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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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 
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