DNase I family. Name=Pulmozyme; Note=Clinical information on Pulmozyme; URL="http://www.pulmozyme.com/index.jsp"; Name=Wikipedia; Note=Deoxyribonuclease entry; URL="http://en.wikipedia.org/wiki/Deoxyribonuclease"; DNA catabolic process, endonucleolytic neutrophil activation involved in immune response regulation of acute inflammatory response DNA binding actin binding nuclease activity endonuclease activity deoxyribonuclease I activity deoxyribonuclease activity protein binding extracellular region nucleus nuclear envelope DNA catabolic process apoptotic process hydrolase activity extracellular exosome regulation of neutrophil mediated cytotoxicity  uc002cvr.1 uc002cvr.2 uc002cvr.3 uc002cvr.4 uc002cvr.5 
ENST00000246957.10 TRAP1 ENST00000246957.10 Homo sapiens TNF receptor associated protein 1 (TRAP1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_016292) D3DUC8 ENST00000246957.1 ENST00000246957.2 ENST00000246957.3 ENST00000246957.4 ENST00000246957.5 ENST00000246957.6 ENST00000246957.7 ENST00000246957.8 ENST00000246957.9 HSP75 NM_016292 O43642 O75235 Q12931 Q9UHL5 TRAP1_HUMAN uc002cvt.1 uc002cvt.2 uc002cvt.3 uc002cvt.4 uc002cvt.5 This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]. Chaperone that expresses an ATPase activity. Binds to the intracellular domain of tumor necrosis factor type 1 receptor. Binds to RB1. Mitochondrion. Found in skeletal muscle, liver, heart, brain, kidney, pancreas, lung and placenta. Belongs to the heat shock protein 90 family. Sequence=AAA87704.1; Type=Frameshift; Positions=656; nucleotide binding RNA binding tumor necrosis factor receptor binding protein binding ATP binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial intermembrane space mitochondrial matrix protein folding translational attenuation membrane protein kinase binding unfolded protein binding chaperone-mediated protein folding negative regulation of cellular respiration negative regulation of reactive oxygen species biosynthetic process negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide  uc002cvt.1 uc002cvt.2 uc002cvt.3 uc002cvt.4 uc002cvt.5 
ENST00000247001.10 SUGP1 ENST00000247001.10 Homo sapiens SURP and G-patch domain containing 1 (SUGP1), mRNA. (from RefSeq NM_172231) ENST00000247001.1 ENST00000247001.2 ENST00000247001.3 ENST00000247001.4 ENST00000247001.5 ENST00000247001.6 ENST00000247001.7 ENST00000247001.8 ENST00000247001.9 NM_172231 O60378 Q6P3X9 Q8IWZ8 Q8TCQ4 Q8WWT4 Q8WWT5 Q9NTG3 SF4 SUGP1_HUMAN uc002nmh.1 uc002nmh.2 uc002nmh.3 uc002nmh.4 uc002nmh.5 SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC142988.1, SRR1803612.120588.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247001.10/ ENSP00000247001.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays a role in pre-mRNA splicing. Component of the spliceosome. Nucleus (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=RNA-binding protein splice variant A; IsoId=Q8IWZ8-1; Sequence=Displayed; Name=2; Synonyms=RNA-binding protein splice variant B; IsoId=Q8IWZ8-2; Sequence=VSP_013109, VSP_013110; Detected in adult testis and heart, and in adult and fetal brain, kidney and skeletal muscle. Contains 1 G-patch domain. Contains 2 SURP motif repeats. Sequence=AAC08052.1; Type=Erroneous gene model prediction; Sequence=AAL68960.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAL68961.1; Type=Erroneous initiation; Note=Translation N-terminally extended; mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex RNA processing mRNA processing RNA splicing  uc002nmh.1 uc002nmh.2 uc002nmh.3 uc002nmh.4 uc002nmh.5 
ENST00000247003.9 DDX49 ENST00000247003.9 Homo sapiens DEAD-box helicase 49 (DDX49), transcript variant 1, mRNA. (from RefSeq NM_019070) DDX49_HUMAN ENST00000247003.1 ENST00000247003.2 ENST00000247003.3 ENST00000247003.4 ENST00000247003.5 ENST00000247003.6 ENST00000247003.7 ENST00000247003.8 NM_019070 Q53FJ1 Q9Y6V7 uc002nkq.1 uc002nkq.2 uc002nkq.3 uc002nkq.4 ATP + H(2)O = ADP + phosphate. Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus nucleoplasm rRNA processing hydrolase activity  uc002nkq.1 uc002nkq.2 uc002nkq.3 uc002nkq.4 
ENST00000247005.8 GDF1 ENST00000247005.8 Homo sapiens growth differentiation factor 1 (GDF1), mRNA. (from RefSeq NM_001492) ENST00000247005.1 ENST00000247005.2 ENST00000247005.3 ENST00000247005.4 ENST00000247005.5 ENST00000247005.6 ENST00000247005.7 GDF1_HUMAN NM_001492 O43344 P27539 uc060vuk.1 uc060vuk.2 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: CX871104.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## bicistronic transcript :: PMID: 2034669 MANE Ensembl match :: ENST00000247005.8/ ENSP00000247005.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May mediate cell differentiation events during embryonic development. Homodimer; disulfide-linked (By similarity). Secreted. Expressed in the brain. Defects in GDF1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Defects in GDF1 are the cause of transposition of the great arteries dextro-looped type 3 (DTGA3) [MIM:613854]. A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. Defects in GDF1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. This protein is produced by a bicistronic gene which also produces the LASS1 protein from a non-overlapping reading frame. Belongs to the TGF-beta family. cytokine activity transforming growth factor beta receptor binding extracellular region extracellular space growth factor activity positive regulation of pathway-restricted SMAD protein phosphorylation BMP signaling pathway regulation of apoptotic process regulation of MAPK cascade cell development SMAD protein signal transduction  uc060vuk.1 uc060vuk.2 
ENST00000247020.9 SDF2 ENST00000247020.9 Homo sapiens stromal cell derived factor 2 (SDF2), transcript variant 1, mRNA. (from RefSeq NM_006923) ENST00000247020.1 ENST00000247020.2 ENST00000247020.3 ENST00000247020.4 ENST00000247020.5 ENST00000247020.6 ENST00000247020.7 ENST00000247020.8 NM_006923 Q99470 Q9BQ79 SDF2_HUMAN uc002hbw.1 uc002hbw.2 uc002hbw.3 uc002hbw.4 uc002hbw.5 The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]. Secreted (Probable). Contains 3 MIR domains. dolichyl-phosphate-mannose-protein mannosyltransferase activity extracellular region extracellular space protein glycosylation membrane protein O-linked mannosylation  uc002hbw.1 uc002hbw.2 uc002hbw.3 uc002hbw.4 uc002hbw.5 
ENST00000247026.10 NSRP1 ENST00000247026.10 Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA. (from RefSeq NM_032141) CCDC55 ENST00000247026.1 ENST00000247026.2 ENST00000247026.3 ENST00000247026.4 ENST00000247026.5 ENST00000247026.6 ENST00000247026.7 ENST00000247026.8 ENST00000247026.9 NM_032141 NSRP1_HUMAN NSRP70 Q6FI71 Q9H0G5 uc002heu.1 uc002heu.2 uc002heu.3 uc002heu.4 uc002heu.5 uc002heu.6 RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Interacts (via C-terminus) with SRSF1. Interacts (via C- terminus) with SRSF2. Nucleus. Nucleus speckle. Note=Colocalizes with splicing factors SRSF1 and SRSF2 in speckles. Expressed in dendritic cells, T-cells, B-cells and natural killer cells. Expressed in secondary lymphoid organs such as spleen and mesenteric, axillary and brachial lymph nodes. Up-regulated in motile T-cells. Belongs to the NSRP1 family. regulation of alternative mRNA splicing, via spliceosome RNA binding mRNA binding protein binding nucleus nucleoplasm mRNA processing RNA splicing nuclear speck developmental process ribonucleoprotein complex  uc002heu.1 uc002heu.2 uc002heu.3 uc002heu.4 uc002heu.5 uc002heu.6 
ENST00000247087.10 AHDC1 ENST00000247087.10 Phosphorylated upon DNA damage, probably by ATM or ATR. (from UniProt Q5TGY3) AHDC1_HUMAN AK125431 ENST00000247087.1 ENST00000247087.2 ENST00000247087.3 ENST00000247087.4 ENST00000247087.5 ENST00000247087.6 ENST00000247087.7 ENST00000247087.8 ENST00000247087.9 Q5TGY3 Q5TGY4 Q6PJK1 Q6ZUQ6 Q99769 Q9NUF5 uc057dvu.1 uc057dvu.2 Phosphorylated upon DNA damage, probably by ATM or ATR. Contains 2 A.T hook DNA-binding domains. Sequence=AAB50205.1; Type=Frameshift; Positions=1331; Sequence=BAC86163.1; Type=Erroneous initiation; Sequence=CAI19618.1; Type=Erroneous gene model prediction; DNA binding  uc057dvu.1 uc057dvu.2 
ENST00000247138.11 SLC35A2 ENST00000247138.11 Homo sapiens solute carrier family 35 member A2 (SLC35A2), transcript variant 1, mRNA. (from RefSeq NM_005660) A8K2L9 A8K9V1 ENST00000247138.1 ENST00000247138.10 ENST00000247138.2 ENST00000247138.3 ENST00000247138.4 ENST00000247138.5 ENST00000247138.6 ENST00000247138.7 ENST00000247138.8 ENST00000247138.9 NM_005660 P78381 Q8IV21 Q92553 S35A2_HUMAN UGALT UGT UGTL uc004dlo.1 uc004dlo.2 uc004dlo.3 uc004dlo.4 uc004dlo.5 This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function. Golgi apparatus membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=UGT2; IsoId=P78381-1; Sequence=Displayed; Name=UGT1; IsoId=P78381-2; Sequence=VSP_003728; Name=3; IsoId=P78381-3; Sequence=VSP_042029; Belongs to the nucleotide-sugar transporter family. SLC35A subfamily. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Golgi membrane UDP-galactose transmembrane transporter activity protein binding nucleus endoplasmic reticulum Golgi apparatus galactose metabolic process carbohydrate transport pyrimidine nucleotide-sugar transmembrane transporter activity membrane integral component of membrane integral component of Golgi membrane UDP-galactose transmembrane transport pyrimidine nucleotide-sugar transmembrane transport  uc004dlo.1 uc004dlo.2 uc004dlo.3 uc004dlo.4 uc004dlo.5 
ENST00000247140.8 PQBP1 ENST00000247140.8 May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. (from UniProt O60828) AB016533 ENST00000247140.1 ENST00000247140.2 ENST00000247140.3 ENST00000247140.4 ENST00000247140.5 ENST00000247140.6 ENST00000247140.7 JM26 NPW38 O60828 PQBP1_HUMAN Q4VY25 Q4VY26 Q4VY27 Q4VY29 Q4VY30 Q4VY34 Q4VY35 Q4VY36 Q4VY37 Q4VY38 Q9GZP2 Q9GZU4 Q9GZZ4 uc064zbu.1 May suppress the ability of POU3F2 to transactivate the DRD1 gene in a POU3F2 dependent manner. Can activate transcription directly or via association with the transcription machinery. May be involved in ATXN1 mutant-induced cell death. The interaction with ATXN1 mutant reduces levels of phosphorylated RNA polymerase II large subunit. Interacts with POU3F2/Brn-2, ATXN1, TXNL4A, HTT and AR. Interaction with ATXN1 correlates positively with the length of the polyglutamine tract. Interacts with RNA polymerase II large subunit in a phosphorylation-dependent manner. Forms a ternary complex with ATXN1 mutant and phosphorylated RNA polymerase II. Nucleus. Note=Co-localized with POU3F2. Co- localized with ATXN1 in nuclear inclusion bodies. Event=Alternative splicing; Named isoforms=10; Name=1; Synonyms=PQBP-1; IsoId=O60828-1; Sequence=Displayed; Name=2; IsoId=O60828-2; Sequence=VSP_015909; Name=3; Synonyms=PQBP-1b/c; IsoId=O60828-3; Sequence=VSP_015908, VSP_015910; Name=4; Synonyms=PQBP-1d; IsoId=O60828-4; Sequence=VSP_015903; Name=5; IsoId=O60828-5; Sequence=VSP_015900; Name=6; IsoId=O60828-6; Sequence=VSP_015906, VSP_015907; Name=7; IsoId=O60828-7; Sequence=VSP_015904, VSP_015905; Name=8; Synonyms=PQBP-1a; IsoId=O60828-8; Sequence=VSP_015896, VSP_015902; Name=9; IsoId=O60828-9; Sequence=VSP_015899, VSP_015901; Name=10; IsoId=O60828-10; Sequence=VSP_015897, VSP_015898; Widely expressed with high level in heart, skeletal muscle, pancreas, spleen, thymus, prostate, ovary, small intestine and peripheral blood leukocytes. The WW domain may play a role as a transcriptional activator directly or via association with the transcription machinery. The WW domain mediates interaction with C-terminal domain of RNA polymerase II large subunit. Defects in PQBP1 are the cause of Renpenning syndrome 1 (RENS1) [MIM:309500]; also known as Sutherland-Haan X-linked mental retardation syndrome (SHS) or X-linked mental retardation syndromes MRXS3/MRXS8/MRX55. The clinical features are mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. RENS1 is more frequently in males than in females where little or no expression is found. Contains 1 WW domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PQBP1"; alternative mRNA splicing, via spliceosome mRNA splicing, via spliceosome activation of innate immune response positive regulation of defense response to virus by host immune system process DNA binding double-stranded DNA binding transcription coactivator activity protein binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated mRNA processing RNA splicing nuclear speck neuron projection development positive regulation of type I interferon production ribonucleoprotein complex binding regulation of RNA splicing innate immune response defense response to virus cellular response to exogenous dsRNA positive regulation of nucleic acid-templated transcription  uc064zbu.1 
ENST00000247153.7 CFP ENST00000247153.7 Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA. (from RefSeq NM_002621) ENST00000247153.1 ENST00000247153.2 ENST00000247153.3 ENST00000247153.4 ENST00000247153.5 ENST00000247153.6 NM_002621 O15134 O15135 O15136 O75826 P27918 PFC PROP_HUMAN uc004dih.1 uc004dih.2 uc004dih.3 uc004dih.4 This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]. A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes. Secreted. Defects in CFP are the cause of properdin deficiency (PFD) [MIM:312060]. PFD results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). Contains 6 TSP type-1 domains. Sequence=CAA15658.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFP"; Name=CFPbase; Note=CFP mutation db; URL="http://bioinf.uta.fi/CFPbase/"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pfc/"; Name=Wikipedia; Note=Properdin entry; URL="http://en.wikipedia.org/wiki/Properdin"; immune system process protein binding extracellular region extracellular space endoplasmic reticulum lumen immune response complement activation complement activation, alternative pathway secretory granule regulation of complement activation specific granule lumen defense response to bacterium neutrophil degranulation innate immune response tertiary granule lumen  uc004dih.1 uc004dih.2 uc004dih.3 uc004dih.4 
ENST00000247161.7 ELK1 ENST00000247161.7 Homo sapiens ETS transcription factor ELK1 (ELK1), transcript variant 2, mRNA. (from RefSeq NM_005229) B2R7H4 ELK1_HUMAN ENST00000247161.1 ENST00000247161.2 ENST00000247161.3 ENST00000247161.4 ENST00000247161.5 ENST00000247161.6 NM_005229 O75606 O95058 P19419 Q969X8 Q9UJM4 uc010nhv.1 uc010nhv.2 uc010nhv.3 uc010nhv.4 uc010nhv.5 This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene produces multiple isoforms by using alternative translational start codons and by alternative splicing. Related pseudogenes have been identified on chromosomes 7 and 14. [provided by RefSeq, Mar 2012]. Stimulates transcription. Binds to purine-rich DNA sequences. Can form a ternary complex with the serum response factor and the ETS and SRF motifs of the fos serum response element. Interacts in its sumoylated form with PIAS2/PIASX which enhances its transcriptional activator activity. Interacts with MAD2L2; the interaction is direct and promotes phosphorylation by the kinases MAPK8 and/or MAPK9. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P19419-1; Sequence=Displayed; Name=2; Synonyms=ELKV; IsoId=P19419-2; Sequence=VSP_001466, VSP_001467; Lung and testis. Sumoylation represses transcriptional activator activity as it results in recruitment of HDAC2 to target gene promoters which leads to decreased histone acetylation and reduced transactivator activity. It also regulates nuclear retention. On mitogenic stimulation, phosphorylated on C-terminal serine and threonine residues by MAPK1. Ser-383 and Ser-389 are the preferred sites for MAPK1. In vitro, phosphorylation by MAPK1 potentiates ternary complex formation with the serum responses factors, SRE and SRF. Also phosphorylated on Ser-383 by MAPK8 and/or MAKP9. Phosphorylation leads to loss of sumoylation and restores transcriptional activator activity. Phosphorylated and activated by CAMK4, MAPK11, MAPK12 and MAPK14. Belongs to the ETS family. Contains 1 ETS DNA-binding domain. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm mitochondrion regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter response to light stimulus cell differentiation dendrite neuronal cell body sequence-specific DNA binding axon terminus positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter cellular response to testosterone stimulus cellular response to lipid cellular response to gamma radiation response to fibroblast growth factor positive regulation of neuron death  uc010nhv.1 uc010nhv.2 uc010nhv.3 uc010nhv.4 uc010nhv.5 
ENST00000247178.6 ATG14 ENST00000247178.6 Homo sapiens autophagy related 14 (ATG14), mRNA. (from RefSeq NM_014924) A6NJE4 A8K9U5 B7ZWP5 BAKOR_HUMAN ENST00000247178.1 ENST00000247178.2 ENST00000247178.3 ENST00000247178.4 ENST00000247178.5 KIAA0831 NM_014924 O94920 Q32MK7 Q32MK8 Q6ZNE5 uc001xbx.1 uc001xbx.2 uc001xbx.3 uc001xbx.4 Required for both basal and inducible autophagy. Plays a role in autophagosome formation and MAP1LC3/LC3 conjugation to phosphatidylethanolamine. Promotes BECN1 translocation from the trans-Golgi network to autophagosomes. Enhances PIK3C3 activity in a BECN1-dependent manner (By similarity). Forms a complex with BECN1, PIK3C3 and PIK3R4, but not with UVRAG, nor with KIAA0226/Rubicon. UVRAG and ATG14/Barkor form mutually exclusive complexes with BECN1 through direct competition. The complex containing ATG14 up-regulates autophagy, while the one containing Rubicon down-regulates autophagy (By similarity). Interacts with PIK3CB (By similarity). Cytoplasm. Endoplasmic reticulum. Note=Cytosolic under nutrient-rich conditions. Following autophagy stimuli, such as starvation or rapamycin induction, predominantly detected in cytoplasmic foci, identified as isolation membranes and autophagosomes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6ZNE5-1; Sequence=Displayed; Name=2; IsoId=Q6ZNE5-2; Sequence=VSP_013931; The coiled-coil domain is required for BECN1- and PIK3C3- binding and for autophagy. Belongs to the Barkor family. Sequence=BAA74854.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; autophagosome assembly autophagosome membrane macromitophagy regulation of protein phosphorylation negative regulation of protein phosphorylation positive regulation of protein phosphorylation protein binding cytoplasm autophagosome endoplasmic reticulum endoplasmic reticulum membrane cytosol axoneme autophagy endosome to lysosome transport cellular response to starvation posttranscriptional regulation of gene expression membrane macroautophagy autophagosome docking cytoplasmic vesicle pre-autophagosomal structure membrane phosphatidylinositol 3-kinase complex, class III cellular response to glucose starvation positive regulation of phosphatidylinositol 3-kinase activity ER-mitochondrion membrane contact site phagocytic vesicle GTPase binding regulation of protein complex stability regulation of triglyceride metabolic process extrinsic component of omegasome membrane extrinsic component of pre-autophagosomal structure membrane response to mitochondrial depolarisation  uc001xbx.1 uc001xbx.2 uc001xbx.3 uc001xbx.4 
ENST00000247191.7 DLGAP5 ENST00000247191.7 Homo sapiens DLG associated protein 5 (DLGAP5), transcript variant 1, mRNA. (from RefSeq NM_014750) DLG7 DLGP5_HUMAN ENST00000247191.1 ENST00000247191.2 ENST00000247191.3 ENST00000247191.4 ENST00000247191.5 ENST00000247191.6 KIAA0008 NM_014750 Q15398 Q8NG58 uc001xbs.1 uc001xbs.2 uc001xbs.3 uc001xbs.4 uc001xbs.5 Potential cell cycle regulator that may play a role in carcinogenesis of cancer cells. Mitotic phosphoprotein regulated by the ubiquitin-proteasome pathway. Key regulator of adherens junction integrity and differentiation that may be involved in CDH1-mediated adhesion and signaling in epithelial cells. Interacts with CDK1. Interacts with the C-terminal proline-rich region of FBXO7. Recruited by FBXO7 to a SCF (SKP1- CUL1-F-box) protein complex in a CDK1/Cyclin B-phosphorylation dependent manner. Interacts with CDH1. Nucleus. Cytoplasm. Cytoplasm, cytoskeleton, spindle. Note=Localizes to the spindle in mitotic cells. Colocalizes with CDH1 at sites of cell-cell contact in intestinal epithelial cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15398-2; Sequence=Displayed; Name=2; IsoId=Q15398-1; Sequence=VSP_015550; Note=No experimental confirmation available; Abundantly expressed in fetal liver. Expressed at lower levels in bone marrow, testis, colon, and placenta. Elevated levels of expression detected in the G2/M phase of synchronized cultures of HeLa cells. Ubiquitinated, leading to its degradation. Phosphorylated upon DNA damage, probably by ATM or ATR. Decreased phosphorylation levels are associated with the differentiation of intestinal epithelial cells. Belongs to the SAPAP family. It was localized to the spindle and the spindle pole (PubMed:12527899) but was later found to be localized to the spindle and to be excluded from the spindle pole (PubMed:15561729). Sequence=BAA02797.3; Type=Erroneous initiation; Note=Translation N-terminally shortened; phosphoprotein phosphatase activity protein binding nucleus cytoplasm mitochondrion microtubule organizing center spindle cytosol cytoskeleton protein dephosphorylation cell cycle mitotic chromosome movement towards spindle pole positive regulation of transcription of Notch receptor target cell proliferation signaling spindle pole centrosome positive regulation of mitotic metaphase/anaphase transition  uc001xbs.1 uc001xbs.2 uc001xbs.3 uc001xbs.4 uc001xbs.5 
ENST00000247194.9 L3HYPDH ENST00000247194.9 Homo sapiens trans-L-3-hydroxyproline dehydratase (L3HYPDH), transcript variant 8, non-coding RNA. (from RefSeq NR_138575) C14orf149 ENST00000247194.1 ENST00000247194.2 ENST00000247194.3 ENST00000247194.4 ENST00000247194.5 ENST00000247194.6 ENST00000247194.7 ENST00000247194.8 NR_138575 Q96EM0 Q96LJ5 T3HPD_HUMAN uc001xee.1 uc001xee.2 uc001xee.3 The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]. Catalyzes the dehydration of trans-3-hydroxy-L-proline to delta-1-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it. Trans-3-hydroxy-L-proline = 1-pyrroline 2- carboxylate + H(2)O. Kinetic parameters: KM=7.23 mM for trans-3-hydroxy-L-proline; Vmax=39.5 umol/min/mg enzyme; pH dependence: Optimum pH is 8.0; Homodimer (By similarity). Ubiquitously expressed. In contrast to the T.cruzi proline racemase enzyme, lacks the conserved Cys at position 273 which is replaced by a Thr residue, transforming the racemase activity into dehydratase activity (PubMed:22528483). Belongs to the proline racemase family. lyase activity hydro-lyase activity trans-L-3-hydroxyproline dehydratase activity proline racemase activity  uc001xee.1 uc001xee.2 uc001xee.3 
ENST00000247207.7 HSPA2 ENST00000247207.7 Homo sapiens heat shock protein family A (Hsp70) member 2 (HSPA2), mRNA. (from RefSeq NM_021979) ENST00000247207.1 ENST00000247207.2 ENST00000247207.3 ENST00000247207.4 ENST00000247207.5 ENST00000247207.6 HSP72_HUMAN NM_021979 P54652 Q15508 Q53XM3 Q9UE78 uc001xhk.1 uc001xhk.2 uc001xhk.3 uc001xhk.4 uc001xhk.5 uc001xhk.6 In cooperation with other chaperones, Hsp70s stabilize preexistent proteins against aggregation and mediate the folding of newly translated polypeptides in the cytosol as well as within organelles. These chaperones participate in all these processes through their ability to recognize nonnative conformations of other proteins. They bind extended peptide segments with a net hydrophobic character exposed by polypeptides during translation and membrane translocation, or following stress-induced damage. Interacts with ZNF541. Component of the CatSper complex (By similarity). Q9NZL4:HSPBP1; NbExp=3; IntAct=EBI-356991, EBI-356763; Belongs to the heat shock protein 70 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hspa2/"; nucleotide binding synaptonemal complex male germ cell nucleus positive regulation of protein phosphorylation protein binding ATP binding nucleus cytoplasm spindle cytosol cytoskeleton plasma membrane response to unfolded protein male meiosis male meiosis I spermatogenesis spermatid development response to heat response to cold cell surface positive regulation of G2/M transition of mitotic cell cycle membrane vesicle-mediated transport ATPase activity enzyme binding cell differentiation heat shock protein binding positive regulation of ATPase activity cellular response to heat cellular response to unfolded protein CatSper complex protein refolding ATPase activity, coupled protein binding involved in protein folding tau protein binding unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding misfolded protein binding glycolipid binding extracellular exosome synaptonemal complex disassembly blood microparticle meiotic spindle negative regulation of inclusion body assembly disordered domain specific binding positive regulation of calcium-transporting ATPase activity  uc001xhk.1 uc001xhk.2 uc001xhk.3 uc001xhk.4 uc001xhk.5 uc001xhk.6 
ENST00000247219.6 TBPL2 ENST00000247219.6 Homo sapiens TATA-box binding protein like 2 (TBPL2), mRNA. (from RefSeq NM_199047) ENST00000247219.1 ENST00000247219.2 ENST00000247219.3 ENST00000247219.4 ENST00000247219.5 NM_199047 Q17RU8 Q6SJ96 TBP2 TBPL2_HUMAN TRF3 uc001xby.1 uc001xby.2 uc001xby.3 uc001xby.4 uc001xby.5 uc001xby.6 Transcription factor required in complex with TAF3 for the differentiation of myoblasts into myocytes. The complex replaces TFIID at specific promoters at an early stage in the differentiation process (By similarity). Interacts with TAF3 (By similarity). Cytoplasm. Nucleus. Note=Present in the cytoplasm during cytokenesis. Ubiquitously expressed in all tissues examined with highest levels in heart, lung, ovary, spleen and testes. Belongs to the TBP family. transcription factor TFIIIB complex RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase III regulatory region DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription factor complex transcription factor TFIID complex cytoplasm DNA-templated transcription, initiation transcription from RNA polymerase II promoter multicellular organism development transcription factor binding negative regulation of transcription, DNA-templated RNA polymerase III transcriptional preinitiation complex assembly  uc001xby.1 uc001xby.2 uc001xby.3 uc001xby.4 uc001xby.5 uc001xby.6 
ENST00000247225.7 SGPP1 ENST00000247225.7 Homo sapiens sphingosine-1-phosphate phosphatase 1 (SGPP1), mRNA. (from RefSeq NM_030791) B2RAH0 ENST00000247225.1 ENST00000247225.2 ENST00000247225.3 ENST00000247225.4 ENST00000247225.5 ENST00000247225.6 NM_030791 Q9BX95 Q9H189 SGPP1_HUMAN uc001xgj.1 uc001xgj.2 uc001xgj.3 uc001xgj.4 uc001xgj.5 uc001xgj.6 Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC070060.1, SRR1660809.241567.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA2149876 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247225.7/ ENSP00000247225.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Has enzymatic activity against both sphingosine 1- phosphate (S1P) and dihydro-S1P. Regulates intracellular and extracellular S1P levels. Endoplasmic reticulum membrane; Multi-pass membrane protein. Ubiquitous, with the strongest level in placenta and kidney. Belongs to the type 2 lipid phosphate phosphatase family. nucleus nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane plasma membrane sphingolipid metabolic process sphinganine-1-phosphate metabolic process sphingosine metabolic process membrane integral component of membrane dephosphorylation hydrolase activity sphingolipid biosynthetic process ER to Golgi ceramide transport sphingosine-1-phosphate phosphatase activity regulation of keratinocyte differentiation regulation of epidermis development extrinsic apoptotic signaling pathway intrinsic apoptotic signaling pathway  uc001xgj.1 uc001xgj.2 uc001xgj.3 uc001xgj.4 uc001xgj.5 uc001xgj.6 
ENST00000247226.13 PLEKHG3 ENST00000247226.13 Homo sapiens pleckstrin homology and RhoGEF domain containing G3 (PLEKHG3), mRNA. (from RefSeq NM_001308147) A1L389 A1L390 B5MEC9 ENST00000247226.1 ENST00000247226.10 ENST00000247226.11 ENST00000247226.12 ENST00000247226.2 ENST00000247226.3 ENST00000247226.4 ENST00000247226.5 ENST00000247226.6 ENST00000247226.7 ENST00000247226.8 ENST00000247226.9 KIAA0599 NM_001308147 O60339 PKHG3_HUMAN Q6GMS3 Q6P4B1 Q7L3S3 Q86SW7 Q8TEF5 Q96EW6 Q9BT82 uc001xho.1 uc001xho.2 uc001xho.3 uc001xho.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A1L390-1; Sequence=Displayed; Name=2; IsoId=A1L390-2; Sequence=VSP_028533, VSP_041513; Name=3; IsoId=A1L390-3; Sequence=VSP_028534; Note=No experimental confirmation available; Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Sequence=BAB84995.1; Type=Miscellaneous discrepancy; Note=Intron retention. There are two regions of intron retention within the sequence which cause it to shift frame; Sequence=CAD66586.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Rho guanyl-nucleotide exchange factor activity regulation of Rho protein signal transduction  uc001xho.1 uc001xho.2 uc001xho.3 uc001xho.4 
ENST00000247270.3 EVI2A ENST00000247270.3 Homo sapiens ecotropic viral integration site 2A (EVI2A), transcript variant 1, mRNA. (from RefSeq NM_001003927) B2R5X2 B4DHX8 ENST00000247270.1 ENST00000247270.2 EVDA EVI2 EVI2A_HUMAN NM_001003927 P22794 uc002hgl.1 uc002hgl.2 uc002hgl.3 uc002hgl.4 May complex with itself or/and other proteins within the membrane, to function as part of a cell-surface receptor. Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22794-1; Sequence=Displayed; Name=2; IsoId=P22794-2; Sequence=VSP_038859; Note=No experimental confirmation available; Belongs to the EVI2A family. It is uncertain whether Met-1 or Met-5 is the initiator. Sequence=AAA52413.1; Type=Erroneous initiation; Sequence=BAG35269.1; Type=Erroneous initiation; transmembrane signaling receptor activity membrane integral component of membrane  uc002hgl.1 uc002hgl.2 uc002hgl.3 uc002hgl.4 
ENST00000247271.5 OMG ENST00000247271.5 Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA. (from RefSeq NM_002544) E1P659 ENST00000247271.1 ENST00000247271.2 ENST00000247271.3 ENST00000247271.4 NM_002544 OMGP OMGP_HUMAN P23515 uc002hgj.1 uc002hgj.2 uc002hgj.3 uc002hgj.4 uc002hgj.5 Cell adhesion molecule contributing to the interactive process required for myelination in the central nervous system. Binds to RTN4R (By similarity). Cell membrane; Lipid-anchor, GPI-anchor. Oligodendrocytes and myelin of the central nervous system. O-glycosylated in its Ser/Thr-rich repeat domain (Potential). Contains 8 LRR (leucine-rich) repeats. Contains 1 LRRNT domain. Do not confuse oligodendrocyte-myelin glycoprotein (OMG) with myelin-oligodendrocyte glycoprotein (MOG). plasma membrane cell adhesion membrane neuron projection regeneration anchored component of membrane negative regulation of axonogenesis  uc002hgj.1 uc002hgj.2 uc002hgj.3 uc002hgj.4 uc002hgj.5 
ENST00000247291.8 AIF1L ENST00000247291.8 Homo sapiens allograft inflammatory factor 1 like (AIF1L), transcript variant 1, mRNA. (from RefSeq NM_031426) AIF1L_HUMAN B2RBC4 C9orf58 ENST00000247291.1 ENST00000247291.2 ENST00000247291.3 ENST00000247291.4 ENST00000247291.5 ENST00000247291.6 ENST00000247291.7 IBA2 NM_031426 Q6ZR40 Q8NAX7 Q8WU47 Q9BQI0 Q9H9G0 UNQ672/PRO1306 uc004cab.1 uc004cab.2 uc004cab.3 uc004cab.4 Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function. Homodimer (Potential). Monomer. Cytoplasm, cytoskeleton. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with F-actin. Partially relocates to membrane ruffles in response to invading bacteria. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9BQI0-1; Sequence=Displayed; Name=2; IsoId=Q9BQI0-2; Sequence=VSP_017150; Name=3; IsoId=Q9BQI0-3; Sequence=VSP_017151; Name=4; IsoId=Q9BQI0-4; Sequence=VSP_017152, VSP_017153; Note=No experimental confirmation available; Contains 2 EF-hand domains. actin binding calcium ion binding cytoplasm cytoskeleton plasma membrane focal adhesion actin cytoskeleton membrane ruffle membrane macromolecular complex cell projection metal ion binding actin filament binding actin filament bundle assembly extracellular exosome ruffle assembly actin filament  uc004cab.1 uc004cab.2 uc004cab.3 uc004cab.4 
ENST00000247295.4 FAM78A ENST00000247295.4 family with sequence similarity 78 member A (from HGNC FAM78A) AK024434 ENST00000247295.1 ENST00000247295.2 ENST00000247295.3 uc064wqj.1  uc064wqj.1 
ENST00000247306.4 CTAG2 ENST00000247306.4 Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA. (from RefSeq NM_020994) CTAG2_HUMAN ENST00000247306.1 ENST00000247306.2 ENST00000247306.3 ESO2 LAGE1 NM_020994 O75637 O75638 Q0VIL6 Q14CD6 Q2Z1N4 Q9BU80 Q9UJ89 Q9Y479 uc004fmi.1 uc004fmi.2 This gene encodes an autoimmunogenic tumor antigen that belongs to the ESO/LAGE family of cancer-testis antigens. This protein is expressed in a wide array of cancers including melanoma, breast cancer, bladder cancer and prostate cancer. This protein is also expressed in normal testis tissue. An alternative open reading frame product of this gene has been described in PMID:10399963. This alternate protein, termed CAMEL, is a tumor antigen that is recognized by melanoma-specific cytotoxic T-lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Event=Alternative splicing; Named isoforms=2; Name=LAGE-1B; Synonyms=LAGE-1L; IsoId=O75638-1; Sequence=Displayed; Name=LAGE-1A; Synonyms=LAGE-1S; IsoId=O75638-2; Sequence=VSP_004301; Testis and very low level in placenta and in some uterus samples. Observed in 25-50% of tumor samples of melanomas, non-small-cell lung carcinomas, bladder, prostate and head and neck cancers. Belongs to the CTAG family. molecular_function protein binding centrosome biological_process positive regulation of transcription from RNA polymerase II promoter tRNA threonylcarbamoyladenosine metabolic process  uc004fmi.1 uc004fmi.2 
ENST00000247452.4 MAGEC2 ENST00000247452.4 Homo sapiens MAGE family member C2 (MAGEC2), mRNA. (from RefSeq NM_016249) ENST00000247452.1 ENST00000247452.2 ENST00000247452.3 HCA587 MAGC2_HUMAN MAGEE1 NM_016249 Q5JZ00 Q96D45 Q9P1M6 Q9P1M7 Q9UBF1 uc004fbu.1 uc004fbu.2 uc004fbu.3 uc004fbu.4 This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP283302.1, BC013318.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247452.4/ ENSP00000354660.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Proposed to enhance ubiquitin ligase activity of RING- type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex. Interacts with TRIM28 and UBE2H. P04637:TP53; NbExp=3; IntAct=EBI-5651487, EBI-366083; Q13263:TRIM28; NbExp=14; IntAct=EBI-5651487, EBI-78139; P62256:UBE2H; NbExp=3; IntAct=EBI-5651487, EBI-2129909; Cytoplasm. Nucleus. Note=Nuclear in germ cells. Cytoplasmic in well-differentiated hepatocellular carcinoma, nuclear in moderately- and poorly-differentiated hepatocellular carcinoma. Not expressed in normal tissues, except in germ cells in the seminiferous tubules and in Purkinje cells of the cerebellum. Expressed in various tumors, including melanoma, lymphoma, as well as pancreatic cancer, mammary gland cancer, non- small cell lung cancer and liver cancer. In hepatocellular carcinoma, there is a inverse correlation between tumor differentiation and protein expression, i.e. the lower the differentiation, the higher percentage of expression. Strongly expressed in spermatogonia and primary spermatocytes. At later stages of maturation, expression gradually decreases and becomes undetectable in mature spermatids. Contains 1 MAGE domain. protein binding nucleus nucleolus cytoplasm cytosol ubiquitin protein ligase binding cellular protein catabolic process positive regulation of ubiquitin-protein transferase activity  uc004fbu.1 uc004fbu.2 uc004fbu.3 uc004fbu.4 
ENST00000247461.9 CANX ENST00000247461.9 Homo sapiens calnexin (CANX), transcript variant 1, mRNA. (from RefSeq NM_001746) B2R5V8 CALX_HUMAN D3DWQ3 ENST00000247461.1 ENST00000247461.2 ENST00000247461.3 ENST00000247461.4 ENST00000247461.5 ENST00000247461.6 ENST00000247461.7 ENST00000247461.8 NM_001746 P27824 uc003mkk.1 uc003mkk.2 uc003mkk.3 uc003mkk.4 uc003mkk.5 This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.181014.1, SRR1660805.126186.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247461.9/ ENSP00000247461.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Calcium-binding protein that interacts with newly synthesized glycoproteins in the endoplasmic reticulum. It may act in assisting protein assembly and/or in the retention within the ER of unassembled protein subunits. It seems to play a major role in the quality control apparatus of the ER by the retention of incorrectly folded proteins. Associated with partial T-cell antigen receptor complexes that escape the ER of immature thymocytes, it may function as a signaling complex regulating thymocyte maturation. Additionally it may play a role in receptor- mediated endocytosis at the synapse. Interacts with MAPK3/ERK1. Interacts with KCNH2. Associates with ribosomes. Interacts with SGIP1; involved in negative regulation of endocytosis (By similarity). The palmitoylated form interacts with the ribosome-translocon complex component SSR1, promoting efficient folding of glycoproteins. Q92597:NDRG1; NbExp=2; IntAct=EBI-355947, EBI-716486; Endoplasmic reticulum membrane; Single-pass type I membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. The palmitoylated form preferentially localizes to the perinuclear rough ER. Phosphorylated at Ser-564 by MAPK3/ERK1. phosphorylation by MAPK3/ERK1 increases its association with ribosomes (By similarity). Palmitoylation by DHHC6 leads to the preferential localization to the perinuclear rough ER. It mediates the association of calnexin with the ribosome-translocon complex (RTC) which is required for efficient folding of glycosylated proteins. Belongs to the calreticulin family. Name=Wikipedia; Note=Calnexin entry; URL="http://en.wikipedia.org/wiki/Calnexin"; antigen processing and presentation of peptide antigen via MHC class I RNA binding calcium ion binding protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane smooth endoplasmic reticulum rough endoplasmic reticulum ribosome protein folding aging protein secretion membrane integral component of membrane antigen processing and presentation of exogenous peptide antigen via MHC class II carbohydrate binding axon endoplasmic reticulum unfolded protein response dendrite cytoplasm macromolecular complex apolipoprotein binding protein folding in endoplasmic reticulum ionotropic glutamate receptor binding melanosome neuronal cell body dendritic spine ER-mitochondrion membrane contact site endoplasmic reticulum quality control compartment metal ion binding synaptic vesicle endocytosis unfolded protein binding extracellular exosome interleukin-27-mediated signaling pathway interleukin-35-mediated signaling pathway integral component of lumenal side of endoplasmic reticulum membrane clathrin-dependent endocytosis glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic active zone membrane  uc003mkk.1 uc003mkk.2 uc003mkk.3 uc003mkk.4 uc003mkk.5 
ENST00000247470.10 PYCARD ENST00000247470.10 Homo sapiens PYD and CARD domain containing (PYCARD), transcript variant 1, mRNA. (from RefSeq NM_013258) ASC ASC_HUMAN CARD5 ENST00000247470.1 ENST00000247470.2 ENST00000247470.3 ENST00000247470.4 ENST00000247470.5 ENST00000247470.6 ENST00000247470.7 ENST00000247470.8 ENST00000247470.9 NM_013258 Q96D12 Q9BSZ5 Q9HBD0 Q9NXJ8 Q9ULZ3 TMS1 uc010cak.1 uc010cak.2 uc010cak.3 uc010cak.4 uc010cak.5 This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Functions as key mediator in apoptosis and inflammation. Promotes caspase-mediated apoptosis involving predominantly caspase-8 and also caspase-9 in a probable cell type-specific manner. Involved in activation of the mitochondrial apoptotic pathway, promotes caspase-8-dependent proteolytic maturation of BID independently of FADD in certain cell types and also mediates mitochondrial translocation of BAX and activates BAX-dependent apoptosis coupled to activation of caspase-9, -2 and -3. Involved in macrophage pyroptosis, a caspase-1-dependent inflammatory form of cell death and is the major constituent of the ASC pyroptosome which forms upon potassium depletion and rapidly recruits and activates caspase-1. In innate immune response believed to act as an integral adapter in the assembly of the inflammasome which activates caspase-1 leading to processing and secretion of proinflammatory cytokines. The function as activating adapter in different types of inflammasomes is mediated by the DAPIN and CARD domains and their homotypic interactions. Required for recruitment of caspase-1 to inflammasomes containing certain pattern recognition receptors, such as NLRP2, NLRP3, AIM2 and probably IFI16. In the NLRP1 and NLRC4 inflammasomes seems not be required but facilitates the processing of procaspase-1. In cooperation with NOD2 involved in an inflammasome activated by bacterial muramyl dipeptide leading to caspase-1 activation. May be involved in DDX58-triggered proinflammatory responses and inflammasome activation. Isoform 2 may have a regulating effect on the function as inflammasome adapter. Isoform 3 seems to inhibit inflammasome- mediated maturation of interleukin-1 beta. In collaboration with AIM2 which detects cytosolic double-stranded DNA may also be involved in a caspase-1-independent cell death that involves caspase-8. In adaptive immunity may be involved in maturation of dendritic cells to stimulate T cell immunity and in cytoskeletal rearrangements coupled to chemotaxis and antigen uptake may be involved in post-transcriptional regulation of the guanine nucleotide exchange factor DOCK2; the latter function is proposed to involve the nuclear form. Also involved in transcriptional activation of cytokines and chemokines independent of the inflammasome; this function may involve AP-1, NF-kappa-B, MAPK and caspase-8 signaling pathways. For regulation of NF-kappa-B activating and inhibiting functions have been reported. Modulates NF-kappa-B induction at the level of the IKK complex by inhibiting kinase activity of CHUK and IKBK. Proposed to compete with RIPK2 for association with CASP1 thereby down-regulating CASP1-mediated RIPK2-dependent NF-kappa-B activation and activating interleukin-1 beta processing. Self-associates; enforced oligomerization induces apoptosis, NF-kappa-B regulation and interleukin-1 beta seceretion. Homooligomers can form disk-like particles of approximately 12 nm diameter and approximately 1 nm height. Next to isorm 1 also isoform 2 and isoform 3 may be involved in oligomerization leading to functional regulation. Component of several inflammasomes containing one pattern recognition receptor/sensor, such as NLRP1, NLRP2, NLRP3, AIM2, MEFV or NOD2, and probably NLRC4, NLRP12 or IFI16. Major component of the ASC pyroptosome, a 1-2 um supramolecular assembly (one per macrophage cell) which consists of oligomerized PYCARD dimers and CASP1. Interacts with CASP1 (precursor form); the interaction induces activation of CASP1 leading to the processing of interleukin-1 beta; PYCARD competes with RIPK2 for binding to CASP1. Interacts with NLRP3; the interaction requires the homooligomerization of NLRP3. Interacts with NLRP2, NLRC4, MEFV, CARD16, AIM2, IFI16, NOD2, DDX58, RIPK2, PYDC1, PYDC2, NLRP10, CASP8, CHUK, IKBKB and BAX. O14862:AIM2; NbExp=4; IntAct=EBI-751215, EBI-6253193; Q07812:BAX; NbExp=7; IntAct=EBI-751215, EBI-516580; Q9C000:NLRP1; NbExp=5; IntAct=EBI-751215, EBI-1220518; Q96P20:NLRP3; NbExp=4; IntAct=EBI-751215, EBI-6253230; Cytoplasm. Endoplasmic reticulum. Mitochondrion. Nucleus. Note=Upstream of caspase activation, a redistribution from the cytoplasm to the aggregates occurs. These appear as hollow, perinuclear spherical, ball-like structures. Upon NLRP3 inflammasome activation redistributes to the perinuclear space localizing to endoplasmic reticulum and mitochondria. Localized primarily to the nucleus in resting monocytes/macrophages and rapidly redistributed to the cytoplasm upon pathogen infection. Localized to large cytoplasmic aggregate appearing as a speck containing AIM2, PYCARD, CASP8 and bacterial DNA after infection with Francisella tularensis (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=fASC; IsoId=Q9ULZ3-1; Sequence=Displayed; Name=2; Synonyms=Asc-b, vASC; IsoId=Q9ULZ3-2; Sequence=VSP_004119; Name=3; Synonyms=Asc-c; IsoId=Q9ULZ3-3; Sequence=VSP_004118; Note=No experimental confirmation available; Widely expressed at low levels. Detected in peripheral blood leukocytes, lung, small intestine, spleen, thymus, colon and at lower levels in placenta, liver and kidney. Very low expression in skeletal muscle, heart and brain. Detected in the leukemia cell lines HL-60 and U-937, but not in Jurkat T- cell lymphoma and Daudi Burkitt's lymphoma. Detected in the melanoma cell line WM35, but not in WM793. Not detected in HeLa cervical carcinoma cells and MOLT-4 lymphocytic leukemia cells. The DAPIN domain mediates homotypic interactions with DAPIN domains of proteins such as of NLRP3, PYDC1 and AIM2 (PubMed:11786556, PubMed:12656673, PubMed:19158676 and PubMed:19158675). The CARD domain mediates interaction with CASP1 and NLRC4 (PubMed:14634131 and PubMed:11967258). Phosphorylated. In breast tumorigenesis, methylation-mediated silencing may affect genes and proteins that act as positive mediators of cell death. Contains 1 CARD domain. Contains 1 DAPIN domain. Sequence=BAA91012.1; Type=Frameshift; Positions=4; Golgi membrane myeloid dendritic cell activation protease binding activation of innate immune response positive regulation of defense response to virus by host myeloid dendritic cell activation involved in immune response immune system process positive regulation of antigen processing and presentation of peptide antigen via MHC class II positive regulation of adaptive immune response cysteine-type endopeptidase activity interleukin-6 receptor binding protein binding tropomyosin binding extracellular region nucleus nucleolus cytoplasm mitochondrion endoplasmic reticulum Golgi apparatus cytosol proteolysis apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process inflammatory response signal transduction IkappaB kinase complex cysteine-type endopeptidase activator activity involved in apoptotic process response to bacterium regulation of autophagy regulation of tumor necrosis factor-mediated signaling pathway membrane myosin I binding enzyme binding positive regulation of actin filament polymerization regulation of protein stability negative regulation of NF-kappaB transcription factor activity Pyrin domain binding interleukin-1 beta production negative regulation of interferon-beta production positive regulation of interferon-gamma production positive regulation of interleukin-1 beta production positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production macromolecular complex tumor necrosis factor-mediated signaling pathway secretory granule lumen azurophil granule lumen positive regulation of activated T cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator identical protein binding protein homodimerization activity regulation of apoptotic process neuronal cell body positive regulation of apoptotic process regulation of GTPase activity negative regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of cysteine-type endopeptidase activity involved in apoptotic process regulation of cysteine-type endopeptidase activity involved in apoptotic process neutrophil degranulation ion channel binding macropinocytosis innate immune response positive regulation of JNK cascade protein dimerization activity positive regulation of interleukin-1 beta secretion regulation of inflammatory response positive regulation of phagocytosis defense response to Gram-negative bacterium positive regulation of T cell activation positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of NF-kappaB transcription factor activity protein homooligomerization defense response to virus positive regulation of ERK1 and ERK2 cascade BMP receptor binding cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor negative regulation of protein serine/threonine kinase activity intrinsic apoptotic signaling pathway by p53 class mediator NLRP1 inflammasome complex NLRP3 inflammasome complex positive regulation of chemokine secretion positive regulation of release of cytochrome c from mitochondria cysteine-type endopeptidase activity involved in apoptotic process AIM2 inflammasome complex extrinsic apoptotic signaling pathway in absence of ligand activation of cysteine-type endopeptidase activity negative regulation of cytokine production involved in inflammatory response positive regulation of T cell migration positive regulation of interleukin-8 secretion positive regulation of interleukin-6 secretion positive regulation of cysteine-type endopeptidase activity positive regulation of interleukin-10 secretion positive regulation of extrinsic apoptotic signaling pathway regulation of intrinsic apoptotic signaling pathway  uc010cak.1 uc010cak.2 uc010cak.3 uc010cak.4 uc010cak.5 
ENST00000247655.4 COX7C ENST00000247655.4 Homo sapiens cytochrome c oxidase subunit 7C (COX7C), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001867) COX7C_HUMAN ENST00000247655.1 ENST00000247655.2 ENST00000247655.3 NM_001867 P15954 Q6NR81 uc003kir.1 uc003kir.2 uc003kir.3 uc003kir.4 uc003kir.5 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: CD175575.1, SRR5189667.237129.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000247655.4/ ENSP00000247655.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Mitochondrion inner membrane (By similarity). Belongs to the cytochrome c oxidase VIIc family. cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane generation of precursor metabolites and energy mitochondrial electron transport, cytochrome c to oxygen membrane integral component of membrane hydrogen ion transmembrane transport  uc003kir.1 uc003kir.2 uc003kir.3 uc003kir.4 uc003kir.5 
ENST00000247665.12 PHPT1 ENST00000247665.12 Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 7, non-coding RNA. (from RefSeq NR_109808) ENST00000247665.1 ENST00000247665.10 ENST00000247665.11 ENST00000247665.2 ENST00000247665.3 ENST00000247665.4 ENST00000247665.5 ENST00000247665.6 ENST00000247665.7 ENST00000247665.8 ENST00000247665.9 NR_109808 V9HWC4 uc004cjq.1 uc004cjq.2 uc004cjq.3 uc004cjq.4 uc004cjq.5 uc004cjq.6 uc004cjq.7 This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BG253919.1, SRR1163657.187976.1 [ECO:0000332] ##Evidence-Data-END##  uc004cjq.1 uc004cjq.2 uc004cjq.3 uc004cjq.4 uc004cjq.5 uc004cjq.6 uc004cjq.7 
ENST00000247668.7 TRAF2 ENST00000247668.7 Homo sapiens TNF receptor associated factor 2 (TRAF2), mRNA. (from RefSeq NM_021138) A8K107 B4DPJ7 ENST00000247668.1 ENST00000247668.2 ENST00000247668.3 ENST00000247668.4 ENST00000247668.5 ENST00000247668.6 NM_021138 Q12933 Q7Z337 Q96NT2 TRAF2_HUMAN TRAP3 uc004cjv.1 uc004cjv.2 uc004cjv.3 uc004cjv.4 uc004cjv.5 The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC043492.1, SRR1803611.110533.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247668.7/ ENSP00000247668.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulates activation of NF-kappa-B and JNK and plays a central role in the regulation of cell survival and apoptosis. Required for normal antibody isotype switching from IgM to IgG. Has E3 ubiquitin-protein ligase activity and promotes 'Lys-63'- linked ubiquitination of target proteins, such as BIRC3, RIPK1 and TICAM1. Is an essential constituent of several E3 ubiquitin- protein ligase complexes, where it promotes the ubiquitination of target proteins by bringing them into contact with other E3 ubiquitin ligases. Regulates BIRC2 and BIRC3 protein levels by inhibiting their autoubiquitination and subsequent degradation; this does not depend on the TRAF2 RING-type zinc finger domain. Has very low E3 ubiquitin ligase activity in the absence of sphingosine-1-phosphate. E3 ubiquitin ligase activity is strongly activated by cytoplasmic sphingosine-1- phosphate. Protein modification; protein ubiquitination. Homotrimer, and heterotrimer with TRAF1 and TRAF3 (via TRAF domain). The domain containing the RING-type and the first TRAF-type zinc finger can also form homodimers (in vitro). Interacts with TNFRSF1B/TNFR2, TNFRSF4, TNFRSF5/CD40, CD27/TNFRSF7, TNFRSF8/CD30, TNFRSF9/CD137, TNFRSF11A/RANK, TNFRSF13B/TACI, TNFRSF14, TNFRSF16/NGFR, TNFRSF17/BCMA, TNFRSF18/AITR, TNFRSF19/TROY, TNFRSF19L/RELT, XEDAR, EDAR, Epstein-Barr virus BNFL1/LMP-1 and IL15RA. Interacts with CDK9, CSK, MAP3K1, MAP3K5, MAP3K11, MAP3K14, MAP4K2, RIPK1, RIPK2, TNIK, TBK1, SPHK1, TRADD, TRAFD1, TRAIP, TANK/ITRAF, TNFAIP3, TDP2, MAVS/IPS1, TICAM1 and TRPC4AP. Interacts with CASP8AP2, NFATC2IP, PEG3 and HIVEP3 (By similarity). Interacts with BIRC2 and BIRC3 N- terminus; a single BIRC2 or BIRC3 molecule interacts with a heterotrimer formed by TRAF1 and TRAF2, or a TRAF2 homotrimer. Identified in a complex composed of TRAF2, TRAF3, BIRC2 and BIRC3. Interaction with BIRC2 and/or BIRC3 is essential for degradation of NFKBIA and activation of NF-kappa-B. Interacts with CYLD, USP48, DAB2IP, IKKA and IKKB. Identified in a complex with TNFRSF1A, RIPK1 and IKKB. Interacts (via 'Lys-63'-linked polyubiquitin chains) with TAB2 and TAB3. Interacts with ERN1 and TAOK3. Interaction with TAOK3 is facilitated under ER stress conditions, such as treatment with tunicamycin, and may promote TRAF2 phosphorylation. Self; NbExp=3; IntAct=EBI-355744, EBI-355744; P54253:ATXN1; NbExp=2; IntAct=EBI-355744, EBI-930964; Q13490:BIRC2; NbExp=8; IntAct=EBI-355744, EBI-514538; Q13489:BIRC3; NbExp=5; IntAct=EBI-355744, EBI-517709; O08736:Casp12 (xeno); NbExp=6; IntAct=EBI-355744, EBI-6140033; O75460:ERN1; NbExp=2; IntAct=EBI-355744, EBI-371750; P09211:GSTP1; NbExp=4; IntAct=EBI-355744, EBI-353467; P07174:Ngfr (xeno); NbExp=3; IntAct=EBI-355744, EBI-1038810; Q92844:TANK; NbExp=3; IntAct=EBI-355744, EBI-356349; Q9H2K8:TAOK3; NbExp=2; IntAct=EBI-355744, EBI-1384100; Q9NP84:TNFRSF12A; NbExp=3; IntAct=EBI-355744, EBI-2851995; Q92956:TNFRSF14; NbExp=4; IntAct=EBI-355760, EBI-1056653; P70191:Traf5 (xeno); NbExp=2; IntAct=EBI-355744, EBI-523899; Q6FIF0:ZFAND6; NbExp=6; IntAct=EBI-355744, EBI-724630; Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q12933-1; Sequence=Displayed; Name=2; IsoId=Q12933-2; Sequence=VSP_007401; Note=No experimental confirmation available; Name=3; IsoId=Q12933-3; Sequence=VSP_039687; Note=No experimental confirmation available; Name=4; IsoId=Q12933-4; Sequence=VSP_039688; Note=No experimental confirmation available; The coiled coil domain mediates homo- and hetero- oligomerization. The MATH/TRAF domain binds to receptor cytoplasmic domains. The RING-type zinc finger domain is essential for E3 ubiquitin-protein ligase activity. It is not essential for the stabilization of BIRC2, or for the ubiquitination of RIPK1 in response to TNFR1 signaling. Phosphorylated at several serine residues within the first 128 amino acid residues. Phosphorylated at Thr-117 in response to signaling via TNF and TNFRSF1A. Phosphorylation at Thr-117 is required for 'Lys-63'-linked polyubiquitination, but not for 'Lys- 48'-linked polyubiquitination. Phosphorylation at Thr-117 is important for interaction with IKKA and IKKB, activation of IKK and subsequent activation of NF-kappa-B. Undergoes both 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination. Polyubiquitinated via 'Lys-63'-linked ubiquitin in response to TNF signaling; this requires prior phosphorylation at Thr-117. 'Lys-63'-linked polyubiquitination promotes TRAF2-mediated activation of NF-kappa-B. Can be polyubiquitinated at several Lys residues via 'Lys-48'-linked ubiquitin chains in response to TNF signaling, leading to proteasomal degradation. Autoubiquitinated, leading to its subsequent proteasomal degradation. Polyubiquitinated by BIRC2 and SIAH2, leading to its subsequent proteasomal degradation. Deubiquitinated by CYLD, a protease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Belongs to the TNF receptor-associated factor family. A subfamily. Contains 1 MATH domain. Contains 1 RING-type zinc finger. Contains 2 TRAF-type zinc fingers. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/traf2/"; ubiquitin ligase complex positive regulation of T cell cytokine production ubiquitin-protein transferase activity tumor necrosis factor receptor binding CD40 receptor binding protein binding nucleoplasm cytoplasm cytosol cell cortex apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction I-kappaB kinase/NF-kappaB signaling activation of NF-kappaB-inducing kinase activity zinc ion binding lipid binding cytoplasmic side of plasma membrane regulation of tumor necrosis factor-mediated signaling pathway vesicle membrane protein ubiquitination protein deubiquitination transferase activity enzyme binding protein kinase binding protein phosphatase binding protein catabolic process mitogen-activated protein kinase kinase kinase binding ubiquitin protein ligase binding thioesterase binding positive regulation of interleukin-2 production macromolecular complex tumor necrosis factor-mediated signaling pathway negative regulation of glial cell apoptotic process cellular macromolecular complex assembly response to endoplasmic reticulum stress CD40 receptor complex identical protein binding regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JUN kinase activity macromolecular complex binding membrane raft regulation of JNK cascade sphingolipid binding metal ion binding regulation of immunoglobulin secretion positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of NF-kappaB transcription factor activity protein heterooligomerization protein autoubiquitination macromolecular complex assembly intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress protein homotrimerization protein K63-linked ubiquitination death-inducing signaling complex assembly cellular response to nitric oxide positive regulation of protein homodimerization activity TRAF2-GSTP1 complex programmed necrotic cell death negative regulation of neuron death regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of tumor necrosis factor-mediated signaling pathway positive regulation of I-kappaB phosphorylation IRE1-TRAF2-ASK1 complex positive regulation of extrinsic apoptotic signaling pathway  uc004cjv.1 uc004cjv.2 uc004cjv.3 uc004cjv.4 uc004cjv.5 
ENST00000247706.4 ABHD8 ENST00000247706.4 Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA. (from RefSeq NM_024527) ABHD8_HUMAN ENST00000247706.1 ENST00000247706.2 ENST00000247706.3 NM_024527 Q96I13 Q9HAE9 uc002ngb.1 uc002ngb.2 uc002ngb.3 uc002ngb.4 uc002ngb.5 This gene is upstream of, and in a head-to-head orientation with the gene for the mitochondrial ribosomal protein L34. The predicted protein contains alpha/beta hydrolase fold and secretory lipase domains. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK021805.1, SRR3476690.934146.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247706.4/ ENSP00000247706.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the AB hydrolase superfamily. catalytic activity hydrolase activity extracellular exosome  uc002ngb.1 uc002ngb.2 uc002ngb.3 uc002ngb.4 uc002ngb.5 
ENST00000247815.9 HELB ENST00000247815.9 Homo sapiens DNA helicase B (HELB), transcript variant 2, non-coding RNA. (from RefSeq NR_135080) A8K4C9 ENST00000247815.1 ENST00000247815.2 ENST00000247815.3 ENST00000247815.4 ENST00000247815.5 ENST00000247815.6 ENST00000247815.7 ENST00000247815.8 HELB_HUMAN NR_135080 Q4G0T2 Q8NG08 Q9H7L5 uc058qna.1 uc058qna.2 This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]. Unwinds duplex DNA with 5'-3' polarity. Has single- strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress. ATP + H(2)O = ADP + phosphate. Inhibited by salt concentration greater than 100 mM. Uses either magnesium or manganese ions to support helicase activity. Binds strongly to single-stranded DNA in the absence of ATP but dissociates readily in the presence of 1 mM ATP. Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage. Interacts with at least two subunits of pol-prim. Note=Preferentially during S phase, recruited to chromatin following DNA damage induced by UV irradiation, or camptothecin or hydroxyurea treatment. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8NG08-1; Sequence=Displayed; Name=2; IsoId=Q8NG08-2; Sequence=VSP_034086, VSP_034087; Note=No experimental confirmation available; Highly expressed in testis and thymus and weakly in liver, spleen, kidney and brain. Phosphorylated upon DNA damage, probably by ATM or ATR. Sequence=BAB15754.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; nucleotide binding DNA helicase activity RNA binding helicase activity ATP binding nucleus chromosome cytoplasm DNA replication DNA-dependent DNA replication DNA replication, synthesis of RNA primer DNA repair cellular response to DNA damage stimulus hydrolase activity single-stranded DNA-dependent ATP-dependent DNA helicase activity DNA duplex unwinding site of double-strand break 5'-3' DNA helicase activity macromolecular complex binding regulation of DNA double-strand break processing negative regulation of double-strand break repair via homologous recombination DNA replication factor A complex  uc058qna.1 uc058qna.2 
ENST00000247829.8 TSPAN8 ENST00000247829.8 Homo sapiens tetraspanin 8 (TSPAN8), transcript variant 1, mRNA. (from RefSeq NM_004616) B2R7T7 ENST00000247829.1 ENST00000247829.2 ENST00000247829.3 ENST00000247829.4 ENST00000247829.5 ENST00000247829.6 ENST00000247829.7 NM_004616 P19075 Q9BS78 TM4SF3 TSN8_HUMAN uc001swj.1 uc001swj.2 uc001swj.3 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.197112.1, SRR5189658.51506.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247829.8/ ENSP00000247829.3 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Membrane; Multi-pass membrane protein. Gastric, colon, rectal, and pancreatic carcinomas. Belongs to the tetraspanin (TM4SF) family. integrin binding protein binding integral component of plasma membrane spermatogenesis cell surface regulation of gene expression membrane integral component of membrane negative regulation of blood coagulation extracellular exosome  uc001swj.1 uc001swj.2 uc001swj.3 
ENST00000247833.12 RAB3IP ENST00000247833.12 Homo sapiens RAB3A interacting protein (RAB3IP), transcript variant alpha 1, mRNA. (from RefSeq NM_022456) B7WPJ6 ENST00000247833.1 ENST00000247833.10 ENST00000247833.11 ENST00000247833.2 ENST00000247833.3 ENST00000247833.4 ENST00000247833.5 ENST00000247833.6 ENST00000247833.7 ENST00000247833.8 ENST00000247833.9 NM_022456 Q6PCE4 Q96A24 Q96QE6 Q96QE7 Q96QE8 Q96QE9 Q96QF0 Q96QF1 Q9H673 RAB3I_HUMAN RABIN8 uc001svm.1 uc001svm.2 uc001svm.3 uc001svm.4 uc001svm.5 uc001svm.6 Guanine nucleotide exchange factor (GEF) which may activate RAB8A and RAB8B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP- bound form. Mediates the release of GDP from RAB8A and RAB8B but not from RAB3A or RAB5. Modulates actin organization and promotes polarized transport of RAB8A-specific vesicles to the cell surface. Together with RAB11A, RAB8A, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. Interacts with the N-terminal region of SSX2. Interacts with the GDP-bound forms of RAB3A, RAB3D, RAB8A and RAB8B. Q8NFJ9:BBS1; NbExp=2; IntAct=EBI-747860, EBI-1805484; Q8TBN0:RAB3IL1; NbExp=3; IntAct=EBI-747844, EBI-743796; Q16385:SSX2B; NbExp=4; IntAct=EBI-747865, EBI-2210673; P48553:TRAPPC10; NbExp=6; IntAct=EBI-747844, EBI-6160572; Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, actin patch. Cell projection, lamellipodium. Note=Predominantly cytoplasmic but a small proportion colocalizes with SSX2 in the nucleus. Activation of protein kinase C results in redistribution to the periphery of lamellipodia. Event=Alternative splicing; Named isoforms=8; Name=2; Synonyms=alpha2; IsoId=Q96QF0-1; Sequence=Displayed; Name=1; Synonyms=alpha1; IsoId=Q96QF0-2; Sequence=VSP_051755; Name=3; Synonyms=beta1; IsoId=Q96QF0-3; Sequence=VSP_051755, VSP_051761, VSP_051762; Name=4; Synonyms=beta2; IsoId=Q96QF0-4; Sequence=VSP_051761, VSP_051762; Name=5; Synonyms=gamma1; IsoId=Q96QF0-5; Sequence=VSP_051755, VSP_051757, VSP_051759; Name=6; Synonyms=gamma2; IsoId=Q96QF0-6; Sequence=VSP_051757, VSP_051759; Name=7; IsoId=Q96QF0-7; Sequence=VSP_051755, VSP_051758, VSP_051760; Note=No experimental confirmation available; Name=8; IsoId=Q96QF0-8; Sequence=VSP_051756; Expressed in brain, kidney, heart, pancreas and placenta. Not detected in skeletal muscle or liver. Belongs to the SEC2 family. guanyl-nucleotide exchange factor activity protein binding nucleus cytoplasm centrosome cytosol cytoskeleton protein targeting to membrane Golgi to plasma membrane transport protein transport Rab guanyl-nucleotide exchange factor activity lamellipodium protein localization to organelle ciliary basal body identical protein binding cell projection cilium assembly ciliary basal body docking  uc001svm.1 uc001svm.2 uc001svm.3 uc001svm.4 uc001svm.5 uc001svm.6 
ENST00000247843.7 YEATS4 ENST00000247843.7 Homo sapiens YEATS domain containing 4 (YEATS4), transcript variant 1, mRNA. (from RefSeq NM_006530) ENST00000247843.1 ENST00000247843.2 ENST00000247843.3 ENST00000247843.4 ENST00000247843.5 ENST00000247843.6 GAS41 NM_006530 O95619 Q9NQD0 YETS4_HUMAN uc001sux.1 uc001sux.2 uc001sux.3 uc001sux.4 uc001sux.5 The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of numerous complexes with chromatin remodeling and histone acetyltransferase activity. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. YEATS4 interacts with MLLT10/AF10. YEATS4 may also interact with the SWI/SNF component SMARCB1/BAF47, TACC1 and TACC2, and the nuclear matrix protein NUMA1. O75410:TACC1; NbExp=6; IntAct=EBI-399269, EBI-624237; Nucleus. Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Contains 1 YEATS domain. Sequence=CAC01935.1; Type=Erroneous initiation; mitotic cell cycle DNA binding transcription factor activity, sequence-specific DNA binding structural constituent of cytoskeleton protein binding nucleus nucleoplasm chromatin organization regulation of transcription, DNA-templated cytoskeleton organization protein C-terminus binding nuclear matrix nuclear membrane NuA4 histone acetyltransferase complex regulation of growth histone H4 acetylation histone H2A acetylation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter  uc001sux.1 uc001sux.2 uc001sux.3 uc001sux.4 uc001sux.5 
ENST00000247866.9 NDUFB2 ENST00000247866.9 Homo sapiens NADH:ubiquinone oxidoreductase subunit B2 (NDUFB2), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004546) ENST00000247866.1 ENST00000247866.2 ENST00000247866.3 ENST00000247866.4 ENST00000247866.5 ENST00000247866.6 ENST00000247866.7 ENST00000247866.8 NDUB2_HUMAN NM_004546 O95178 Q6FGI6 uc003vwa.1 uc003vwa.2 uc003vwa.3 uc003vwa.4 uc003vwa.5 The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BP373427.2, AF050639.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000247866.9/ ENSP00000247866.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Belongs to the complex I NDUFB2 subunit family. mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone NADH dehydrogenase (ubiquinone) activity membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain  uc003vwa.1 uc003vwa.2 uc003vwa.3 uc003vwa.4 uc003vwa.5 
ENST00000247879.2 TAS2R3 ENST00000247879.2 Homo sapiens taste 2 receptor member 3 (TAS2R3), mRNA. (from RefSeq NM_016943) A4D1U2 ENST00000247879.1 NM_016943 Q645W2 Q75MV6 Q9NYW6 TA2R3_HUMAN uc003vwp.1 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095523.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247879.2/ ENSP00000247879.2 RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 19372376 ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Expressed in the antrum and fundus (part of the stomach), duodenum and in gastric endocrine cells. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. Sequence=AAU21157.1; Type=Erroneous initiation; detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc003vwp.1 
ENST00000247881.4 TAS2R4 ENST00000247881.4 Homo sapiens taste 2 receptor member 4 (TAS2R4), mRNA. (from RefSeq NM_016944) ENST00000247881.1 ENST00000247881.2 ENST00000247881.3 NM_016944 Q645W5 Q75MV8 Q9NYW5 TA2R4_HUMAN uc003vwq.1 uc003vwq.2 uc003vwq.3 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: SRR1803615.226850.1, SRR1660805.122680.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247881.4/ ENSP00000247881.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor for denatonium and N(6)- propyl-2-thiouracil implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. Membrane; Multi-pass membrane protein. Cell projection, cilium membrane. Note=In airway epithelial cells, localizes to motile cilia. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Expressed on airway ciliated epithelium. Several bitter taste receptors are expressed in a single taste receptor cell. Belongs to the G-protein coupled receptor T2R family. Name=Protein Spotlight; Note=A tail of protection - Issue 119 of July 2010; URL="http://web.expasy.org/spotlight/back_issues/sptlt119.shtml"; detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway respiratory gaseous exchange taste receptor activity membrane integral component of membrane bitter taste receptor activity cell projection response to stimulus sensory perception of taste ciliary membrane  uc003vwq.1 uc003vwq.2 uc003vwq.3 
ENST00000247883.5 TAS2R5 ENST00000247883.5 Homo sapiens taste 2 receptor member 5 (TAS2R5), mRNA. (from RefSeq NM_018980) ENST00000247883.1 ENST00000247883.2 ENST00000247883.3 ENST00000247883.4 NM_018980 Q645W0 Q75MV7 Q9NYW4 TA2R5_HUMAN uc003vwr.1 uc003vwr.2 This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095522.1, SRR1660803.244645.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000247883.5/ ENSP00000247883.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5. Membrane; Multi-pass membrane protein. Expressed in subsets of taste receptor cells of the tongue and palate epithelium and exclusively in gustducin- positive cells. Most taste cells may be activated by a limited number of bitter compounds; individual taste cells can discriminate among bitter stimuli. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway chemosensory behavior taste receptor activity membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc003vwr.1 uc003vwr.2 
ENST00000247930.5 ZNF777 ENST00000247930.5 Homo sapiens zinc finger protein 777 (ZNF777), mRNA. (from RefSeq NM_015694) ENST00000247930.1 ENST00000247930.2 ENST00000247930.3 ENST00000247930.4 KIAA1285 NM_015694 Q8N2R2 Q8N659 Q9ULD5 ZN777_HUMAN uc003wfv.1 uc003wfv.2 uc003wfv.3 uc003wfv.4 uc003wfv.5 May be involved in transcriptional regulation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9ULD5-1; Sequence=Displayed; Name=2; IsoId=Q9ULD5-2; Sequence=VSP_026559; Note=No experimental confirmation available; Name=3; IsoId=Q9ULD5-3; Sequence=VSP_026558, VSP_026559; Note=No experimental confirmation available; Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 6 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=AAH23985.2; Type=Erroneous initiation; Sequence=BAA86599.1; Type=Erroneous initiation; Sequence=BAC11033.1; Type=Erroneous initiation; molecular_function nucleic acid binding DNA binding cellular_component nucleus regulation of transcription, DNA-templated biological_process metal ion binding  uc003wfv.1 uc003wfv.2 uc003wfv.3 uc003wfv.4 uc003wfv.5 
ENST00000247933.9 IDUA ENST00000247933.9 Homo sapiens alpha-L-iduronidase (IDUA), transcript variant 2, non-coding RNA. (from RefSeq NR_110313) ENST00000247933.1 ENST00000247933.2 ENST00000247933.3 ENST00000247933.4 ENST00000247933.5 ENST00000247933.6 ENST00000247933.7 ENST00000247933.8 IDUA_HUMAN NR_110313 P35475 uc003gby.1 uc003gby.2 uc003gby.3 uc003gby.4 uc003gby.5 uc003gby.6 This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]. Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate. Monomer (Probable). Lysosome. Ubiquitous. Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]; also known as Hurler syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]; also known as Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]; also known as Scheie syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. Belongs to the glycosyl hydrolase 39 family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IDUA"; L-iduronidase activity hydrolase activity, hydrolyzing O-glycosyl compounds receptor binding lysosome carbohydrate metabolic process disaccharide metabolic process glycosaminoglycan catabolic process metabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds coated vesicle chondroitin sulfate catabolic process dermatan sulfate catabolic process heparin catabolic process lysosomal lumen extracellular exosome  uc003gby.1 uc003gby.2 uc003gby.3 uc003gby.4 uc003gby.5 uc003gby.6 
ENST00000247956.11 ZNF317 ENST00000247956.11 Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA. (from RefSeq NM_020933) ENST00000247956.1 ENST00000247956.10 ENST00000247956.2 ENST00000247956.3 ENST00000247956.4 ENST00000247956.5 ENST00000247956.6 ENST00000247956.7 ENST00000247956.8 ENST00000247956.9 KIAA1588 NM_020933 Q6DCA9 Q96PM0 Q96PM1 Q96PQ6 Q96PT2 Q9HCI4 ZN317_HUMAN uc002mku.1 uc002mku.2 uc002mku.3 uc002mku.4 uc002mku.5 May function as a transcription factor. May play an important role in erythroid maturation and lymphoid proliferation. Nucleus (Probable). Event=Alternative splicing; Named isoforms=4; Name=2; Synonyms=ZNF317-2; IsoId=Q96PQ6-1; Sequence=Displayed; Name=1; Synonyms=ZNF317-1; IsoId=Q96PQ6-2; Sequence=VSP_006916; Name=3; Synonyms=ZNF317-3; IsoId=Q96PQ6-3; Sequence=VSP_006915, VSP_006916; Name=4; Synonyms=ZNF317-4; IsoId=Q96PQ6-4; Sequence=VSP_006915; Isoform 1 and isoform 2 are ubiquitously expressed. Isoform 3 and isoform 4 are expressed only in lymphocytes, spleen and lung. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers. Contains 1 KRAB domain. Sequence=BAB13414.1; Type=Erroneous initiation; nucleic acid binding DNA binding protein binding nucleus regulation of transcription, DNA-templated metal ion binding  uc002mku.1 uc002mku.2 uc002mku.3 uc002mku.4 uc002mku.5 
ENST00000247970.9 PIN1 ENST00000247970.9 Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1 (PIN1), transcript variant 1, mRNA. (from RefSeq NM_006221) A8K4V9 ENST00000247970.1 ENST00000247970.2 ENST00000247970.3 ENST00000247970.4 ENST00000247970.5 ENST00000247970.6 ENST00000247970.7 ENST00000247970.8 NM_006221 PIN1_HUMAN Q13526 Q53X75 uc002mml.1 uc002mml.2 uc002mml.3 uc002mml.4 Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimer's disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]. Essential PPIase that regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Displays a preference for an acidic residue N-terminal to the isomerized proline bond. Catalyzes pSer/Thr-Pro cis/trans isomerizations. Down-regulates kinase activity of BTK. Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation. Peptidylproline (omega=180) = peptidylproline (omega=0). Interacts with STIL (By similarity). Interacts with KIF20B. Interacts with NEK6. Interacts (via WW domain) with PRKX. Interacts with BTK. Interacts (via PpiC domain) with DAPK1. Interacts with the phosphorylated form of RAF1. Interacts (via WW domain) with ATCAY; upon NGF stimulation. P05067-4:APP; NbExp=2; IntAct=EBI-714158, EBI-302641; Q15131:CDK10; NbExp=5; IntAct=EBI-714158, EBI-1646959; P51617:IRAK1; NbExp=10; IntAct=EBI-714158, EBI-358664; Q9HC98:NEK6; NbExp=3; IntAct=EBI-714158, EBI-740364; P46531:NOTCH1; NbExp=9; IntAct=EBI-714158, EBI-636374; P04637:TP53; NbExp=11; IntAct=EBI-714158, EBI-366083; Nucleus. Nucleus speckle. Cytoplasm. Note=Co-localizes with NEK6 in the nucleus. Mainly localized in the nucleus but phosphorylation at Ser-71 by DAPK1 results in inhibition of its nuclear localization. The phosphorylated form at Ser-71 is expressed in normal breast tissue cells but not in breast cancer cells. The WW domain is required for the interaction with STIL and KIF20B. Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation at Ser-71 by DAPK1 results in inhibition of its catalytic activity, nuclear localization, and its ability to induce centrosome amplification, chromosome instability and cell transformation. Contains 1 PpiC domain. Contains 1 WW domain. protein peptidyl-prolyl isomerization response to hypoxia regulation of protein phosphorylation positive regulation of protein phosphorylation peptidyl-prolyl cis-trans isomerase activity motor activity protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol cell cycle regulation of mitotic nuclear division beta-catenin binding regulation of gene expression nuclear speck isomerase activity cis-trans isomerase activity neuron differentiation midbody negative regulation of transforming growth factor beta receptor signaling pathway mitogen-activated protein kinase kinase binding regulation of protein stability negative regulation of protein binding positive regulation of protein binding regulation of cytokinesis negative regulation of type I interferon production GTPase activating protein binding positive regulation of protein dephosphorylation negative regulation of protein catabolic process neuron projection negative regulation of neuron apoptotic process positive regulation of neuron apoptotic process positive regulation of GTPase activity positive regulation of transcription from RNA polymerase II promoter tau protein binding synapse organization phosphoserine binding phosphothreonine binding protein stabilization phosphoprotein binding positive regulation of ubiquitin-protein transferase activity regulation of pathway-restricted SMAD protein phosphorylation positive regulation of cell growth involved in cardiac muscle cell development negative regulation of ERK1 and ERK2 cascade positive regulation of canonical Wnt signaling pathway glutamatergic synapse postsynaptic cytosol regulation of protein localization to nucleus regulation of signal transduction by p53 class mediator negative regulation of beta-amyloid formation negative regulation of cell motility microtubule polymerization  uc002mml.1 uc002mml.2 uc002mml.3 uc002mml.4 
ENST00000247977.9 FBXL12 ENST00000247977.9 Homo sapiens F-box and leucine rich repeat protein 12 (FBXL12), transcript variant 1, mRNA. (from RefSeq NM_017703) B3KSJ8 ENST00000247977.1 ENST00000247977.2 ENST00000247977.3 ENST00000247977.4 ENST00000247977.5 ENST00000247977.6 ENST00000247977.7 ENST00000247977.8 FBL12 FXL12_HUMAN NM_017703 Q9H5K4 Q9NXK8 uc002mme.1 uc002mme.2 uc002mme.3 uc002mme.4 Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]. Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity). Interacts with SKP1 and CUL1 (By similarity). Q9H0A6:RNF32; NbExp=2; IntAct=EBI-719790, EBI-724829; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXK8-1; Sequence=Displayed; Name=2; IsoId=Q9NXK8-2; Sequence=VSP_008859; Contains 1 F-box domain. Contains 8 LRR (leucine-rich) repeats. G2/M transition of mitotic cell cycle ubiquitin ligase complex protein polyubiquitination protein binding nucleus cytoplasm cytosol ubiquitin-dependent protein catabolic process protein ubiquitination SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process post-translational protein modification regulation of cell cycle ubiquitin protein ligase activity  uc002mme.1 uc002mme.2 uc002mme.3 uc002mme.4 
ENST00000247986.2 KIF17 ENST00000247986.2 Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. (from RefSeq NM_020816) A2A3Q7 A2A3Q8 ENST00000247986.1 KIAA1405 KIF17_HUMAN KIF3X NM_020816 O95077 Q53YS6 Q5VWA9 Q6GSA8 Q8N411 Q9P2E2 uc001bdr.1 uc001bdr.2 uc001bdr.3 uc001bdr.4 uc001bdr.5 uc001bdr.6 Transports vesicles containing N-methyl-D-aspartate (NMDA) receptor 2B along microtubules (By similarity). Interacts with LIN-10 PDZ domain. Interacts with PIWIL1 (By similarity). Interacts with TBATA (By similarity). Cytoplasm, cytoskeleton (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=KIF17b; IsoId=Q9P2E2-1; Sequence=Displayed; Name=2; IsoId=Q9P2E2-3; Sequence=VSP_040346; Belongs to the kinesin-like protein family. Contains 1 kinesin-motor domain. Sequence=AAD01428.1; Type=Frameshift; Positions=970, 990; Sequence=AAD01428.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAH36871.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAA92643.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=CAH73471.1; Type=Erroneous gene model prediction; Sequence=CAI23390.1; Type=Erroneous gene model prediction; nucleotide binding microtubule motor activity ATP binding cytoplasm cytosol cytoskeleton kinesin complex microtubule cilium axoneme microtubule-based process microtubule-based movement microtubule binding ATP-dependent microtubule motor activity, plus-end-directed protein transport microtubule cytoskeleton vesicle-mediated transport ATPase activity cell projection organization intraciliary transport particle B protein complex localization photoreceptor connecting cilium dendrite cytoplasm intraciliary transport involved in cilium assembly ciliary basal body cell projection neuron projection anterograde dendritic transport of neurotransmitter receptor complex periciliary membrane compartment  uc001bdr.1 uc001bdr.2 uc001bdr.3 uc001bdr.4 uc001bdr.5 uc001bdr.6 
ENST00000247992.5 PLA2G2C ENST00000247992.5 Belongs to the phospholipase A2 family. (from UniProt J3KMZ3) ENST00000247992.1 ENST00000247992.2 ENST00000247992.3 ENST00000247992.4 J3KMZ3 J3KMZ3_HUMAN uc009vpq.1 Belongs to the phospholipase A2 family. The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. phospholipase A2 activity calcium ion binding extracellular region lipid metabolic process phospholipid metabolic process lipid catabolic process hydrolase activity arachidonic acid secretion  uc009vpq.1 
ENST00000248041.12 CYP4F11 ENST00000248041.12 Homo sapiens cytochrome P450 family 4 subfamily F member 11 (CYP4F11), transcript variant 2, mRNA. (from RefSeq NM_001128932) CP4FB_HUMAN ENST00000248041.1 ENST00000248041.10 ENST00000248041.11 ENST00000248041.2 ENST00000248041.3 ENST00000248041.4 ENST00000248041.5 ENST00000248041.6 ENST00000248041.7 ENST00000248041.8 ENST00000248041.9 NM_001128932 O75254 Q96AQ5 Q9HBI6 uc002nbu.1 uc002nbu.2 uc002nbu.3 This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O. Heme group (By similarity). Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Microsome membrane; Single-pass membrane protein (By similarity). Expressed mainly in human liver, followed by kidney, heart, and skeletal muscle. Belongs to the cytochrome P450 family. Sequence=AAC27731.1; Type=Erroneous gene model prediction; monooxygenase activity fatty acid binding iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process inflammatory response blood coagulation membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen arachidonic acid metabolic process heme binding organelle membrane oxylipin biosynthetic process menaquinone catabolic process phylloquinone catabolic process vitamin K catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process aromatase activity  uc002nbu.1 uc002nbu.2 uc002nbu.3 
ENST00000248054.10 SIN3B ENST00000248054.10 Homo sapiens SIN3 transcription regulator family member B (SIN3B), transcript variant 2, mRNA. (from RefSeq NM_001297595) ENST00000248054.1 ENST00000248054.2 ENST00000248054.3 ENST00000248054.4 ENST00000248054.5 ENST00000248054.6 ENST00000248054.7 ENST00000248054.8 ENST00000248054.9 KIAA0700 NM_001297595 O75182 Q2NL91 Q68GC2 Q6P4B8 Q8TB34 Q9BSC8 SIN3B_HUMAN uc002nez.1 uc002nez.2 uc002nez.3 uc002nez.4 Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription (By similarity). Interacts with FOXK1/MNF, MXI, MAD, NCOR1 and SAP30. Interaction with SDS3 enhances the interaction with HDAC1 to form a complex. Interacts with MAD3, MAD4, MAEL, REST and SETDB1 (By similarity). Interacts with RNF220 (By similarity). Interacts with HCFC1. Nucleus (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Long; IsoId=O75182-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=O75182-2; Sequence=VSP_014186; Note=No experimental confirmation available; Name=3; IsoId=O75182-3; Sequence=VSP_014185; Note=No experimental confirmation available; Ubiquitinated by RNF220 that leads to proteasomal degradation (By similarity). Contains 3 PAH (paired amphipathic helix) domains. Sequence=BAA31675.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; negative regulation of transcription from RNA polymerase II promoter chromatin X chromosome Y chromosome XY body chromatin binding transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated histone deacetylation Sin3 complex regulation of lipid metabolic process autosome negative regulation of transcription, DNA-templated histone deacetylase activity  uc002nez.1 uc002nez.2 uc002nez.3 uc002nez.4 
ENST00000248070.10 EPS15L1 ENST00000248070.10 Homo sapiens epidermal growth factor receptor pathway substrate 15 like 1 (EPS15L1), transcript variant 2, mRNA. (from RefSeq NM_021235) B4DKA3 ENST00000248070.1 ENST00000248070.2 ENST00000248070.3 ENST00000248070.4 ENST00000248070.5 ENST00000248070.6 ENST00000248070.7 ENST00000248070.8 ENST00000248070.9 EP15R_HUMAN EPS15R NM_021235 Q9UBC2 uc002ndz.1 uc002ndz.2 uc002ndz.3 Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo but not TFR seems to require association with DAB2. Interacts with EPS15, AGFG1/HRB and AGFG2/HRBL. Associates with the clathrin-associated adapter protein complex 2 (AP-2) (By similarity). Interacts with FCHO1. Interacts with FCHO2. Interacts (via EH domains) with DAB2. Cell membrane; Peripheral membrane protein (By similarity). Nucleus (By similarity). Membrane, coated pit (By similarity). Note=Localized to plasma membrane coated pits (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UBC2-1; Sequence=Displayed; Name=2; IsoId=Q9UBC2-2; Sequence=VSP_042200; Phosphorylated on tyrosine residues by EGFR (By similarity). Contains 1 EF-hand domain. Contains 3 EH domains. Studies in clathrin-mediated endocytosis used a siRNA mixture of EPS15 and EPS15L1 (PubMed:22648170). calcium ion binding protein binding nucleus cytosol plasma membrane clathrin-coated pit endocytosis membrane clathrin coat of coated pit negative regulation of epidermal growth factor receptor signaling pathway cadherin binding metal ion binding membrane organization  uc002ndz.1 uc002ndz.2 uc002ndz.3 
ENST00000248071.6 KLF2 ENST00000248071.6 Homo sapiens Kruppel like factor 2 (KLF2), mRNA. (from RefSeq NM_016270) ENST00000248071.1 ENST00000248071.2 ENST00000248071.3 ENST00000248071.4 ENST00000248071.5 KLF2_HUMAN LKLF NM_016270 Q6IPC4 Q9UJS5 Q9UKR6 Q9Y5W3 uc002ndw.1 uc002ndw.2 uc002ndw.3 uc002ndw.4 uc002ndw.5 This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK225820.1, BC071983.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248071.6/ ENSP00000248071.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the CACCC box in the beta-globin gene promoter and activates transcription (By similarity). Interacts with WWP1. Nucleus (By similarity). Ubiquitinated. Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein (By similarity). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/klf2/"; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin cell morphogenesis RNA polymerase II transcription factor activity, sequence-specific DNA binding in utero embryonic development nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter negative regulation of interleukin-6 production erythrocyte homeostasis response to laminar fluid shear stress multicellular organism growth positive regulation of transcription from RNA polymerase II promoter in response to stress regulation of gene expression, epigenetic erythrocyte maturation positive regulation of nitric oxide biosynthetic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of protein metabolic process Type I pneumocyte differentiation cellular response to hydrogen peroxide cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to organic cyclic compound cellular response to cycloheximide cellular response to fluid shear stress cellular response to laminar fluid shear stress cellular stress response to acid chemical cellular response to peptide negative regulation of sprouting angiogenesis  uc002ndw.1 uc002ndw.2 uc002ndw.3 uc002ndw.4 uc002ndw.5 
ENST00000248072.3 OR7C2 ENST00000248072.3 Homo sapiens olfactory receptor family 7 subfamily C member 2 (OR7C2), mRNA. (from RefSeq NM_012377) ENST00000248072.1 ENST00000248072.2 NM_012377 O43881 O60412 OR7C2_HUMAN OR7C3 Q6IFP9 uc010xoc.1 uc010xoc.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC110063.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248072.3/ ENSP00000248072.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Sequence=DAA04611.1; Type=Erroneous initiation; Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR7C2"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc010xoc.1 uc010xoc.2 
ENST00000248073.2 OR7C1 ENST00000248073.2 Homo sapiens olfactory receptor family 7 subfamily C member 1 (OR7C1), transcript variant 2, mRNA. (from RefSeq NM_198944) ENST00000248073.1 NM_198944 O76099 OR7C1_HUMAN OR7C4 Q15621 Q6IFP2 Q96R94 uc010xnz.1 uc010xnz.2 uc010xnz.3 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR7C1"; G-protein coupled receptor activity olfactory receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway spermatogenesis sensory perception of smell membrane integral component of membrane response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc010xnz.1 uc010xnz.2 uc010xnz.3 
ENST00000248076.4 F2RL3 ENST00000248076.4 Homo sapiens F2R like thrombin or trypsin receptor 3 (F2RL3), mRNA. (from RefSeq NM_003950) ENST00000248076.1 ENST00000248076.2 ENST00000248076.3 NM_003950 O76067 PAR4 PAR4_HUMAN Q6DK42 Q96RI0 uc002nfa.1 uc002nfa.2 uc002nfa.3 uc002nfa.4 uc002nfa.5 This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DRR138516.858413.1, AF080214.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248076.4/ ENSP00000248076.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for activated thrombin or trypsin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation. Cell membrane; Multi-pass membrane protein. Widely expressed, with highest levels in lung, pancreas, thyroid, testis and small intestine. Not expressed in brain, kidney, spinal cord and peripheral blood leukocytes. Also detected in platelets. A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand. Belongs to the G-protein coupled receptor 1 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f2rl3/"; G-protein coupled receptor activity extracellular region plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway blood coagulation hemostasis response to wounding thrombin-activated receptor activity membrane integral component of membrane platelet activation positive regulation of Rho protein signal transduction positive regulation of release of sequestered calcium ion into cytosol positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway platelet dense granule organization thrombin-activated receptor signaling pathway  uc002nfa.1 uc002nfa.2 uc002nfa.3 uc002nfa.4 uc002nfa.5 
ENST00000248089.8 HCFC1R1 ENST00000248089.8 Homo sapiens host cell factor C1 regulator 1 (HCFC1R1), transcript variant 1, mRNA. (from RefSeq NM_017885) D3DUA7 ENST00000248089.1 ENST00000248089.2 ENST00000248089.3 ENST00000248089.4 ENST00000248089.5 ENST00000248089.6 ENST00000248089.7 HPIP HPIP_HUMAN NM_017885 Q68EN7 Q9NWW0 uc002csy.1 uc002csy.2 uc002csy.3 uc002csy.4 Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus. Interacts with HCFC1. Cytoplasm. Nucleus. Note=Shuttles between the nucleus and cytoplasm in a CRM1-dependent manner. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NWW0-1; Sequence=Displayed; Name=2; IsoId=Q9NWW0-2; Sequence=VSP_034082; Widely expressed. nucleus nucleoplasm cytoplasm  uc002csy.1 uc002csy.2 uc002csy.3 uc002csy.4 
ENST00000248098.8 JPT2 ENST00000248098.8 Homo sapiens Jupiter microtubule associated homolog 2 (JPT2), mRNA. (from RefSeq NM_144570) B1AJY2 C16orf34 ENST00000248098.1 ENST00000248098.2 ENST00000248098.3 ENST00000248098.4 ENST00000248098.5 ENST00000248098.6 ENST00000248098.7 HN1L HN1L_HUMAN L11 NM_144570 Q6EIC7 Q9H910 uc002cmg.1 uc002cmg.2 uc002cmg.3 uc002cmg.4 uc002cmg.5 Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=HN1LA; IsoId=Q9H910-1; Sequence=Displayed; Name=2; Synonyms=HN1LB, HN1LC; IsoId=Q9H910-2; Sequence=VSP_014706; Expressed in liver, kidney, prostate, testis and uterus. Up-regulated in squamous cell carcinoma (SCC) adenocarcinoma (AC), adenosquamous cell carcinoma (ASCC), bronchioalveolar carcinoma (BAC), breast and uterus tumors. Belongs to the HN1 family. nucleus cytoplasm cytosol plasma membrane  uc002cmg.1 uc002cmg.2 uc002cmg.3 uc002cmg.4 uc002cmg.5 
ENST00000248104.11 UNKL ENST00000248104.11 Homo sapiens unk like zinc finger (UNKL), transcript variant 5, mRNA. (from RefSeq NM_001276414) B0QYN6 B1GXI8 C16orf28 ENST00000248104.1 ENST00000248104.10 ENST00000248104.2 ENST00000248104.3 ENST00000248104.4 ENST00000248104.5 ENST00000248104.6 ENST00000248104.7 ENST00000248104.8 ENST00000248104.9 NM_001276414 Q96EV1 Q96RZ1 Q9BWL5 Q9H5K0 Q9H9P5 Q9UJJ8 UNKL_HUMAN ZC3H5L ZC3HDC5L uc002clo.1 uc002clo.2 uc002clo.3 This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: BC000150.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2159764, SAMN01820693 [ECO:0000348] ##Evidence-Data-END## May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven. Protein modification; protein ubiquitination. Isoform 4 (C-terminal) interacts with the GTP-bound form of RAC1. Isoform 4 (C-terminal) interacts with SMARCD2/BAF60b. Isoform 4: Cytoplasm. Nucleus. Note=Isoform 4 is primarily localized in the cytoplasm but has the ability to shuttle between the nucleus and the cytoplasm. Event=Alternative splicing; Named isoforms=6; Name=4; IsoId=Q9H9P5-4; Sequence=Displayed; Name=1; IsoId=Q9H9P5-1; Sequence=VSP_039433, VSP_039443; Name=2; IsoId=Q9H9P5-2; Sequence=VSP_039433; Name=3; IsoId=Q9H9P5-3; Sequence=VSP_039432, VSP_039441, VSP_039443; Name=5; IsoId=Q9H9P5-5; Sequence=VSP_039436, VSP_039437; Name=6; IsoId=Q9H9P5-6; Sequence=VSP_039434, VSP_039435, VSP_039438, VSP_039439, VSP_039440, VSP_039442; Note=No experimental confirmation available; Although this protein contains a RING domain, intrinsic E3 ligase activity has not been proven (PubMed:20148946). Isoform 4 is ubiquitinated in the C-terminal. Ubiquitination is enhanced by activated RAC1. The presence of the RING finger domain is not essential for ubiquitination to occur. Belongs to the unkempt family. Contains 4 C3H1-type zinc fingers. Contains 1 RING-type zinc finger. Was termed (PubMed:20148946) Unkempt. protein polyubiquitination protein binding nucleus cytoplasm cytosol protein ubiquitination transferase activity metal ion binding  uc002clo.1 uc002clo.2 uc002clo.3 
ENST00000248114.7 GFER ENST00000248114.7 Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA. (from RefSeq NM_005262) ALR ALR_HUMAN ENST00000248114.1 ENST00000248114.2 ENST00000248114.3 ENST00000248114.4 ENST00000248114.5 ENST00000248114.6 HERV1 HPO NM_005262 P55789 Q53YM6 Q8TAH6 Q9H290 Q9UK40 uc002cob.1 uc002cob.2 uc002cob.3 uc002cob.4 uc002cob.5 The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC002429.1, SRR3476690.738756.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248114.7/ ENSP00000248114.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs. Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration. 2 R'C(R)SH + O(2) = R'C(R)S-S(R)CR' + H(2)O(2). FAD. Homodimer; disulfide-linked. May form heterodimers of isoform 1 and isoform 2. Isoform 1: Mitochondrion intermembrane space. Isoform 2: Cytoplasm. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=HPO-205, lfALR; IsoId=P55789-1; Sequence=Displayed; Name=2; Synonyms=HPO-125, sfALR; IsoId=P55789-2; Sequence=VSP_040393; Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]; also called combined mitochondrial complex deficiency. Contains 1 ERV/ALR sulfhydryl oxidase domain. Sequence=AAA96390.2; Type=Frameshift; Positions=70; Sequence=AAD36986.1; Type=Erroneous initiation; Sequence=AAD56538.1; Type=Erroneous initiation; Sequence=AAH02429.1; Type=Erroneous initiation; Sequence=AAH28348.2; Type=Erroneous initiation; protein binding extracellular region cytoplasm mitochondrion mitochondrial intermembrane space cytosol signal transduction growth factor activity protein disulfide oxidoreductase activity oxidoreductase activity flavin-linked sulfhydryl oxidase activity thiol oxidase activity flavin adenine dinucleotide binding oxidation-reduction process  uc002cob.1 uc002cob.2 uc002cob.3 uc002cob.4 uc002cob.5 
ENST00000248121.7 SYNGR3 ENST00000248121.7 Homo sapiens synaptogyrin 3 (SYNGR3), mRNA. (from RefSeq NM_004209) B2R9S0 ENST00000248121.1 ENST00000248121.2 ENST00000248121.3 ENST00000248121.4 ENST00000248121.5 ENST00000248121.6 NM_004209 O43761 SNG3_HUMAN uc002cod.1 uc002cod.2 uc002cod.3 uc002cod.4 This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]. ##Evidence-Data-START## Transcript exon combination :: BC014087.2, SRR1803611.203285.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248121.7/ ENSP00000248121.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in the positive regulation of dopamine transporter activity. Probably facilitates the physical and functional interactions of the transporter with the dopamine vesicular storage system, allowing a more efficient loading of the vesicles with extracellular dopamine after release (By similarity). Interacts (via N-terminus) with SLC6A3 (via N-terminus) (By similarity). Membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle (By similarity). Cell junction, synapse. Note=Found at the neuromuscular synapses (By similarity). Expressed in brain and placenta. Belongs to the synaptogyrin family. Contains 1 MARVEL domain. neurotransmitter uptake synaptic vesicle membrane integral component of membrane substantia nigra development cell junction synaptic vesicle membrane cytoplasmic vesicle neuromuscular junction positive regulation of transporter activity SH2 domain binding regulated exocytosis synapse protein N-terminus binding  uc002cod.1 uc002cod.2 uc002cod.3 uc002cod.4 
ENST00000248139.8 RAB40C ENST00000248139.8 Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 2, mRNA. (from RefSeq NM_021168) A2IDE2 D3DU54 ENST00000248139.1 ENST00000248139.2 ENST00000248139.3 ENST00000248139.4 ENST00000248139.5 ENST00000248139.6 ENST00000248139.7 NM_021168 O60795 Q4TT41 Q96S21 RARL RASL8C RB40C_HUMAN uc002chr.1 uc002chr.2 uc002chr.3 uc002chr.4 uc002chr.5 Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Protein modification; protein ubiquitination. Component of the probable SCF-like ECS(RAB40C) E3 ubiquitin-protein ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and RAB40C. Interacts with CUL5, RNF7, TCEB1 and TCEB2. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity). Belongs to the small GTPase superfamily. Rab family. Contains 1 SOCS box domain. nucleotide binding GTPase activity GTP binding endosome plasma membrane intracellular protein transport synaptic vesicle membrane protein ubiquitination GDP binding Rab protein signal transduction intracellular signal transduction perinuclear region of cytoplasm protein localization to plasma membrane  uc002chr.1 uc002chr.2 uc002chr.3 uc002chr.4 uc002chr.5 
ENST00000248142.7 WDR24 ENST00000248142.7 WD repeat domain 24 (from HGNC WDR24) A0A499FJD3 AL136863 ENST00000248142.1 ENST00000248142.2 ENST00000248142.3 ENST00000248142.4 ENST00000248142.5 ENST00000248142.6 uc059opk.1  uc059opk.1 
ENST00000248150.5 GNG13 ENST00000248150.5 Homo sapiens G protein subunit gamma 13 (GNG13), mRNA. (from RefSeq NM_016541) B2R5C8 ENST00000248150.1 ENST00000248150.2 ENST00000248150.3 ENST00000248150.4 GBG13_HUMAN NM_016541 Q52LX0 Q9P2W3 Q9UJJ3 uc002ckh.1 uc002ckh.2 uc002ckh.3 uc002ckh.4 uc002ckh.5 Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB030207.1, SRR3476690.1027708.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248150.5/ ENSP00000248150.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Belongs to the G protein gamma family. GTPase activity heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway membrane dendrite G-protein beta-subunit binding sensory perception of taste  uc002ckh.1 uc002ckh.2 uc002ckh.3 uc002ckh.4 uc002ckh.5 
ENST00000248151.4 TUBBP1 ENST00000248151.4 tubulin beta pseudogene 1 (from HGNC TUBBP1) ENST00000248151.1 ENST00000248151.2 ENST00000248151.3 LF341321 uc287cag.1  uc287cag.1 
ENST00000248211.11 ZNF10 ENST00000248211.11 Homo sapiens zinc finger protein 10 (ZNF10), mRNA. (from RefSeq NM_015394) B2RBS1 ENST00000248211.1 ENST00000248211.10 ENST00000248211.2 ENST00000248211.3 ENST00000248211.4 ENST00000248211.5 ENST00000248211.6 ENST00000248211.7 ENST00000248211.8 ENST00000248211.9 KOX1 NM_015394 P21506 Q8TC91 ZNF10_HUMAN uc001ulq.1 uc001ulq.2 uc001ulq.3 uc001ulq.4 uc001ulq.5 The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC024182.2, SRR1660805.254984.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248211.11/ ENSP00000248211.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in transcriptional regulation. Nucleus (Probable). Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 11 C2H2-type zinc fingers. Contains 1 KRAB domain. nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding metal ion binding  uc001ulq.1 uc001ulq.2 uc001ulq.3 uc001ulq.4 uc001ulq.5 
ENST00000248244.6 TICAM1 ENST00000248244.6 Homo sapiens toll like receptor adaptor molecule 1 (TICAM1), transcript variant 1, mRNA. (from RefSeq NM_182919) B3Y691 ENST00000248244.1 ENST00000248244.2 ENST00000248244.3 ENST00000248244.4 ENST00000248244.5 NM_182919 O75532 PRVTIRB Q86XP8 Q8IUC6 Q96GA0 TCAM1_HUMAN TRIF uc002mbi.1 uc002mbi.2 uc002mbi.3 uc002mbi.4 uc002mbi.5 uc002mbi.6 This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC035331.1, DRR138522.147854.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in innate immunity against invading pathogens. Adapter used by TLR3 and TLR4 (through TICAM2) to mediate NF- kappa-B and interferon-regulatory factor (IRF) activation, and to induce apoptosis. Ligand binding to these receptors results in TRIF recruitment through its TIR domain. Distinct protein- interaction motifs allow recruitment of the effector proteins TBK1, TRAF6 and RIPK1, which in turn, lead to the activation of transcription factors IRF3 and IRF7, NF-kappa-B and FADD respectively. Homodimer (Probable). Interacts with the TIR domain of TLR3. Interacts with AZI2, TBK1, IRF3 and IRF7. Interacts with TICAM2 in TLR4 recruitment. Interaction with PIAS4 inhibits the TICAM1-induced NF-kappa-B, IRF and IFNB1 activation. Interacts with IKBKB and IKBKE. Interaction with SARM1 blocks TICAM1- dependent transcription factor activation. Interacts with TRAF3 (By similarity). Interacts with TRAF6. Interacts with TRAFD1 (By similarity). Ubiquitously expressed but with higher levels in liver. The N-terminal region is essential for activation of the IFNB promoter activity. Phosphorylated by TBK1. Contains 1 TIR domain. Sequence=AAO85488.1; Type=Frameshift; Positions=141, 148, 161; macrophage activation involved in immune response immune system process positive regulation of myeloid dendritic cell cytokine production MyD88-independent toll-like receptor signaling pathway protein binding cytoplasm mitochondrion autophagosome cytosol apoptotic process inflammatory response I-kappaB kinase/NF-kappaB signaling endosome membrane positive regulation of autophagy positive regulation of gene expression viral process protein kinase binding positive regulation of B cell proliferation positive regulation of protein ubiquitination cytoplasmic vesicle lipopolysaccharide-mediated signaling pathway positive regulation of protein binding positive regulation of type I interferon production response to lipopolysaccharide positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of natural killer cell activation negative regulation of MyD88-independent toll-like receptor signaling pathway toll-like receptor 3 signaling pathway TRIF-dependent toll-like receptor signaling pathway positive regulation of I-kappaB kinase/NF-kappaB signaling regulation of protein complex assembly response to exogenous dsRNA positive regulation of chemokine biosynthetic process innate immune response positive regulation of interferon-beta biosynthetic process positive regulation of nitric oxide biosynthetic process positive regulation of B cell activation positive regulation of NF-kappaB transcription factor activity defense response to virus necroptotic process cellular response to lipopolysaccharide apoptotic signaling pathway ripoptosome positive regulation of cytokine production involved in inflammatory response  uc002mbi.1 uc002mbi.2 uc002mbi.3 uc002mbi.4 uc002mbi.5 uc002mbi.6 
ENST00000248248.8 MON1B ENST00000248248.8 Homo sapiens MON1 homolog B, secretory trafficking associated (MON1B), transcript variant 1, mRNA. (from RefSeq NM_014940) ENST00000248248.1 ENST00000248248.2 ENST00000248248.3 ENST00000248248.4 ENST00000248248.5 ENST00000248248.6 ENST00000248248.7 HSRG1 KIAA0872 MON1B_HUMAN NM_014940 O94949 Q7L1V2 SAND2 uc002fez.1 uc002fez.2 uc002fez.3 uc002fez.4 uc002fez.5 uc002fez.6 Q9P253:VPS18; NbExp=2; IntAct=EBI-2655311, EBI-1053363; Induced in fibroblast KMB17 cells by HSV-1. Belongs to the MON1/SAND family. protein binding cytoplasm protein targeting to vacuole early viral transcription late viral transcription Mon1-Ccz1 complex  uc002fez.1 uc002fez.2 uc002fez.3 uc002fez.4 uc002fez.5 uc002fez.6 
ENST00000248306.8 METTL25 ENST00000248306.8 Homo sapiens methyltransferase like 25 (METTL25), transcript variant 7, non-coding RNA. (from RefSeq NR_144943) C12orf26 ENST00000248306.1 ENST00000248306.2 ENST00000248306.3 ENST00000248306.4 ENST00000248306.5 ENST00000248306.6 ENST00000248306.7 MET25_HUMAN NR_144943 Q8N6Q8 Q9H5Y3 uc001szq.1 uc001szq.2 uc001szq.3 uc001szq.4 uc001szq.5 Putative methyltransferase (By similarity). Sequence=BAB15484.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; methyltransferase activity transferase activity methylation  uc001szq.1 uc001szq.2 uc001szq.3 uc001szq.4 uc001szq.5 
ENST00000248342.9 EIF3K ENST00000248342.9 Homo sapiens eukaryotic translation initiation factor 3 subunit K (EIF3K), transcript variant 1, mRNA. (from RefSeq NM_013234) A8K0I9 ARG134 EIF3K_HUMAN EIF3S12 ENST00000248342.1 ENST00000248342.2 ENST00000248342.3 ENST00000248342.4 ENST00000248342.5 ENST00000248342.6 ENST00000248342.7 ENST00000248342.8 HSPC029 MSTP001 NM_013234 PTD001 Q96IQ0 Q9UBQ5 Q9Y6D1 uc002oiz.1 uc002oiz.2 uc002oiz.3 The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S preinitiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with CCND3, but not with CCND1 and CCND2. Q9Q2G4:ORF (xeno); NbExp=5; IntAct=EBI-354344, EBI-6248094; Nucleus. Cytoplasm. Ubiquitous, with the highest levels of expression in brain, testis and kidney. Mass=24970.6; Method=Unknown; Range=1-218; Source=PubMed:17322308; Mass=24971.1; Mass_error=0.2; Method=MALDI; Range=1-218; Source=PubMed:18599441; Belongs to the eIF-3 subunit K family. formation of cytoplasmic translation initiation complex cytoplasmic translational initiation RNA binding translation initiation factor activity protein binding nucleus cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation regulation of translational initiation membrane eukaryotic 43S preinitiation complex eukaryotic 48S preinitiation complex ribosome binding  uc002oiz.1 uc002oiz.2 uc002oiz.3 
ENST00000248378.6 EMC6 ENST00000248378.6 Homo sapiens ER membrane protein complex subunit 6 (EMC6), transcript variant 2, mRNA. (from RefSeq NM_031298) EMC6_HUMAN ENST00000248378.1 ENST00000248378.2 ENST00000248378.3 ENST00000248378.4 ENST00000248378.5 NM_031298 Q9BV81 TMEM93 uc002fwf.1 uc002fwf.2 uc002fwf.3 uc002fwf.4 Component of the ER membrane protein complex (EMC). Membrane; Multi-pass membrane protein. Belongs to the EMC6 family. autophagosome assembly protein binding endoplasmic reticulum membrane integral component of membrane integral component of endoplasmic reticulum membrane ER membrane protein complex integral component of omegasome membrane  uc002fwf.1 uc002fwf.2 uc002fwf.3 uc002fwf.4 
ENST00000248384.1 OR1E2 ENST00000248384.1 Homo sapiens olfactory receptor family 1 subfamily E member 2 (OR1E2), mRNA. (from RefSeq NM_003554) NM_003554 O43877 O95632 OR1E2_HUMAN OR1E4 P47887 Q0VAD5 Q0VAD6 Q9UL13 uc010vre.1 uc010vre.2 Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC121105.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248384.1/ ENSP00000248384.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Odorant receptor (Potential). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. Name=Human Olfactory Receptor Data Exploratorium (HORDE); URL="http://bip.weizmann.ac.il/cgi-bin/HORDE/showGene.pl?key=symbol&value=OR1E2"; G-protein coupled receptor activity olfactory receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway sensory perception of chemical stimulus sensory perception of smell membrane integral component of membrane signaling receptor activity response to stimulus detection of chemical stimulus involved in sensory perception of smell  uc010vre.1 uc010vre.2 
ENST00000248420.9 CACTIN ENST00000248420.9 Homo sapiens cactin, spliceosome C complex subunit (CACTIN), transcript variant 2, mRNA. (from RefSeq NM_021231) A6NNA9 A9UL12 C19orf29 CATIN_HUMAN ENST00000248420.1 ENST00000248420.2 ENST00000248420.3 ENST00000248420.4 ENST00000248420.5 ENST00000248420.6 ENST00000248420.7 ENST00000248420.8 NM_021231 O75229 Q7LE08 Q8WUQ7 Q9BTA6 Q9Y5A4 uc002lyi.1 uc002lyi.2 uc002lyi.3 uc002lyi.4 uc002lyi.5 Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon- regulatory factor (IRF) signaling pathways. Contributes to the regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli. May play a role during early embryonic development. Probably involved in pre-mRNA splicing. Interacts (via N-terminus domain) with NFKBIL1; the interaction occurs in a proinflammatory-independent manner. Does not interact with RELA NF-kappa-B subunit. Identified in the spliceosome C complex. Nucleus. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with NFKBIL1 in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8WUQ7-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; Name=2; IsoId=Q8WUQ7-2; Sequence=VSP_017856; Note=No experimental confirmation available; Antigen recognized by autologous antibody in patients with renal-cell carcinoma. Belongs to the CACTIN family. An ORF (C19orf029 OS) has been described in the opposite strand of the C-terminus of this gene. Sequence=AAC24305.1; Type=Erroneous gene model prediction; Sequence=AAC32903.1; Type=Erroneous gene model prediction; Sequence=AAD42868.1; Type=Frameshift; Positions=711; Sequence=AAH04262.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW69298.1; Type=Erroneous gene model prediction; mRNA splicing, via spliceosome negative regulation of protein phosphorylation immune system process RNA binding protein binding nucleus nucleoplasm spliceosomal complex cytosol mRNA processing multicellular organism development RNA splicing nuclear speck negative regulation of lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity negative regulation of interferon-beta production negative regulation of interleukin-8 production negative regulation of tumor necrosis factor production negative regulation of toll-like receptor signaling pathway innate immune response negative regulation of type I interferon-mediated signaling pathway catalytic step 2 spliceosome cellular response to lipopolysaccharide cellular response to interleukin-1 cellular response to tumor necrosis factor  uc002lyi.1 uc002lyi.2 uc002lyi.3 uc002lyi.4 uc002lyi.5 
ENST00000248437.9 TUBA4A ENST00000248437.9 Homo sapiens tubulin alpha 4a (TUBA4A), transcript variant 1, mRNA. (from RefSeq NM_006000) B3KNQ6 ENST00000248437.1 ENST00000248437.2 ENST00000248437.3 ENST00000248437.4 ENST00000248437.5 ENST00000248437.6 ENST00000248437.7 ENST00000248437.8 NM_006000 P05215 P68366 TBA4A_HUMAN TUBA1 uc002vkt.1 uc002vkt.2 uc002vkt.3 uc002vkt.4 Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]. Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha-chain. Dimer of alpha and beta chains. Cytoplasm, cytoskeleton. Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable). Acetylation of alpha-tubulins at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle progression or cell differentiation to intracellular trafficking and signaling (By similarity). This tubulin does not have a C-terminal tyrosine. Belongs to the tubulin family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tuba1/"; Name=Wikipedia; Note=Tubulin entry; URL="http://en.wikipedia.org/wiki/Tubulin"; G2/M transition of mitotic cell cycle nucleotide binding microtubule cytoskeleton organization mitotic cell cycle platelet degranulation GTPase activity structural constituent of cytoskeleton protein binding GTP binding extracellular region cytoplasm cytosol cytoskeleton microtubule microtubule-based process regulation of G2/M transition of mitotic cell cycle microtubule cytoskeleton enzyme binding protein kinase binding extracellular exosome ciliary basal body docking  uc002vkt.1 uc002vkt.2 uc002vkt.3 uc002vkt.4 
ENST00000248444.10 VIL1 ENST00000248444.10 Homo sapiens villin 1 (VIL1), mRNA. (from RefSeq NM_007127) B2R9A7 ENST00000248444.1 ENST00000248444.2 ENST00000248444.3 ENST00000248444.4 ENST00000248444.5 ENST00000248444.6 ENST00000248444.7 ENST00000248444.8 ENST00000248444.9 NM_007127 P09327 VIL VILI_HUMAN uc002via.1 uc002via.2 uc002via.3 uc002via.4 uc002via.5 This gene encodes a member of a family of calcium-regulated actin-binding proteins. This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments. Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK313709.1, AK223398.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248444.10/ ENSP00000248444.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Epithelial cell-specific Ca(2+)-regulated actin- modifying protein that modulates the reorganization of microvillar actin filaments. Plays a role in the actin nucleation, actin filament bundle assembly, actin filament capping and severing. Binds phosphatidylinositol 4,5-bisphosphate (PIP2) and lysophosphatidic acid (LPA); binds LPA with higher affinity than PIP2. Binding to LPA increases its phosphorylation by SRC and inhibits all actin-modifying activities. Binding to PIP2 inhibits actin-capping and -severing activities but enhances actin-bundling activity. Regulates the intestinal epithelial cell morphology, cell invasion, cell migration and apoptosis. Protects against apoptosis induced by dextran sodium sulfate (DSS) in the gastrointestinal epithelium. Appears to regulate cell death by maintaining mitochondrial integrity. Enhances hepatocyte growth factor (HGF)-induced epithelial cell motility, chemotaxis and wound repair. Upon S.flexneri cell infection, its actin-severing activity enhances actin-based motility of the bacteria and plays a role during the dissemination. Monomer. Homodimer; homodimerization is necessary for actin-bundling. Associates with F-actin; phosphorylation at tyrosines residues decreases the association with F-actin. Interacts (phosphorylated at C-terminus tyrosine phosphorylation sites) with PLCG1 (via the SH2 domains). Interacts (phosphorylated form) with PLCG1; the interaction is enhanced by hepatocyte growth factor (HGF) (By similarity). Self; NbExp=9; IntAct=EBI-1047253, EBI-1047253; P19174:PLCG1; NbExp=5; IntAct=EBI-1047253, EBI-79387; Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, ruffle. Cell projection, microvillus. Cell projection, filopodium tip (By similarity). Cell projection, filopodium (By similarity). Note=Relocalized in the tip of cellular protrusions and filipodial extensions upon infection with S.flexneri in primary intestinal epithelial cells (IEC) and in the tail-like structures forming the actin comets of S.flexneri. Redistributed to the leading edge of hepatocyte growth factor (HGF)-induced lamellipodia (By similarity). Rapidly redistributed to ruffles and lamellipodia structures in response to autotaxin, lysophosphatidic acid (LPA) and epidermal growth factor (EGF) treatment. Specifically expressed in epithelial cells. Major component of microvilli of intestinal epithelial cells and kidney proximal tubule cells. Expressed in canalicular microvilli of hepatocytes (at protein level). Consists of a large core fragment in the N-terminal portion and a small headpiece (HP) in the C-terminal portion. The core fragment is necessary for both actin-nucleating and -severing activities, whereas the HP binds F-actin strongly in both the presence and absence of calcium and is necessary in actin-bundling activity. The Gelsolin-like 1 repeat is necessary for the actin- capping activity. The entire core fragment is necessary for the actin-severing activity. Two major calcium-sensitive sites are involved in conformational changes and determine separate functional properties: the first site (Glu-25, Asp-44 and Glu-74) regulates the actin-capping and actin-severing activities; while the second site (Asp-61, Asp-86 and Ala-93) regulates only the actin-severing activity. Tyrosine phosphorylation is induced by epidermal growth factor (EGF) and stimulates cell migration (By similarity). Phosphorylated on tyrosine residues by SRC. The unphosphorylated form increases the initial rate of actin-nucleating activity, whereas the tyrosine-phosphorlyated form inhibits actin-nucleating activity, enhances actin-bundling activity and enhances actin- severing activity by reducing high Ca(2+) requirements. The tyrosine-phosphorlyated form does not regulate actin-capping activity. Tyrosine phosphorylation is essential for cell migration: tyrosine phosphorylation sites in the N-terminus half regulate actin reorganization and cell morphology, whereas tyrosine phosphorylation sites in the C-terminus half regulate cell migration via interaction with PLCG1. Note=Biliary atresia is a chronic and progressive cholestatic liver disease of chilhood characterized by an abnormal villin gene expression and severe malformation of canalicular microvillus structure. Belongs to the villin/gelsolin family. Contains 6 gelsolin-like repeats. Contains 1 HP (headpiece) domain. ruffle intestinal D-glucose absorption actin binding calcium ion binding protein binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm cytoskeleton plasma membrane microvillus brush border apoptotic process cytoskeleton organization epidermal growth factor receptor signaling pathway regulation of cell shape response to bacterium positive regulation of epithelial cell migration lamellipodium actin filament polymerization actin filament depolymerization filopodium positive regulation of cell migration positive regulation of actin filament depolymerization epithelial cell differentiation positive regulation of actin filament bundle assembly actin filament bundle filopodium tip regulation of microvillus length lysophosphatidic acid binding cellular response to hepatocyte growth factor stimulus positive regulation of multicellular organism growth identical protein binding protein homodimerization activity cell projection cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process actin nucleation actin filament severing actin filament binding barbed-end actin filament capping regulation of actin nucleation actin filament capping cytoplasmic actin-based contraction involved in cell motility regulation of wound healing macromolecular complex assembly extracellular exosome cellular response to epidermal growth factor stimulus terminal web assembly positive regulation of protein localization to plasma membrane regulation of lamellipodium morphogenesis positive regulation of lamellipodium morphogenesis  uc002via.1 uc002via.2 uc002via.3 uc002via.4 uc002via.5 
ENST00000248450.9 AAMP ENST00000248450.9 Homo sapiens angio associated migratory cell protein (AAMP), transcript variant 2, mRNA. (from RefSeq NM_001087) AAMP_HUMAN ENST00000248450.1 ENST00000248450.2 ENST00000248450.3 ENST00000248450.4 ENST00000248450.5 ENST00000248450.6 ENST00000248450.7 ENST00000248450.8 NM_001087 Q13685 Q8WUJ9 Q96H92 uc002vhk.1 uc002vhk.2 uc002vhk.3 uc002vhk.4 uc002vhk.5 The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration of endothelial cells. It may also regulate smooth muscle cell migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive cell adhesion. [provided by RefSeq, Oct 2014]. Plays a role in angiogenesis and cell migration. In smooth muscle cell migration, may act through the RhoA pathway. Cell membrane. Cytoplasm. Expressed in metastatic melanoma, liver, skin, kidney, heart, lung, lymph node, skeletal muscle and brain, and also in A2058 melanoma cells and activated T-cells (at protein level). Expressed in blood vessels. Strongly expressed in endothelial cells, cytotrophoblasts, and poorly differentiated. colon adenocarcinoma cells found in lymphatics. Contains 8 WD repeats. Sequence=AAA68889.1; Type=Erroneous initiation; Sequence=CAG33036.1; Type=Erroneous initiation; angiogenesis protein binding cytoplasm cytosol plasma membrane multicellular organism development heparin binding cell surface positive regulation of endothelial cell migration smooth muscle cell migration microtubule cytoskeleton membrane cell differentiation ribosomal large subunit biogenesis intercellular bridge unfolded protein binding  uc002vhk.1 uc002vhk.2 uc002vhk.3 uc002vhk.4 uc002vhk.5 
ENST00000248451.7 PNKD ENST00000248451.7 Homo sapiens PNKD metallo-beta-lactamase domain containing (PNKD), transcript variant 3, mRNA. (from RefSeq NM_001077399) A8K1F2 ENST00000248451.1 ENST00000248451.2 ENST00000248451.3 ENST00000248451.4 ENST00000248451.5 ENST00000248451.6 FKSG19 KIAA1184 MR1 NM_001077399 PNKD_HUMAN Q8N490 Q96A48 Q9BU26 Q9NSX4 Q9ULN6 Q9Y4T1 TAHCCP2 UNQ2491/PRO5778 uc002vhm.1 uc002vhm.2 This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa- B signaling pathway (By similarity). Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3. Isoform 1: Membrane; Peripheral membrane protein. Isoform 2: Cytoplasm. Nucleus. Isoform 3: Mitochondrion. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=MR-1L; IsoId=Q8N490-1; Sequence=Displayed; Name=2; Synonyms=MR-1S; IsoId=Q8N490-2; Sequence=VSP_027739, VSP_027740; Note=Phosphorylated on Ser-121; Name=3; Synonyms=MR-1M; IsoId=Q8N490-3; Sequence=VSP_027736; Name=4; IsoId=Q8N490-4; Sequence=VSP_027737, VSP_027738; Note=No experimental confirmation available; Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only. By Hepatitis C virus core protein. Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR. Defects in PNKD are the cause of dystonia type 8 (DYT8) [MIM:118800]. DYT8 is a paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PNKD"; hydroxyacylglutathione hydrolase activity protein binding nucleus cytoplasm mitochondrion membrane hydrolase activity methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione regulation of synaptic transmission, dopaminergic regulation of dopamine metabolic process metal ion binding negative regulation of neurotransmitter secretion neuromuscular process controlling posture  uc002vhm.1 uc002vhm.2 
ENST00000248484.9 TNFRSF19 ENST00000248484.9 Homo sapiens TNF receptor superfamily member 19 (TNFRSF19), transcript variant 2, mRNA. (from RefSeq NM_148957) B1AM40 B1AM41 ENST00000248484.1 ENST00000248484.2 ENST00000248484.3 ENST00000248484.4 ENST00000248484.5 ENST00000248484.6 ENST00000248484.7 ENST00000248484.8 NM_148957 Q9BXZ9 Q9BY00 Q9NS68 Q9NZV2 TAJ TNR19_HUMAN TROY UNQ1888/PRO4333 uc001uot.1 uc001uot.2 uc001uot.3 uc001uot.4 uc001uot.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]. Can mediate activation of JNK and NF-kappa-B. May promote caspase-independent cell death. Associates with TRAF1, TRAF2, TRAF3 and TRAF5. Interacts with LINGO1. Membrane; Single-pass type I membrane protein (Probable). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=TAJ-alpha, TRADEalpha; IsoId=Q9NS68-1; Sequence=Displayed; Name=2; Synonyms=TRADEbeta; IsoId=Q9NS68-2; Sequence=VSP_006512; Highly expressed in prostate. Detected at lower levels in thymus, spleen, testis, uterus, small intestine, colon and peripheral blood leukocytes. Contains 3 TNFR-Cys repeats. hair follicle development tumor necrosis factor-activated receptor activity protein binding plasma membrane apoptotic process JNK cascade membrane integral component of membrane tumor necrosis factor-mediated signaling pathway signaling receptor activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of JNK cascade  uc001uot.1 uc001uot.2 uc001uot.3 uc001uot.4 uc001uot.5 
ENST00000248550.7 PHTF2 ENST00000248550.7 Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 14, mRNA. (from RefSeq NM_001366089) A0JP04 A0JP05 A4D1C2 ENST00000248550.1 ENST00000248550.2 ENST00000248550.3 ENST00000248550.4 ENST00000248550.5 ENST00000248550.6 NM_001366089 PHTF2_HUMAN Q8N3S3 Q9H099 uc003ugs.1 uc003ugs.2 uc003ugs.3 uc003ugs.4 uc003ugs.5 May play a role in transcription regulation. Nucleus (Potential). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8N3S3-1; Sequence=Displayed; Name=2; IsoId=Q8N3S3-2; Sequence=VSP_031192; Name=3; IsoId=Q8N3S3-3; Sequence=VSP_031192, VSP_031193; Name=4; IsoId=Q8N3S3-4; Sequence=VSP_031192, VSP_031193, VSP_031194; DNA binding nucleus endoplasmic reticulum  uc003ugs.1 uc003ugs.2 uc003ugs.3 uc003ugs.4 uc003ugs.5 
ENST00000248553.7 HSPB1 ENST00000248553.7 Homo sapiens heat shock protein family B (small) member 1 (HSPB1), mRNA. (from RefSeq NM_001540) ENST00000248553.1 ENST00000248553.2 ENST00000248553.3 ENST00000248553.4 ENST00000248553.5 ENST00000248553.6 NM_001540 V9HW43 uc003uew.1 uc003uew.2 uc003uew.3 uc003uew.4 uc003uew.5 This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC012292.1, X54079.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248553.7/ ENSP00000248553.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##  uc003uew.1 uc003uew.2 uc003uew.3 uc003uew.4 uc003uew.5 
ENST00000248564.6 GNG11 ENST00000248564.6 Homo sapiens G protein subunit gamma 11 (GNG11), mRNA. (from RefSeq NM_004126) ENST00000248564.1 ENST00000248564.2 ENST00000248564.3 ENST00000248564.4 ENST00000248564.5 NM_004126 Q53Y01 Q53Y01_HUMAN hCG_19197 tcag7.247 uc003und.1 uc003und.2 uc003und.3 uc003und.4 uc003und.5 This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.62543.1, SRR1660803.252836.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248564.6/ ENSP00000248564.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction (By similarity). G proteins are composed of 3 units; alpha, beta and gamma (By similarity). Cell membrane; Lipid-anchor; Cytoplasmic side (By similarity). Belongs to the G protein gamma family. GTPase activity protein binding heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane  uc003und.1 uc003und.2 uc003und.3 uc003und.4 uc003und.5 
ENST00000248566.4 SEM1 ENST00000248566.4 Homo sapiens SEM1 26S proteasome complex subunit (SEM1), transcript variant 5, mRNA. (from RefSeq NM_006304) ENST00000248566.1 ENST00000248566.2 ENST00000248566.3 NM_006304 Q6IBB7 Q6IBB7_HUMAN SHFM1 hCG_2023166 tcag7.1219 uc003uoi.1 uc003uoi.2 uc003uoi.3 uc003uoi.4 uc003uoi.5 The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]. proteasome complex mRNA export from nucleus proteasome regulatory particle, lid subcomplex proteasome assembly  uc003uoi.1 uc003uoi.2 uc003uoi.3 uc003uoi.4 uc003uoi.5 
ENST00000248572.10 GNGT1 ENST00000248572.10 Homo sapiens G protein subunit gamma transducin 1 (GNGT1), transcript variant 1, mRNA. (from RefSeq NM_021955) A4D1H2 ENST00000248572.1 ENST00000248572.2 ENST00000248572.3 ENST00000248572.4 ENST00000248572.5 ENST00000248572.6 ENST00000248572.7 ENST00000248572.8 ENST00000248572.9 GBG1_HUMAN NM_021955 O43835 P63211 Q08447 Q16026 uc003unc.1 uc003unc.2 uc003unc.3 This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Retinal rod outer segment. Belongs to the G protein gamma family. photoreceptor outer segment photoreceptor inner segment GTPase activity protein binding heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway phototransduction protein localization cardiac muscle cell apoptotic process membrane rhodopsin mediated signaling pathway G-protein beta/gamma-subunit complex G-protein beta-subunit binding eye photoreceptor cell development cellular response to hypoxia photoreceptor disc membrane  uc003unc.1 uc003unc.2 uc003unc.3 
ENST00000248594.11 PTPN12 ENST00000248594.11 Homo sapiens protein tyrosine phosphatase non-receptor type 12 (PTPN12), transcript variant 1, mRNA. (from RefSeq NM_002835) ENST00000248594.1 ENST00000248594.10 ENST00000248594.2 ENST00000248594.3 ENST00000248594.4 ENST00000248594.5 ENST00000248594.6 ENST00000248594.7 ENST00000248594.8 ENST00000248594.9 NM_002835 PTN12_HUMAN Q05209 Q16130 Q59FD6 Q75MN8 Q86XU4 uc003ugh.1 uc003ugh.2 uc003ugh.3 uc003ugh.4 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. Dephosphorylates cellular tyrosine kinases, including PTK2B/PYK2, and thereby regulates signaling via PTK2B/PYK2. Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate. Interacts with TGFB1I1 (By similarity). Interacts with PSTPIP1. Interacts with PTK2B/PYK2. Interacts with LPXN (By similarity). P04626:ERBB2; NbExp=4; IntAct=EBI-2266035, EBI-641062; P09619:PDGFRB; NbExp=2; IntAct=EBI-2266035, EBI-641237; Q02763:TEK; NbExp=2; IntAct=EBI-2266035, EBI-2257090; Cytoplasm. Cell projection, podosome (By similarity). Phosphorylated by STK24/MST3 and this results in inhibition of its activity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily. Contains 1 tyrosine-protein phosphatase domain. Sequence=BAD92761.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; podosome phosphoprotein phosphatase activity protein tyrosine phosphatase activity non-membrane spanning protein tyrosine phosphatase activity protein binding nucleoplasm cytoplasm cytosol focal adhesion protein dephosphorylation dephosphorylation hydrolase activity phosphatase activity SH3 domain binding cell junction peptidyl-tyrosine dephosphorylation ERBB2 signaling pathway regulation of epidermal growth factor receptor signaling pathway tissue regeneration cell projection cellular response to cytokine stimulus cellular response to epidermal growth factor stimulus negative regulation of ERBB signaling pathway negative regulation of platelet-derived growth factor receptor-beta signaling pathway  uc003ugh.1 uc003ugh.2 uc003ugh.3 uc003ugh.4 
ENST00000248598.6 FGL2 ENST00000248598.6 Homo sapiens fibrinogen like 2 (FGL2), mRNA. (from RefSeq NM_006682) ENST00000248598.1 ENST00000248598.2 ENST00000248598.3 ENST00000248598.4 ENST00000248598.5 FGL2_HUMAN NM_006682 Q14314 uc003ugb.1 uc003ugb.2 uc003ugb.3 uc003ugb.4 uc003ugb.5 The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.35522.1, SRR1660803.186075.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248598.6/ ENSP00000248598.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in physiologic lymphocyte functions at mucosal sites. Homotetramer; disulfide-linked. Secreted. Constitutively expressed in cytotoxic T-cells. Contains 1 fibrinogen C-terminal domain. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/fgl2/"; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell immunoglobulin production involved in immunoglobulin mediated immune response negative regulation of dendritic cell antigen processing and presentation negative regulation of macrophage antigen processing and presentation extracellular matrix structural constituent extracellular region fibrinogen complex proteolysis peptidase activity neutrophil degranulation negative regulation of memory T cell differentiation negative regulation of defense response to virus extracellular exosome ficolin-1-rich granule lumen  uc003ugb.1 uc003ugb.2 uc003ugb.3 uc003ugb.4 uc003ugb.5 
ENST00000248600.5 STYXL1 ENST00000248600.5 Homo sapiens serine/threonine/tyrosine interacting like 1 (STYXL1), transcript variant 8, non-coding RNA. (from RefSeq NR_134487) DUSP24 ENST00000248600.1 ENST00000248600.2 ENST00000248600.3 ENST00000248600.4 MKSTYX NR_134487 Q9UBP1 Q9UK06 Q9UK07 Q9UKG2 Q9UKG3 Q9Y6J8 STYL1_HUMAN uc003uel.1 uc003uel.2 uc003uel.3 uc003uel.4 Probable pseudophosphatase. Contains a Ser residue instead of a conserved Cys residue in the dsPTPase catalytic loop which probably renders it catalytically inactive as a phosphatase. The binding pocket may be however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Event=Alternative splicing; Named isoforms=5; Comment=Experimental confirmation may be lacking for some isoforms; Name=1; IsoId=Q9Y6J8-1; Sequence=Displayed; Name=2; IsoId=Q9Y6J8-2; Sequence=VSP_005178, VSP_005179; Name=3; IsoId=Q9Y6J8-3; Sequence=VSP_005180; Name=4; IsoId=Q9Y6J8-4; Sequence=VSP_005175; Name=5; IsoId=Q9Y6J8-5; Sequence=VSP_005176, VSP_005177; Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily. Contains 1 rhodanese domain. Contains 1 tyrosine-protein phosphatase domain. pseudophosphatase activity protein phosphatase inhibitor activity protein binding mitochondrion mitochondrial matrix protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity positive regulation of neuron projection development dephosphorylation protein phosphatase binding negative regulation of phosphoprotein phosphatase activity intracellular signal transduction regulation of intrinsic apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway  uc003uel.1 uc003uel.2 uc003uel.3 uc003uel.4 
ENST00000248633.9 PEX1 ENST00000248633.9 Homo sapiens peroxisomal biogenesis factor 1 (PEX1), transcript variant 1, mRNA. (from RefSeq NM_000466) A4D1G3 A8KA90 ENST00000248633.1 ENST00000248633.2 ENST00000248633.3 ENST00000248633.4 ENST00000248633.5 ENST00000248633.6 ENST00000248633.7 ENST00000248633.8 NM_000466 O43933 PEX1_HUMAN Q96S71 Q96S72 Q96S73 Q99994 uc003uly.1 uc003uly.2 uc003uly.3 uc003uly.4 uc003uly.5 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]. Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6. Q13608:PEX6; NbExp=2; IntAct=EBI-988601, EBI-988581; Cytoplasm. Peroxisome membrane. Note=Associated with peroxisomal membranes. Phosphorylated upon DNA damage, probably by ATM or ATR. Defects in PEX1 are the cause of peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]; also known as PBD-CGE. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Defects in PEX1 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Defects in PEX1 are a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Belongs to the AAA ATPase family. Sequence=AAB46346.1; Type=Erroneous gene model prediction; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PEX1"; Name=dbPEX, PEX Gene Database; URL="http://www.dbpex.org/home.php?select_db=PEX1"; nucleotide binding protein binding ATP binding cytoplasm peroxisome peroxisomal membrane cytosol protein targeting to peroxisome peroxisome organization protein C-terminus binding protein transport membrane protein import into peroxisome matrix ATPase activity ATPase activity, coupled macromolecular complex binding microtubule-based peroxisome localization extracellular exosome  uc003uly.1 uc003uly.2 uc003uly.3 uc003uly.4 uc003uly.5 
ENST00000248668.5 LRFN1 ENST00000248668.5 Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA. (from RefSeq NM_020862) ENST00000248668.1 ENST00000248668.2 ENST00000248668.3 ENST00000248668.4 KIAA1484 LRFN1_HUMAN NM_020862 Q8TBS9 Q9P244 SALM2 uc002okw.1 uc002okw.2 uc002okw.3 uc002okw.4 Promotes neurite outgrowth in hippocampal neurons. Involved in the regulation and maintenance of excitatory synapses. Induces the clustering of excitatory postsynaptic proteins, including DLG4, DLGAP1, GRIA1 and GRIN1 (By similarity). Can form heteromeric complexes with LRFN2, LRFN3, LRFN4 and LRFN5 (By similarity). Forms homomeric complexes, but not across cell junctions (By similarity). Interacts with DLG1, DLG2, DLG3 and DLG4. Interacts with 2 AMPA receptor subunits GRIA1 and GRIA2 and NMDA receptor subunit GRIN1 (By similarity). Membrane; Single-pass type I membrane protein (By similarity). Cell junction, synapse (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By similarity). Note=Detected in excitatory, but not inhibitory, synaptic plasma membrane (By similarity). The PDZ-binding motif is required for neurite outgrowth promotion and for DLG1-, DLG3- and DLG4-binding (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR. Glycosylated (By similarity). Belongs to the LRFN family. Contains 1 fibronectin type-III domain. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 7 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. plasma membrane cell surface postsynaptic density membrane integral component of membrane cell junction synapse postsynaptic membrane integral component of postsynaptic density membrane  uc002okw.1 uc002okw.2 uc002okw.3 uc002okw.4 
ENST00000248701.8 SPINK2 ENST00000248701.8 Homo sapiens serine peptidase inhibitor Kazal type 2 (SPINK2), transcript variant 2, mRNA. (from RefSeq NM_021114) ENST00000248701.1 ENST00000248701.2 ENST00000248701.3 ENST00000248701.4 ENST00000248701.5 ENST00000248701.6 ENST00000248701.7 ISK2_HUMAN NM_021114 P20155 Q6FGH2 uc003hcg.1 uc003hcg.2 uc003hcg.3 This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. Strong inhibitor of acrosin in male and/or female genital tract. Also inhibits trypsin. Secreted. Expressed in epididymis (at protein level). Contains 1 Kazal-like domain. acrosomal vesicle acrosome assembly endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity protein binding extracellular region spermatid development negative regulation of peptidase activity peptidase inhibitor activity cytoplasmic vesicle negative regulation of serine-type endopeptidase activity  uc003hcg.1 uc003hcg.2 uc003hcg.3 
ENST00000248706.5 RASL11B ENST00000248706.5 Homo sapiens RAS like family 11 member B (RASL11B), mRNA. (from RefSeq NM_023940) B2RC51 ENST00000248706.1 ENST00000248706.2 ENST00000248706.3 ENST00000248706.4 NM_023940 Q96KC5 Q9BPW5 RSLBB_HUMAN uc003gzt.1 uc003gzt.2 uc003gzt.3 uc003gzt.4 uc003gzt.5 RASL11B is a member of the small GTPase protein family with a high degree of similarity to RAS (see HRAS, MIM 190020) proteins.[supplied by OMIM, Nov 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.602430.1, SRR3476690.442080.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248706.5/ ENSP00000248706.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Widely expressed with highest levels in placenta and primary macrophages. Up-regulated during development of primary monocytes into macrophages. By TGFB1. Belongs to the small GTPase superfamily. Ras family. nucleotide binding GTPase activity transforming growth factor beta receptor binding GTP binding signal transduction membrane negative regulation of transforming growth factor beta receptor signaling pathway  uc003gzt.1 uc003gzt.2 uc003gzt.3 uc003gzt.4 uc003gzt.5 
ENST00000248846.10 TUBGCP6 ENST00000248846.10 Homo sapiens tubulin gamma complex associated protein 6 (TUBGCP6), mRNA. (from RefSeq NM_020461) ENST00000248846.1 ENST00000248846.2 ENST00000248846.3 ENST00000248846.4 ENST00000248846.5 ENST00000248846.6 ENST00000248846.7 ENST00000248846.8 ENST00000248846.9 GCP6 GCP6_HUMAN KIAA1669 NM_020461 Q5JZ80 Q6PJ40 Q86YE9 Q96RT7 Q9BY91 Q9UGX3 Q9UGX4 uc003bkb.1 uc003bkb.2 uc003bkb.3 The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF272887.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248846.10/ ENSP00000248846.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6. Cytoplasm, cytoskeleton, centrosome. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96RT7-1; Sequence=Displayed; Name=2; IsoId=Q96RT7-2; Sequence=VSP_001624; Note=No experimental confirmation available; Name=3; IsoId=Q96RT7-3; Sequence=VSP_017208, VSP_017209; Note=No experimental confirmation available; Defects in TUBGCP6 are the cause of microcephaly with chorioretinopathy, autosomal recessive (MCPHCR) [MIM:251270]. A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. Belongs to the TUBGCP family. Sequence=AAH42165.1; Type=Frameshift; Positions=1651, 1723; Sequence=BAB33339.1; Type=Miscellaneous discrepancy; Note=Intron retention; microtubule cytoskeleton organization mitotic cell cycle spindle pole equatorial microtubule organizing center gamma-tubulin complex cytoplasm centrosome microtubule organizing center cytosol cytoskeleton microtubule microtubule nucleation microtubule binding gamma-tubulin ring complex membrane cytoplasmic microtubule organization gamma-tubulin binding spindle assembly meiotic cell cycle interphase microtubule nucleation by interphase microtubule organizing center microtubule minus-end binding  uc003bkb.1 uc003bkb.2 uc003bkb.3 
ENST00000248879.8 DGCR6L ENST00000248879.8 Homo sapiens DiGeorge syndrome critical region gene 6 like (DGCR6L), mRNA. (from RefSeq NM_033257) A8K1N7 D3DX29 DGC6L_HUMAN ENST00000248879.1 ENST00000248879.2 ENST00000248879.3 ENST00000248879.4 ENST00000248879.5 ENST00000248879.6 ENST00000248879.7 NM_033257 Q9BW33 Q9BY27 uc002zrx.1 uc002zrx.2 uc002zrx.3 uc002zrx.4 uc002zrx.5 This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.684320.1, SRR1163655.203191.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248879.8/ ENSP00000248879.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May play a role in neural crest cell migration into the third and fourth pharyngeal pouches. Nucleus. Note=Predominantly nuclear. Widely expressed in fetal and adult tissues. Highest expression in liver, heart and skeletal muscle. Lower levels in pancreas and placenta. Weak expression in brain. Belongs to the gonadal family. protein binding nucleus  uc002zrx.1 uc002zrx.2 uc002zrx.3 uc002zrx.4 uc002zrx.5 
ENST00000248899.11 NCF4 ENST00000248899.11 Homo sapiens neutrophil cytosolic factor 4 (NCF4), transcript variant 1, mRNA. (from RefSeq NM_000631) A8K4F9 ENST00000248899.1 ENST00000248899.10 ENST00000248899.2 ENST00000248899.3 ENST00000248899.4 ENST00000248899.5 ENST00000248899.6 ENST00000248899.7 ENST00000248899.8 ENST00000248899.9 NCF4_HUMAN NM_000631 O60808 Q15080 Q86U56 Q9BU98 Q9NP45 SH3PXD4 uc003apy.1 uc003apy.2 uc003apy.3 uc003apy.4 uc003apy.5 uc003apy.6 The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]. Component of the NADPH-oxidase, a multicomponent enzyme system responsible for the oxidative burst in which electrons are transported from NADPH to molecular oxygen, generating reactive oxidant intermediates. It may be important for the assembly and/or activation of the NADPH-oxidase complex. p40-PHOX associates primarily with p67-PHOX to form a complex with p47-PHOX. Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15080-1; Sequence=Displayed; Name=2; IsoId=Q15080-2; Sequence=VSP_004328; Name=3; IsoId=Q15080-3; Sequence=VSP_042681; Expression is restricted to hematopoietic cells. The OPR/PB1 domain mediates the association with NCF2/p67- PHOX. Defects in NCF4 are the cause of chronic granulomatous disease autosomal recessive cytochrome-b-positive type 3 (CGD3) [MIM:613960]. CGD3 is a disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections. Contains 1 OPR domain. Contains 1 PX (phox homology) domain. Contains 1 SH3 domain. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding cytoplasm endosome cytosol superoxide metabolic process phagocytosis immune response lipid binding endosome membrane membrane superoxide-generating NADPH oxidase activator activity phagolysosome phosphatidylinositol-3-phosphate binding cellular response to oxidative stress phosphatidylinositol binding NADPH oxidase complex positive regulation of catalytic activity cell redox homeostasis respiratory burst protein dimerization activity vascular endothelial growth factor receptor signaling pathway oxidation-reduction process  uc003apy.1 uc003apy.2 uc003apy.3 uc003apy.4 uc003apy.5 uc003apy.6 
ENST00000248901.11 CYTH4 ENST00000248901.11 Homo sapiens cytohesin 4 (CYTH4), transcript variant 1, mRNA. (from RefSeq NM_013385) CYH4_HUMAN CYT4 ENST00000248901.1 ENST00000248901.10 ENST00000248901.2 ENST00000248901.3 ENST00000248901.4 ENST00000248901.5 ENST00000248901.6 ENST00000248901.7 ENST00000248901.8 ENST00000248901.9 NM_013385 PSCD4 Q5R3F9 Q9UGT6 Q9UIA0 uc003arf.1 uc003arf.2 uc003arf.3 uc003arf.4 uc003arf.5 This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. Promotes guanine-nucleotide exchange on ARF1 and ARF5. Promotes the activation of ARF through replacement of GDP with GTP. Cell membrane. Expressed predominantly in peripheral blood leukocytes. Contains 1 PH domain. Contains 1 SEC7 domain. Golgi membrane guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity cytosol plasma membrane lipid binding membrane regulation of ARF protein signal transduction  uc003arf.1 uc003arf.2 uc003arf.3 uc003arf.4 uc003arf.5 
ENST00000248924.11 GCAT ENST00000248924.11 Homo sapiens glycine C-acetyltransferase (GCAT), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014291) ENST00000248924.1 ENST00000248924.10 ENST00000248924.2 ENST00000248924.3 ENST00000248924.4 ENST00000248924.5 ENST00000248924.6 ENST00000248924.7 ENST00000248924.8 ENST00000248924.9 KBL KBL_HUMAN NM_014291 O75600 Q96CA9 uc003atz.1 uc003atz.2 uc003atz.3 uc003atz.4 uc003atz.5 The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]. Acetyl-CoA + glycine = CoA + 2-amino-3- oxobutanoate. Pyridoxal phosphate (By similarity). Amino-acid degradation; L-threonine degradation via oxydo-reductase pathway; glycine from L-threonine: step 2/2. Mitochondrion (By similarity). Nucleus. Note=Translocates to the nucleus upon cold and osmotic stress. Strongly expressed in heart, brain, liver and pancreas. Also found in lung. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. catalytic activity nucleus nucleoplasm mitochondrion mitochondrial inner membrane cellular amino acid metabolic process threonine catabolic process glycine C-acetyltransferase activity biosynthetic process nuclear speck transferase activity transferase activity, transferring acyl groups L-threonine catabolic process to glycine pyridoxal phosphate binding  uc003atz.1 uc003atz.2 uc003atz.3 uc003atz.4 uc003atz.5 
ENST00000248929.14 SGSM3 ENST00000248929.14 Homo sapiens small G protein signaling modulator 3 (SGSM3), transcript variant 16, non-coding RNA. (from RefSeq NR_146415) B0QY79 ENST00000248929.1 ENST00000248929.10 ENST00000248929.11 ENST00000248929.12 ENST00000248929.13 ENST00000248929.2 ENST00000248929.3 ENST00000248929.4 ENST00000248929.5 ENST00000248929.6 ENST00000248929.7 ENST00000248929.8 ENST00000248929.9 MAP NR_146415 Q7Z709 Q96HU1 Q9NT69 RABGAPLP RUTBC3 SGSM3_HUMAN uc003ayu.1 uc003ayu.2 uc003ayu.3 May play a cooperative role in NF2-mediated growth suppression of cells. Interacts with GJA1. Interaction with GJA1 induces its degradation (By similarity). Interacts via its RUN domain with the C-terminal region of NF2. Interacts with RAB3A, RAB4A, RAB5A, RAB8A, RAB11A, RAP1A, RAP1B, RAP2A, RAP2B and PDCD6IP. No interaction with RAB27A. Cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96HU1-1; Sequence=Displayed; Name=2; IsoId=Q96HU1-2; Sequence=VSP_052561; Note=Gene prediction based on EST data; Widely expressed. Belongs to the small G protein signaling modulator family. Contains 1 Rab-GAP TBC domain. Contains 1 RUN domain. Contains 1 SH3 domain. GTPase activator activity protein binding cytoplasm cytosol gap junction intracellular protein transport cell cycle cell cycle arrest Rab GTPase binding regulation of Rab protein signal transduction Rap protein signal transduction positive regulation of GTPase activity positive regulation of protein catabolic process plasma membrane to endosome transport activation of GTPase activity regulation of cilium assembly  uc003ayu.1 uc003ayu.2 uc003ayu.3 
ENST00000248933.11 SEZ6L ENST00000248933.11 Homo sapiens seizure related 6 homolog like (SEZ6L), transcript variant 1, mRNA. (from RefSeq NM_021115) A0AUW7 B0QYG4 B0QYG5 ENST00000248933.1 ENST00000248933.10 ENST00000248933.2 ENST00000248933.3 ENST00000248933.4 ENST00000248933.5 ENST00000248933.6 ENST00000248933.7 ENST00000248933.8 ENST00000248933.9 KIAA0927 NM_021115 O95917 Q5THY5 Q6IBZ4 Q6UXD4 Q9BYH1 Q9NUI3 Q9NUI4 Q9NUI5 Q9Y2E1 Q9Y3J6 SE6L1_HUMAN UNQ2542/PRO6094 uc003acb.1 uc003acb.2 uc003acb.3 uc003acb.4 uc003acb.5 May contribute to specialized endoplasmic reticulum functions in neurons (By similarity). Endoplasmic reticulum membrane; Single-pass type I membrane protein (By similarity). Event=Alternative splicing; Named isoforms=6; Comment=Experimental confirmation may be lacking for some isoforms; Name=4; IsoId=Q9BYH1-1; Sequence=Displayed; Name=1; IsoId=Q9BYH1-2; Sequence=VSP_003976, VSP_003977, VSP_003980; Name=2; IsoId=Q9BYH1-3; Sequence=VSP_003976, VSP_003979, VSP_003980; Name=3; IsoId=Q9BYH1-4; Sequence=VSP_003981, VSP_003978; Name=5; IsoId=Q9BYH1-5; Sequence=VSP_013022; Name=6; IsoId=Q9BYH1-6; Sequence=VSP_003979; Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines. Belongs to the SEZ6 family. Contains 3 CUB domains. Contains 5 Sushi (CCP/SCR) domains. Sequence=BAA76771.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; endoplasmic reticulum endoplasmic reticulum membrane adult locomotory behavior membrane integral component of membrane cerebellar Purkinje cell layer development neuronal cell body synapse maturation regulation of protein kinase C signaling  uc003acb.1 uc003acb.2 uc003acb.3 uc003acb.4 uc003acb.5 
ENST00000248948.4 VPREB3 ENST00000248948.4 Homo sapiens V-set pre-B cell surrogate light chain 3 (VPREB3), mRNA. (from RefSeq NM_013378) B2R587 ENST00000248948.1 ENST00000248948.2 ENST00000248948.3 NM_013378 Q9UKI3 UNQ355/PRO619 VPRE3_HUMAN uc002zxt.1 uc002zxt.2 uc002zxt.3 uc002zxt.4 uc002zxt.5 The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC020666.1, AY359000.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149876, SAMEA2150385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248948.4/ ENSP00000248948.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells. Expressed in B-cell precursors. Expressed in fetal liver, bone marrow, spleen and lymph node. Belongs to the immunoglobulin superfamily. Contains 1 Ig-like (immunoglobulin-like) domain. immunoglobulin production extracellular region extracellular space endoplasmic reticulum immune response leukocyte migration  uc002zxt.1 uc002zxt.2 uc002zxt.3 uc002zxt.4 uc002zxt.5 
ENST00000248958.5 SDF2L1 ENST00000248958.5 Homo sapiens stromal cell derived factor 2 like 1 (SDF2L1), mRNA. (from RefSeq NM_022044) A2RUD3 ENST00000248958.1 ENST00000248958.2 ENST00000248958.3 ENST00000248958.4 NM_022044 Q9BRI5 Q9HCN8 SDF2L_HUMAN UNQ1941/PRO4424 uc002zvf.1 uc002zvf.2 uc002zvf.3 uc002zvf.4 uc002zvf.5 Endoplasmic reticulum lumen (Potential). Ubiquitously expressed with high expression in testis, moderate expression in the pancreas, spleen, prostate, small intestine and colon. Very low expression is seen in brain and skeletal muscle. Contains 3 MIR domains. dolichyl-phosphate-mannose-protein mannosyltransferase activity endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane membrane endoplasmic reticulum chaperone complex response to endoplasmic reticulum stress protein O-linked mannosylation regulation of apoptotic process chaperone binding ATPase binding misfolded protein binding cellular response to misfolded protein ER-associated misfolded protein catabolic process  uc002zvf.1 uc002zvf.2 uc002zvf.3 uc002zvf.4 uc002zvf.5 
ENST00000248975.6 YWHAH ENST00000248975.6 Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta (YWHAH), mRNA. (from RefSeq NM_003405) 1433F_HUMAN ENST00000248975.1 ENST00000248975.2 ENST00000248975.3 ENST00000248975.4 ENST00000248975.5 NM_003405 Q04917 YWHA1 uc003alz.1 uc003alz.2 uc003alz.3 uc003alz.4 uc003alz.5 This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.310288.1, SRR3476690.534567.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000248975.6/ ENSP00000248975.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1. Homodimer (By similarity). Interacts with many nuclear hormone receptors and cofactors including AR, ESR1, ESR2, MC2R, NR3C1, NRIP1, PPARBP and THRA. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Interacts with ARHGEF28 and CDK16 (By similarity). Weakly interacts with CDKN1B. Interacts with GAB2. Interacts with KCNK18 in a phosphorylation- dependent manner. Interacts with SAMSN1 (By similarity). Interacts with the 'Ser-241' phosphorylated form of PDPK1. O94921:CDK14; NbExp=3; IntAct=EBI-306940, EBI-1043945; O60565:GREM1; NbExp=5; IntAct=EBI-306940, EBI-944395; Q14678-2:KANK1; NbExp=3; IntAct=EBI-306940, EBI-6173812; Q7KZI7:MARK2; NbExp=6; IntAct=EBI-306940, EBI-516560; P27448:MARK3; NbExp=4; IntAct=EBI-306940, EBI-707595; Q96L34:MARK4; NbExp=6; IntAct=EBI-306940, EBI-302319; Q8TEW0:PARD3; NbExp=6; IntAct=EBI-306940, EBI-81968; Q9NPB6:PARD6A; NbExp=2; IntAct=EBI-306940, EBI-81876; Q9BYG5:PARD6B; NbExp=2; IntAct=EBI-306940, EBI-295391; Q9BYG4:PARD6G; NbExp=2; IntAct=EBI-306940, EBI-295417; P41743:PRKCI; NbExp=3; IntAct=EBI-306940, EBI-286199; P04049:RAF1; NbExp=2; IntAct=EBI-306940, EBI-365996; Expressed mainly in the brain and present in other tissues albeit at lower levels. Belongs to the 14-3-3 family. regulation of sodium ion transport actin binding insulin-like growth factor receptor binding protein binding cytoplasm mitochondrion cytosol plasma membrane glucocorticoid catabolic process intracellular protein transport intercalated disc sodium channel regulator activity enzyme binding protein domain specific binding substantia nigra development glucocorticoid receptor binding identical protein binding glucocorticoid receptor signaling pathway ion channel binding regulation of neuron differentiation positive regulation of transcription, DNA-templated protein heterodimerization activity regulation of synaptic plasticity negative regulation of dendrite morphogenesis membrane organization extracellular exosome membrane depolarization during action potential positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway regulation of sodium ion transmembrane transporter activity  uc003alz.1 uc003alz.2 uc003alz.3 uc003alz.4 uc003alz.5 
ENST00000248980.9 RFPL1S ENST00000248980.9 RFPL1 antisense RNA 1 (from HGNC RFPL1S) ENST00000248980.1 ENST00000248980.2 ENST00000248980.3 ENST00000248980.4 ENST00000248980.5 ENST00000248980.6 ENST00000248980.7 ENST00000248980.8 uc003ame.1 uc003ame.2 uc003ame.3 uc003ame.4  uc003ame.1 uc003ame.2 uc003ame.3 uc003ame.4 
ENST00000248983.8 RFPL2 ENST00000248983.8 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75678-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=O75678-2; Sequence=VSP_014267; Name=3; IsoId=O75678-3; Sequence=VSP_038326, VSP_038327; (from UniProt O75678) AK055999 ENST00000248983.1 ENST00000248983.2 ENST00000248983.3 ENST00000248983.4 ENST00000248983.5 ENST00000248983.6 ENST00000248983.7 O75678 RFPL2_HUMAN RNF79 uc062dmr.1 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O75678-1; Sequence=Displayed; Note=No experimental confirmation available; Name=2; IsoId=O75678-2; Sequence=VSP_014267; Name=3; IsoId=O75678-3; Sequence=VSP_038326, VSP_038327; Seems to be expressed in prostate and less abundantly in adult brain, fetal liver, and fetal kidney. Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. Sequence=CAA09045.1; Type=Erroneous initiation; Note=Translation N-terminally extended; metal ion binding  uc062dmr.1 
ENST00000249005.3 A4GALT ENST00000249005.3 Homo sapiens alpha 1,4-galactosyltransferase (P blood group) (A4GALT), transcript variant 2, mRNA. (from RefSeq NM_001318038) A14GALT A4GALT1 A4GAT_HUMAN B2R7C4 ENST00000249005.1 ENST00000249005.2 NM_001318038 Q9NPC4 Q9P1X5 uc062ewl.1 uc062ewl.2 The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]. Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins. UDP-alpha-D-galactose + beta-D-galactosyl- (1->4)-D-glucosyl-(1<->1)-ceramide = UDP + alpha-D-galactosyl- (1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein (Probable). Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta. The conserved DXD motif is involved in enzyme activity (By similarity). Genetic variation in A4GALT is responsible for the P system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are clinically important because they can cause severe transfusion reactions and miscarriage. Belongs to the glycosyltransferase 32 family. Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/a4galt/"; Name=Functional Glycomics Gateway - GTase; Note=Lactosylceramide 4-alpha-galactosyltransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_428"; Golgi membrane globoside biosynthetic process Golgi apparatus lipid metabolic process glycosphingolipid biosynthetic process plasma membrane organization galactosyltransferase activity toxic substance binding membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups integral component of Golgi membrane lactosylceramide 4-alpha-galactosyltransferase activity  uc062ewl.1 uc062ewl.2 
ENST00000249007.4 RFPL3 ENST00000249007.4 Homo sapiens ret finger protein like 3 (RFPL3), transcript variant 1, mRNA. (from RefSeq NM_001098535) ENST00000249007.1 ENST00000249007.2 ENST00000249007.3 NM_001098535 O75679 Q6IC03 Q6IC04 Q6NSX3 RFPL3_HUMAN uc003amj.1 uc003amj.2 uc003amj.3 Contains 1 B30.2/SPRY domain. Contains 1 RING-type zinc finger. Sequence=CAA09046.1; Type=Erroneous initiation; protein binding nucleus cytoplasm metal ion binding  uc003amj.1 uc003amj.2 uc003amj.3 
ENST00000249014.5 CDC42EP1 ENST00000249014.5 Homo sapiens CDC42 effector protein 1 (CDC42EP1), mRNA. (from RefSeq NM_152243) A8K825 BORG5 BORG5_HUMAN CEP1 ENST00000249014.1 ENST00000249014.2 ENST00000249014.3 ENST00000249014.4 MSE55 NM_152243 Q00587 Q96GN1 uc003asz.1 uc003asz.2 uc003asz.3 uc003asz.4 uc003asz.5 uc003asz.6 CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.394995.1, SRR3476690.446293.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249014.5/ ENSP00000249014.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts. Interacts with RHOQ and CDC42, in a GTP-dependent manner. P60953:CDC42; NbExp=3; IntAct=EBI-744130, EBI-81752; Endomembrane system; Peripheral membrane protein. Cytoplasm, cytoskeleton. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q00587-1; Sequence=Displayed; Name=2; IsoId=Q00587-2; Sequence=VSP_004325; Endothelial and bone marrow stromal cells. The CRIB domain mediates interaction with CDC42. Belongs to the BORG/CEP family. Contains 1 CRIB domain. protein binding cytoplasm cytoskeleton plasma membrane cell-cell adherens junction focal adhesion Rho protein signal transduction regulation of cell shape endomembrane system membrane GTP-Rho binding positive regulation of actin filament polymerization positive regulation of pseudopodium assembly cell-cell adhesion cadherin binding involved in cell-cell adhesion  uc003asz.1 uc003asz.2 uc003asz.3 uc003asz.4 uc003asz.5 uc003asz.6 
ENST00000249016.5 MCHR1 ENST00000249016.5 Homo sapiens melanin concentrating hormone receptor 1 (MCHR1), mRNA. (from RefSeq NM_005297) B2RBX6 ENST00000249016.1 ENST00000249016.2 ENST00000249016.3 ENST00000249016.4 GPR24 MCHR1_HUMAN NM_005297 Q5R3J1 Q96S47 Q99705 Q9BV08 SLC1 uc003ayz.1 uc003ayz.2 uc003ayz.3 uc003ayz.4 uc003ayz.5 The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF490537.2, BC021146.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for melanin-concentrating hormone, coupled to both G proteins that inhibit adenylyl cyclase and G proteins that activate phosphoinositide hydrolysis. Interacts with NCDN. Cell membrane; Multi-pass membrane protein. Highest level in brain, particularly in the frontal cortex and hypothalamus, lower levels in the liver and heart. Belongs to the G-protein coupled receptor 1 family. It is uncertain whether Met-1, Met-6 or Met-70 is the initiator. Sequence=AAC14587.1; Type=Erroneous gene model prediction; G-protein coupled receptor activity receptor binding plasma membrane integral component of plasma membrane cilium generation of precursor metabolites and energy signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration neuropeptide signaling pathway feeding behavior protein C-terminus binding neuropeptide receptor activity membrane integral component of membrane melanin-concentrating hormone receptor activity peptide binding hormone binding neuropeptide binding positive regulation of calcium ion transport ciliary membrane non-motile cilium  uc003ayz.1 uc003ayz.2 uc003ayz.3 uc003ayz.4 uc003ayz.5 
ENST00000249041.3 GALR3 ENST00000249041.3 Homo sapiens galanin receptor 3 (GALR3), mRNA. (from RefSeq NM_003614) ENST00000249041.1 ENST00000249041.2 GALNR3 GALR3_HUMAN NM_003614 O60755 Q53YJ4 uc003aub.1 uc003aub.2 The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF073799.1, AY587582.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMN04284274 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249041.3/ ENSP00000249041.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for the hormone galanin. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity galanin receptor activity plasma membrane integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger negative regulation of adenylate cyclase activity neuropeptide signaling pathway chemical synaptic transmission learning or memory feeding behavior G-protein coupled peptide receptor activity membrane integral component of membrane peptide hormone binding positive regulation of transcription from RNA polymerase II promoter galanin-activated signaling pathway non-motile cilium  uc003aub.1 uc003aub.2 
ENST00000249042.8 TST ENST00000249042.8 Homo sapiens thiosulfate sulfurtransferase (TST), transcript variant 1, mRNA. (from RefSeq NM_003312) B3KRM1 ENST00000249042.1 ENST00000249042.2 ENST00000249042.3 ENST00000249042.4 ENST00000249042.5 ENST00000249042.6 ENST00000249042.7 NM_003312 Q16762 Q6IB06 THTR_HUMAN uc003aqh.1 uc003aqh.2 uc003aqh.3 uc003aqh.4 uc003aqh.5 uc003aqh.6 This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. Formation of iron-sulfur complexes, cyanide detoxification or modification of sulfur-containing enzymes. Other thiol compounds, besides cyanide, can act as sulfur ion acceptors. Also has weak mercaptopyruvate sulfurtransferase (MST) activity (By similarity). Together with MRPL18, acts as a mitochondrial import factor for the cytosolic 5S rRNA. Only the nascent unfolded cytoplasmic form is able to bind to the 5S rRNA. Thiosulfate + cyanide = sulfite + thiocyanate. Monomer. Mitochondrion matrix. The structure consists of 2 domains of very similar conformation, suggesting a common evolutionary origin. However, the sequences of the 2 domains are very different. Contains 2 rhodanese domains. sulfur amino acid catabolic process RNA binding thiosulfate sulfurtransferase activity extracellular space mitochondrion mitochondrial matrix 5S rRNA binding cyanate catabolic process transferase activity transsulfuration epithelial cell differentiation rRNA import into mitochondrion rRNA transport  uc003aqh.1 uc003aqh.2 uc003aqh.3 uc003aqh.4 uc003aqh.5 uc003aqh.6 
ENST00000249044.2 APOL5 ENST00000249044.2 Homo sapiens apolipoprotein L5 (APOL5), mRNA. (from RefSeq NM_030642) APOL5_HUMAN ENST00000249044.1 NM_030642 Q5TFL9 Q9BWW9 Q9UGW5 uc003aof.1 uc003aof.2 uc003aof.3 uc003aof.4 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY014878.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249044.2/ ENSP00000249044.2 RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. P00519:ABL1; NbExp=1; IntAct=EBI-1753592, EBI-375543; P46108:CRK; NbExp=1; IntAct=EBI-1753592, EBI-886; P06241:FYN; NbExp=1; IntAct=EBI-1753592, EBI-515315; P62993:GRB2; NbExp=1; IntAct=EBI-1753592, EBI-401755; P16333:NCK1; NbExp=1; IntAct=EBI-1753592, EBI-389883; P27986:PIK3R1; NbExp=1; IntAct=EBI-1753592, EBI-79464; P12931:SRC; NbExp=1; IntAct=EBI-1753592, EBI-621482; Cytoplasm (Probable). Low level of expression; detected in uterus, testis, skeletal muscle and stomach. Belongs to the apolipoprotein L family. cellular_component extracellular region cytoplasm lipid metabolic process lipid transport high-density lipoprotein particle binding lipid binding lipoprotein metabolic process  uc003aof.1 uc003aof.2 uc003aof.3 uc003aof.4 
ENST00000249053.3 IGLL1 ENST00000249053.3 Homo sapiens immunoglobulin lambda like polypeptide 1 (IGLL1), transcript variant 2, mRNA. (from RefSeq NM_152855) ENST00000249053.1 ENST00000249053.2 IGL1 IGLL1_HUMAN NM_152855 P15814 Q0P681 uc002zxe.1 uc002zxe.2 uc002zxe.3 uc002zxe.4 The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements. The preB cell receptor is composed of a membrane-bound Ig mu heavy chain in association with a heterodimeric surrogate light chain. This gene encodes one of the surrogate light chain subunits and is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement. Mutations in this gene can result in B cell deficiency and agammaglobulinemia, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC030239.1, BG392623.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## Critical for B-cell development. Associates non-covalently with VPREB1. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P15814-1; Sequence=Displayed; Name=2; IsoId=P15814-2; Sequence=VSP_042748; Note=No experimental confirmation available; Expressed only in pre-B-cells and a special B- cell line (which is surface Ig negative). Defects in IGLL1 are the cause of agammaglobulinemia type 2 (AGM2) [MIM:613500]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Contains 1 Ig-like C1-type (immunoglobulin-like) domain. Name=IGLL1base; Note=IGLL1 mutation db; URL="http://bioinf.uta.fi/IGLL1base/"; Name=Wikipedia; Note=IGLL1; URL="http://en.wikipedia.org/wiki/IGLL1"; antigen binding extracellular region phagocytosis, recognition phagocytosis, engulfment immune response complement activation, classical pathway external side of plasma membrane membrane immunoglobulin receptor binding immunoglobulin complex, circulating defense response to bacterium innate immune response B cell receptor signaling pathway positive regulation of B cell activation leukocyte migration  uc002zxe.1 uc002zxe.2 uc002zxe.3 uc002zxe.4 
ENST00000249064.9 CCDC117 ENST00000249064.9 Homo sapiens coiled-coil domain containing 117 (CCDC117), transcript variant 1, mRNA. (from RefSeq NM_173510) A8K0F1 CC117_HUMAN ENST00000249064.1 ENST00000249064.2 ENST00000249064.3 ENST00000249064.4 ENST00000249064.5 ENST00000249064.6 ENST00000249064.7 ENST00000249064.8 NM_173510 Q6ICA7 Q8IWD4 Q8N278 uc003aeb.1 uc003aeb.2 uc003aeb.3 uc003aeb.4 uc003aeb.5 uc003aeb.6 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IWD4-1; Sequence=Displayed; Name=2; IsoId=Q8IWD4-2; Sequence=VSP_021185; Note=No experimental confirmation available; protein binding  uc003aeb.1 uc003aeb.2 uc003aeb.3 uc003aeb.4 uc003aeb.5 uc003aeb.6 
ENST00000249066.10 APOL2 ENST00000249066.10 Homo sapiens apolipoprotein L2 (APOL2), transcript variant beta, mRNA. (from RefSeq NM_145637) APOL2_HUMAN B0QYK7 ENST00000249066.1 ENST00000249066.2 ENST00000249066.3 ENST00000249066.4 ENST00000249066.5 ENST00000249066.6 ENST00000249066.7 ENST00000249066.8 ENST00000249066.9 NM_145637 O95915 Q59GW9 Q5TH96 Q969T6 Q9BQE5 Q9BT28 Q9UGT1 Q9UH10 uc003apa.1 uc003apa.2 uc003apa.3 uc003apa.4 This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]. May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles. Cytoplasm (Probable). Widely expressed; the highest levels are found in lung, thymus, pancreas, placenta, adult brain and prostate; also detected in spleen, liver, kidney, colon, small intestine, uterus, spinal cord, adrenal gland, salivary gland, trachea, mammary gland, skeletal muscle, testis and fetal brain and liver. Belongs to the apolipoprotein L family. Sequence=BAD92227.1; Type=Erroneous initiation; receptor binding extracellular region cytoplasm endoplasmic reticulum membrane lipid metabolic process lipid transport acute-phase response multicellular organism development high-density lipoprotein particle binding cholesterol metabolic process lipid binding membrane lipoprotein metabolic process maternal process involved in female pregnancy  uc003apa.1 uc003apa.2 uc003apa.3 uc003apa.4 
ENST00000249071.11 RAC2 ENST00000249071.11 Homo sapiens Rac family small GTPase 2 (RAC2), mRNA. (from RefSeq NM_002872) ENST00000249071.1 ENST00000249071.10 ENST00000249071.2 ENST00000249071.3 ENST00000249071.4 ENST00000249071.5 ENST00000249071.6 ENST00000249071.7 ENST00000249071.8 ENST00000249071.9 NM_002872 P15153 Q9UDJ4 RAC2_HUMAN uc003arc.1 uc003arc.2 uc003arc.3 uc003arc.4 uc003arc.5 uc003arc.6 This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.42286.1, SRR3476690.25701.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149876, SAMEA2150385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249071.11/ ENSP00000249071.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. Interacts with DOCK2, which may activate it. Interacts with S100A8 and calprotectin (S100A8/9). Cytoplasm. Note=Membrane-associated when activated. Hematopoietic specific. Defects in RAC2 are the cause of neutrophil immunodeficiency syndrome (NEUID) [MIM:608203]. Belongs to the small GTPase superfamily. Rho family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAC2ID42021ch22q13.html"; Name=RAC2base; Note=RAC2 mutation db; URL="http://bioinf.uta.fi/RAC2base/"; nucleotide binding GTPase activity protein binding GTP binding nuclear envelope cytoplasm cytosol plasma membrane focal adhesion cell cortex chemotaxis actin filament organization establishment or maintenance of cell polarity signal transduction G-protein coupled receptor signaling pathway small GTPase mediated signal transduction Rho protein signal transduction motor neuron axon guidance positive regulation of cell proliferation regulation of cell shape regulation of hydrogen peroxide metabolic process positive regulation of lamellipodium assembly regulation of cell-substrate adhesion membrane Rac protein signal transduction protein kinase regulator activity protein kinase binding lamellipodium cell projection assembly actin cytoskeleton organization phagocytic vesicle membrane regulation of actin cytoskeleton organization regulation of T cell proliferation cell projection regulation of mast cell degranulation engulfment of apoptotic cell bone resorption cell redox homeostasis regulation of protein kinase activity regulation of small GTPase mediated signal transduction positive regulation of protein kinase B signaling regulation of respiratory burst regulation of mast cell chemotaxis extracellular exosome lymphocyte aggregation positive regulation of neutrophil chemotaxis regulation of neutrophil migration positive regulation of protein targeting to mitochondrion actin filament  uc003arc.1 uc003arc.2 uc003arc.3 uc003arc.4 uc003arc.5 uc003arc.6 
ENST00000249075.4 LIF ENST00000249075.4 Homo sapiens LIF interleukin 6 family cytokine (LIF), transcript variant 1, mRNA. (from RefSeq NM_002309) B2RCW7 ENST00000249075.1 ENST00000249075.2 ENST00000249075.3 HILDA LIF_HUMAN NM_002309 P15018 Q52LZ2 uc003agz.1 uc003agz.2 uc003agz.3 uc003agz.4 The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]. LIF has the capacity to induce terminal differentiation in leukemic cells. Its activities include the induction of hematopoietic differentiation in normal and myeloid leukemia cells, the induction of neuronal cell differentiation, and the stimulation of acute-phase protein synthesis in hepatocytes. Secreted. In phase II clinical trial. The drug is being developed by Amrad to assist embryo implantation in women who have failed to become pregnant despite assisted reproductive technologies (ART). Belongs to the LIF/OSM family. Name=Wikipedia; Note=Leukemia inhibitory factor entry; URL="http://en.wikipedia.org/wiki/Leukemia_inhibitory_factor"; blood vessel remodeling receptor binding cytokine activity leukemia inhibitory factor receptor binding protein binding extracellular region extracellular space cytosol immune response tyrosine phosphorylation of STAT protein multicellular organism development embryo implantation growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of gene expression cytokine-mediated signaling pathway stem cell population maintenance lung development positive regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation of STAT protein positive regulation of tyrosine phosphorylation of STAT protein positive regulation of MAPK cascade regulation of cell differentiation positive regulation of macrophage differentiation negative regulation of meiotic nuclear division positive regulation of transcription from RNA polymerase II promoter decidualization negative regulation of hormone secretion lung alveolus development muscle organ morphogenesis neuron development positive regulation of astrocyte differentiation leukemia inhibitory factor signaling pathway stem cell differentiation positive regulation of peptidyl-tyrosine phosphorylation maternal process involved in female pregnancy lung vasculature development lung lobe morphogenesis trophoblast giant cell differentiation spongiotrophoblast differentiation negative regulation of ERK1 and ERK2 cascade positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis regulation of metanephric nephron tubule epithelial cell differentiation positive regulation of protein localization to nucleus positive regulation of histone H3-K27 acetylation regulation of RNA polymerase II regulatory region sequence-specific DNA binding  uc003agz.1 uc003agz.2 uc003agz.3 uc003agz.4 
ENST00000249079.6 C22orf23 ENST00000249079.6 Belongs to the UPF0193 (EVG1) family. (from UniProt Q9BZE7) AK057349 ENST00000249079.1 ENST00000249079.2 ENST00000249079.3 ENST00000249079.4 ENST00000249079.5 EVG1_HUMAN Q5JYU9 Q96M68 Q9BZE7 uc062ebs.1 Belongs to the UPF0193 (EVG1) family. molecular_function protein binding cellular_component biological_process  uc062ebs.1 
ENST00000249116.7 APOBEC3A ENST00000249116.7 Homo sapiens apolipoprotein B mRNA editing enzyme catalytic subunit 3A (APOBEC3A), transcript variant 1, mRNA. (from RefSeq NM_145699) A0AVM1 ABC3A_HUMAN ENST00000249116.1 ENST00000249116.2 ENST00000249116.3 ENST00000249116.4 ENST00000249116.5 ENST00000249116.6 NM_145699 P31941 Q12807 Q5JZ93 Q9UH18 uc003awn.1 uc003awn.2 uc003awn.3 This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]. Single-stranded DNA cytidine deaminase involved in foreign DNA clearance. May trigger C-to-U hypermutation in exogenous DNA leading to its degradation. Provides cellular innate resistance to a specific panel of genetic invaders including endogenous retroelements and a subset of viruses. May have a preference for cytidines in a C-C sequence context. May also play a role in the epigenetic regulation of gene expression through the process of active DNA demethylation. Cytidine + H(2)O = uridine + NH(3). Zinc (By similarity). Nucleus. Cytoplasm. Event=Alternative initiation; Named isoforms=2; Name=1; Synonyms=Phorbolin-1; IsoId=P31941-1; Sequence=Displayed; Note=Enzymatically active; Name=2; IsoId=P31941-2; Sequence=VSP_041723; Note=Enzymatically active; Expressed in peripheral leukocytes with higher expression in CD14-positive phagocytic cells. Also detected in non-lymphoid tissues including lung and adipose tissues. Also detected in keratinocytes. Up-regulated by interferon and CpG single-stranded DNA (at protein level). It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Belongs to the cytidine and deoxycytidylate deaminase family. P-body immune system process RNA binding catalytic activity cytidine deaminase activity protein binding nucleus cytoplasm zinc ion binding cytidine deamination negative regulation of transposition cytidine to uridine editing hydrolase activity clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine negative regulation of viral genome replication innate immune response negative regulation of single stranded viral RNA replication via double stranded DNA intermediate metal ion binding deoxycytidine deaminase activity defense response to virus DNA cytosine deamination cellular response to xenobiotic stimulus DNA demethylation  uc003awn.1 uc003awn.2 uc003awn.3 
ENST00000249209.8 EMC4 ENST00000249209.8 Homo sapiens ER membrane protein complex subunit 4 (EMC4), transcript variant 4, non-coding RNA. (from RefSeq NR_147140) A8K3A9 B4DJQ4 EMC4_HUMAN ENST00000249209.1 ENST00000249209.2 ENST00000249209.3 ENST00000249209.4 ENST00000249209.5 ENST00000249209.6 ENST00000249209.7 HSPC184 NR_147140 PIG17 Q5J8M3 Q96KX9 Q9BUI5 Q9P0T9 TMEM85 uc001zhs.1 uc001zhs.2 uc001zhs.3 uc001zhs.4 uc001zhs.5 May mediate anti-apoptotic activity. Component of the ER membrane protein complex (EMC). Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=TMEM85v1; IsoId=Q5J8M3-1; Sequence=Displayed; Name=2; Synonyms=TMEM85v2; IsoId=Q5J8M3-2; Sequence=VSP_020798, VSP_020799; Name=3; IsoId=Q5J8M3-3; Sequence=VSP_037374, VSP_037375; Isoform 1 is expressed in brain and heart. Isoform 2 is expressed in heart. Belongs to the EMC4 family. apoptotic process membrane integral component of membrane ER membrane protein complex  uc001zhs.1 uc001zhs.2 uc001zhs.3 uc001zhs.4 uc001zhs.5 
ENST00000249269.9 PMPCB ENST00000249269.9 Homo sapiens peptidase, mitochondrial processing subunit beta (PMPCB), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_004279) ENST00000249269.1 ENST00000249269.2 ENST00000249269.3 ENST00000249269.4 ENST00000249269.5 ENST00000249269.6 ENST00000249269.7 ENST00000249269.8 MPPB MPPB_HUMAN NM_004279 O60416 O75439 Q96FV4 uc003vbl.1 uc003vbl.2 uc003vbl.3 uc003vbl.4 uc003vbl.5 This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.164164.1, SRR1803615.112289.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000249269.9/ ENSP00000249269.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cleaves presequences (transit peptides) from mitochondrial protein precursors (By similarity). Release of N-terminal transit peptides from precursor proteins imported into the mitochondrion, typically with Arg in position P2. Binds 1 zinc ion per subunit (By similarity). Heterodimer of alpha and beta subunits (By similarity). Mitochondrion matrix (By similarity). Belongs to the peptidase M16 family. catalytic activity endopeptidase activity metalloendopeptidase activity mitochondrion mitochondrial inner membrane mitochondrial matrix proteolysis protein processing involved in protein targeting to mitochondrion mitochondrial calcium ion transport peptidase activity metallopeptidase activity hydrolase activity mitochondrial processing peptidase complex metal ion binding  uc003vbl.1 uc003vbl.2 uc003vbl.3 uc003vbl.4 uc003vbl.5 
ENST00000249270.11 DNAJC2 ENST00000249270.11 Homo sapiens DnaJ heat shock protein family (Hsp40) member C2 (DNAJC2), transcript variant 2, mRNA. (from RefSeq NM_001129887) A4VCI0 DNJC2_HUMAN ENST00000249270.1 ENST00000249270.10 ENST00000249270.2 ENST00000249270.3 ENST00000249270.4 ENST00000249270.5 ENST00000249270.6 ENST00000249270.7 ENST00000249270.8 ENST00000249270.9 MPHOSPH11 MPP11 NM_001129887 Q99543 Q9BVX1 ZRF1 uc010lix.1 uc010lix.2 uc010lix.3 uc010lix.4 This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]. Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb- repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at 'Lys-119' (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5'-GTCAAGC-3'. Interacts (via ZRF1-UBD region) with ID1 (By similarity). Component of ribosome-associated complex (RAC), a heterodimer composed of Hsp70/DnaK-type chaperone HSPA14 and Hsp40/DnaJ-type chaperone DNAJC2. Nucleus. Cytoplasm, cytosol. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99543-1; Sequence=Displayed; Name=2; IsoId=Q99543-2; Sequence=VSP_023562; Widely expressed. Expression is repressed by CEBPA. Strongly overexpressed in leukemic cells. The ZRF1-UBD region specifically recognizes and binds H2AK119ub. The ZRF1-UBD region is also involved in protein-protein interactions with other proteins, suggesting that it may be masked by some regulator, thereby preventing its association with H2AK119ub. Phosphorylated in M (mitotic) phase. Constitutes a myeloid leukemia-associated antigen and might be a target for leukemia T-cell therapy. Contains 1 J domain. Contains 2 SANT domains. Sequence=AAI39752.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA66913.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding chromatin binding RNA binding protein binding nucleus nucleoplasm cytoplasm cytosol DNA replication chromatin organization regulation of transcription from RNA polymerase II promoter Hsp70 protein binding nuclear membrane histone binding positive regulation of transcription, DNA-templated 'de novo' cotranslational protein folding ubiquitinated histone binding regulation of cellular response to heat negative regulation of DNA biosynthetic process  uc010lix.1 uc010lix.2 uc010lix.3 uc010lix.4 
ENST00000249284.3 TAS2R16 ENST00000249284.3 Homo sapiens taste 2 receptor member 16 (TAS2R16), mRNA. (from RefSeq NM_016945) A4D0X2 ENST00000249284.1 ENST00000249284.2 NM_016945 Q502V3 Q549U8 Q645W1 Q9NYV7 T2R16_HUMAN uc003vkl.1 uc003vkl.2 This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript is intronless :: BC095524.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249284.3/ ENSP00000249284.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Membrane; Multi-pass membrane protein. Expressed in a subset of gustducin-positive taste receptor cells of the tongue. The Lys-172 polymorphism in TAS2R16 is associated with genetic susceptibility to alcoholism [MIM:103780]. Several bitter taste receptors are expressed in a single taste receptor cell. Confers bitter perception of salicin to non-taster mice. Belongs to the G-protein coupled receptor T2R family. detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor activity protein binding endoplasmic reticulum trans-Golgi network plasma membrane signal transduction G-protein coupled receptor signaling pathway external side of plasma membrane membrane integral component of membrane bitter taste receptor activity response to stimulus sensory perception of taste  uc003vkl.1 uc003vkl.2 
ENST00000249289.5 ATP6V1F ENST00000249289.5 Homo sapiens ATPase H+ transporting V1 subunit F (ATP6V1F), transcript variant 1, mRNA. (from RefSeq NM_004231) ATP6S14 ENST00000249289.1 ENST00000249289.2 ENST00000249289.3 ENST00000249289.4 NM_004231 Q16864 Q6IBA8 VATF VATF_HUMAN uc003voc.1 uc003voc.2 uc003voc.3 uc003voc.4 This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]. Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Belongs to the V-ATPase F subunit family. protein binding cytosol ion transport insulin receptor signaling pathway hydrogen ion transmembrane transporter activity membrane proton-transporting two-sector ATPase complex vacuolar proton-transporting V-type ATPase complex ATPase activity proton-transporting V-type ATPase, V1 domain transferrin transport ion transmembrane transport ATPase coupled ion transmembrane transporter activity proton-transporting ATPase activity, rotational mechanism extracellular exosome phagosome acidification hydrogen ion transmembrane transport  uc003voc.1 uc003voc.2 uc003voc.3 uc003voc.4 
ENST00000249299.7 LSM8 ENST00000249299.7 Homo sapiens LSM8 homolog, U6 small nuclear RNA associated (LSM8), mRNA. (from RefSeq NM_016200) ENST00000249299.1 ENST00000249299.2 ENST00000249299.3 ENST00000249299.4 ENST00000249299.5 ENST00000249299.6 NAA38 NAA38_HUMAN NM_016200 O95777 uc003vjg.1 uc003vjg.2 uc003vjg.3 uc003vjg.4 uc003vjg.5 This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DA247272.1, SRR1803617.184135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249299.7/ ENSP00000249299.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds specifically to the 3'-terminal U-tract of U6 snRNA. LSm subunits form a heteromer with a doughnut shape. Q9Y333:LSM2; NbExp=5; IntAct=EBI-347779, EBI-347416; P62310:LSM3; NbExp=5; IntAct=EBI-347779, EBI-348239; Q9Y4Z0:LSM4; NbExp=4; IntAct=EBI-347779, EBI-372521; Nucleus (Potential). Belongs to the snRNP Sm proteins family. mRNA splicing, via spliceosome RNA binding protein binding nucleus nucleoplasm spliceosomal complex U6 snRNP mRNA processing RNA splicing RNA metabolic process U6 snRNA binding U4/U6 x U5 tri-snRNP complex U2-type precatalytic spliceosome  uc003vjg.1 uc003vjg.2 uc003vjg.3 uc003vjg.4 uc003vjg.5 
ENST00000249330.3 VGF ENST00000249330.3 Homo sapiens VGF nerve growth factor inducible (VGF), mRNA. (from RefSeq NM_003378) ENST00000249330.1 ENST00000249330.2 NM_003378 O15240 Q9UDW8 VGF_HUMAN uc003uxx.1 uc003uxx.2 uc003uxx.3 uc003uxx.4 uc003uxx.5 uc003uxx.6 This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK225839.1, BC036537.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2157437 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249330.3/ ENSP00000249330.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May be involved in the regulation of cell-cell interactions or in synatogenesis during the maturation of the nervous system (By similarity). NERP peptides are involved in the control of body fluid homeostasis by regulating vasopressin release. Secreted. Cytoplasmic vesicle, secretory vesicle. Note=Stored in secretory vesicles and then secreted, NERP peptides colocalize with vasopressin in the storage granules of hypothalamus. Central and peripheral nervous systems, synthesized exclusively in neuronal and neuroendocrine cells. Multiple peptides are derived from VGF, with activities in synaptic plasticity, antidepression, penile erection, autonomic activation, and increases in energy expenditure (By similarity). ovarian follicle development response to dietary excess molecular_function neuropeptide hormone activity extracellular region extracellular space endoplasmic reticulum lumen Golgi apparatus generation of precursor metabolites and energy signal transduction growth factor activity response to cold sexual reproduction insulin secretion transport vesicle cytoplasmic vesicle response to insulin glucose homeostasis defense response to bacterium intracellular membrane-bounded organelle post-translational protein modification cellular protein metabolic process response to cAMP  uc003uxx.1 uc003uxx.2 uc003uxx.3 uc003uxx.4 uc003uxx.5 uc003uxx.6 
ENST00000249344.7 STRIP2 ENST00000249344.7 Homo sapiens striatin interacting protein 2 (STRIP2), transcript variant 1, mRNA. (from RefSeq NM_020704) ENST00000249344.1 ENST00000249344.2 ENST00000249344.3 ENST00000249344.4 ENST00000249344.5 ENST00000249344.6 FA40B_HUMAN FAM40B KIAA1170 NM_020704 Q8WUZ4 Q9ULQ0 uc011koy.1 uc011koy.2 uc011koy.3 uc011koy.4 Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Cytoplasm. Note=Enriched in lamellipodia. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULQ0-1; Sequence=Displayed; Name=2; IsoId=Q9ULQ0-2; Sequence=VSP_014867, VSP_014868; Belongs to the FAM40 family. Sequence=BAA86484.1; Type=Erroneous initiation; molecular_function cytoplasm cytosol cytoskeleton organization regulation of cell shape cell migration  uc011koy.1 uc011koy.2 uc011koy.3 uc011koy.4 
ENST00000249356.4 DNAJB9 ENST00000249356.4 Homo sapiens DnaJ heat shock protein family (Hsp40) member B9 (DNAJB9), mRNA. (from RefSeq NM_012328) DNJB9_HUMAN ENST00000249356.1 ENST00000249356.2 ENST00000249356.3 MDG1 NM_012328 Q9UBS3 UNQ743/PRO1471 uc003vfn.1 uc003vfn.2 uc003vfn.3 uc003vfn.4 uc003vfn.5 This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.178169.1, SRR3476690.1086571.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249356.4/ ENSP00000249356.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a co-chaperone with an Hsp70 protein (By similarity). Cytoplasm (By similarity). Nucleus (By similarity). Note=Stress induces its translocation to the nucleus (By similarity). Contains 1 J domain. immunoglobulin production protein binding nucleolus cytoplasm endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane response to unfolded protein B cell differentiation ER-associated ubiquitin-dependent protein catabolic process Hsp70 protein binding response to endoplasmic reticulum stress IRE1-mediated unfolded protein response chaperone binding misfolded protein binding extracellular exosome negative regulation of IRE1-mediated unfolded protein response  uc003vfn.1 uc003vfn.2 uc003vfn.3 uc003vfn.4 uc003vfn.5 
ENST00000249363.4 LRRC4 ENST00000249363.4 Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA. (from RefSeq NM_022143) A4D0Y9 BAG ENST00000249363.1 ENST00000249363.2 ENST00000249363.3 LRRC4_HUMAN NAG14 NM_022143 Q14DU9 Q6ZMI8 Q96A85 Q9HBW1 UNQ554/PRO1111 uc003vmk.1 uc003vmk.2 uc003vmk.3 uc003vmk.4 uc003vmk.5 This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF196976.4, BC111561.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249363.4/ ENSP00000249363.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Synaptic adhesion protein. Regulates the formation of exitatory synapses through the recruitment of pre-and-postsynaptic proteins. Organize the lamina/pathway-specific differentiation of dendrites. Plays a important role for auditory synaptic responses. Involved in the suppression of glioma (By similarity). Interacts with NTNG2 (By similarity). Interacts with DLG4 (By similarity). Forms a complex with DLG4 and with NMDA receptors. Membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic cell membrane (By similarity). Note=LRRC4 and DLG4 are interdependent for synaptic localization (By similarity). Specifically expressed in brain. The last 4 C-terminal residues bind to the first 2 PDZ domains of DLG4 (By similarity). N-glycosylated (By similarity). Contains 1 Ig-like (immunoglobulin-like) domain. Contains 9 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. protein binding plasma membrane membrane integral component of membrane cell junction dendritic spine neuron spine synapse postsynaptic membrane modulation of synaptic transmission synapse organization excitatory synapse postsynaptic density protein 95 clustering glutamatergic synapse integral component of postsynaptic density membrane synaptic membrane adhesion excitatory synapse assembly  uc003vmk.1 uc003vmk.2 uc003vmk.3 uc003vmk.4 uc003vmk.5 
ENST00000249364.9 CALU ENST00000249364.9 Homo sapiens calumenin (CALU), transcript variant 1, mRNA. (from RefSeq NM_001219) ENST00000249364.1 ENST00000249364.2 ENST00000249364.3 ENST00000249364.4 ENST00000249364.5 ENST00000249364.6 ENST00000249364.7 ENST00000249364.8 NM_001219 Q6IAW5 Q6IAW5_HUMAN hCG_41656 uc003vnq.1 uc003vnq.2 uc003vnq.3 uc003vnq.4 uc003vnq.5 The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]. calcium ion binding endoplasmic reticulum  uc003vnq.1 uc003vnq.2 uc003vnq.3 uc003vnq.4 uc003vnq.5 
ENST00000249373.8 SMO ENST00000249373.8 Homo sapiens smoothened, frizzled class receptor (SMO), mRNA. (from RefSeq NM_005631) ENST00000249373.1 ENST00000249373.2 ENST00000249373.3 ENST00000249373.4 ENST00000249373.5 ENST00000249373.6 ENST00000249373.7 NM_005631 Q99835 SMOH SMO_HUMAN uc003vor.1 uc003vor.2 uc003vor.3 uc003vor.4 uc003vor.5 The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC009989.2, U84401.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249373.8/ ENSP00000249373.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## G protein-coupled receptor that probably associates with the patched protein (PTCH) to transduce the hedgehog's proteins signal. Binding of sonic hedgehog (SHH) to its receptor patched is thought to prevent normal inhibition by patched of smoothened (SMO). Required for the accumulation of KIF7 and GLI3 in the cilia. Interacts with ARRB2 (By similarity). Interacts with KIF7. Membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor Fz/Smo family. Contains 1 FZ (frizzled) domain. negative regulation of transcription from RNA polymerase II promoter ossification vasculogenesis osteoblast differentiation in utero embryonic development cell fate specification neural crest cell migration heart looping positive regulation of neuroblast proliferation positive regulation of mesenchymal cell proliferation heart morphogenesis determination of left/right asymmetry in lateral mesoderm type B pancreatic cell development transmembrane signaling receptor activity G-protein coupled receptor activity patched binding protein binding cytoplasm plasma membrane cilium signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway smoothened signaling pathway positive regulation of hh target transcription factor activity multicellular organism development determination of left/right symmetry ventral midline determination pattern specification process central nervous system development midgut development drug binding positive regulation of cell proliferation anterior/posterior pattern specification dorsal/ventral pattern formation regulation of gene expression positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane dentate gyrus development cerebellar cortex morphogenesis thalamus development dorsal/ventral neural tube patterning smoothened signaling pathway involved in ventral spinal cord patterning smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation central nervous system neuron differentiation cerebral cortex development positive regulation of cell migration dendrite endocytic vesicle membrane negative regulation of epithelial cell differentiation hair follicle morphogenesis protein localization to nucleus multicellular organism growth positive regulation of multicellular organism growth positive regulation of protein import into nucleus odontogenesis of dentin-containing tooth cell projection negative regulation of apoptotic process intracellular membrane-bounded organelle negative regulation of DNA binding positive regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of organ growth astrocyte activation cell development digestive tract development embryonic organ development developmental growth skeletal muscle fiber development forebrain morphogenesis homeostasis of number of cells within a tissue positive regulation of epithelial cell proliferation protein stabilization myoblast migration negative regulation of hair follicle development ciliary membrane detection of cell density by contact stimulus involved in contact inhibition atrial septum morphogenesis mammary gland epithelial cell differentiation epithelial-mesenchymal cell signaling somite development pancreas morphogenesis extracellular exosome left/right axis specification cellular response to cholesterol commissural neuron axon guidance renal system development mesenchymal to epithelial transition involved in metanephric renal vesicle formation positive regulation of branching involved in ureteric bud morphogenesis ciliary tip regulation of stem cell population maintenance regulation of heart morphogenesis Golgi apparatus caveola  uc003vor.1 uc003vor.2 uc003vor.3 uc003vor.4 uc003vor.5 
ENST00000249377.4 LRRC17 ENST00000249377.4 Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 2, mRNA. (from RefSeq NM_005824) ENST00000249377.1 ENST00000249377.2 ENST00000249377.3 LRC17_HUMAN NM_005824 P37NB Q13288 Q6UWA7 Q75MG5 Q8N6Y2 UNQ3076/PRO9909 uc003vat.1 uc003vat.2 uc003vat.3 uc003vat.4 Involved in bone homeostasis. Acts as a negative regulator of RANKL-induced osteoclast precursor differentiation from bone marrow precursors (By similarity). Secreted, extracellular space (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N6Y2-1; Sequence=Displayed; Name=2; IsoId=Q8N6Y2-2; Sequence=VSP_011424, VSP_011425; Expressed in osteoblast cell lines. Well expressed in ovary, heart, pancreas, skeletal muscle, lung, and fetal kidney and lung and only at the basal levels in the other tissues examined including adult kidney. More expressed in S-type neuroblastoma cells than in N-type neuroblastoma cells. Contains 6 LRR (leucine-rich) repeats. Contains 2 LRRCT domains. Contains 1 LRRNT domain. ossification extracellular region extracellular space extracellular matrix negative regulation of osteoclast differentiation bone marrow development osteoblast differentiation osteoblast proliferation  uc003vat.1 uc003vat.2 uc003vat.3 uc003vat.4 
ENST00000249389.3 OPN1SW ENST00000249389.3 Homo sapiens opsin 1, short wave sensitive (OPN1SW), mRNA. (from RefSeq NM_001385125) BCP ENST00000249389.1 ENST00000249389.2 NM_001385125 OPSB_HUMAN P03999 Q13877 uc003vnt.1 uc003vnt.2 uc003vnt.3 uc003vnt.4 uc003vnt.5 uc003vnt.6 This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: DQ822478.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. Absorption: Abs(max)=420 nm; Membrane; Multi-pass membrane protein. The three color pigments are found in the cone photoreceptor cells. Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. Defects in OPN1SW are the cause of tritan color blindness (CBT) [MIM:190900]. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. Name=Mutations of the color pigment genes; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cppmut.htm"; retinoid metabolic process photoreceptor outer segment photoreceptor inner segment G-protein coupled receptor activity integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway visual perception phototransduction G-protein coupled photoreceptor activity detection of visible light photoreceptor activity membrane integral component of membrane protein-chromophore linkage signaling receptor activity cell projection response to stimulus cellular response to light stimulus photoreceptor disc membrane  uc003vnt.1 uc003vnt.2 uc003vnt.3 uc003vnt.4 uc003vnt.5 uc003vnt.6 
ENST00000249396.12 SIRT2 ENST00000249396.12 Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA. (from RefSeq NM_012237) A8K3V1 B2RB45 ENST00000249396.1 ENST00000249396.10 ENST00000249396.11 ENST00000249396.2 ENST00000249396.3 ENST00000249396.4 ENST00000249396.5 ENST00000249396.6 ENST00000249396.7 ENST00000249396.8 ENST00000249396.9 NM_012237 O95889 Q8IXJ6 Q924Y7 Q9P0G8 Q9UNT0 Q9Y6E9 SIR2L SIR2L2 SIR2_HUMAN uc002ojt.1 uc002ojt.2 uc002ojt.3 uc002ojt.4 This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]. NAD-dependent protein deacetylase, which deacetylates internal lysines on histone and non-histone proteins. Deacetylates 'Lys-40' of alpha-tubulin. Involved in the control of mitotic exit in the cell cycle, probably via its role in the regulation of cytoskeleton. Deacetylates PCK1, opposing proteasomal degradation. Deacetylates 'Lys-310' of RELA. NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein. Binds 1 zinc ion per subunit. Inhibited by Sirtinol, A3 and M15 small molecules. Inhibited by nicotinamide. Interacts with HDAC6, suggesting that these proteins belong to a large complex that deacetylate the cytoskeleton. Q12834:CDC20; NbExp=2; IntAct=EBI-5240785, EBI-367462; Q9UM11:FZR1; NbExp=2; IntAct=EBI-5240785, EBI-724997; Q92831:KAT2B; NbExp=4; IntAct=EBI-477232, EBI-477430; Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8IXJ6-1; Sequence=Displayed; Name=2; IsoId=Q8IXJ6-2; Sequence=VSP_008724; Name=3; IsoId=Q8IXJ6-3; Sequence=VSP_008726; Note=No experimental confirmation available; Name=4; IsoId=Q8IXJ6-4; Sequence=VSP_008727, VSP_008728; Note=No experimental confirmation available; Widely expressed. Highly expressed in heart, brain and skeletal muscle, while it is weakly expressed in placenta and lung. Down-regulated in many gliomas suggesting that it may act as a tumor suppressor gene in human gliomas possibly through the regulation of microtubule network. Peaks during mitosis. After mitosis, it is probably degraded by the 26S proteasome. Phosphorylated at the G2/M transition of the cell cycle. Has some ability to deacetylate histones in vitro, but seeing its subcellular location, this is unlikely in vivo. Belongs to the sirtuin family. Class I subfamily. Contains 1 deacetylase sirtuin-type domain. Sequence=AAD45971.1; Type=Erroneous initiation; Sequence=AAF67015.1; Type=Frameshift; Positions=Several; negative regulation of transcription from RNA polymerase II promoter chromatin silencing at rDNA chromosome, telomeric region immune system process chromatin binding NAD+ ADP-ribosyltransferase activity histone deacetylase activity protein binding nucleus chromatin silencing complex chromosome nuclear heterochromatin nucleolus cytoplasm mitochondrion centrosome centriole microtubule organizing center spindle cytosol cytoskeleton microtubule plasma membrane chromatin silencing chromatin silencing at telomere protein ADP-ribosylation protein deacetylation autophagy cell cycle regulation of exit from mitosis nervous system development transcription factor binding zinc ion binding negative regulation of cell proliferation negative regulation of autophagy negative regulation of peptidyl-threonine phosphorylation phosphatidylinositol 3-kinase signaling membrane histone deacetylation hydrolase activity NAD-dependent histone deacetylase activity substantia nigra development myelination in peripheral nervous system cell differentiation growth cone midbody regulation of myelination positive regulation of proteasomal ubiquitin-dependent protein catabolic process paranodal junction paranode region of axon protein deacetylase activity cellular response to oxidative stress NAD-dependent protein deacetylase activity peptidyl-lysine deacetylation histone acetyltransferase binding cellular response to hepatocyte growth factor stimulus negative regulation of protein catabolic process regulation of phosphorylation histone deacetylase binding tubulin deacetylase activity cell projection ubiquitin binding proteasome-mediated ubiquitin-dependent protein catabolic process perikaryon myelin sheath lateral loop Schmidt-Lanterman incisure positive regulation of DNA binding protein kinase B signaling juxtaparanode region of axon cellular lipid catabolic process innate immune response regulation of fat cell differentiation negative regulation of fat cell differentiation positive regulation of meiotic nuclear division negative regulation of striated muscle tissue development negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding NAD-dependent histone deacetylase activity (H4-K16 specific) hepatocyte growth factor receptor signaling pathway perinuclear region of cytoplasm cell division meiotic cell cycle regulation of cell cycle response to redox state positive regulation of cell division positive regulation of attachment of spindle microtubules to kinetochore negative regulation of transcription from RNA polymerase II promoter in response to hypoxia cellular response to caloric restriction NAD+ binding negative regulation of oligodendrocyte progenitor proliferation histone H3 deacetylation histone H4 deacetylation cellular response to molecule of bacterial origin cellular response to hypoxia cellular response to epinephrine stimulus mitotic spindle meiotic spindle tubulin deacetylation glial cell projection positive regulation of execution phase of apoptosis positive regulation of oocyte maturation negative regulation of NLRP3 inflammasome complex assembly negative regulation of defense response to bacterium negative regulation of reactive oxygen species metabolic process positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia  uc002ojt.1 uc002ojt.2 uc002ojt.3 uc002ojt.4 
ENST00000249440.4 HOXD3 ENST00000249440.4 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. (from UniProt P31249) BC005124 ENST00000249440.1 ENST00000249440.2 ENST00000249440.3 HOX1D HOX4A HXD3_HUMAN P31249 Q99955 Q9BSC5 uc002ukt.1 uc002ukt.2 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. Contains 1 homeobox DNA-binding domain. It is uncertain whether Met-1 or Met-17 is the initiator. Sequence=BAA01891.1; Type=Erroneous initiation; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription, DNA-templated regulation of transcription, DNA-templated cell-matrix adhesion Notch signaling pathway multicellular organism development anterior/posterior pattern specification positive regulation of gene expression aggresome nuclear body glossopharyngeal nerve morphogenesis thyroid gland development sequence-specific DNA binding positive regulation of neuron differentiation positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis cartilage development  uc002ukt.1 uc002ukt.2 
ENST00000249442.11 MTX2 ENST00000249442.11 Homo sapiens metaxin 2 (MTX2), transcript variant 1, mRNA. (from RefSeq NM_006554) A8JZZ4 ENST00000249442.1 ENST00000249442.10 ENST00000249442.2 ENST00000249442.3 ENST00000249442.4 ENST00000249442.5 ENST00000249442.6 ENST00000249442.7 ENST00000249442.8 ENST00000249442.9 MTX2_HUMAN NM_006554 O75431 Q53S50 Q53SQ2 Q5M7Z6 uc002ukx.1 uc002ukx.2 uc002ukx.3 uc002ukx.4 uc002ukx.5 The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]. Involved in transport of proteins into the mitochondrion. Interacts with MTX1/metaxin-1. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3. Mitochondrion outer membrane. Belongs to the metaxin family. mitochondrial sorting and assembly machinery complex protein binding nucleolus mitochondrion mitochondrial outer membrane mitochondrial transport protein transport membrane  uc002ukx.1 uc002ukx.2 uc002ukx.3 uc002ukx.4 uc002ukx.5 
ENST00000249499.8 HOXD9 ENST00000249499.8 Homo sapiens homeobox D9 (HOXD9), mRNA. (from RefSeq NM_014213) ENST00000249499.1 ENST00000249499.2 ENST00000249499.3 ENST00000249499.4 ENST00000249499.5 ENST00000249499.6 ENST00000249499.7 HOX4C HXD9_HUMAN NM_014213 P28356 Q86ST1 uc010zex.1 uc010zex.2 uc010zex.3 uc010zex.4 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC044855.1, X59372.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249499.8/ ENSP00000249499.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Expressed in the developing limb buds. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. It is uncertain whether Met-1 or Met-11 is the initiator. Sequence=AAH44855.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA42016.1; Type=Erroneous initiation; Note=Translation N-terminally extended; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleolus transcription, DNA-templated regulation of transcription, DNA-templated multicellular organism development single fertilization skeletal muscle tissue development adult locomotory behavior anterior/posterior pattern specification proximal/distal pattern formation regulation of gene expression mammary gland development embryonic forelimb morphogenesis forelimb morphogenesis hindlimb morphogenesis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis embryonic skeletal system development peripheral nervous system neuron development  uc010zex.1 uc010zex.2 uc010zex.3 uc010zex.4 
ENST00000249501.5 HOXD10 ENST00000249501.5 Homo sapiens homeobox D10 (HOXD10), mRNA. (from RefSeq NM_002148) ENST00000249501.1 ENST00000249501.2 ENST00000249501.3 ENST00000249501.4 HOX4D HOX4E HXD10_HUMAN NM_002148 P28358 Q6NT10 uc002ukj.1 uc002ukj.2 uc002ukj.3 uc002ukj.4 uc002ukj.5 This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as 'rocker-bottom foot' deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC069619.1, X59373.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249501.5/ ENSP00000249501.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Strongly expressed in the adult male and female urogenital tracts. Expressed in the developing limb buds. Defects in HOXD10 are a cause of congenital vertical talus (CVT) [MIM:192950]; also known as rocker-bottom foot deformity or congenital convex pes valgus. CVT is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HOXD10"; nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development single fertilization skeletal muscle tissue development adult locomotory behavior anterior/posterior pattern specification proximal/distal pattern formation regulation of gene expression spinal cord motor neuron cell fate specification embryonic limb morphogenesis forelimb morphogenesis hindlimb morphogenesis cytoplasmic ribonucleoprotein granule sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system morphogenesis peripheral nervous system neuron development neuromuscular process  uc002ukj.1 uc002ukj.2 uc002ukj.3 uc002ukj.4 uc002ukj.5 
ENST00000249504.7 HOXD11 ENST00000249504.7 Homo sapiens homeobox D11 (HOXD11), mRNA. (from RefSeq NM_021192) A6NIS4 ENST00000249504.1 ENST00000249504.2 ENST00000249504.3 ENST00000249504.4 ENST00000249504.5 ENST00000249504.6 HOX4F HXD11_HUMAN NM_021192 P31277 Q9NS02 uc002uki.1 uc002uki.2 uc002uki.3 uc002uki.4 uc002uki.5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AI139039.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249504.7/ ENSP00000249504.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. Contains 1 homeobox DNA-binding domain. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding branching involved in ureteric bud morphogenesis DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development dorsal/ventral pattern formation sequence-specific DNA binding  uc002uki.1 uc002uki.2 uc002uki.3 uc002uki.4 uc002uki.5 
ENST00000249601.9 ARHGAP22 ENST00000249601.9 Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 15, non-coding RNA. (from RefSeq NR_144646) A0AVP7 A5YM75 B9EGA0 ENST00000249601.1 ENST00000249601.2 ENST00000249601.3 ENST00000249601.4 ENST00000249601.5 ENST00000249601.6 ENST00000249601.7 ENST00000249601.8 NR_144646 O00152 Q6ZSB0 Q7Z5H3 RHG22_HUMAN RHOGAP2 uc001jgt.1 uc001jgt.2 uc001jgt.3 uc001jgt.4 uc001jgt.5 uc001jgt.6 This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter (By similarity). Interacts with VEZF1 (By similarity). O00555:CACNA1A; NbExp=2; IntAct=EBI-3866859, EBI-766279; Cytoplasm (By similarity). Nucleus (By similarity). Note=Mainly cytoplasmic. Some fraction is nuclear (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q7Z5H3-1; Sequence=Displayed; Name=2; IsoId=Q7Z5H3-2; Sequence=VSP_023705; Note=No experimental confirmation available; Name=3; IsoId=Q7Z5H3-3; Sequence=VSP_023704; Note=No experimental confirmation available; Name=4; IsoId=Q7Z5H3-4; Sequence=VSP_023703; Note=No experimental confirmation available; Contains 1 PH domain. Contains 1 Rho-GAP domain. angiogenesis GTPase activator activity protein binding nucleus cytoplasm cytosol focal adhesion signal transduction multicellular organism development cell differentiation positive regulation of GTPase activity regulation of small GTPase mediated signal transduction glutamatergic synapse  uc001jgt.1 uc001jgt.2 uc001jgt.3 uc001jgt.4 uc001jgt.5 uc001jgt.6 
ENST00000249636.11 PIAS1 ENST00000249636.11 Homo sapiens protein inhibitor of activated STAT 1 (PIAS1), transcript variant 2, mRNA. (from RefSeq NM_016166) B2RB67 DDXBP1 ENST00000249636.1 ENST00000249636.10 ENST00000249636.2 ENST00000249636.3 ENST00000249636.4 ENST00000249636.5 ENST00000249636.6 ENST00000249636.7 ENST00000249636.8 ENST00000249636.9 NM_016166 O75925 PIAS1_HUMAN Q147X4 Q99751 Q9UN02 uc002aqz.1 uc002aqz.2 uc002aqz.3 uc002aqz.4 uc002aqz.5 This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]. Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Together with PRMT1, may repress STAT1 transcriptional activity, in the late phase of interferon gamma (IFN-gamma) signaling. Protein modification; protein sumoylation. Interacts with NCOA2 and AR. Interacts with NR2C1; the interaction promotes its sumoylation (By similarity). Interacts with DDX21, CSRP2, AXIN1, JUN, UBE2I, SUMO1, SATB2, PLAG1, TP53 and STAT1 (dimer), following IFNA1-stimulation. Interacts with SP3 (preferentially when SUMO-modified). Interacts with KLF8; the interaction results in SUMO ligation and repression of KLF8 transcriptional activity and of its cell cycle progression into G(1) phase. Interacts with STAT1. Interacts with CHUK/IKKA; this interaction induces PIAS1 phosphorylation. Interacts with PTK2/FAK1; the interaction promotes its sumoylation. Interacts with DDX5. Q9UKL3:CASP8AP2; NbExp=4; IntAct=EBI-629434, EBI-2339650; P04637:TP53; NbExp=3; IntAct=EBI-629434, EBI-366083; Nucleus speckle. Note=Interaction with CSRP2 may induce a partial redistribution along the cytoskeleton. Expressed in numerous tissues with highest level in testis. The LXXLL motif is a transcriptional coregulator signature. The SP-RING-type domain is required for promoting EKLF sumoylation (By similarity). Sumoylated. Dimethylated by PRMT1 at Arg-303 in the late phase of interferon gamma (IFN-gamma) signaling, leading to preferential interaction with STAT1 and thus resulting in release of STAT1 from its target gene. Belongs to the PIAS family. Contains 1 PINIT domain. Contains 1 SAP domain. Contains 1 SP-RING-type zinc finger. G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor binding DNA binding transcription cofactor activity transcription coactivator activity transcription corepressor activity protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter JAK-STAT cascade spermatogenesis protein C-terminus binding transcription factor binding zinc ion binding visual learning PML body nuclear speck transferase activity protein sumoylation SUMO transferase activity enzyme binding protein domain specific binding androgen receptor signaling pathway ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of protein sumoylation regulation of cell proliferation negative regulation of apoptotic process fat cell differentiation positive regulation of transcription, DNA-templated metal ion binding androgen receptor binding positive regulation of smooth muscle cell differentiation regulation of interferon-gamma-mediated signaling pathway SUMO ligase activity protein-DNA complex assembly  uc002aqz.1 uc002aqz.2 uc002aqz.3 uc002aqz.4 uc002aqz.5 
ENST00000249647.8 SNAP23 ENST00000249647.8 Homo sapiens synaptosome associated protein 23 (SNAP23), transcript variant 1, mRNA. (from RefSeq NM_003825) ENST00000249647.1 ENST00000249647.2 ENST00000249647.3 ENST00000249647.4 ENST00000249647.5 ENST00000249647.6 ENST00000249647.7 NM_003825 O00161 O00162 Q13602 Q6IAE3 SNP23_HUMAN uc001zpz.1 uc001zpz.2 uc001zpz.3 uc001zpz.4 Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]. Essential component of the high affinity receptor for the general membrane fusion machinery and an important regulator of transport vesicle docking and fusion. Binds simultaneously to SNAPIN and SYN4. Found in a complex with VAMP8 and STX4 in pancreas. Interacts with STX1A and STX12 (By similarity). Binds tightly to multiple syntaxins and synaptobrevins/VAMPs. Found in a complex with VAMP8 and STX1A. P54920:NAPA; NbExp=2; IntAct=EBI-745000, EBI-749652; Cell membrane; Peripheral membrane protein. Cell membrane; Lipid-anchor. Cell junction, synapse, synaptosome. Note=Mainly localized to the plasma membrane. Event=Alternative splicing; Named isoforms=2; Name=SNAP-23a; IsoId=O00161-1; Sequence=Displayed; Name=SNAP-23b; IsoId=O00161-2; Sequence=VSP_006187, VSP_006188; Ubiquitous. Highest levels where found in placenta. Belongs to the SNAP-25 family. Contains 2 t-SNARE coiled-coil homology domains. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent histamine secretion by mast cell SNAP receptor activity protein binding nucleoplasm cytoplasm plasma membrane cell-cell adherens junction focal adhesion exocytosis post-Golgi vesicle-mediated transport vesicle targeting vesicle fusion protein transport membrane synaptic vesicle priming syntaxin binding cell junction phagocytic vesicle membrane SNARE complex synaptic vesicle fusion to presynaptic active zone membrane specific granule membrane specific granule azurophil granule mast cell granule neuron projection neutrophil degranulation synapse membrane fusion extracellular exosome tertiary granule membrane presynapse  uc001zpz.1 uc001zpz.2 uc001zpz.3 uc001zpz.4 
ENST00000249700.9 TMOD2 ENST00000249700.9 Homo sapiens tropomodulin 2 (TMOD2), transcript variant 1, mRNA. (from RefSeq NM_014548) B4DEW6 ENST00000249700.1 ENST00000249700.2 ENST00000249700.3 ENST00000249700.4 ENST00000249700.5 ENST00000249700.6 ENST00000249700.7 ENST00000249700.8 NM_014548 NTMOD Q9NZR1 TMOD2_HUMAN uc002abk.1 uc002abk.2 uc002abk.3 uc002abk.4 uc002abk.5 This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]. Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity). Binds to the N-terminus of tropomyosin and to actin. Cytoplasm, cytoskeleton (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZR1-1; Sequence=Displayed; Name=2; IsoId=Q9NZR1-2; Sequence=VSP_041506; Neuronal-tissue specific. Belongs to the tropomodulin family. actin binding tropomyosin binding cytoplasm cytoskeleton striated muscle thin filament muscle contraction neuron-neuron synaptic transmission nervous system development learning or memory myofibril myofibril assembly growth cone neuron projection positive regulation of G-protein coupled receptor protein signaling pathway pointed-end actin filament capping  uc002abk.1 uc002abk.2 uc002abk.3 uc002abk.4 uc002abk.5 
ENST00000249736.11 SLTM ENST00000249736.11 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. (from UniProt H7BXE3) BC140851 ENST00000249736.1 ENST00000249736.10 ENST00000249736.2 ENST00000249736.3 ENST00000249736.4 ENST00000249736.5 ENST00000249736.6 ENST00000249736.7 ENST00000249736.8 ENST00000249736.9 H7BXE3 H7BXE3_HUMAN uc059jsy.1 The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. nucleic acid binding RNA binding nucleoplasm nuclear body  uc059jsy.1 
ENST00000249749.7 DLL4 ENST00000249749.7 Homo sapiens delta like canonical Notch ligand 4 (DLL4), mRNA. (from RefSeq NM_019074) DLL4_HUMAN ENST00000249749.1 ENST00000249749.2 ENST00000249749.3 ENST00000249749.4 ENST00000249749.5 ENST00000249749.6 NM_019074 Q3KP23 Q9NQT9 Q9NR61 UNQ1895/PRO4341 uc285mlf.1 This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.104185.1, SRR1660805.112319.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249749.7/ ENSP00000249749.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in the Notch signaling pathway. Activates Notch-1 and Notch-4 (By similarity). Binds to Notch-1 and Notch-4 (By similarity). Membrane; Single-pass type I membrane protein (Probable). Expressed in vascular endothelium. The Delta-Serrate-Lag2 (DSL) domain is required for binding to the Notch receptor. Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity). Contains 1 DSL domain. Contains 8 EGF-like domains. negative regulation of transcription from RNA polymerase II promoter angiogenesis branching involved in blood vessel morphogenesis blood vessel remodeling aortic valve morphogenesis cardiac ventricle morphogenesis cardiac atrium morphogenesis ventricular trabecula myocardium morphogenesis pericardium morphogenesis Notch binding calcium ion binding protein binding plasma membrane cell communication signal transduction Notch signaling pathway multicellular organism development nervous system development visual perception blood circulation negative regulation of cell proliferation negative regulation of endothelial cell migration positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane cell differentiation T cell differentiation dorsal aorta morphogenesis cellular response to vascular endothelial growth factor stimulus negative regulation of blood vessel endothelial cell migration cellular response to fibroblast growth factor stimulus negative regulation of Notch signaling pathway positive regulation of Notch signaling pathway regulation of neurogenesis response to stimulus ventral spinal cord interneuron fate commitment regulation of neural retina development Notch signaling involved in heart development blood vessel lumenization negative regulation of cell migration involved in sprouting angiogenesis negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis positive regulation of neural precursor cell proliferation  uc285mlf.1 
ENST00000249750.9 ALDH1A2 ENST00000249750.9 Homo sapiens aldehyde dehydrogenase 1 family member A2 (ALDH1A2), transcript variant 1, mRNA. (from RefSeq NM_003888) AL1A2_HUMAN B3KY52 B4DZR2 ENST00000249750.1 ENST00000249750.2 ENST00000249750.3 ENST00000249750.4 ENST00000249750.5 ENST00000249750.6 ENST00000249750.7 ENST00000249750.8 F5H2Y9 NM_003888 O94788 Q2PJS6 Q8NHQ4 Q9UBR8 Q9UFY0 RALDH2 uc002aex.1 uc002aex.2 uc002aex.3 uc002aex.4 uc002aex.5 This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]. Recognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Does metabolize octanal and decanal but does not metabolize citral, benzaldehyde, acetaldehyde and propanal efficiently (By similarity). Retinal + NAD(+) + H(2)O = retinoate + NADH. Cofactor metabolism; retinol metabolism. Homotetramer (By similarity). Cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O94788-1; Sequence=Displayed; Name=2; IsoId=O94788-2; Sequence=VSP_017363; Note=No experimental confirmation available; Name=3; IsoId=O94788-3; Sequence=VSP_044496; Note=No experimental confirmation available; Belongs to the aldehyde dehydrogenase family. Sequence=BAA34786.1; Type=Erroneous initiation; Sequence=BAA34787.1; Type=Erroneous initiation; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/aldh1a2/"; blood vessel development retinal dehydrogenase activity kidney development liver development regulation of endothelial cell proliferation retinoic acid biosynthetic process heart morphogenesis 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity cytoplasm cytosol vitamin A metabolic process midgut development positive regulation of cell proliferation negative regulation of cell proliferation determination of bilateral symmetry anterior/posterior pattern specification proximal/distal pattern formation positive regulation of gene expression neural crest cell development morphogenesis of embryonic epithelium oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor retinal binding neural tube development pituitary gland development neuron differentiation lung development embryonic limb morphogenesis forebrain development hindbrain development pancreas development embryonic camera-type eye development response to estradiol response to vitamin A response to cytokine embryonic forelimb morphogenesis ureter maturation retinol metabolic process retinoic acid metabolic process retinal metabolic process 9-cis-retinoic acid biosynthetic process camera-type eye development positive regulation of apoptotic process retinoic acid receptor signaling pathway perinuclear region of cytoplasm embryonic digestive tract development cardiac muscle tissue development protein homotetramerization oxidation-reduction process face development cellular response to retinoic acid retinoic acid receptor signaling pathway involved in somitogenesis  uc002aex.1 uc002aex.2 uc002aex.3 uc002aex.4 uc002aex.5 
ENST00000249776.13 KNSTRN ENST00000249776.13 Homo sapiens kinetochore localized astrin (SPAG5) binding protein (KNSTRN), transcript variant 1, mRNA. (from RefSeq NM_033286) B4DXA7 C15orf23 ENST00000249776.1 ENST00000249776.10 ENST00000249776.11 ENST00000249776.12 ENST00000249776.2 ENST00000249776.3 ENST00000249776.4 ENST00000249776.5 ENST00000249776.6 ENST00000249776.7 ENST00000249776.8 ENST00000249776.9 HSD11 NM_033286 Q147U5 Q32Q57 Q5ISJ0 Q6P2S5 Q6PJM0 Q86XB4 Q9Y448 SKAP SKAP_HUMAN TRAF4AF1 uc001zll.1 uc001zll.2 uc001zll.3 uc001zll.4 uc001zll.5 Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase. Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments. Part of an astrin (SPAG5)-kinastrin (SKAP) complex containing SKAP, SPAG5, PLK1, DYNLL1 and SGOL2. Interacts with SPAG5. Directly binds to microtubules, although at relatively low affinity. Interacts with CENPE; this interaction greatly favors microtubule-binding. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle pole. Note=Colocalizes with microtubules around centrosomes in prophase and with the mitotic spindle at prometaphase and metaphase. From late prometaphase to anaphase, is highly concentrated on kinetochores. Located at the kinetochore-microtubule interface. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9Y448-1; Sequence=Displayed; Name=2; IsoId=Q9Y448-2; Sequence=VSP_041070; Name=3; IsoId=Q9Y448-3; Sequence=VSP_041069; Degraded at the end of mitosis. Down-regulated upon exposure to nitric oxide. Sequence=AAH04543.1; Type=Erroneous termination; Positions=174; Note=Translated as Glu; Sequence=AAH14060.1; Type=Erroneous termination; Positions=174; Note=Translated as Glu; Sequence=AAI07803.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; mitotic sister chromatid segregation chromosome, centromeric region kinetochore condensed chromosome kinetochore spindle pole protein binding nucleus chromosome cytoplasm cytosol cytoskeleton microtubule cell cycle spindle organization chromosome segregation microtubule cytoskeleton microtubule plus-end cell division regulation of attachment of spindle microtubules to kinetochore mitotic spindle  uc001zll.1 uc001zll.2 uc001zll.3 uc001zll.4 uc001zll.5 
ENST00000249786.9 SERF2 ENST00000249786.9 Homo sapiens small EDRK-rich factor 2 (SERF2), transcript variant 3, mRNA. (from RefSeq NM_001018108) ENST00000249786.1 ENST00000249786.2 ENST00000249786.3 ENST00000249786.4 ENST00000249786.5 ENST00000249786.6 ENST00000249786.7 ENST00000249786.8 FAM2C NM_001018108 O75918 O88891 P84101 Q9BZH7 SERF2_HUMAN uc021skb.1 uc021skb.2 uc021skb.3 Belongs to the SERF family. Sequence=AAK07636.1; Type=Erroneous translation; Note=Wrong choice of frame; molecular_function nucleus cytosol biological_process protein destabilization  uc021skb.1 uc021skb.2 uc021skb.3 
ENST00000249806.11 CLN6 ENST00000249806.11 Homo sapiens CLN6 transmembrane ER protein (CLN6), mRNA. (from RefSeq NM_017882) A8K560 CLN6_HUMAN ENST00000249806.1 ENST00000249806.10 ENST00000249806.2 ENST00000249806.3 ENST00000249806.4 ENST00000249806.5 ENST00000249806.6 ENST00000249806.7 ENST00000249806.8 ENST00000249806.9 NM_017882 Q6IAB1 Q96SR0 Q9NWW5 uc002arf.1 uc002arf.2 uc002arf.3 uc002arf.4 uc002arf.5 This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK000568.1, SRR1163658.154690.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249806.11/ ENSP00000249806.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Interacts with CRMP2. Endoplasmic reticulum membrane; Multi-pass membrane protein. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]. A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]. An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. Name=NCL CLN6; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln6.shtml"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLN6"; ganglioside metabolic process protein binding endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane lysosome organization lysosomal lumen acidification visual perception cholesterol metabolic process membrane integral component of membrane protein catabolic process glycosaminoglycan metabolic process locomotion involved in locomotory behavior protein homodimerization activity cellular macromolecule catabolic process positive regulation of proteolysis  uc002arf.1 uc002arf.2 uc002arf.3 uc002arf.4 uc002arf.5 
ENST00000249822.9 ARPP19 ENST00000249822.9 Homo sapiens cAMP regulated phosphoprotein 19 (ARPP19), transcript variant 3, mRNA. (from RefSeq NM_006628) ARP19_HUMAN B2R497 ENST00000249822.1 ENST00000249822.2 ENST00000249822.3 ENST00000249822.4 ENST00000249822.5 ENST00000249822.6 ENST00000249822.7 ENST00000249822.8 NM_006628 P56211 Q6IAM2 Q86TA6 Q9UD70 uc002acd.1 uc002acd.2 uc002acd.3 The 19-kD cAMP-regulated phosphoprotein plays a role in regulating mitosis by inhibiting protein phosphatase-2A (PP2A; see MIM 176915) (summary by Gharbi-Ayachi et al., 2010 [PubMed 21164014]).[supplied by OMIM, Feb 2011]. Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression. Interacts (when phosphorylated at Ser-62) with PPP2R2D (By similarity). Interacts with SNCA. Cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=2; Name=ARPP-19; IsoId=P56211-1; Sequence=Displayed; Name=ARPP-16; IsoId=P56211-2; Sequence=VSP_018555; Note=Acetylated on Met-1 (By similarity); Expression may be regulated by miR-451. Phosphorylation at Ser-62 by GWL during mitosis is essential for interaction with PPP2R2D (PR55-delta) and subsequent inactivation of PP2A (By similarity). Phosphorylated by PKA. Isoform ARPP-16 contains a N-acetylmethionine at position 1 (By similarity). Belongs to the endosulfine family. G2/M transition of mitotic cell cycle mitotic cell cycle protein phosphatase inhibitor activity receptor binding nucleoplasm cytoplasm cell cycle potassium channel regulator activity phosphatase inhibitor activity protein phosphatase regulator activity negative regulation of phosphoprotein phosphatase activity negative regulation of protein dephosphorylation negative regulation of catalytic activity regulation of phosphoprotein phosphatase activity positive regulation of gluconeogenesis positive regulation of glucose import cell division protein phosphatase 2A binding  uc002acd.1 uc002acd.2 uc002acd.3 
ENST00000249837.7 VPS13C ENST00000249837.7 Homo sapiens vacuolar protein sorting 13 homolog C (VPS13C), transcript variant 1A, mRNA. (from RefSeq NM_017684) ENST00000249837.1 ENST00000249837.2 ENST00000249837.3 ENST00000249837.4 ENST00000249837.5 ENST00000249837.6 KIAA1421 NM_017684 Q6ISR4 Q702P2 Q702P3 Q709C8 Q709C9 Q9NXN8 Q9P2C6 VP13C_HUMAN uc002aha.1 uc002aha.2 uc002aha.3 uc002aha.4 This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=2A; IsoId=Q709C8-1; Sequence=Displayed; Name=2; Synonyms=2B; IsoId=Q709C8-2; Sequence=VSP_052244, VSP_052245; Name=3; Synonyms=1A; IsoId=Q709C8-3; Sequence=VSP_052243; Name=4; Synonyms=1B; IsoId=Q709C8-4; Sequence=VSP_052243, VSP_052244, VSP_052245; Widely expressed. Belongs to the VPS13 family. Sequence=BAA90972.1; Type=Erroneous initiation; Sequence=BAA92659.1; Type=Erroneous initiation; cytoplasm mitochondrion mitochondrial outer membrane cytosol protein targeting to vacuole Golgi to endosome transport mitochondrion organization membrane extrinsic component of membrane protein retention in Golgi apparatus extracellular exosome negative regulation of parkin-mediated mitophagy in response to mitochondrial depolarization  uc002aha.1 uc002aha.2 uc002aha.3 uc002aha.4 
ENST00000249842.8 ISLR ENST00000249842.8 Homo sapiens immunoglobulin superfamily containing leucine rich repeat (ISLR), transcript variant 1, mRNA. (from RefSeq NM_005545) ENST00000249842.1 ENST00000249842.2 ENST00000249842.3 ENST00000249842.4 ENST00000249842.5 ENST00000249842.6 ENST00000249842.7 ISLR_HUMAN NM_005545 O14498 UNQ189/PRO215 uc002axg.1 uc002axg.2 uc002axg.3 Secreted (Potential). Expressed in various tissues including retina, heart, skeletal muscle, prostate, ovary, small intestine, thyroid, adrenal cortex, testis, stomach and spinal cord. Expressed in fetal lung and kidney. Contains 1 Ig-like (immunoglobulin-like) domain. Contains 5 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. Contains 1 LRRNT domain. platelet degranulation extracellular region cell adhesion platelet alpha granule lumen extracellular exosome  uc002axg.1 uc002axg.2 uc002axg.3 
ENST00000249861.9 THAP10 ENST00000249861.9 Homo sapiens THAP domain containing 10 (THAP10), mRNA. (from RefSeq NM_020147) B2R8R0 ENST00000249861.1 ENST00000249861.2 ENST00000249861.3 ENST00000249861.4 ENST00000249861.5 ENST00000249861.6 ENST00000249861.7 ENST00000249861.8 NM_020147 Q9P2Z0 THA10_HUMAN uc002asv.1 uc002asv.2 uc002asv.3 uc002asv.4 uc002asv.5 This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010]. ##Evidence-Data-START## Transcript exon combination :: BC072414.1, SRR1660807.211441.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249861.9/ ENSP00000249861.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Contains 1 THAP-type zinc finger. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transposase activity protein binding transposition, DNA-mediated regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding metal ion binding  uc002asv.1 uc002asv.2 uc002asv.3 uc002asv.4 uc002asv.5 
ENST00000249883.10 AMOTL2 ENST00000249883.10 Homo sapiens angiomotin like 2 (AMOTL2), transcript variant 2, mRNA. (from RefSeq NM_016201) A8K6F1 AMOL2_HUMAN B7Z5Q1 E9PHW3 ENST00000249883.1 ENST00000249883.2 ENST00000249883.3 ENST00000249883.4 ENST00000249883.5 ENST00000249883.6 ENST00000249883.7 ENST00000249883.8 ENST00000249883.9 KIAA0989 NM_016201 Q53EP1 Q96F99 Q9UKB4 Q9Y2J4 uc003eqg.1 uc003eqg.2 uc003eqg.3 uc003eqg.4 Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]. Regulates the translocation of phosphorylated SRC to peripheral cell-matrix adhesion sites. Required for proper architecture of actin filaments. Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Participates in angiogenesis. May play a role in the polarity, proliferation and migration of endothelial cells. Selectively promotes FGF-induced MAPK activation through SRC. Interacts with SRC. Recycling endosome (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9Y2J4-1; Sequence=Displayed; Name=2; IsoId=Q9Y2J4-2; Sequence=VSP_015711; Name=3; IsoId=Q9Y2J4-3; Sequence=VSP_037826; Note=No experimental confirmation available; Name=4; IsoId=Q9Y2J4-4; Sequence=VSP_044081; Note=No experimental confirmation available; Phosphorylation at Tyr-107 is necessary for efficient binding to SRC and synergistically functioning with SRC to activate the downstream MAPK pathway (By similarity). Belongs to the angiomotin family. Sequence=AAH11454.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA76833.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAD97318.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; angiogenesis establishment of cell polarity involved in ameboidal cell migration protein binding endosome cytosol bicellular tight junction Wnt signaling pathway apical plasma membrane actin cytoskeleton organization regulation of cell migration cytoplasmic vesicle hippo signaling identical protein binding recycling endosome  uc003eqg.1 uc003eqg.2 uc003eqg.3 uc003eqg.4 
ENST00000249887.3 ACKR4 ENST00000249887.3 Homo sapiens atypical chemokine receptor 4 (ACKR4), transcript variant 1, mRNA. (from RefSeq NM_178445) B2R9U7 CCBP2 CCR11 CCRL1 CCRL1_HUMAN ENST00000249887.1 ENST00000249887.2 NM_178445 Q9NPB9 VSHK1 uc003eow.1 uc003eow.2 uc003eow.3 uc003eow.4 uc003eow.5 uc003eow.6 The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]. Receptor for CCL2, CCL8, CCL13, CCL19, CCL21 and CCL25. Cell membrane; Multi-pass membrane protein. Predominantly expressed in heart. Lower expression in lung, pancreas, spleen, colon, skeletal muscle and small intestine. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity chemokine receptor activity scavenger receptor activity protein binding endosome early endosome plasma membrane integral component of plasma membrane endocytosis chemotaxis immune response signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration external side of plasma membrane membrane integral component of membrane C-C chemokine receptor activity calcium-mediated signaling chemokine binding C-C chemokine binding recycling endosome cell chemotaxis chemokine-mediated signaling pathway  uc003eow.1 uc003eow.2 uc003eow.3 uc003eow.4 uc003eow.5 uc003eow.6 
ENST00000249910.5 MBD4 ENST00000249910.5 Homo sapiens methyl-CpG binding domain 4, DNA glycosylase (MBD4), transcript variant 1, mRNA. (from RefSeq NM_003925) D3DNC3 D3DNC4 ENST00000249910.1 ENST00000249910.2 ENST00000249910.3 ENST00000249910.4 MBD4_HUMAN MED1 NM_003925 O95243 Q7Z4T3 Q96F09 uc003emh.1 uc003emh.2 uc003emh.3 The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]. Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. Interacts with MLH1. Q13158:FADD; NbExp=6; IntAct=EBI-348011, EBI-494804; Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O95243-1; Sequence=Displayed; Name=2; IsoId=O95243-2; Sequence=VSP_010816; Name=3; IsoId=O95243-3; Sequence=VSP_010817, VSP_010818; Note=No experimental confirmation available; Contains 1 MBD (methyl-CpG-binding) domain. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mbd4/"; chromatin DNA binding satellite DNA binding catalytic activity endodeoxyribonuclease activity protein binding nucleus nucleoplasm DNA repair cellular response to DNA damage stimulus pyrimidine-specific mismatch base pair DNA N-glycosylase activity response to radiation nuclear speck hydrolase activity DNA N-glycosylase activity response to estradiol depyrimidination  uc003emh.1 uc003emh.2 uc003emh.3 
ENST00000249923.7 COPB1 ENST00000249923.7 Homo sapiens COPI coat complex subunit beta 1 (COPB1), transcript variant 1, mRNA. (from RefSeq NM_016451) COPB COPB_HUMAN D3DQX0 ENST00000249923.1 ENST00000249923.2 ENST00000249923.3 ENST00000249923.4 ENST00000249923.5 ENST00000249923.6 MSTP026 NM_016451 P53618 Q6GTT7 Q9NTK2 Q9UNW7 uc001mli.1 uc001mli.2 uc001mli.3 This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]. The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Plays a functional role in facilitating the transport of kappa- type opioid receptor mRNAs into axons and enhances translation of these proteins. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte surface triglyceride lipase (PNPLA2) with the lipid droplet to mediate lipolysis (By similarity). Involved in the Golgi disassembly and reassembly processes during cell cycle. Involved in autophagy by playing a role in early endosome function. Plays a role in organellar compartmentalization of secretory compartments including endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC), Golgi, trans-Golgi network (TGN) and recycling endosomes, and in biosynthetic transport of CAV1. Promotes degradation of Nef cellular targets CD4 and MHC class I antigens by facilitating their trafficking to degradative compartments. Oligomeric complex that consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Interacts (via C-terminus) with HIV-1 Nef; the interaction is direct. Interacts with SCYL1. Interacts with COPG1. Interacts (via trunk domain) with ARF1 (via switch I region); the interaction is direct. Interacts with KCNK2/TREK (via N-terminus); this interaction increases the channel-mediated whole cell currents and promotes plasma membrane expression of KCNK2/TREK. Interacts with anthrax lethal factor (LF); this interaction may facilitate endosomal vesicle membrane translocation of LF and its release from the lumen of endosomal vesicles to external milieu. Interacts with CAPN8 and PRKCE (By similarity). Interacts with ARF1 (myristoylated); this interaction is required for binding of COPB1 to Golgi membranes (By similarity). Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, COPI-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane. Endoplasmic reticulum- Golgi intermediate compartment. Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Proteolytic cleavage by CAPN8 triggers translocation from Golgi to cytoplasm (By similarity). Found in perinuclear vesicular-tubular clusters (VTCs) and in the Golgi region where associated with vesicles, buds and rims of the Golgi stack (By similarity). Occasionally present at the trans-side of Golgi, but mainly present at the cis- Golgi side in transitional areas (TA), on so-called peripheral elements (PE) consisting of tubules and vesicles located between the cup-shaped transitional elements (TE) of the rough endoplasmic reticulum (RER) and the cis-most Golgi cisternae (By similarity). Present in cytoplasm, not associated with visible coats or membranes, with a minor fraction present on small clusters of tubules and vesicles (By similarity). Some association with high- density and low-density microsomes and mitochondria/nuclei fraction (By similarity). Very little found in plasma membrane fraction (By similarity). Proteolytically cleaved between Ser-528 and Ser-529 by CAPN8 (By similarity). Brefeldin A induces dissociation from the Golgi of the beta-COP and presumably the other coatomer subunits. Contains 6 HEAT repeats. Golgi membrane structural molecule activity protein binding cytoplasm endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus Golgi-associated vesicle cytosol plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER intra-Golgi vesicle-mediated transport protein transport membrane viral process vesicle-mediated transport membrane coat COPI vesicle coat transport vesicle COPI-coated vesicle COPI-coated vesicle membrane secretory granule membrane cytoplasmic vesicle intracellular membrane-bounded organelle neutrophil degranulation tertiary granule membrane ficolin-1-rich granule membrane  uc001mli.1 uc001mli.2 uc001mli.3 
ENST00000250003.4 MYOD1 ENST00000250003.4 Homo sapiens myogenic differentiation 1 (MYOD1), mRNA. (from RefSeq NM_002478) BHLHC1 ENST00000250003.1 ENST00000250003.2 ENST00000250003.3 MYF3 MYOD MYOD1_HUMAN NM_002478 O75321 P15172 uc001mni.1 uc001mni.2 uc001mni.3 uc001mni.4 uc001mni.5 This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X56677.1, X17650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153307, SAMEA2162946 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250003.4/ ENSP00000250003.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Activates muscle-specific promoters. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Seems to form active heterodimers with ITF-2. Interacts with SUV39H1 and CDK9. Interacts with DDX5 (By similarity). P15923-1:TCF3; NbExp=2; IntAct=EBI-488878, EBI-769645; Nucleus. Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation. Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity). Ubiquitinated on the N-terminus; which is required for proteasomal degradation. Contains 1 bHLH (basic helix-loop-helix) domain. Name=Wikipedia; Note=MyoD entry; URL="http://en.wikipedia.org/wiki/MyoD"; regulation of alternative mRNA splicing, via spliceosome nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein phosphorylation multicellular organism development muscle organ development myoblast fate determination skeletal muscle tissue development myoblast fusion transcription factor binding cellular response to starvation regulation of gene expression myotube differentiation myotube cell development myotube differentiation involved in skeletal muscle regeneration nuclear body enzyme binding myofibril cell differentiation chromatin DNA binding ubiquitin protein ligase binding nuclear hormone receptor binding skeletal muscle cell differentiation muscle cell fate commitment positive regulation of skeletal muscle tissue regeneration regulation of RNA splicing skeletal muscle fiber adaptation sequence-specific DNA binding histone H3 acetylation histone H4 acetylation myoblast differentiation positive regulation of myoblast differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity skeletal muscle fiber development positive regulation of skeletal muscle fiber development striated muscle cell differentiation positive regulation of muscle cell differentiation E-box binding cellular response to tumor necrosis factor cellular response to glucocorticoid stimulus cellular response to estradiol stimulus cellular response to oxygen levels positive regulation of myoblast fusion positive regulation of snRNA transcription from RNA polymerase II promoter promoter-specific chromatin binding negative regulation of myoblast proliferation  uc001mni.1 uc001mni.2 uc001mni.3 uc001mni.4 uc001mni.5 
ENST00000250018.6 TPH1 ENST00000250018.6 L-tryptophan + tetrahydrobiopterin + O(2) = 5- hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin. (from UniProt P17752) D3DQX6 ENST00000250018.1 ENST00000250018.2 ENST00000250018.3 ENST00000250018.4 ENST00000250018.5 KJ892306 O95188 O95189 P17752 Q16736 Q3KPG8 TPH TPH1_HUMAN TPRH TRPH uc001mnp.1 uc001mnp.2 uc001mnp.3 L-tryptophan + tetrahydrobiopterin + O(2) = 5- hydroxy-L-tryptophan + 4a-hydroxytetrahydrobiopterin. Fe(2+) ion. Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2. Homotetramer (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P17752-1; Sequence=Displayed; Name=2; IsoId=P17752-2; Sequence=VSP_000546; Isoform 2 seems to be less widely expressed than isoform 1. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. Contains 1 ACT domain. monooxygenase activity tryptophan 5-monooxygenase activity iron ion binding cytoplasm cytosol circadian rhythm aromatic amino acid family metabolic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen negative regulation of ossification response to immobilization stress serotonin biosynthetic process neuron projection positive regulation of fat cell differentiation indolalkylamine biosynthetic process bone remodeling metal ion binding oxidation-reduction process mammary gland alveolus development  uc001mnp.1 uc001mnp.2 uc001mnp.3 
ENST00000250024.9 E2F8 ENST00000250024.9 Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA. (from RefSeq NM_024680) A0AVK6 A8K9H3 E2F8_HUMAN ENST00000250024.1 ENST00000250024.2 ENST00000250024.3 ENST00000250024.4 ENST00000250024.5 ENST00000250024.6 ENST00000250024.7 ENST00000250024.8 NM_024680 Q2VPJ3 Q3C1U6 Q5BKY4 Q8N340 Q9H5M0 uc001mpm.1 uc001mpm.2 uc001mpm.3 uc001mpm.4 uc001mpm.5 This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]. Along with E2F7, inhibitor of E2F-dependent transcription. Binds DNA independently of DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3'. Directly represses E2F1 transcription. Appears to regulate a subset of E2F-dependent genes whose products are required for normal cell cycle progession. Forms heterodimers with E2F7 and, to a lesser extent, homodimers. Dimerization is important for DNA binding. Nucleus. Both DNA-binding domains are required for DNA-binding and are proposed to form an intramolecular structure that is similar to the winged helix structure of the E2F-DP heterodimer (By similarity). Belongs to the E2F/DP family. Sequence=AAH28244.2; Type=Erroneous initiation; Sequence=BAB15605.1; Type=Erroneous initiation; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding placenta development sprouting angiogenesis DNA binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus nucleoplasm transcription factor complex nucleolus cytosol regulation of transcription, DNA-templated DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest cell cycle transcription factor binding cell proliferation negative regulation of cytokinesis positive regulation of DNA endoreduplication cell cycle comprising mitosis without cytokinesis identical protein binding protein homodimerization activity sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter regulation of cell cycle trophoblast giant cell differentiation chorionic trophoblast cell differentiation hepatocyte differentiation RNA polymerase II transcription factor complex  uc001mpm.1 uc001mpm.2 uc001mpm.3 uc001mpm.4 uc001mpm.5 
ENST00000250055.3 SOX15 ENST00000250055.3 Homo sapiens SRY-box transcription factor 15 (SOX15), mRNA. (from RefSeq NM_006942) D3DTQ0 ENST00000250055.1 ENST00000250055.2 NM_006942 O60248 P35717 Q9Y6W7 SOX12 SOX15_HUMAN SOX20 SOX26 SOX27 uc002ghz.1 uc002ghz.2 uc002ghz.3 This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000985.2, AB006867.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000250055.3/ ENSP00000355354.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to the 5'-AACAAT-3' sequence. Nucleus (Potential). Widely expressed in fetal and adult tissues examined, highest level found in fetal spinal cord and adult brain and testis. Contains 1 HMG box DNA-binding domain. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm chromatin organization regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter male gonad development positive regulation of satellite cell activation involved in skeletal muscle regeneration cell differentiation skeletal muscle tissue regeneration nuclear transcription factor complex negative regulation of striated muscle tissue development positive regulation of transcription from RNA polymerase II promoter myoblast development positive regulation of G0 to G1 transition positive regulation of myoblast proliferation  uc002ghz.1 uc002ghz.2 uc002ghz.3 
ENST00000250056.12 PIMREG ENST00000250056.12 Homo sapiens PICALM interacting mitotic regulator (PIMREG), transcript variant 2, mRNA. (from RefSeq NM_001195228) ENST00000250056.1 ENST00000250056.10 ENST00000250056.11 ENST00000250056.2 ENST00000250056.3 ENST00000250056.4 ENST00000250056.5 ENST00000250056.6 ENST00000250056.7 ENST00000250056.8 ENST00000250056.9 FA64A_HUMAN FAM64A NM_001195228 Q96CT4 Q9BSJ6 Q9NVV1 Q9NWB5 uc002gcw.1 uc002gcw.2 uc002gcw.3 P04156:PRNP; NbExp=5; IntAct=EBI-2568609, EBI-977302; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BSJ6-1; Sequence=Displayed; Name=2; IsoId=Q9BSJ6-2; Sequence=VSP_023997; protein binding nucleus nucleolus cell cycle cell division  uc002gcw.1 uc002gcw.2 uc002gcw.3 
ENST00000250066.6 USP6 ENST00000250066.6 Homo sapiens ubiquitin specific peptidase 6 (USP6), transcript variant 2, mRNA. (from RefSeq NM_004505) ENST00000250066.1 ENST00000250066.2 ENST00000250066.3 ENST00000250066.4 ENST00000250066.5 HRP1 NM_004505 P35125 Q15634 Q86WP6 Q8IWT4 TRE2 UBP6_HUMAN uc002gav.1 uc002gav.2 Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6- dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation. Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C- terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal). Interacts with RAC1 and CDC42. Interacts (via Rab-GAP TBC domain) with ARF6. Interacts with calmodulin (CALM1, CALM2 and/or CALM3); the interaction is calcium-dependent. Q8N8A2:ANKRD44; NbExp=4; IntAct=EBI-954590, EBI-1245329; P10916:MYL2; NbExp=5; IntAct=EBI-954590, EBI-725770; Cell membrane. Cytoplasm. Endosome. Note=Localizes to the plasma membrane and to filamentous structures within the cell corresponding to ARF6 regulated tubular endosomes. Activation of RAC1 and CDC42 can direct the relocalization of USP6 to the plasma membrane in a manner that depends on the integrity of the actin cytoskeleton. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P35125-1; Sequence=Displayed; Name=2; Synonyms=213(ORF2); IsoId=P35125-2; Sequence=VSP_010878, VSP_010879; Name=3; Synonyms=210(ORF1), oncTre210p; IsoId=P35125-3; Sequence=VSP_010880, VSP_010881; Note=Was shown to be tumorigenic in transfected mice and seems not to act as GTPase activating protein; Testis specific. Expressed in various cancer cell lines. The Rab-GAP TBC domain lacks GTPase activator activity but is necessary for interaction with ARF6. Monubiquitinated; ubiquitination is calmodulin and calcium dependent. Note=A chromosomal aberration involving USP6 is a common genetic feature of aneurysmal bone cyst, a benign osseous neoplasm. Translocation t(16;17)(q22;p13) with CDH11. The translocation generates a fusion gene in which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional up-regulation. The USP6 gene only exists in the primate lineage. Belongs to the peptidase C19 family. Contains 1 Rab-GAP TBC domain. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/USP6ID530ch17p13.html"; nucleic acid binding cysteine-type endopeptidase activity thiol-dependent ubiquitin-specific protease activity GTPase activator activity protein binding calmodulin binding cytoplasm lysosome endosome plasma membrane cellular protein modification process proteolysis ubiquitin-dependent protein catabolic process intracellular protein transport peptidase activity cysteine-type peptidase activity membrane protein deubiquitination hydrolase activity Rab GTPase binding thiol-dependent ubiquitinyl hydrolase activity recycling endosome regulation of vesicle-mediated transport activation of GTPase activity  uc002gav.1 uc002gav.2 
ENST00000250076.8 ZNF232 ENST00000250076.8 Homo sapiens zinc finger protein 232 (ZNF232), transcript variant 1, mRNA. (from RefSeq NM_014519) ENST00000250076.1 ENST00000250076.2 ENST00000250076.3 ENST00000250076.4 ENST00000250076.5 ENST00000250076.6 ENST00000250076.7 NM_014519 Q9UNY5 ZN232_HUMAN ZSCAN11 uc002gat.1 uc002gat.2 uc002gat.3 uc002gat.4 uc002gat.5 May be involved in transcriptional regulation. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q9UNY5-1; Sequence=Displayed; Name=Short; IsoId=Q9UNY5-2; Sequence=VSP_006906; Ubiquitous. Higher expression seen in the liver, testis and ovary. Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 SCAN box domain. Sequence=AAH16039.2; Type=Erroneous initiation; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytosol regulation of transcription, DNA-templated intracellular membrane-bounded organelle metal ion binding  uc002gat.1 uc002gat.2 uc002gat.3 uc002gat.4 uc002gat.5 
ENST00000250087.9 AIPL1 ENST00000250087.9 Homo sapiens aryl hydrocarbon receptor interacting protein like 1 (AIPL1), transcript variant 2, mRNA. (from RefSeq NM_001033054) AIPL1_HUMAN AIPL2 D3DTM4 ENST00000250087.1 ENST00000250087.2 ENST00000250087.3 ENST00000250087.4 ENST00000250087.5 ENST00000250087.6 ENST00000250087.7 ENST00000250087.8 NM_001033054 Q6ZZB6 Q8N6A0 Q9H873 Q9NS10 Q9NZN9 uc002gcr.1 uc002gcr.2 uc002gcr.3 uc002gcr.4 uc002gcr.5 Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. May be important in protein trafficking and/or protein folding and stabilization. Interacts with NUB1. Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NZN9-1; Sequence=Displayed; Name=2; IsoId=Q9NZN9-2; Sequence=VSP_041507; Name=3; Synonyms=AIPL2; IsoId=Q9NZN9-3; Sequence=VSP_041508; Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Contains 1 PPIase FKBP-type domain. Contains 3 TPR repeats. Name=Mutations of the AIPL1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/aipl1mut.htm"; Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIPL1"; protein peptidyl-prolyl isomerization retina homeostasis photoreceptor inner segment farnesylated protein binding peptidyl-prolyl cis-trans isomerase activity protein binding nucleus nucleoplasm cytoplasm cytosol visual perception phototransduction, visible light protein farnesylation regulation of rhodopsin mediated signaling pathway negative regulation of apoptotic process response to stimulus unfolded protein binding  uc002gcr.1 uc002gcr.2 uc002gcr.3 uc002gcr.4 uc002gcr.5 
ENST00000250092.11 CD68 ENST00000250092.11 Homo sapiens CD68 molecule (CD68), transcript variant 1, mRNA. (from RefSeq NM_001251) CD68_HUMAN ENST00000250092.1 ENST00000250092.10 ENST00000250092.2 ENST00000250092.3 ENST00000250092.4 ENST00000250092.5 ENST00000250092.6 ENST00000250092.7 ENST00000250092.8 ENST00000250092.9 NM_001251 P34810 Q53HR6 Q53XI3 Q96BI7 uc002ghv.1 uc002ghv.2 uc002ghv.3 uc002ghv.4 uc002ghv.5 This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]. Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells. Isoform Short: Cell membrane; Single-pass type I membrane protein. Isoform Long: Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Long; Synonyms=CD68.1; IsoId=P34810-1; Sequence=Displayed; Name=Short; Synonyms=CD68.2; IsoId=P34810-2; Sequence=VSP_003041, VSP_003042; Highly expressed by blood monocytes and tissue macrophages. Also expressed in lymphocytes, fibroblasts and endothelial cells. Expressed in many tumor cell lines which could allow them to attach to selectins on vascular endothelium, facilitating their dissemination to secondary sites. N- and O-glycosylated. Belongs to the LAMP family. CD68 is a commonly used marker for macrophages. However, a number of studies (PubMed:15194571, PubMed:15647451 and PubMed:18405323) have shown that CD68 antibodies react with other hematopoietic and non-hematopoietic cell types, suggesting that CD68 may not be a macrophage-specific antigen. inflammatory response to antigenic stimulus negative regulation of dendritic cell antigen processing and presentation cell lysosome lysosomal membrane endosome plasma membrane aging endosome membrane membrane integral component of membrane cellular response to nutrient levels late endosome membrane autocrine signaling azurophil granule membrane neutrophil degranulation cellular response to lipopolysaccharide establishment of protein localization to organelle  uc002ghv.1 uc002ghv.2 uc002ghv.3 uc002ghv.4 uc002ghv.5 
ENST00000250101.10 TXNDC17 ENST00000250101.10 Homo sapiens thioredoxin domain containing 17 (TXNDC17), mRNA. (from RefSeq NM_032731) A8K7E8 ENST00000250101.1 ENST00000250101.2 ENST00000250101.3 ENST00000250101.4 ENST00000250101.5 ENST00000250101.6 ENST00000250101.7 ENST00000250101.8 ENST00000250101.9 NM_032731 Q9BRA2 TXD17_HUMAN TXNL5 uc002gdf.1 uc002gdf.2 uc002gdf.3 uc002gdf.4 uc002gdf.5 uc002gdf.6 Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide. Interacts with TRXR1 and DYNLL1/DNCL1. Cytoplasm. Ubiquitously expressed in cell lines. The oxidized protein is reduced by TRXR1. Belongs to the thioredoxin family. Contains 1 thioredoxin domain. peroxidase activity protein binding cytoplasm cytosol tumor necrosis factor-mediated signaling pathway protein-disulfide reductase activity oxidation-reduction process extracellular exosome cellular oxidant detoxification  uc002gdf.1 uc002gdf.2 uc002gdf.3 uc002gdf.4 uc002gdf.5 uc002gdf.6 
ENST00000250111.9 ATP1B2 ENST00000250111.9 Homo sapiens ATPase Na+/K+ transporting subunit beta 2 (ATP1B2), transcript variant 1, mRNA. (from RefSeq NM_001678) A0AV17 A8K278 AT1B2_HUMAN D3DTQ2 ENST00000250111.1 ENST00000250111.2 ENST00000250111.3 ENST00000250111.4 ENST00000250111.5 ENST00000250111.6 ENST00000250111.7 ENST00000250111.8 NM_001678 O60444 P14415 uc002gif.1 uc002gif.2 uc002gif.3 The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]. This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+